ONTOLOGY REPORT - ANNOTATIONS |
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Term: | monoatomic ion homeostasis |
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Accession: | GO:0050801
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browse the term
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Definition: | Any process involved in the maintenance of an internal steady state of monoatomic ions within an organism or cell. Monatomic ions (also called simple ions) are ions consisting of exactly one atom. |
Synonyms: | broad_synonym: | ion homeostasis |
| related_synonym: | electrolyte homeostasis; negative regulation of crystal formation; regulation of ion homeostasis |
| alt_id: | GO:2000021 |
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CRH |
corticotropin releasing hormone |
involved_in |
ISO IEA |
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RGD Ensembl |
PMID:21539900 |
GO_REF:0000107 RGD:5490586 |
NCBI chr 8:66,176,376...66,178,464
Ensembl chr 8:66,176,376...66,178,464
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CYP11B2 |
cytochrome P450 family 11 subfamily B member 2 |
acts_upstream_of_or_within |
ISO |
(PMID:16118390) |
MGI |
PMID:16118390 |
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NCBI chr 8:142,910,559...142,917,843
Ensembl chr 8:142,910,559...142,917,843
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DBNDD2 |
dysbindin domain containing 2 |
acts_upstream_of_or_within involved_in |
ISO IEA |
(PMID:18096156) |
MGI Ensembl |
PMID:18096156 |
GO_REF:0000107 |
NCBI chr20:45,405,993...45,410,610
Ensembl chr20:45,406,057...45,410,610
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EPB42 |
erythrocyte membrane protein band 4.2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:10359562) |
Ensembl MGI |
PMID:10359562 |
GO_REF:0000107 |
NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
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KLHL3 |
kelch like family member 3 |
involved_in |
IMP IBA IEA |
(PMID:23453970), (PMID:23576762) |
UniProt GO_Central Ensembl |
PMID:23453970 PMID:23576762 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089
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SLC4A11 |
solute carrier family 4 member 11 |
involved_in |
IEA IBA |
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Ensembl GO_Central |
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GO_REF:0000033 GO_REF:0000107 |
NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559
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STK39 |
serine/threonine kinase 39 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:21907141) |
Ensembl MGI |
PMID:21907141 |
GO_REF:0000107 |
NCBI chr 2:167,954,022...168,247,595
Ensembl chr 2:167,954,020...168,247,595
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UMOD |
uromodulin |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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WNK2 |
WNK lysine deficient protein kinase 2 |
involved_in |
IMP |
(PMID:21733846) |
UniProt |
PMID:21733846 |
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NCBI chr 9:93,184,139...93,320,569
Ensembl chr 9:93,184,122...93,320,572
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WNK3 |
WNK lysine deficient protein kinase 3 |
involved_in |
IMP |
(PMID:21613606) |
UniProt |
PMID:21613606 |
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NCBI chr X:54,192,823...54,358,900
Ensembl chr X:54,192,823...54,358,642
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WNK4 |
WNK lysine deficient protein kinase 4 |
involved_in |
IMP IEA |
(PMID:23453970), (PMID:23576762) |
UniProt Ensembl |
PMID:23453970 PMID:23576762 |
GO_REF:0000107 |
NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066
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GHITM |
growth hormone inducible transmembrane protein |
involved_in |
IMP IBA |
(PMID:35912435) |
UniProt GO_Central |
PMID:35912435 |
GO_REF:0000033 |
NCBI chr10:84,139,509...84,153,568
Ensembl chr10:84,139,482...84,154,841
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
involved_in |
IEA IMP IDA |
(PMID:32139798) (PMID:19797662) |
Ensembl UniProt |
PMID:19797662 PMID:32139798 |
GO_REF:0000107 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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SLC8B1 |
solute carrier family 8 member B1 |
involved_in |
IDA IBA IEA |
(PMID:24898248) |
UniProt GO_Central Ensembl |
PMID:24898248 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
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ABCC6 |
ATP binding cassette subfamily C member 6 |
involved_in |
IDA IEA |
(PMID:28592560) |
MGI Ensembl |
PMID:28592560 |
GO_REF:0000107 |
NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522
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ALPL |
alkaline phosphatase, biomineralization associated |
involved_in |
IEA IDA |
(PMID:28592560) |
Ensembl MGI |
PMID:28592560 |
GO_REF:0000107 |
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ANKH |
ANKH inorganic pyrophosphate transport regulator |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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ASPH |
aspartate beta-hydroxylase |
involved_in |
IDA |
(PMID:15302852) |
UniProt |
PMID:15302852 |
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NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640
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ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
involved_in |
IMP |
(PMID:20622307) |
UniProt |
PMID:20622307 |
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NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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CALB1 |
calbindin 1 |
involved_in |
IEA |
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InterPro |
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GO_REF:0000002 |
NCBI chr 8:90,058,608...90,082,879
Ensembl chr 8:90,058,608...90,095,475
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CAV1 |
caveolin 1 |
involved_in acts_upstream_of_or_within |
ISS ISO IEA |
(PMID:12651616) |
BHF-UCL MGI Ensembl |
PMID:12651616 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCDC47 |
coiled-coil domain containing 47 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:17204322) |
Ensembl MGI |
PMID:17204322 |
GO_REF:0000107 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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CIB2 |
calcium and integrin binding family member 2 |
involved_in |
ISS IBA IEA |
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UniProt GO_Central Ensembl |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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CIB3 |
calcium and integrin binding family member 3 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr19:16,161,368...16,173,525
Ensembl chr19:16,161,368...16,173,525
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CST5 |
cystatin D |
involved_in |
ISO |
(PMID:16680148) |
MGI |
PMID:16680148 |
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NCBI chr20:23,875,934...23,879,748
Ensembl chr20:23,875,934...23,879,748
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CYP27B1 |
cytochrome P450 family 27 subfamily B member 1 |
involved_in |
IMP |
(PMID:9415400) |
BHF-UCL |
PMID:9415400 |
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NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
involved_in |
ISO |
(PMID:24732453) (PMID:12817751) (PMID:23798568), (PMID:26624227), (PMID:26763447), (PMID:28402956), (PMID:28592560) (PMID:22927960) (PMID:21490328), (PMID:25260930) (PMID:28592560) (PMID:24770645) (PMID:22359666), (PMID:22927960), (PMID:23717624), (PMID:28701330) (PMID:28704395) |
MGI |
PMID:12817751 PMID:21490328 PMID:22359666 PMID:22927960 PMID:23717624 PMID:23798568 PMID:24732453 PMID:24770645 PMID:25260930 PMID:26624227 PMID:26763447 PMID:28402956 PMID:28592560 PMID:28701330 PMID:28704395 More...
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NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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FAM20A |
FAM20A golgi associated secretory pathway pseudokinase |
involved_in |
IMP |
(PMID:23434854) |
UniProt |
PMID:23434854 |
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NCBI chr17:68,535,116...68,601,367
Ensembl chr17:68,535,113...68,601,367
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FAM3A |
FAM3 metabolism regulating signaling molecule A |
acts_upstream_of_or_within |
ISO |
(PMID:31944392) |
MGI |
PMID:31944392 |
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NCBI chr X:154,506,171...154,516,232
Ensembl chr X:154,506,159...154,516,242
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FGF23 |
fibroblast growth factor 23 |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr12:4,368,227...4,379,712
Ensembl chr12:4,368,227...4,379,712
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FGFR1 |
fibroblast growth factor receptor 1 |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR3 |
fibroblast growth factor receptor 3 |
involved_in |
ISO |
(PMID:23523568) |
MGI |
PMID:23523568 |
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
involved_in acts_upstream_of_or_within |
ISS ISO |
(PMID:7907365) |
UniProt MGI |
PMID:7907365 |
GO_REF:0000024 |
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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HRC |
histidine rich calcium binding protein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:16600288) |
Ensembl MGI |
PMID:16600288 |
GO_REF:0000107 |
NCBI chr19:49,151,198...49,155,396
Ensembl chr19:49,151,198...49,155,396
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ITPR3 |
inositol 1,4,5-trisphosphate receptor type 3 |
involved_in |
IMP |
(PMID:32949214) |
UniProt |
PMID:32949214 |
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NCBI chr 6:33,621,322...33,696,562
Ensembl chr 6:33,620,365...33,696,574
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JPH2 |
junctophilin 2 |
involved_in |
IDA |
(PMID:20095964) |
UniProt |
PMID:20095964 |
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NCBI chr20:44,106,590...44,187,188
Ensembl chr20:44,106,590...44,187,188
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KDR |
kinase insert domain receptor |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:8356051) |
Ensembl MGI |
PMID:8356051 |
GO_REF:0000107 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KL |
klotho |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:22285620) |
Ensembl MGI |
PMID:22285620 |
GO_REF:0000107 |
NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143
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NT5E |
5'-nucleotidase ecto |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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PSEN1 |
presenilin 1 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
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PSEN2 |
presenilin 2 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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PTH |
parathyroid hormone |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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S100A14 |
S100 calcium binding protein A14 |
involved_in |
NAS |
(PMID:16682778) |
UniProt |
PMID:16682778 |
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NCBI chr 1:153,614,255...153,616,325
Ensembl chr 1:153,614,255...153,616,986
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SELENON |
selenoprotein N |
involved_in |
IMP IBA |
(PMID:19557870) |
UniProt GO_Central |
PMID:19557870 |
GO_REF:0000033 |
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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SGCD |
sarcoglycan delta |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:19931597) |
Ensembl MGI |
PMID:19931597 |
GO_REF:0000107 |
NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788
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SLC24A4 |
solute carrier family 24 member 4 |
involved_in |
ISS IEA |
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ARUK-UCL Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
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SLC34A1 |
solute carrier family 34 member 1 |
involved_in |
ISO |
(PMID:28704395) |
MGI |
PMID:28704395 |
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NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848
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SLC8A1 |
solute carrier family 8 member A1 |
involved_in |
ISS |
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BHF-UCL |
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GO_REF:0000024 |
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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SNCA |
synuclein alpha |
NOT|involved_in |
IDA |
(PMID:12239163) |
UniProt |
PMID:12239163 |
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NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
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SNX10 |
sorting nexin 10 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:25811986) |
Ensembl MGI |
PMID:25811986 |
GO_REF:0000107 |
NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383
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SPP1 |
secreted phosphoprotein 1 |
involved_in |
ISO |
(PMID:12817751) |
MGI |
PMID:12817751 |
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NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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STC2 |
stanniocalcin 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:22285620) |
Ensembl MGI |
PMID:22285620 |
GO_REF:0000107 |
NCBI chr 5:173,314,723...173,328,414
Ensembl chr 5:173,314,723...173,328,447
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TMTC2 |
transmembrane O-mannosyltransferase targeting cadherins 2 |
involved_in |
IMP |
(PMID:24764305) |
UniProt |
PMID:24764305 |
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NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870
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TNFSF11 |
TNF superfamily member 11 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:21982707) |
Ensembl MGI |
PMID:21982707 |
GO_REF:0000107 |
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TRIM24 |
tripartite motif containing 24 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:18287084) |
Ensembl MGI |
PMID:18287084 |
GO_REF:0000107 |
NCBI chr 7:138,460,259...138,589,996
Ensembl chr 7:138,460,259...138,589,996
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TRPV5 |
transient receptor potential cation channel subfamily V member 5 |
involved_in |
ISS IEA |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:142,908,101...142,933,746
Ensembl chr 7:142,908,101...142,933,746
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TRPV6 |
transient receptor potential cation channel subfamily V member 6 |
involved_in acts_upstream_of_or_within |
IEA ISO ISS |
(PMID:17129178) |
Ensembl MGI UniProt |
PMID:17129178 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745
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UMOD |
uromodulin |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:20591941), (PMID:30007527) |
Ensembl MGI |
PMID:20591941 PMID:30007527 |
GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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WFS1 |
wolframin ER transmembrane glycoprotein |
involved_in |
IEA IBA IDA |
(PMID:14527944) |
InterPro GO_Central BHF-UCL |
PMID:14527944 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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WNK4 |
WNK lysine deficient protein kinase 4 |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066
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ZNHIT1 |
zinc finger HIT-type containing 1 |
involved_in |
ISS |
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UniProt |
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GO_REF:0000024 |
NCBI chr 7:101,218,165...101,224,190
Ensembl chr 7:101,218,165...101,224,190
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HFE |
homeostatic iron regulator |
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ISO |
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RGD |
PMID:16208485 |
RGD:1582698 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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ATP6V1B1 |
ATPase H+ transporting V1 subunit B1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:24051376) |
Ensembl MGI |
PMID:24051376 |
GO_REF:0000107 |
NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
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CA12 |
carbonic anhydrase 12 |
involved_in |
IMP |
(PMID:21035102) |
UniProt |
PMID:21035102 |
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NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846
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KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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SLC12A1 |
solute carrier family 12 member 1 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
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SLC12A2 |
solute carrier family 12 member 2 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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SLC12A3 |
solute carrier family 12 member 3 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
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SLC12A4 |
solute carrier family 12 member 4 |
involved_in |
ISS IBA |
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UniProt GO_Central |
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GO_REF:0000024 GO_REF:0000033 |
NCBI chr16:67,943,474...67,968,694
Ensembl chr16:67,943,474...67,969,601
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SLC12A5 |
solute carrier family 12 member 5 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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SLC12A6 |
solute carrier family 12 member 6 |
involved_in |
ISS IBA IEA |
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UniProt GO_Central Ensembl |
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GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060
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G |
SLC12A7 |
solute carrier family 12 member 7 |
involved_in |
IBA |
|
GO_Central |
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GO_REF:0000033 |
NCBI chr 5:1,050,384...1,155,899
Ensembl chr 5:1,050,384...1,112,063
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G |
SLC12A8 |
solute carrier family 12 member 8 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864
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G |
SLC12A9 |
solute carrier family 12 member 9 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
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UMOD |
uromodulin |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:29357410) |
Ensembl MGI |
PMID:29357410 |
GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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COMMD1 |
copper metabolism domain containing 1 |
involved_in |
IDA IBA IEA |
(PMID:14685266) |
UniProt GO_Central InterPro |
PMID:14685266 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr 2:61,888,391...62,136,058
Ensembl chr 2:61,888,724...62,147,247
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G |
COX10 |
cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 |
acts_upstream_of_or_within involved_in |
ISO IEA |
(PMID:36301669) |
MGI Ensembl |
PMID:36301669 |
GO_REF:0000107 |
NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
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CUTC |
cutC copper transporter |
involved_in |
NAS |
(PMID:16182249) |
UniProt |
PMID:16182249 |
|
NCBI chr10:99,732,234...99,756,134
Ensembl chr10:99,702,558...99,756,134
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SCO1 |
synthesis of cytochrome C oxidase 1 |
acts_upstream_of_or_within |
ISO |
(PMID:36301669) |
MGI |
PMID:36301669 |
|
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
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G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:19837698) |
Ensembl MGI |
PMID:19837698 |
GO_REF:0000107 |
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
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G |
XIAP |
X-linked inhibitor of apoptosis |
involved_in |
TAS |
(PMID:17382285) |
UniProt |
PMID:17382285 |
|
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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G |
TFR2 |
transferrin receptor 2 |
involved_in |
IGI IBA |
(PMID:18353247) |
BHF-UCL GO_Central |
PMID:18353247 |
GO_REF:0000033 |
NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
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G |
AC046185.1 |
novel transcript |
involved_in |
IEA |
|
InterPro |
|
GO_REF:0000002 |
Ensembl chr17:63,702,845...63,752,097
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G |
ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
involved_in |
IDA |
(PMID:10587333), (PMID:16402920) |
BHF-UCL |
PMID:10587333 PMID:16402920 |
|
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
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G |
ATP2A3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
|
ISO |
|
RGD |
PMID:11956212 |
RGD:631751 |
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,868...3,964,464
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G |
BAK1 |
BCL2 antagonist/killer 1 |
involved_in |
TAS |
(PMID:18309324) |
UniProt |
PMID:18309324 |
|
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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G |
BAX |
BCL2 associated X, apoptosis regulator |
involved_in |
TAS |
(PMID:18309324) |
UniProt |
PMID:18309324 |
|
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
|
|
G |
BCL2 |
BCL2 apoptosis regulator |
involved_in acts_upstream_of_or_within |
TAS ISO IEA |
(PMID:18309324) (PMID:15613488) |
UniProt MGI Ensembl |
PMID:15613488 PMID:18309324 |
GO_REF:0000107 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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|
G |
CAMK2D |
calcium/calmodulin dependent protein kinase II delta |
involved_in |
ISS |
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
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G |
CCDC47 |
coiled-coil domain containing 47 |
involved_in |
IEA IMP |
(PMID:30401460) |
InterPro UniProt |
PMID:30401460 |
GO_REF:0000002 |
NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351
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|
G |
CLCC1 |
chloride channel CLIC like 1 |
involved_in |
IMP |
(PMID:37142673) |
UniProt |
PMID:37142673 |
|
NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
|
|
G |
GRINA |
glutamate ionotropic receptor NMDA type subunit associated protein 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:22240901) |
Ensembl MGI |
PMID:22240901 |
GO_REF:0000107 |
NCBI chr 8:143,990,056...143,993,415
Ensembl chr 8:143,990,056...143,993,415
|
|
G |
HERPUD1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
involved_in |
IDA IBA |
(PMID:15102845), (PMID:22045699) |
ParkinsonsUK-UCL GO_Central |
PMID:15102845 PMID:22045699 |
GO_REF:0000033 |
NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864
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|
G |
ITPR1 |
inositol 1,4,5-trisphosphate receptor type 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15613488) |
Ensembl MGI |
PMID:15613488 |
GO_REF:0000107 |
NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506
|
|
G |
KCNK16 |
potassium two pore domain channel subfamily K member 16 |
involved_in |
IMP |
(PMID:28928238) |
UniProt |
PMID:28928238 |
|
NCBI chr 6:39,314,570...39,322,968
Ensembl chr 6:39,314,698...39,322,968
|
|
G |
KCTD17 |
potassium channel tetramerization domain containing 17 |
involved_in |
IMP |
(PMID:25983243) |
UniProt |
PMID:25983243 |
|
NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
|
|
G |
PACS2 |
phosphofurin acidic cluster sorting protein 2 |
involved_in |
IMP |
(PMID:15692567) |
CACAO |
PMID:15692567 |
|
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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|
G |
PML |
PML nuclear body scaffold |
involved_in |
ISS IEA |
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
|
|
G |
PSEN1 |
presenilin 1 |
involved_in acts_upstream_of_or_within |
IMP IEA IDA IGI |
(PMID:25394380) (PMID:17431506) (PMID:16959576) |
UniProt Ensembl MGI |
PMID:16959576 PMID:17431506 PMID:25394380 |
GO_REF:0000107 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
|
|
G |
PSEN2 |
presenilin 2 |
acts_upstream_of_or_within |
ISO |
(PMID:12460542) |
MGI |
PMID:12460542 |
|
NCBI chr 1:226,870,616...226,903,668
Ensembl chr 1:226,870,184...226,927,726
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|
G |
SELENOK |
selenoprotein K |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:53,884,417...53,891,859
Ensembl chr 3:53,884,417...53,891,885
|
|
G |
TMBIM6 |
transmembrane BAX inhibitor motif containing 6 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15304216), (PMID:22240901) |
Ensembl MGI |
PMID:15304216 PMID:22240901 |
GO_REF:0000107 |
NCBI chr12:49,741,557...49,764,934
Ensembl chr12:49,707,725...49,764,934
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|
G |
TMCO1 |
transmembrane and coiled-coil domains 1 |
involved_in |
IDA IBA IEA |
(PMID:27212239) |
UniProt GO_Central InterPro |
PMID:27212239 |
GO_REF:0000002 GO_REF:0000033 GO_REF:0000104 |
NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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|
G |
TUNAR |
transmembrane neural differentiation associated intracellular calcium regulator |
involved_in |
IDA |
(PMID:34513312) |
UniProt |
PMID:34513312 |
|
NCBI chr14:95,876,448...95,925,571
Ensembl chr14:95,866,587...95,925,663
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|
G |
WFS1 |
wolframin ER transmembrane glycoprotein |
involved_in |
IDA |
(PMID:16989814) |
BHF-UCL |
PMID:16989814 |
|
NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
|
|
|
G |
AQP11 |
aquaporin 11 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:16107722) |
Ensembl MGI |
PMID:16107722 |
GO_REF:0000107 |
NCBI chr11:77,589,953...77,610,356
Ensembl chr11:77,589,391...77,610,356
|
|
G |
ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
|
|
G |
ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
|
|
G |
ATP6V0A1 |
ATPase H+ transporting V0 subunit a1 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
|
|
G |
ATP6V0B |
ATPase H+ transporting V0 subunit b |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
|
|
G |
ATP6V0C |
ATPase H+ transporting V0 subunit c |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1D |
ATPase H+ transporting V1 subunit D |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
|
|
G |
ATP6V1F |
ATPase H+ transporting V1 subunit F |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
|
|
G |
ATP6V1H |
ATPase H+ transporting V1 subunit H |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
|
|
G |
CLCN3 |
chloride voltage-gated channel 3 |
involved_in |
TAS |
(PMID:12471024) |
UniProt |
PMID:12471024 |
|
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
|
|
G |
FASLG |
Fas ligand |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:18045865 |
GO_REF:0000107 RGD:2315735 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
|
|
G |
RNASEK |
ribonuclease K |
involved_in |
IPI NAS |
(PMID:26212330) (PMID:32001091) |
UniProt ComplexPortal |
PMID:26212330 PMID:32001091 |
|
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
|
|
G |
TMEM9 |
transmembrane protein 9 |
involved_in |
IDA |
(PMID:30374053) |
UniProt |
PMID:30374053 |
|
NCBI chr 1:201,134,772...201,171,558
Ensembl chr 1:201,134,772...201,171,574
|
|
|
G |
ATP2C1 |
ATPase secretory pathway Ca2+ transporting 1 |
involved_in |
IMP ISS |
(PMID:14632183), (PMID:20439740) |
UniProt |
PMID:14632183 PMID:20439740 |
GO_REF:0000024 |
NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
|
|
G |
TMEM165 |
transmembrane protein 165 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397
|
|
|
G |
ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
|
|
G |
ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
|
|
G |
ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
|
|
G |
ATP6V0B |
ATPase H+ transporting V0 subunit b |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
|
|
G |
ATP6V0C |
ATPase H+ transporting V0 subunit c |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1D |
ATPase H+ transporting V1 subunit D |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
|
|
G |
ATP6V1F |
ATPase H+ transporting V1 subunit F |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
|
|
G |
ATP6V1H |
ATPase H+ transporting V1 subunit H |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
|
|
G |
RNASEK |
ribonuclease K |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
|
|
|
G |
ANK2 |
ankyrin 2 |
involved_in |
ISS |
|
BHF-UCL |
|
GO_REF:0000024 |
NCBI chr 4:112,705,622...113,383,736
Ensembl chr 4:112,818,032...113,384,221
|
|
G |
ANXA7 |
annexin A7 |
acts_upstream_of_or_within |
ISO |
(PMID:14644162) |
MGI |
PMID:14644162 |
|
NCBI chr10:73,375,101...73,414,058
Ensembl chr10:73,375,101...73,414,076
|
|
G |
APOE |
apolipoprotein E |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:8185566) |
Ensembl MGI |
PMID:8185566 |
GO_REF:0000107 |
NCBI chr19:44,905,796...44,909,393
Ensembl chr19:44,905,791...44,909,393
|
|
G |
ATF4 |
activating transcription factor 4 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:27812542) |
Ensembl MGI |
PMID:27812542 |
GO_REF:0000107 |
NCBI chr22:39,520,559...39,522,686
Ensembl chr22:39,519,695...39,522,686
|
|
G |
ATP13A1 |
ATPase 13A1 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:19,645,198...19,663,676
Ensembl chr19:19,645,198...19,663,676
|
|
G |
ATP13A2 |
ATPase cation transporting 13A2 |
involved_in |
IDA IBA |
(PMID:22186024) |
ParkinsonsUK-UCL GO_Central |
PMID:22186024 |
GO_REF:0000033 |
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
|
|
G |
ATP13A3 |
ATPase 13A3 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:194,402,677...194,494,334
Ensembl chr 3:194,402,672...194,498,364
|
|
G |
ATP13A4 |
ATPase 13A4 |
involved_in acts_upstream_of_or_within |
IBA ISO |
(PMID:19731010) |
GO_Central MGI |
PMID:19731010 |
GO_REF:0000033 |
NCBI chr 3:193,398,967...193,593,119
Ensembl chr 3:193,398,967...193,593,111
|
|
G |
ATP13A5 |
ATPase 13A5 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 3:193,274,789...193,378,753
Ensembl chr 3:193,274,789...193,378,820
|
|
G |
ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
involved_in |
ISS IEA |
|
BHF-UCL Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
|
|
G |
ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
|
|
G |
ATP2A2 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 |
involved_in acts_upstream_of_or_within |
IMP ISO IBA IEA IDA |
(PMID:18068335) (PMID:12756243) (PMID:9887021) (PMID:12756243), (PMID:21106823) (PMID:10587333) |
ARUK-UCL MGI GO_Central Ensembl BHF-UCL |
PMID:9887021 PMID:10587333 PMID:12756243 PMID:18068335 PMID:21106823 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr12:110,280,616...110,351,093
Ensembl chr12:110,280,756...110,351,093
|
|
G |
ATP2A3 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 |
involved_in |
IMP IBA |
(PMID:18068335) |
ARUK-UCL GO_Central |
PMID:18068335 |
GO_REF:0000033 |
NCBI chr17:3,923,873...3,964,437
Ensembl chr17:3,923,868...3,964,464
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G |
ATP2B1 |
ATPase plasma membrane Ca2+ transporting 1 |
involved_in |
IEA |
|
Ensembl |
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GO_REF:0000107 |
NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366
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G |
ATP2B2 |
ATPase plasma membrane Ca2+ transporting 2 |
acts_upstream_of_or_within |
ISO |
(PMID:11985881) (PMID:17234811) |
MGI |
PMID:11985881 PMID:17234811 |
|
NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
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ATP2B4 |
ATPase plasma membrane Ca2+ transporting 4 |
involved_in |
IEA IDA IC ISS |
(PMID:19278978), (PMID:25798335) (PMID:8530416) |
Ensembl BHF-UCL UniProt |
PMID:8530416 PMID:19278978 PMID:25798335 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:203,626,832...203,744,081
Ensembl chr 1:203,626,832...203,744,081
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G |
ATP2C1 |
ATPase secretory pathway Ca2+ transporting 1 |
involved_in |
ISO IBA IDA IMP |
(PMID:12707275), (PMID:12810057) (PMID:10615129) |
RGD GO_Central UniProt |
PMID:10615129 PMID:12707275 PMID:12810057 PMID:14747290 |
GO_REF:0000033 RGD:1581798 |
NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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G |
ATP2C2 |
ATPase secretory pathway Ca2+ transporting 2 |
involved_in |
IBA |
|
GO_Central |
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GO_REF:0000033 |
NCBI chr16:84,368,538...84,464,187
Ensembl chr16:84,368,527...84,464,187
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G |
BCL2 |
BCL2 apoptosis regulator |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:7945396) |
Ensembl MGI |
PMID:7945396 |
GO_REF:0000107 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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G |
C5 |
complement C5 |
|
ISO |
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RGD |
PMID:10532591 |
RGD:1600657 |
NCBI chr 9:120,952,335...121,074,865
Ensembl chr 9:120,932,987...121,075,195
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G |
CACNA1C |
calcium voltage-gated channel subunit alpha1 C |
acts_upstream_of_or_within |
ISO |
(PMID:15132976) |
MGI |
PMID:15132976 |
|
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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G |
CACNA1F |
calcium voltage-gated channel subunit alpha1 F |
acts_upstream_of_or_within |
ISO |
(PMID:16155113) |
MGI |
PMID:16155113 |
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NCBI chr X:49,205,063...49,233,340
Ensembl chr X:49,205,063...49,233,371
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G |
CALCA |
calcitonin related polypeptide alpha |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12488435) |
Ensembl MGI |
PMID:12488435 |
GO_REF:0000107 |
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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G |
CALCB |
calcitonin related polypeptide beta |
involved_in |
TAS |
(PMID:2985435) |
PINC |
PMID:2985435 |
|
NCBI chr11:15,073,593...15,078,637
Ensembl chr11:14,904,997...15,082,342
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G |
CALR |
calreticulin |
involved_in |
TAS |
(PMID:11149926) |
UniProt |
PMID:11149926 |
|
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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G |
CASQ2 |
calsequestrin 2 |
involved_in |
IMP |
(PMID:16908766) |
BHF-UCL |
PMID:16908766 |
|
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
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G |
CASR |
calcium sensing receptor |
involved_in |
ISO IBA IEA TAS IDA |
(PMID:7874174) (PMID:27434672) |
RGD GO_Central Ensembl PINC UniProt |
PMID:7874174 PMID:12065312 PMID:27434672 |
GO_REF:0000033 GO_REF:0000107 RGD:628315 |
NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629
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G |
CAV1 |
caveolin 1 |
acts_upstream_of_or_within involved_in |
ISO ISS IEA |
(PMID:17098833) |
RGD MGI BHF-UCL Ensembl |
PMID:17098833 PMID:17337601 |
GO_REF:0000024 GO_REF:0000107 RGD:2289122 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CCL1 |
C-C motif chemokine ligand 1 |
involved_in |
TAS |
(PMID:9417093) |
PINC |
PMID:9417093 |
|
NCBI chr17:34,360,328...34,363,233
Ensembl chr17:34,360,328...34,363,233
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G |
CCL11 |
C-C motif chemokine ligand 11 |
involved_in |
TAS |
(PMID:10415069) |
PINC |
PMID:10415069 |
|
NCBI chr17:34,285,742...34,288,334
Ensembl chr17:34,285,742...34,288,334
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G |
CCL13 |
C-C motif chemokine ligand 13 |
involved_in |
TAS |
(PMID:9195948) |
PINC |
PMID:9195948 |
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NCBI chr17:34,356,480...34,358,610
Ensembl chr17:34,356,480...34,358,610
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G |
CCL14 |
C-C motif chemokine ligand 14 |
involved_in |
TAS |
(PMID:8551235) |
PINC |
PMID:8551235 |
|
NCBI chr17:35,983,288...35,986,729
Ensembl chr17:35,983,288...35,987,004
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G |
CCL15 |
C-C motif chemokine ligand 15 |
involved_in |
TAS |
(PMID:9346309) |
PINC |
PMID:9346309 |
|
NCBI chr17:35,997,582...36,001,553
Ensembl chr17:35,996,440...36,001,553
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G |
CCL19 |
C-C motif chemokine ligand 19 |
involved_in |
TAS |
(PMID:9153236) |
PINC |
PMID:9153236 |
|
NCBI chr 9:34,689,570...34,691,276
Ensembl chr 9:34,689,570...34,691,276
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G |
CCL2 |
C-C motif chemokine ligand 2 |
|
ISO |
|
RGD |
PMID:15978006 |
RGD:1625372 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CCL23 |
C-C motif chemokine ligand 23 |
involved_in |
TAS |
(PMID:9886417) |
PINC |
PMID:9886417 |
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NCBI chr17:36,013,058...36,017,972
Ensembl chr17:36,013,056...36,017,972
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G |
CCL3 |
C-C motif chemokine ligand 3 |
involved_in |
IDA |
(PMID:10072545), (PMID:10734056), (PMID:21403648) |
UniProt |
PMID:10072545 PMID:10734056 PMID:21403648 |
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NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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G |
CCL5 |
C-C motif chemokine ligand 5 |
involved_in |
IDA |
(PMID:10734056) |
UniProt |
PMID:10734056 |
|
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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G |
CCL7 |
C-C motif chemokine ligand 7 |
involved_in |
TAS |
(PMID:10770925) |
PINC |
PMID:10770925 |
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NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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G |
CCL8 |
C-C motif chemokine ligand 8 |
involved_in |
IDA |
(PMID:10734056) |
UniProt |
PMID:10734056 |
|
NCBI chr17:34,319,435...34,321,402
Ensembl chr17:34,319,435...34,321,402
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G |
CCR1 |
C-C motif chemokine receptor 1 |
involved_in |
IDA |
(PMID:10734056) |
UniProt |
PMID:10734056 |
|
NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
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G |
CCR2 |
C-C motif chemokine receptor 2 |
involved_in |
ISO ISS |
|
RGD BHF-UCL |
PMID:15978006 |
GO_REF:0000024 RGD:1625372 |
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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G |
CD40 |
CD40 molecule |
involved_in |
IEA IMP |
(PMID:21410936) |
Ensembl BHF-UCL |
PMID:21410936 |
GO_REF:0000107 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CDH5 |
cadherin 5 |
involved_in |
IDA |
(PMID:23159740) |
ARUK-UCL |
PMID:23159740 |
|
NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784
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|
G |
CHERP |
calcium homeostasis endoplasmic reticulum protein |
acts_upstream_of_or_within involved_in |
IDA IBA |
(PMID:10794731) |
MGI GO_Central |
PMID:10794731 |
GO_REF:0000033 |
NCBI chr19:16,517,894...16,542,437
Ensembl chr19:16,517,894...16,542,437
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G |
CHRFAM7A |
CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion |
involved_in |
IMP |
(PMID:16280133) |
UniProt |
PMID:16280133 |
|
NCBI chr15:30,360,566...30,393,900
Ensembl chr15:30,360,566...30,393,849
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
involved_in |
IMP |
(PMID:16280133) |
UniProt |
PMID:16280133 |
|
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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|
G |
CSRP3 |
cysteine and glycine rich protein 3 |
involved_in acts_upstream_of_or_within |
ISS ISO IEA |
(PMID:10555147) |
BHF-UCL MGI Ensembl |
PMID:10555147 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr11:19,182,030...19,201,983
Ensembl chr11:19,182,030...19,210,571
|
|
G |
CTRC |
chymotrypsin C |
acts_upstream_of_or_within |
IDA |
(PMID:8635596) |
MGI |
PMID:8635596 |
|
NCBI chr 1:15,438,443...15,449,242
Ensembl chr 1:15,438,442...15,449,242
|
|
G |
CXCL12 |
C-X-C motif chemokine ligand 12 |
involved_in |
TAS |
(PMID:10772939) |
PINC |
PMID:10772939 |
|
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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|
G |
DHRS7C |
dehydrogenase/reductase 7C |
involved_in |
IEA IBA ISS |
|
Ensembl GO_Central UniProt |
|
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr17:9,771,438...9,791,592
Ensembl chr17:9,771,434...9,791,592
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G |
DMPK |
DM1 protein kinase |
involved_in |
ISS IBA IEA |
|
UniProt GO_Central Ensembl |
|
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552
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G |
DRD2 |
dopamine receptor D2 |
involved_in |
IDA |
(PMID:7921596) |
BHF-UCL |
PMID:7921596 |
|
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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G |
DRD3 |
dopamine receptor D3 |
involved_in |
IDA |
(PMID:7911712) |
BHF-UCL |
PMID:7911712 |
|
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
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G |
DRD4 |
dopamine receptor D4 |
involved_in |
IDA |
(PMID:7921596) |
BHF-UCL |
PMID:7921596 |
|
NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
|
|
G |
DRD5 |
dopamine receptor D5 |
involved_in |
TAS |
(PMID:9457173) |
BHF-UCL |
PMID:9457173 |
|
NCBI chr 4:9,781,634...9,784,009
Ensembl chr 4:9,781,634...9,784,009
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G |
EDN1 |
endothelin 1 |
involved_in |
IDA IBA |
(PMID:30990108) |
MGI GO_Central |
PMID:30990108 |
GO_REF:0000033 |
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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G |
EDN2 |
endothelin 2 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:41,478,775...41,484,683
Ensembl chr 1:41,478,775...41,484,683
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G |
EDN3 |
endothelin 3 |
involved_in acts_upstream_of_or_within |
IEA IBA ISO |
(PMID:23122227) |
Ensembl GO_Central MGI |
PMID:23122227 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
|
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G |
EDNRA |
endothelin receptor type A |
involved_in |
IDA |
(PMID:30990108) |
MGI |
PMID:30990108 |
|
NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954
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|
G |
EIF3E |
eukaryotic translation initiation factor 3 subunit E |
|
ISO |
|
RGD |
PMID:23737983 |
RGD:10755504 |
NCBI chr 8:108,201,216...108,248,717
Ensembl chr 8:108,162,787...108,443,496
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|
G |
ELANE |
elastase, neutrophil expressed |
involved_in |
NAS |
(PMID:15140022) |
UniProt |
PMID:15140022 |
|
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
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|
G |
GCM2 |
glial cells missing transcription factor 2 |
involved_in |
IMP |
(PMID:15728199) |
UniProt |
PMID:15728199 |
|
NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
|
|
G |
GPR12 |
G protein-coupled receptor 12 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12574419) |
Ensembl MGI |
PMID:12574419 |
GO_REF:0000107 |
NCBI chr13:26,755,200...26,760,786
Ensembl chr13:26,755,200...26,760,786
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|
G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:16219388) |
Ensembl MGI |
PMID:16219388 |
GO_REF:0000107 |
NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
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|
G |
GRIN1 |
glutamate ionotropic receptor NMDA type subunit 1 |
acts_upstream_of_or_within |
ISO |
(PMID:8060614) |
MGI |
PMID:8060614 |
|
NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756
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G |
GRIN2B |
glutamate ionotropic receptor NMDA type subunit 2B |
|
ISO |
|
RGD |
PMID:20168047 |
RGD:2325881 |
NCBI chr12:13,537,337...13,982,134
Ensembl chr12:13,437,942...13,982,002
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|
G |
HERPUD1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:15102845 |
GO_REF:0000107 RGD:1304324 |
NCBI chr16:56,932,142...56,944,864
Ensembl chr16:56,932,142...56,944,864
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|
G |
HEXB |
hexosaminidase subunit beta |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12756243) |
Ensembl MGI |
PMID:12756243 |
GO_REF:0000107 |
NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647
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G |
HTR2A |
5-hydroxytryptamine receptor 2A |
involved_in |
IDA |
(PMID:19057895) |
UniProt |
PMID:19057895 |
|
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
|
|
G |
HTR2B |
5-hydroxytryptamine receptor 2B |
involved_in |
IDA |
(PMID:19057895) |
UniProt |
PMID:19057895 |
|
NCBI chr 2:231,108,230...231,125,042
Ensembl chr 2:231,108,230...231,125,042
|
|
G |
HTR2C |
5-hydroxytryptamine receptor 2C |
involved_in |
IDA |
(PMID:19057895) |
UniProt |
PMID:19057895 |
|
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
|
|
G |
INPP4B |
inositol polyphosphate-4-phosphatase type II B |
acts_upstream_of_or_within |
ISO |
(PMID:21982707) |
MGI |
PMID:21982707 |
|
NCBI chr 4:142,023,160...142,846,535
Ensembl chr 4:142,023,160...142,847,432
|
|
G |
KEL |
Kell metallo-endopeptidase (Kell blood group) |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:23122227) |
Ensembl MGI |
PMID:23122227 |
GO_REF:0000107 |
NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363
|
|
G |
NPPC |
natriuretic peptide C |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
|
|
G |
NPTN |
neuroplastin |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr15:73,560,014...73,633,389
Ensembl chr15:73,560,014...73,634,134
|
|
G |
PIK3CB |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15834429) |
Ensembl MGI |
PMID:15834429 |
GO_REF:0000107 |
NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,336...138,834,928
|
|
G |
PKD2 |
polycystin 2, transient receptor potential cation channel |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12874107) |
Ensembl MGI |
PMID:12874107 |
GO_REF:0000107 |
NCBI chr 4:88,007,635...88,077,777
Ensembl chr 4:88,007,635...88,077,777
|
|
G |
PKHD1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
involved_in |
IMP |
(PMID:17669261) |
UniProt |
PMID:17669261 |
|
NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613
|
|
G |
PLN |
phospholamban |
involved_in acts_upstream_of_or_within |
IEA ISO ISS |
(PMID:10555147) |
Ensembl MGI UniProt |
PMID:10555147 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716
|
|
G |
PRKCA |
protein kinase C alpha |
acts_upstream_of_or_within |
ISO |
(PMID:14966518) |
MGI |
PMID:14966518 |
|
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
|
|
G |
PRKCB |
protein kinase C beta |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:11880265) |
Ensembl MGI |
PMID:11880265 |
GO_REF:0000107 |
NCBI chr16:23,835,983...24,220,611
Ensembl chr16:23,835,983...24,220,611
|
|
G |
PSEN1 |
presenilin 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12431992) |
Ensembl MGI |
PMID:12431992 |
GO_REF:0000107 |
NCBI chr14:73,136,417...73,223,691
Ensembl chr14:73,136,418...73,223,691
|
|
G |
PTH |
parathyroid hormone |
acts_upstream_of_or_within involved_in |
ISO IEA |
(PMID:12488435) PMID:9832460 |
RGD MGI Ensembl InterPro |
PMID:9832460 PMID:12488435 |
GO_REF:0000002 GO_REF:0000107 RGD:1601517 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
|
|
G |
PTH1R |
parathyroid hormone 1 receptor |
involved_in acts_upstream_of_or_within |
IEA ISO IBA |
(PMID:9832460) |
Ensembl MGI GO_Central |
PMID:9832460 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
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PYGM |
glycogen phosphorylase, muscle associated |
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ISO |
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RGD |
PMID:8810099 |
RGD:1599992 |
NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
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RGN |
regucalcin |
involved_in |
ISS IEA |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr X:47,078,443...47,093,313
Ensembl chr X:47,078,355...47,093,314
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RMDN3 |
regulator of microtubule dynamics 3 |
involved_in |
IMP |
(PMID:22131369) |
UniProt |
PMID:22131369 |
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NCBI chr15:40,735,887...40,755,254
Ensembl chr15:40,735,884...40,755,851
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RYR1 |
ryanodine receptor 1 |
involved_in |
IEA |
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InterPro |
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GO_REF:0000002 |
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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RYR2 |
ryanodine receptor 2 |
involved_in |
ISS IEA |
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UniProt InterPro Ensembl |
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GO_REF:0000002 GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
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RYR3 |
ryanodine receptor 3 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:9384575) |
InterPro MGI |
PMID:9384575 |
GO_REF:0000002 |
NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121
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SLC10A7 |
solute carrier family 10 member 7 |
involved_in |
IMP |
(PMID:30082715) |
UniProt |
PMID:30082715 |
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NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
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SLC24A1 |
solute carrier family 24 member 1 |
acts_upstream_of_or_within involved_in |
IDA IBA |
(PMID:26631410) |
ARUK-UCL GO_Central |
PMID:26631410 |
GO_REF:0000033 |
NCBI chr15:65,611,350...65,661,002
Ensembl chr15:65,611,366...65,660,995
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SLC24A2 |
solute carrier family 24 member 2 |
acts_upstream_of_or_within involved_in |
IDA IBA IEA |
(PMID:26631410) |
ARUK-UCL GO_Central Ensembl |
PMID:26631410 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr 9:19,507,455...20,307,892
Ensembl chr 9:19,507,452...19,789,037
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SLC24A3 |
solute carrier family 24 member 3 |
acts_upstream_of_or_within involved_in |
ISS IBA IEA IDA |
(PMID:26631410) |
ARUK-UCL GO_Central Ensembl |
PMID:26631410 |
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr20:19,212,642...19,722,926
Ensembl chr20:19,212,642...19,722,926
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SLC24A4 |
solute carrier family 24 member 4 |
acts_upstream_of_or_within involved_in |
IDA IBA |
(PMID:26631410) |
ARUK-UCL GO_Central |
PMID:26631410 |
GO_REF:0000033 |
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
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SLC24A5 |
solute carrier family 24 member 5 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr15:48,120,990...48,142,672
Ensembl chr15:48,120,990...48,142,672
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SLC30A1 |
solute carrier family 30 member 1 |
involved_in |
ISS IEA |
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BHF-UCL Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:211,571,568...211,579,161
Ensembl chr 1:211,571,568...211,579,161
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SLC37A4 |
solute carrier family 37 member 4 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12925567), (PMID:16891306) |
Ensembl MGI |
PMID:12925567 PMID:16891306 |
GO_REF:0000107 |
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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SLC8A1 |
solute carrier family 8 member A1 |
acts_upstream_of_or_within |
ISO ISS |
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RGD ARUK-UCL |
PMID:12234816 |
GO_REF:0000024 RGD:1581355 |
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
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G |
SLC8A2 |
solute carrier family 8 member A2 |
acts_upstream_of_or_within involved_in |
ISS IEA |
|
ARUK-UCL UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr19:47,428,017...47,471,893
Ensembl chr19:47,428,017...47,471,893
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G |
SLC8A3 |
solute carrier family 8 member A3 |
acts_upstream_of_or_within involved_in |
ISS IEA |
|
ARUK-UCL Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
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G |
SLC8B1 |
solute carrier family 8 member B1 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
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G |
SPP1 |
secreted phosphoprotein 1 |
acts_upstream_of_or_within |
ISO |
(PMID:17898038) |
MGI |
PMID:17898038 |
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NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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SPPL2C |
signal peptide peptidase like 2C |
involved_in |
ISS IEA |
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr17:45,844,881...45,847,067
Ensembl chr17:45,844,881...45,847,067
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G |
STC1 |
stanniocalcin 1 |
involved_in |
IDA IEA IBA |
(PMID:12663264), (PMID:8700837) |
UniProt GO_Central |
PMID:8700837 PMID:12663264 |
GO_REF:0000033 GO_REF:0000104 |
NCBI chr 8:23,841,929...23,854,806
Ensembl chr 8:23,841,929...23,854,806
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G |
STC2 |
stanniocalcin 2 |
acts_upstream_of_or_within involved_in |
ISO IBA IEA |
PMID:21746875 (PMID:21746875) |
MGI GO_Central UniProt Ensembl |
PMID:21746875 |
GO_REF:0000033 GO_REF:0000104 GO_REF:0000107 RGD:8553795 |
NCBI chr 5:173,314,723...173,328,414
Ensembl chr 5:173,314,723...173,328,447
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G |
STIM1 |
stromal interaction molecule 1 |
involved_in |
IBA |
|
GO_Central |
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GO_REF:0000033 |
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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G |
STIM2 |
stromal interaction molecule 2 |
involved_in |
IMP IBA IEA |
(PMID:18160041) |
UniProt GO_Central InterPro |
PMID:18160041 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr 4:26,860,841...27,025,381
Ensembl chr 4:26,857,601...27,025,381
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G |
STOML2 |
stomatin like 2 |
involved_in |
IMP |
(PMID:19944461) |
UniProt |
PMID:19944461 |
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NCBI chr 9:35,099,776...35,103,195
Ensembl chr 9:35,099,776...35,103,195
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G |
SV2A |
synaptic vesicle glycoprotein 2A |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:10624962) |
Ensembl MGI |
PMID:10624962 |
GO_REF:0000107 |
NCBI chr 1:149,903,318...149,917,844
Ensembl chr 1:149,903,318...149,917,844
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SYPL2 |
synaptophysin like 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:14559251) |
Ensembl MGI |
PMID:14559251 |
GO_REF:0000107 |
NCBI chr 1:109,466,546...109,482,134
Ensembl chr 1:109,466,546...109,482,134
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G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:19448635) |
Ensembl MGI |
PMID:19448635 |
GO_REF:0000107 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TGFB1 |
transforming growth factor beta 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:12646629) |
Ensembl MGI |
PMID:12646629 |
GO_REF:0000107 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TMEM165 |
transmembrane protein 165 |
involved_in |
IGI |
(PMID:23569283) |
UniProt |
PMID:23569283 |
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NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397
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G |
TMEM203 |
transmembrane protein 203 |
involved_in |
IEA IBA IDA |
(PMID:25996873) |
Ensembl GO_Central UniProt |
PMID:25996873 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648
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G |
TNNI3 |
troponin I3, cardiac type |
involved_in acts_upstream_of_or_within |
IEA ISO ISS |
(PMID:11356618) (PMID:11158984) |
Ensembl MGI UniProt |
PMID:11158984 PMID:11356618 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773
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G |
TPCN2 |
two pore segment channel 2 |
involved_in |
IDA |
(PMID:19387438) |
UniProt |
PMID:19387438 |
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NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316
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G |
TPT1 |
tumor protein, translationally-controlled 1 |
involved_in |
IC |
(PMID:15958728) |
UniProt |
PMID:15958728 |
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NCBI chr13:45,333,471...45,341,183
Ensembl chr13:45,333,471...45,341,284
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G |
TRDN |
triadin |
involved_in |
ISO ISS |
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RGD BHF-UCL |
PMID:18845610 |
GO_REF:0000024 RGD:2314599 |
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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G |
TRPA1 |
transient receptor potential cation channel subfamily A member 1 |
involved_in |
IDA |
(PMID:30990108) |
MGI |
PMID:30990108 |
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NCBI chr 8:72,021,250...72,090,010
Ensembl chr 8:72,019,917...72,075,584
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G |
TRPM8 |
transient receptor potential cation channel subfamily M member 8 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:11893340) |
Ensembl MGI |
PMID:11893340 |
GO_REF:0000107 |
NCBI chr 2:233,917,373...234,019,522
Ensembl chr 2:233,917,373...234,019,522
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
involved_in |
IEA IDA |
(PMID:12724311) |
Ensembl UniProt |
PMID:12724311 |
GO_REF:0000107 |
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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G |
UMOD |
uromodulin |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:17898038) |
Ensembl MGI |
PMID:17898038 |
GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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G |
VAPB |
VAMP associated protein B and C |
involved_in |
IMP |
(PMID:22131369) |
UniProt |
PMID:22131369 |
|
NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
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G |
VDR |
vitamin D receptor |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:9241280) |
Ensembl MGI |
PMID:9241280 |
GO_REF:0000107 |
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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G |
VPS54 |
VPS54 subunit of GARP complex |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428
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G |
XK |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:23122227) |
Ensembl MGI |
PMID:23122227 |
GO_REF:0000107 |
NCBI chr X:37,685,791...37,732,130
Ensembl chr X:37,685,791...37,732,130
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G |
ABCC2 |
ATP binding cassette subfamily C member 2 |
|
ISO |
|
RGD |
PMID:12085350 |
RGD:1598603 |
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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|
G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
acts_upstream_of_or_within |
ISO |
(PMID:8565963) (PMID:10899223) |
MGI |
PMID:8565963 PMID:10899223 |
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NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
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G |
CKB |
creatine kinase B |
|
ISO |
|
RGD |
PMID:16336223 |
RGD:1598443 |
NCBI chr14:103,519,667...103,522,830
Ensembl chr14:103,519,667...103,522,833
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G |
FASLG |
Fas ligand |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:18045865 |
GO_REF:0000107 RGD:2315735 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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|
G |
KCNE3 |
potassium voltage-gated channel subfamily E regulatory subunit 3 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729
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G |
KCNQ1 |
potassium voltage-gated channel subfamily Q member 1 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
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G |
PTK2 |
protein tyrosine kinase 2 |
|
ISO |
|
RGD |
PMID:16040720 |
RGD:2292600 |
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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G |
SLC12A2 |
solute carrier family 12 member 2 |
acts_upstream_of_or_within |
TAS ISS |
(PMID:16227993) |
ARUK-UCL |
PMID:16227993 |
GO_REF:0000024 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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G |
SLC12A5 |
solute carrier family 12 member 5 |
involved_in |
IDA |
(PMID:26333769) |
UniProt |
PMID:26333769 |
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NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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G |
SPP1 |
secreted phosphoprotein 1 |
acts_upstream_of_or_within |
ISO |
(PMID:17898038) |
MGI |
PMID:17898038 |
|
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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G |
STK39 |
serine/threonine kinase 39 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 2:167,954,022...168,247,595
Ensembl chr 2:167,954,020...168,247,595
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G |
TBXAS1 |
thromboxane A synthase 1 |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:12023941 |
GO_REF:0000107 RGD:1601458 |
NCBI chr 7:139,778,242...140,020,293
Ensembl chr 7:139,777,051...140,020,325
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G |
UMOD |
uromodulin |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:17898038) (PMID:21737451) |
Ensembl MGI |
PMID:17898038 PMID:21737451 |
GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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G |
WNK1 |
WNK lysine deficient protein kinase 1 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
|
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G |
WNK4 |
WNK lysine deficient protein kinase 4 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr17:42,780,610...42,797,066
Ensembl chr17:42,780,610...42,797,066
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G |
ABCB6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
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G |
ANKRD9 |
ankyrin repeat domain 9 |
involved_in |
IMP |
(PMID:24522796) |
UniProt |
PMID:24522796 |
|
NCBI chr14:102,501,767...102,509,776
Ensembl chr14:102,501,767...102,509,799
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G |
APLP2 |
amyloid beta precursor like protein 2 |
acts_upstream_of_or_within |
ISO |
(PMID:10526140) |
MGI |
PMID:10526140 |
|
NCBI chr11:130,069,894...130,144,805
Ensembl chr11:130,068,147...130,144,811
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G |
APP |
amyloid beta precursor protein |
involved_in acts_upstream_of_or_within |
IEA ISO ISS |
(PMID:15447675) (PMID:10526140) |
Ensembl MGI UniProt |
PMID:10526140 PMID:15447675 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr21:25,880,550...26,171,128
Ensembl chr21:25,880,535...26,171,128
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G |
ARF1 |
ARF GTPase 1 |
involved_in |
IMP |
(PMID:21034850) |
UniProt |
PMID:21034850 |
|
NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212
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G |
ATOX1 |
antioxidant 1 copper chaperone |
involved_in acts_upstream_of_or_within |
IEA ISO TAS |
(PMID:11391006) (PMID:9430722) |
Ensembl MGI PINC |
PMID:9430722 PMID:11391006 |
GO_REF:0000107 |
NCBI chr 5:151,742,822...151,758,631
Ensembl chr 5:151,742,316...151,772,532
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ATP7A |
ATPase copper transporting alpha |
involved_in acts_upstream_of_or_within |
IMP IBA ISO |
(PMID:16397091), (PMID:28389643) (PMID:8096378) (PMID:1779648), (PMID:7688531), (PMID:7873696), (PMID:9686356) (PMID:16338116) (PMID:10332039), (PMID:187892) (PMID:8640230) (PMID:27591), (PMID:3674914), (PMID:4858102), (PMID:6685755), (PMID:7197928) (PMID:11311799), (PMID:564942), (PMID:571898), (PMID:573617), (PMID:573619), (PMID:8025644) (PMID:9321757) |
UniProt GO_Central MGI |
PMID:27591 PMID:187892 PMID:564942 PMID:571898 PMID:573617 PMID:573619 PMID:1779648 PMID:3674914 PMID:4858102 PMID:6685755 PMID:7197928 PMID:7688531 PMID:7873696 PMID:8025644 PMID:8096378 PMID:8640230 PMID:9321757 PMID:9686356 PMID:10332039 PMID:11311799 PMID:16338116 PMID:16397091 PMID:28389643 More...
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GO_REF:0000033 MGI:60964 MGI:61151 MGI:63873 |
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
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|
G |
ATP7B |
ATPase copper transporting beta |
involved_in acts_upstream_of_or_within |
TAS IBA ISO IEA |
(PMID:16554302) (PMID:10441329) (PMID:11085952), (PMID:1588441), (PMID:2845190), (PMID:6863890), (PMID:8040371), (PMID:8257436), (PMID:9392450), (PMID:9484715) |
UniProt GO_Central MGI Ensembl |
PMID:1588441 PMID:2845190 PMID:6863890 PMID:8040371 PMID:8257436 PMID:9392450 PMID:9484715 PMID:10441329 PMID:11085952 PMID:16554302 More...
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GO_REF:0000033 GO_REF:0000107 |
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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|
G |
CCDC22 |
coiled-coil domain containing 22 |
involved_in |
IMP |
(PMID:25355947) |
UniProt |
PMID:25355947 |
|
NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520
|
|
G |
COX19 |
cytochrome c oxidase assembly factor COX19 |
involved_in |
IMP |
(PMID:23345593) |
UniProt |
PMID:23345593 |
|
NCBI chr 7:964,852...975,549
Ensembl chr 7:898,778...975,549
|
|
G |
CP |
ceruloplasmin |
involved_in |
IDA |
(PMID:14623105) |
UniProt |
PMID:14623105 |
|
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
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|
G |
MT2A |
metallothionein 2A |
involved_in |
TAS |
(PMID:6719135) |
PINC |
PMID:6719135 |
|
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
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|
G |
PRND |
prion like protein doppel |
involved_in acts_upstream_of_or_within |
IEA ISO IBA |
(PMID:12482851) |
Ensembl MGI GO_Central |
PMID:12482851 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr20:4,721,909...4,728,460
Ensembl chr20:4,721,909...4,728,460
|
|
G |
PRNP |
prion protein (Kanno blood group) |
involved_in |
NAS |
(PMID:16004966) |
UniProt |
PMID:16004966 |
|
NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
|
|
G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:25683716) (PMID:28647369) (PMID:28973536) |
InterPro MGI |
PMID:25683716 PMID:28647369 PMID:28973536 |
GO_REF:0000002 |
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
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|
G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
involved_in |
IEA |
|
InterPro |
|
GO_REF:0000002 |
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
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|
G |
SLC30A10 |
solute carrier family 30 member 10 |
NOT|involved_in |
IDA |
(PMID:25319704) |
UniProt |
PMID:25319704 |
|
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
|
|
G |
SLC31A1 |
solute carrier family 31 member 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:24167251) |
Ensembl MGI |
PMID:24167251 |
GO_REF:0000107 |
NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,544...113,264,492
|
|
G |
SLC31A2 |
solute carrier family 31 member 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:24167251) |
Ensembl MGI |
PMID:24167251 |
GO_REF:0000107 |
NCBI chr 9:113,151,007...113,164,140
Ensembl chr 9:113,150,976...113,164,140
|
|
|
G |
ABCB6 |
ATP binding cassette subfamily B member 6 (LAN blood group) |
involved_in |
NAS |
(PMID:11977179) |
UniProt |
PMID:11977179 |
|
NCBI chr 2:219,209,772...219,218,958
Ensembl chr 2:219,209,772...219,218,994
|
|
G |
ABCB7 |
ATP binding cassette subfamily B member 7 |
involved_in acts_upstream_of_or_within |
ISS ISO IBA IEA IMP |
(PMID:16424901) (PMID:30765471) |
UniProt MGI GO_Central Ensembl |
PMID:16424901 PMID:30765471 |
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
|
|
G |
ACO1 |
aconitase 1 |
involved_in acts_upstream_of_or_within |
ISO IBA TAS IEA |
(PMID:14726953) |
RGD GO_Central Reactome MGI Ensembl |
PMID:14726953 PMID:15086359 |
GO_REF:0000033 GO_REF:0000107 RGD:1642737 Reactome:R-HSA-917937 |
NCBI chr 9:32,384,643...32,454,769
Ensembl chr 9:32,384,603...32,454,769
|
|
G |
ACVR2B |
activin A receptor type 2B |
involved_in |
IDA |
(PMID:31800957) |
UniProt |
PMID:31800957 |
|
NCBI chr 3:38,453,890...38,493,142
Ensembl chr 3:38,453,890...38,493,142
|
|
G |
ALAS2 |
5'-aminolevulinate synthase 2 |
involved_in acts_upstream_of_or_within |
ISS ISO IEA |
(PMID:10562540) |
UniProt MGI Ensembl |
PMID:10562540 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr X:55,009,055...55,030,977
Ensembl chr X:55,009,055...55,030,977
|
|
G |
ATP13A2 |
ATPase cation transporting 13A2 |
involved_in |
IMP |
(PMID:26818499) |
ParkinsonsUK-UCL |
PMID:26818499 |
|
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
|
|
G |
ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
|
NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
|
|
G |
ATP6V0A2 |
ATPase H+ transporting V0 subunit a2 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
|
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
|
|
G |
ATP6V0D1 |
ATPase H+ transporting V0 subunit d1 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
|
NCBI chr16:67,438,019...67,481,157
Ensembl chr16:67,438,014...67,481,181
|
|
G |
ATP6V1A |
ATPase H+ transporting V1 subunit A |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
|
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
|
|
G |
ATP6V1G1 |
ATPase H+ transporting V1 subunit G1 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
|
NCBI chr 9:114,587,769...114,598,879
Ensembl chr 9:114,587,706...114,598,915
|
|
G |
B2M |
beta-2-microglobulin |
involved_in |
IDA |
(PMID:18353247) |
BHF-UCL |
PMID:18353247 |
|
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
|
|
G |
BMP6 |
bone morphogenetic protein 6 |
involved_in acts_upstream_of_or_within |
IEA ISO ISS |
(PMID:21703414) |
Ensembl MGI BHF-UCL |
PMID:21703414 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
|
|
G |
BOLA1 |
bolA family member 1 |
involved_in |
NAS |
(PMID:27519415) |
ComplexPortal |
PMID:27519415 |
|
NCBI chr 1:149,899,568...149,900,795
Ensembl chr 1:149,887,890...149,900,798
|
|
G |
BOLA2 |
bolA family member 2 |
involved_in |
IDA IEA IBA |
(PMID:27519415) |
ComplexPortal InterPro GO_Central |
PMID:27519415 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr16:29,453,588...29,454,964
Ensembl chr16:30,192,932...30,194,306 Ensembl chr16:30,192,932...30,194,306
|
|
G |
BOLA2-SMG1P6 |
BOLA2-SMG1P6 readthrough |
involved_in |
IEA |
|
InterPro |
|
GO_REF:0000002 |
NCBI chr16:29,442,905...29,454,964
Ensembl chr16:29,443,230...29,454,651
|
|
G |
BOLA2B |
bolA family member 2B |
involved_in |
IDA IEA IBA |
(PMID:27519415) |
ComplexPortal InterPro GO_Central |
PMID:27519415 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr16:30,192,932...30,193,666
Ensembl chr16:30,192,932...30,194,306
|
|
G |
BOLA3 |
bolA family member 3 |
involved_in |
NAS |
(PMID:27532772) |
ComplexPortal |
PMID:27532772 |
|
NCBI chr 2:74,135,400...74,147,912
Ensembl chr 2:74,135,400...74,147,912
|
|
G |
CCDC115 |
coiled-coil domain containing 115 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
|
NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699
|
|
G |
CISD1 |
CDGSH iron sulfur domain 1 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr10:58,269,162...58,289,586
Ensembl chr10:58,269,162...58,289,586
|
|
G |
CP |
ceruloplasmin |
involved_in |
TAS IDA IMP |
(PMID:9445478) (PMID:14623105) (PMID:16150804), (PMID:29183916) |
PINC UniProt |
PMID:9445478 PMID:14623105 PMID:16150804 PMID:29183916 |
Reactome:R-HSA-917937 |
NCBI chr 3:149,162,414...149,221,829
Ensembl chr 3:149,162,410...149,221,829
|
|
G |
CYB561 |
cytochrome b561 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr17:63,432,304...63,446,639
Ensembl chr17:63,432,304...63,446,354
|
|
G |
CYB561A3 |
cytochrome b561 family member A3 |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr11:61,348,745...61,362,283
Ensembl chr11:61,348,754...61,362,283
|
|
G |
CYBRD1 |
cytochrome b reductase 1 |
involved_in |
IDA |
(PMID:14499595) |
ARUK-UCL |
PMID:14499595 |
|
NCBI chr 2:171,522,233...171,558,129
Ensembl chr 2:171,522,247...171,558,129
|
|
G |
EGLN1 |
egl-9 family hypoxia inducible factor 1 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 1:231,363,756...231,422,287
Ensembl chr 1:231,363,751...231,422,287
|
|
G |
ERFE |
erythroferrone |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:238,158,970...238,168,890
Ensembl chr 2:238,158,970...238,168,900
|
|
G |
FBXL5 |
F-box and leucine rich repeat protein 5 |
involved_in |
IMP IEA IEP |
(PMID:19762596) (PMID:19762597) |
UniProt InterPro |
PMID:19762596 PMID:19762597 |
GO_REF:0000002 |
NCBI chr 4:15,604,381...15,681,569
Ensembl chr 4:15,604,381...15,681,679
|
|
G |
FLVCR1 |
FLVCR choline and heme transporter 1 |
involved_in |
TAS |
|
Reactome |
|
Reactome:R-HSA-917937 |
NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363
|
|
G |
FRRS1 |
ferric chelate reductase 1 |
involved_in |
ISS IBA |
|
ARUK-UCL GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr 1:99,703,970...99,766,635
Ensembl chr 1:99,703,970...99,766,635
|
|
G |
FTH1 |
ferritin heavy chain 1 |
involved_in |
TAS IEA |
(PMID:6589621) |
PINC UniProt InterPro |
PMID:6589621 |
GO_REF:0000002 GO_REF:0000043 |
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
|
|
G |
FTH1P19 |
ferritin heavy chain 1 pseudogene 19 |
involved_in |
IEA |
|
UniProt InterPro |
|
GO_REF:0000002 GO_REF:0000043 |
NCBI chr X:37,491,957...37,492,720
Ensembl chr X:37,492,021...37,492,548
|
|
G |
FTHL17 |
ferritin heavy chain like 17 |
involved_in |
IEA |
|
InterPro UniProt |
|
GO_REF:0000002 GO_REF:0000043 |
NCBI chr X:31,071,233...31,072,041
Ensembl chr X:31,071,233...31,072,041
|
|
G |
FTL |
ferritin light chain |
involved_in |
TAS IEA |
(PMID:7492760) |
PINC InterPro UniProt |
PMID:7492760 |
GO_REF:0000002 GO_REF:0000043 |
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
|
|
G |
FTMT |
ferritin mitochondrial |
involved_in |
IEA IDA |
(PMID:11323407), (PMID:18160053) |
UniProt BHF-UCL InterPro |
PMID:11323407 PMID:18160053 |
GO_REF:0000002 GO_REF:0000043 |
NCBI chr 5:121,851,882...121,852,833
Ensembl chr 5:121,851,882...121,852,833
|
|
G |
FXN |
frataxin |
involved_in acts_upstream_of_or_within |
IMP ISO IEA |
(PMID:18160053) (PMID:9405681) |
BHF-UCL MGI InterPro UniProt Ensembl |
PMID:9405681 PMID:18160053 |
GO_REF:0000002 GO_REF:0000043 GO_REF:0000107 |
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
|
|
G |
GDF2 |
growth differentiation factor 2 |
involved_in |
TAS |
(PMID:20406889) |
DFLAT |
PMID:20406889 |
|
NCBI chr10:47,322,454...47,327,588
Ensembl chr10:47,322,454...47,327,588
|
|
G |
GLRX3 |
glutaredoxin 3 |
involved_in |
IDA IBA |
(PMID:27519415) |
ComplexPortal GO_Central |
PMID:27519415 |
GO_REF:0000033 |
NCBI chr10:130,136,391...130,180,377
Ensembl chr10:130,136,391...130,184,521
|
|
G |
GLRX5 |
glutaredoxin 5 |
involved_in |
NAS |
(PMID:27519415), (PMID:27532772) |
ComplexPortal |
PMID:27519415 PMID:27532772 |
|
NCBI chr14:95,535,050...95,544,714
Ensembl chr14:95,533,503...95,544,724
|
|
G |
HAMP |
hepcidin antimicrobial peptide |
involved_in |
ISO IBA IEA IDA |
(PMID:15514116) |
RGD GO_Central Ensembl CACAO InterPro |
PMID:14592944 PMID:15514116 |
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107 RGD:1304454 |
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
|
|
G |
HEPHL1 |
hephaestin like 1 |
involved_in |
IMP |
(PMID:31125343) |
UniProt |
PMID:31125343 |
|
NCBI chr11:94,021,354...94,114,208
Ensembl chr11:94,021,354...94,114,208
|
|
G |
HFE |
homeostatic iron regulator |
involved_in |
IDA |
(PMID:10085150), (PMID:18353247) |
UniProt |
PMID:10085150 PMID:18353247 |
|
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
|
|
G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:16787915) |
Ensembl MGI |
PMID:16787915 |
GO_REF:0000107 |
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
|
|
G |
HJV |
hemojuvelin BMP co-receptor |
involved_in |
ISS IEA |
|
BHF-UCL Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
|
|
G |
HMOX1 |
heme oxygenase 1 |
involved_in |
IMP IDA |
(PMID:22989377) (PMID:17915953) |
CACAO BHF-UCL |
PMID:17915953 PMID:22989377 |
|
NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
|
|
G |
HPX |
hemopexin |
involved_in |
IEA TAS |
(PMID:3855550) |
InterPro PINC |
PMID:3855550 |
GO_REF:0000002 |
NCBI chr11:6,431,049...6,440,987
Ensembl chr11:6,431,049...6,442,617
|
|
G |
IREB2 |
iron responsive element binding protein 2 |
involved_in acts_upstream_of_or_within |
IEA IBA TAS ISO IMP |
(PMID:14726953) (PMID:11175792) (PMID:14726953), (PMID:15831703) (PMID:30915432) |
Ensembl GO_Central Reactome MGI UniProt |
PMID:11175792 PMID:14726953 PMID:15831703 PMID:30915432 |
GO_REF:0000033 GO_REF:0000107 Reactome:R-HSA-917937 |
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
|
|
G |
ISCU |
iron-sulfur cluster assembly enzyme |
involved_in |
IDA IBA |
(PMID:16517407), (PMID:23508953) |
UniProt GO_Central |
PMID:16517407 PMID:23508953 |
GO_REF:0000033 |
NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368
|
|
G |
LOC124907841 |
bolA-like protein 2 |
involved_in |
IDA IEA IBA |
(PMID:27519415) |
ComplexPortal InterPro GO_Central |
PMID:27519415 |
GO_REF:0000002 GO_REF:0000033 |
|
|
G |
MECR |
mitochondrial trans-2-enoyl-CoA reductase |
acts_upstream_of |
IMP |
(PMID:37653044) |
UniProt |
PMID:37653044 |
|
NCBI chr 1:29,167,696...29,230,934
Ensembl chr 1:29,192,657...29,230,942
|
|
G |
MELTF |
melanotransferrin |
NOT|acts_upstream_of_or_within |
ISO |
(PMID:16291590) |
MGI |
PMID:16291590 |
|
NCBI chr 3:197,001,740...197,029,817
Ensembl chr 3:196,980,590...197,029,835
|
|
G |
MON1A |
MON1 homolog A, secretory trafficking associated |
acts_upstream_of_or_within |
ISO |
(PMID:17632513) |
MGI |
PMID:17632513 |
|
NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173
|
|
G |
MT-RNR2 |
mitochondrially encoded 16S rRNA |
involved_in |
NAS |
(PMID:15567815) |
UniProt |
PMID:15567815 |
|
NCBI chr MT:1,671...3,229
Ensembl chr MT:1,671...3,229
|
|
G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
involved_in |
IDA |
(PMID:9924025) |
UniProt |
PMID:9924025 |
|
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
|
|
G |
NCOA4 |
nuclear receptor coactivator 4 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:25327288) |
InterPro MGI Ensembl |
PMID:25327288 |
GO_REF:0000002 GO_REF:0000107 |
NCBI chr10:46,005,088...46,030,623
Ensembl chr10:46,005,088...46,030,623
|
|
G |
NDFIP1 |
Nedd4 family interacting protein 1 |
involved_in |
IMP |
(PMID:18776082) |
UniProt |
PMID:18776082 |
|
NCBI chr 5:142,108,779...142,154,440
Ensembl chr 5:142,108,779...142,154,440
|
|
G |
NEO1 |
neogenin 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:20065295) |
Ensembl MGI |
PMID:20065295 |
GO_REF:0000107 |
NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205
|
|
G |
NUBP1 |
NUBP iron-sulfur cluster assembly factor 1, cytosolic |
involved_in |
IMP |
(PMID:18573874) |
UniProt |
PMID:18573874 |
|
NCBI chr16:10,743,842...10,769,351
Ensembl chr16:10,743,786...10,769,351
|
|
G |
PICALM |
phosphatidylinositol binding clathrin assembly protein |
involved_in |
IMP |
(PMID:22952941) |
ARUK-UCL |
PMID:22952941 |
|
NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
|
|
G |
SCARA5 |
scavenger receptor class A member 5 |
involved_in |
ISS IEA |
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000104 GO_REF:0000107 |
NCBI chr 8:27,869,883...27,992,673
Ensembl chr 8:27,869,883...27,992,673
|
|
G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
acts_upstream_of_or_within |
ISO |
(PMID:36301669) |
MGI |
PMID:36301669 |
|
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
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SLC11A1 |
solute carrier family 11 member 1 |
involved_in acts_upstream_of_or_within |
IMP ISO IEA |
(PMID:16510578) (PMID:11903051) (PMID:18456389), (PMID:19321419) |
BHF-UCL MGI Ensembl |
PMID:11903051 PMID:16510578 PMID:18456389 PMID:19321419 |
GO_REF:0000107 |
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SLC11A2 |
solute carrier family 11 member 2 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-917937 |
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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SLC22A17 |
solute carrier family 22 member 17 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-917937 |
NCBI chr14:23,346,311...23,352,887
Ensembl chr14:23,346,314...23,352,912
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SLC40A1 |
solute carrier family 40 member 1 |
involved_in |
IMP |
(PMID:12091367) |
BHF-UCL |
PMID:12091367 |
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NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
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SLC46A1 |
solute carrier family 46 member 1 |
involved_in |
TAS |
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Reactome |
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Reactome:R-HSA-917937 |
NCBI chr17:28,394,642...28,406,592
Ensembl chr17:28,394,642...28,407,197
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SMAD1 |
SMAD family member 1 |
involved_in |
IDA |
(PMID:31800957) |
UniProt |
PMID:31800957 |
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NCBI chr 4:145,480,770...145,559,176
Ensembl chr 4:145,481,194...145,559,176
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SMAD4 |
SMAD family member 4 |
involved_in |
IEA ISS |
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Ensembl BHF-UCL |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMAD5 |
SMAD family member 5 |
involved_in |
IDA |
(PMID:31800957) |
UniProt |
PMID:31800957 |
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NCBI chr 5:136,132,845...136,182,733
Ensembl chr 5:136,132,845...136,188,747
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SMAD9 |
SMAD family member 9 |
involved_in |
IDA |
(PMID:31800957) |
UniProt |
PMID:31800957 |
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NCBI chr13:36,844,831...36,920,854
Ensembl chr13:36,844,831...36,920,887
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SOD1 |
superoxide dismutase 1 |
involved_in acts_upstream_of_or_within |
ISS ISO IEA |
(PMID:16377630) |
UniProt MGI Ensembl |
PMID:16377630 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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TF |
transferrin |
involved_in |
IEA IGI |
(PMID:18353247) |
InterPro BHF-UCL |
PMID:18353247 |
GO_REF:0000002 |
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TFR2 |
transferrin receptor 2 |
involved_in |
TAS IDA |
(PMID:15319276) (PMID:18353247) |
UniProt BHF-UCL |
PMID:15319276 PMID:18353247 |
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NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
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TFRC |
transferrin receptor |
involved_in acts_upstream_of_or_within |
IEA ISO IBA TAS NAS |
(PMID:10192390) (PMID:1871153) |
Ensembl MGI GO_Central PINC UniProt |
PMID:1871153 PMID:10192390 |
GO_REF:0000033 GO_REF:0000104 GO_REF:0000107 |
NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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TMEM199 |
transmembrane protein 199 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
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NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683
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TMPRSS6 |
transmembrane serine protease 6 |
involved_in |
ISS IEA |
|
BHF-UCL Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
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TTC7A |
tetratricopeptide repeat domain 7A |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15155459) |
Ensembl MGI |
PMID:15155459 |
GO_REF:0000107 |
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
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EDN3 |
endothelin 3 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:23122227) |
Ensembl MGI |
PMID:23122227 |
GO_REF:0000107 |
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
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G |
KEL |
Kell metallo-endopeptidase (Kell blood group) |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:23122227) |
Ensembl MGI |
PMID:23122227 |
GO_REF:0000107 |
NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363
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G |
SLC41A1 |
solute carrier family 41 member 1 |
involved_in |
IMP |
(PMID:22031603) |
ParkinsonsUK-UCL |
PMID:22031603 |
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NCBI chr 1:205,789,095...205,813,198
Ensembl chr 1:205,789,094...205,813,748
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TMEM94 |
transmembrane protein 94 |
involved_in |
ISS |
|
UniProt |
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GO_REF:0000024 |
NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452
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G |
TRPM7 |
transient receptor potential cation channel subfamily M member 7 |
involved_in |
ISO ISS IEA |
|
RGD UniProt Ensembl |
PMID:21487014 |
GO_REF:0000024 GO_REF:0000107 RGD:5684918 |
NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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XK |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:23122227) |
Ensembl MGI |
PMID:23122227 |
GO_REF:0000107 |
NCBI chr X:37,685,791...37,732,130
Ensembl chr X:37,685,791...37,732,130
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ATP2C1 |
ATPase secretory pathway Ca2+ transporting 1 |
involved_in |
IDA |
(PMID:12707275) |
UniProt |
PMID:12707275 |
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NCBI chr 3:130,850,595...131,016,712
Ensembl chr 3:130,850,595...131,016,712
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SLC30A10 |
solute carrier family 30 member 10 |
involved_in |
IMP IDA |
(PMID:22341972), (PMID:27226609), (PMID:27307044) (PMID:25319704) |
UniProt |
PMID:22341972 PMID:25319704 PMID:27226609 PMID:27307044 |
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NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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G |
SLC39A8 |
solute carrier family 39 member 8 |
involved_in |
IEA ISS |
|
Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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ATP13A2 |
ATPase cation transporting 13A2 |
involved_in |
TAS |
(PMID:25548531) |
ParkinsonsUK-UCL |
PMID:25548531 |
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NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
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G |
CLDN16 |
claudin 16 |
involved_in |
TAS |
(PMID:10390358) |
PINC |
PMID:10390358 |
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NCBI chr 3:190,290,361...190,412,138
Ensembl chr 3:190,322,541...190,412,138
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G |
CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
involved_in |
IDA |
(PMID:15840172) |
UniProt |
PMID:15840172 |
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NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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G |
COX11 |
cytochrome c oxidase copper chaperone COX11 |
involved_in |
IDA |
(PMID:15840172) |
UniProt |
PMID:15840172 |
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NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703
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G |
MINPP1 |
multiple inositol-polyphosphate phosphatase 1 |
involved_in acts_upstream_of |
IEA IMP |
(PMID:33257696) |
Ensembl UniProt |
PMID:33257696 |
GO_REF:0000107 |
NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461
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G |
MT1X |
metallothionein 1X |
acts_upstream_of_or_within |
ISO |
(PMID:12130647), (PMID:15033980) |
MGI |
PMID:12130647 PMID:15033980 |
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NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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G |
MT3 |
metallothionein 3 |
involved_in acts_upstream_of_or_within |
NAS ISO TAS |
(PMID:12383939) (PMID:12130647) (PMID:21818286) |
UniProt MGI |
PMID:12130647 PMID:12383939 PMID:21818286 |
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NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
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G |
MT4 |
metallothionein 4 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15033980) |
Ensembl MGI |
PMID:15033980 |
GO_REF:0000107 |
NCBI chr16:56,565,073...56,568,957
Ensembl chr16:56,565,073...56,568,957
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G |
SLC39A10 |
solute carrier family 39 member 10 |
involved_in |
IBA |
|
GO_Central |
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GO_REF:0000033 |
NCBI chr 2:195,613,029...195,737,700
Ensembl chr 2:195,575,977...195,737,702
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G |
SLC39A12 |
solute carrier family 39 member 12 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
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G |
SLC39A14 |
solute carrier family 39 member 14 |
involved_in |
IBA |
|
GO_Central |
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GO_REF:0000033 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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G |
SLC39A4 |
solute carrier family 39 member 4 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
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G |
SLC39A5 |
solute carrier family 39 member 5 |
involved_in |
IBA |
|
GO_Central |
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GO_REF:0000033 |
NCBI chr12:56,230,051...56,237,846
Ensembl chr12:56,230,049...56,237,846
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G |
SLC39A6 |
solute carrier family 39 member 6 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr18:36,108,531...36,129,340
Ensembl chr18:36,108,531...36,129,385
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G |
SLC39A8 |
solute carrier family 39 member 8 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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SLC4A11 |
solute carrier family 4 member 11 |
involved_in |
IDA |
(PMID:15525507) |
HGNC-UCL |
PMID:15525507 |
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NCBI chr20:3,227,417...3,239,559
Ensembl chr20:3,227,417...3,239,559
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G |
TESMIN |
testis expressed metallothionein like protein |
involved_in |
NAS |
(PMID:10191092) |
UniProt |
PMID:10191092 |
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NCBI chr11:68,704,796...68,751,520
Ensembl chr11:68,707,440...68,751,520
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P2RY2 |
purinergic receptor P2Y2 |
involved_in |
TAS |
(PMID:8159738) |
PINC |
PMID:8159738 |
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NCBI chr11:73,218,281...73,242,427
Ensembl chr11:73,218,281...73,242,427
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G |
RHAG |
Rh associated glycoprotein |
involved_in |
IDA |
(PMID:15856280) |
UniProt |
PMID:15856280 |
|
NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839
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G |
RHCG |
Rh family C glycoprotein |
involved_in |
IDA |
(PMID:14761968) |
UniProt |
PMID:14761968 |
|
NCBI chr15:89,471,407...89,496,583
Ensembl chr15:89,471,398...89,496,589
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G |
SLC4A1 |
solute carrier family 4 member 1 (Diego blood group) |
involved_in |
TAS |
(PMID:8841202) |
PINC |
PMID:8841202 |
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NCBI chr17:44,248,390...44,268,135
Ensembl chr17:44,248,390...44,268,141
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CFTR |
CF transmembrane conductance regulator |
involved_in |
ISS IEA |
|
UniProt Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
SLC26A3 |
solute carrier family 26 member 3 |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 7:107,765,469...107,803,223
Ensembl chr 7:107,765,467...107,803,225
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G |
SLC26A6 |
solute carrier family 26 member 6 |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493
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ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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G |
ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A4 |
ATPase H+ transporting V0 subunit a4 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr 7:138,706,294...138,798,196
Ensembl chr 7:138,706,294...138,799,560
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ATP6V0B |
ATPase H+ transporting V0 subunit b |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
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ATP6V0C |
ATPase H+ transporting V0 subunit c |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1D |
ATPase H+ transporting V1 subunit D |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
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G |
ATP6V1F |
ATPase H+ transporting V1 subunit F |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
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G |
ATP6V1H |
ATPase H+ transporting V1 subunit H |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
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G |
GPR89A |
G protein-coupled receptor 89A |
involved_in |
IDA IBA |
(PMID:18794847) |
UniProt GO_Central |
PMID:18794847 |
GO_REF:0000033 |
NCBI chr 1:145,607,988...145,670,650
Ensembl chr 1:145,607,988...145,670,650 Ensembl chr 1:145,607,988...145,670,650
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G |
GPR89B |
G protein-coupled receptor 89B |
involved_in |
IDA IBA |
(PMID:18794847) |
UniProt GO_Central |
PMID:18794847 |
GO_REF:0000033 |
NCBI chr 1:147,928,420...148,025,934
Ensembl chr 1:147,928,393...147,993,592 Ensembl chr 1:147,928,393...147,993,592
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G |
RNASEK |
ribonuclease K |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
|
NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
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G |
SLC12A5 |
solute carrier family 12 member 5 |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:16420452 |
GO_REF:0000107 RGD:2303953 |
NCBI chr20:46,021,686...46,060,150
Ensembl chr20:46,021,690...46,060,150
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|
G |
TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:23908015) |
Ensembl MGI |
PMID:23908015 |
GO_REF:0000107 |
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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G |
TPCN2 |
two pore segment channel 2 |
involved_in |
IDA IEA |
(PMID:27140606) |
UniProt Ensembl |
PMID:27140606 |
GO_REF:0000107 |
NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316
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G |
TTPA |
alpha tocopherol transfer protein |
|
ISO |
|
RGD |
PMID:22147702 |
RGD:7247589 |
NCBI chr 8:63,058,409...63,086,053
Ensembl chr 8:63,048,553...63,086,053
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|
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G |
ATP12A |
ATPase H+/K+ transporting non-gastric alpha2 subunit |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
involved_in |
IDA IBA ISO |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central ComplexPortal |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 GO_REF:0000114 |
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
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G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
involved_in |
IDA IBA IMP |
(PMID:10636900) (PMID:23954377) |
BHF-UCL GO_Central |
PMID:10636900 PMID:23954377 |
GO_REF:0000033 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
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G |
ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
involved_in |
IDA IBA |
(PMID:10636900) |
BHF-UCL GO_Central |
PMID:10636900 |
GO_REF:0000033 |
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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G |
ATP1A4 |
ATPase Na+/K+ transporting subunit alpha 4 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
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G |
ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
involved_in |
IDA IBA ISO |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central ComplexPortal |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 GO_REF:0000114 |
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
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G |
ATP1B2 |
ATPase Na+/K+ transporting subunit beta 2 |
involved_in |
IDA IBA |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 |
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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G |
ATP1B3 |
ATPase Na+/K+ transporting subunit beta 3 |
involved_in |
IDA IBA |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 |
NCBI chr 3:141,876,643...141,926,549
Ensembl chr 3:141,876,124...141,926,549
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G |
ATP4A |
ATPase H+/K+ transporting subunit alpha |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658
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G |
ATP4B |
ATPase H+/K+ transporting subunit beta |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
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G |
CAMK2D |
calcium/calmodulin dependent protein kinase II delta |
|
ISO |
|
RGD |
PMID:11925434 |
RGD:724615 |
NCBI chr 4:113,451,032...113,761,738
Ensembl chr 4:113,418,054...113,761,927
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G |
FXYD2 |
FXYD domain containing ion transport regulator 2 |
involved_in |
ISO |
|
ComplexPortal |
|
GO_REF:0000114 |
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
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G |
KCNJ2 |
potassium inwardly rectifying channel subfamily J member 2 |
involved_in |
TAS |
(PMID:20086079) |
BHF-UCL |
PMID:20086079 |
|
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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G |
KCNMA1 |
potassium calcium-activated channel subfamily M alpha 1 |
involved_in |
IDA |
(PMID:11245614) |
UniProt |
PMID:11245614 |
|
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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G |
KCTD7 |
potassium channel tetramerization domain containing 7 |
involved_in |
IEA |
|
Ensembl |
|
GO_REF:0000107 |
NCBI chr 7:66,628,881...66,643,229
Ensembl chr 7:66,628,881...66,649,067
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G |
PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
involved_in |
IDA |
(PMID:22797923) |
UniProt |
PMID:22797923 |
|
NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
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G |
SLC12A2 |
solute carrier family 12 member 2 |
acts_upstream_of_or_within |
ISS |
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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G |
YWHAE |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
involved_in |
IDA |
(PMID:22797923) |
UniProt |
PMID:22797923 |
|
NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222
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AGT |
angiotensinogen |
|
ISO |
|
RGD |
PMID:16380540 |
RGD:1582118 |
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
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G |
AGTR2 |
angiotensin II receptor type 2 |
|
ISO |
|
RGD |
PMID:16380540 |
RGD:1582118 |
NCBI chr X:116,170,744...116,174,974
Ensembl chr X:116,170,744...116,174,974
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G |
ATP12A |
ATPase H+/K+ transporting non-gastric alpha2 subunit |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr13:24,680,408...24,712,472
Ensembl chr13:24,680,408...24,712,472
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G |
ATP1A1 |
ATPase Na+/K+ transporting subunit alpha 1 |
involved_in |
IDA IBA ISO |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central ComplexPortal |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 GO_REF:0000114 |
NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261
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G |
ATP1A2 |
ATPase Na+/K+ transporting subunit alpha 2 |
involved_in |
IDA IBA |
(PMID:10636900) |
BHF-UCL GO_Central |
PMID:10636900 |
GO_REF:0000033 |
NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
|
|
G |
ATP1A3 |
ATPase Na+/K+ transporting subunit alpha 3 |
involved_in |
IDA IBA |
(PMID:10636900) |
BHF-UCL GO_Central |
PMID:10636900 |
GO_REF:0000033 |
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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G |
ATP1A4 |
ATPase Na+/K+ transporting subunit alpha 4 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:160,151,603...160,186,980
Ensembl chr 1:160,151,586...160,186,980
|
|
G |
ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
involved_in |
IDA IBA ISO |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central ComplexPortal |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 GO_REF:0000114 |
NCBI chr 1:169,106,690...169,132,719
Ensembl chr 1:169,105,697...169,310,992
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G |
ATP1B2 |
ATPase Na+/K+ transporting subunit beta 2 |
involved_in |
IDA IBA |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 |
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
|
|
G |
ATP1B3 |
ATPase Na+/K+ transporting subunit beta 3 |
involved_in |
IDA IBA |
(PMID:10636900), (PMID:19542013) |
BHF-UCL GO_Central |
PMID:10636900 PMID:19542013 |
GO_REF:0000033 |
NCBI chr 3:141,876,643...141,926,549
Ensembl chr 3:141,876,124...141,926,549
|
|
G |
ATP4A |
ATPase H+/K+ transporting subunit alpha |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr19:35,550,031...35,563,658
Ensembl chr19:35,550,031...35,563,658
|
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G |
ATP4B |
ATPase H+/K+ transporting subunit beta |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr13:113,648,804...113,658,198
Ensembl chr13:113,648,804...113,658,198
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G |
C7 |
complement C7 |
|
ISO |
|
RGD |
PMID:10792960 |
RGD:1599525 |
NCBI chr 5:40,909,497...40,984,643
Ensembl chr 5:40,909,492...41,020,216
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G |
FXYD2 |
FXYD domain containing ion transport regulator 2 |
involved_in |
ISO |
|
ComplexPortal |
|
GO_REF:0000114 |
NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
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|
G |
IL1A |
interleukin 1 alpha |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:19766171) |
Ensembl MGI |
PMID:19766171 |
GO_REF:0000107 |
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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G |
NR3C2 |
nuclear receptor subfamily 3 group C member 2 |
acts_upstream_of_or_within |
ISO |
(PMID:9689096) |
MGI |
PMID:9689096 |
|
NCBI chr 4:148,078,764...148,445,508
Ensembl chr 4:148,078,762...148,444,698
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G |
SCNN1A |
sodium channel epithelial 1 subunit alpha |
involved_in |
IDA IEA |
(PMID:16423824) |
ComplexPortal Ensembl |
PMID:16423824 |
GO_REF:0000107 |
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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G |
SCNN1B |
sodium channel epithelial 1 subunit beta |
involved_in |
IDA IEA |
(PMID:16423824) |
ComplexPortal Ensembl |
PMID:16423824 |
GO_REF:0000107 |
NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
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G |
SCNN1D |
sodium channel epithelial 1 subunit delta |
involved_in |
IDA |
(PMID:16423824) |
ComplexPortal |
PMID:16423824 |
|
NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
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G |
SCNN1G |
sodium channel epithelial 1 subunit gamma |
involved_in |
IDA IEA |
(PMID:16423824) |
ComplexPortal Ensembl |
PMID:16423824 |
GO_REF:0000107 |
NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
|
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G |
SGK1 |
serum/glucocorticoid regulated kinase 1 |
|
ISO |
|
RGD |
PMID:11250940 |
RGD:628514 |
NCBI chr 6:134,169,256...134,318,112
Ensembl chr 6:134,169,248...134,318,112
|
|
G |
SLC12A2 |
solute carrier family 12 member 2 |
acts_upstream_of_or_within |
ISS |
|
ARUK-UCL |
|
GO_REF:0000024 |
NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
|
|
G |
SLC1A3 |
solute carrier family 1 member 3 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:19766171) |
Ensembl MGI |
PMID:19766171 |
GO_REF:0000107 |
NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334
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G |
SLC8A1 |
solute carrier family 8 member A1 |
involved_in |
IDA |
(PMID:1374913) |
BHF-UCL |
PMID:1374913 |
|
NCBI chr 2:40,097,270...40,512,435
Ensembl chr 2:40,097,270...40,611,053
|
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G |
SLC9A1 |
solute carrier family 9 member A1 |
involved_in |
IDA |
(PMID:24840010) |
BHF-UCL |
PMID:24840010 |
|
NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
|
|
G |
SPP1 |
secreted phosphoprotein 1 |
acts_upstream_of_or_within |
ISO |
(PMID:17898038) |
MGI |
PMID:17898038 |
|
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
|
|
G |
TMPRSS3 |
transmembrane serine protease 3 |
acts_upstream_of_or_within |
IDA |
(PMID:12393794) |
MGI |
PMID:12393794 |
|
NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
|
|
G |
UMOD |
uromodulin |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:17898038) |
Ensembl MGI |
PMID:17898038 |
GO_REF:0000107 |
NCBI chr16:20,333,051...20,356,301
Ensembl chr16:20,333,051...20,356,301
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|
|
G |
AP3B1 |
adaptor related protein complex 3 subunit beta 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:30786955) |
Ensembl MGI |
PMID:30786955 |
GO_REF:0000107 |
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:77,991,640...78,294,762
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G |
ATP13A2 |
ATPase cation transporting 13A2 |
involved_in |
IEA IMP |
(PMID:24334770), (PMID:24603074) |
Ensembl ParkinsonsUK-UCL |
PMID:24334770 PMID:24603074 |
GO_REF:0000107 |
NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
|
|
G |
ATP7B |
ATPase copper transporting beta |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:8040371), (PMID:8257436), (PMID:9392450), (PMID:9484715) |
Ensembl MGI |
PMID:8040371 PMID:8257436 PMID:9392450 PMID:9484715 |
GO_REF:0000107 |
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
|
|
G |
HPS1 |
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 |
acts_upstream_of_or_within |
ISO |
(PMID:30786955) |
MGI |
PMID:30786955 |
|
NCBI chr10:98,413,948...98,446,935
Ensembl chr10:98,410,939...98,446,963
|
|
G |
LCK |
LCK proto-oncogene, Src family tyrosine kinase |
involved_in |
IEP |
(PMID:11739864) |
UniProt |
PMID:11739864 |
|
NCBI chr 1:32,251,265...32,286,165
Ensembl chr 1:32,251,244...32,286,165
|
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G |
MT1A |
metallothionein 1A |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087
|
|
G |
MT1B |
metallothionein 1B |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,651,886...56,653,204
Ensembl chr16:56,651,886...56,653,204
|
|
G |
MT1DP |
metallothionein 1D, pseudogene |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,643,687...56,644,941
Ensembl chr16:56,643,725...56,644,765
|
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G |
MT1E |
metallothionein 1E |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,625,781...56,627,112
Ensembl chr16:56,625,475...56,627,112
|
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G |
MT1F |
metallothionein 1F |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,657,959...56,659,303
Ensembl chr16:56,657,731...56,660,698
|
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G |
MT1G |
metallothionein 1G |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,666,730...56,668,065
Ensembl chr16:56,666,730...56,668,065
|
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G |
MT1H |
metallothionein 1H |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,669,814...56,671,129
Ensembl chr16:56,669,814...56,671,129
|
|
G |
MT1HL1 |
metallothionein 1H like 1 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr 1:237,004,103...237,004,441
Ensembl chr 1:237,004,103...237,004,441
|
|
G |
MT1L |
metallothionein 1L (pseudogene) |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,617,461...56,618,818
Ensembl chr16:56,617,563...56,618,680
|
|
G |
MT1M |
metallothionein 1M |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,632,659...56,633,981
Ensembl chr16:56,632,659...56,633,981
|
|
G |
MT1X |
metallothionein 1X |
involved_in acts_upstream_of_or_within |
IBA ISO |
(PMID:11792622) |
GO_Central MGI |
PMID:11792622 |
GO_REF:0000033 |
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
|
|
G |
MT2A |
metallothionein 2A |
involved_in acts_upstream_of_or_within |
IBA ISO |
(PMID:11792622) |
GO_Central MGI |
PMID:11792622 |
GO_REF:0000033 |
NCBI chr16:56,608,584...56,609,497
Ensembl chr16:56,608,584...56,609,497
|
|
G |
MT3 |
metallothionein 3 |
involved_in |
ISS IBA |
|
UniProt GO_Central |
|
GO_REF:0000024 GO_REF:0000033 |
NCBI chr16:56,589,528...56,591,085
Ensembl chr16:56,589,074...56,591,088
|
|
G |
MT4 |
metallothionein 4 |
involved_in |
IBA |
|
GO_Central |
|
GO_REF:0000033 |
NCBI chr16:56,565,073...56,568,957
Ensembl chr16:56,565,073...56,568,957
|
|
G |
SCO1 |
synthesis of cytochrome C oxidase 1 |
acts_upstream_of_or_within |
ISO |
(PMID:36301669) |
MGI |
PMID:36301669 |
|
NCBI chr17:10,672,474...10,697,533
Ensembl chr17:10,672,474...10,698,375
|
|
G |
SLC1A1 |
solute carrier family 1 member 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:22575539) |
Ensembl MGI |
PMID:22575539 |
GO_REF:0000107 |
NCBI chr 9:4,490,468...4,587,469
Ensembl chr 9:4,490,468...4,587,469
|
|
G |
SLC30A1 |
solute carrier family 30 member 1 |
involved_in acts_upstream_of_or_within |
IEA IBA IDA ISO ISS |
(PMID:18158319) (PMID:15452870) |
Ensembl GO_Central UniProt MGI BHF-UCL |
PMID:15452870 PMID:18158319 |
GO_REF:0000024 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 1:211,571,568...211,579,161
Ensembl chr 1:211,571,568...211,579,161
|
|
G |
SLC30A10 |
solute carrier family 30 member 10 |
NOT|involved_in |
IDA IBA IMP |
(PMID:25319704) (PMID:27226609) (PMID:22427991), (PMID:26728129) |
UniProt GO_Central |
PMID:22427991 PMID:25319704 PMID:26728129 PMID:27226609 |
GO_REF:0000033 |
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
|
|
G |
SLC30A2 |
solute carrier family 30 member 2 |
involved_in |
IC |
(PMID:19496757) |
UniProt |
PMID:19496757 |
|
NCBI chr 1:26,037,252...26,046,118
Ensembl chr 1:26,037,252...26,046,118
|
|
G |
SLC30A5 |
solute carrier family 30 member 5 |
involved_in |
IEA IBA IDA |
(PMID:11937503) |
InterPro GO_Central UniProt |
PMID:11937503 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr 5:69,094,014...69,131,069
Ensembl chr 5:69,093,991...69,131,069
|
|
G |
SLC30A7 |
solute carrier family 30 member 7 |
involved_in |
IEA IBA |
|
InterPro GO_Central Ensembl |
|
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 1:100,896,090...100,996,078
Ensembl chr 1:100,896,076...100,996,260
|
|
G |
SLC30A8 |
solute carrier family 30 member 8 |
involved_in |
ISS IEA |
|
BHF-UCL Ensembl |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 8:116,950,217...117,176,714
Ensembl chr 8:116,950,273...117,176,714
|
|
G |
SLC30A9 |
solute carrier family 30 member 9 |
involved_in |
IMP IBA |
(PMID:28334855) |
UniProt GO_Central |
PMID:28334855 |
GO_REF:0000033 |
NCBI chr 4:41,990,530...42,090,461
Ensembl chr 4:41,990,502...42,090,461
|
|
G |
SLC39A10 |
solute carrier family 39 member 10 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:25074913) |
Ensembl MGI |
PMID:25074913 |
GO_REF:0000107 |
NCBI chr 2:195,613,029...195,737,700
Ensembl chr 2:195,575,977...195,737,702
|
|
G |
SLC39A13 |
solute carrier family 39 member 13 |
involved_in |
ISS IBA IDA IEA |
(PMID:18985159) (PMID:21917916) |
BHF-UCL GO_Central Ensembl |
PMID:18985159 PMID:21917916 |
GO_REF:0000033 GO_REF:0000107 |
NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
|
|
G |
SLC39A14 |
solute carrier family 39 member 14 |
involved_in |
IDA IEA |
(PMID:15642354), (PMID:21917916) |
BHF-UCL Ensembl |
PMID:15642354 PMID:21917916 |
GO_REF:0000107 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
|
|
G |
SLC39A4 |
solute carrier family 39 member 4 |
involved_in |
IEA ISS |
|
Ensembl UniProt |
|
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 8:144,412,414...144,416,844
Ensembl chr 8:144,409,742...144,416,844
|
|
G |
SLC39A6 |
solute carrier family 39 member 6 |
involved_in |
IDA |
(PMID:15642354) |
BHF-UCL |
PMID:15642354 |
|
NCBI chr18:36,108,531...36,129,340
Ensembl chr18:36,108,531...36,129,385
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SLC39A7 |
solute carrier family 39 member 7 |
involved_in |
IMP IBA |
(PMID:29980658) |
UniProt GO_Central |
PMID:29980658 |
GO_REF:0000033 |
NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439
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SLC39A8 |
solute carrier family 39 member 8 |
involved_in |
IDA IEA |
(PMID:19401385) |
UniProt Ensembl |
PMID:19401385 |
GO_REF:0000107 |
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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SLC39A9 |
solute carrier family 39 member 9 |
involved_in |
IDA |
(PMID:19420709), (PMID:23505453) |
UniProt |
PMID:19420709 PMID:23505453 |
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NCBI chr14:69,398,384...69,462,390
Ensembl chr14:69,398,015...69,462,390
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TMC6 |
transmembrane channel like 6 |
involved_in |
IDA |
(PMID:18158319) |
UniProt |
PMID:18158319 |
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NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
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TMC8 |
transmembrane channel like 8 |
involved_in |
IDA IMP |
(PMID:18158319) |
GO_Central UniProt |
PMID:18158319 |
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NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
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ZNG1A |
Zn regulated GTPase metalloprotein activator 1A |
involved_in |
ISO |
(PMID:35584702) |
UniProt |
PMID:35584702 |
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NCBI chr 9:120,837...179,056
Ensembl chr 9:120,837...179,147
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SLC11A2 |
solute carrier family 11 member 2 |
involved_in acts_upstream_of_or_within |
IEA ISO NAS IDA |
(PMID:11739192) (PMID:9990067) (PMID:17109629) |
Ensembl MGI BHF-UCL UniProt |
PMID:9990067 PMID:11739192 PMID:17109629 |
GO_REF:0000107 |
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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SLC39A14 |
solute carrier family 39 member 14 |
involved_in |
IMP IEA |
(PMID:20682781) |
UniProt Ensembl |
PMID:20682781 |
GO_REF:0000107 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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STEAP3 |
STEAP3 metalloreductase |
acts_upstream_of_or_within |
ISO |
(PMID:16609065) |
MGI |
PMID:16609065 |
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NCBI chr 2:119,223,834...119,265,652
Ensembl chr 2:119,223,831...119,265,652
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STEAP4 |
STEAP4 metalloreductase |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:16609065) |
Ensembl MGI |
PMID:16609065 |
GO_REF:0000107 |
NCBI chr 7:88,270,892...88,306,894
Ensembl chr 7:88,270,892...88,306,894
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SLC39A8 |
solute carrier family 39 member 8 |
involved_in |
IEA IDA |
(PMID:22898811) |
Ensembl UniProt |
PMID:22898811 |
GO_REF:0000107 |
NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258
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STEAP2 |
STEAP2 metalloreductase |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:16609065) |
Ensembl MGI |
PMID:16609065 |
GO_REF:0000107 |
NCBI chr 7:90,211,740...90,243,408
Ensembl chr 7:90,167,590...90,238,137
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ATP6AP1 |
ATPase H+ transporting accessory protein 1 |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr X:154,428,677...154,436,516
Ensembl chr X:154,428,633...154,436,516
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ATP6AP2 |
ATPase H+ transporting accessory protein 2 |
involved_in |
IMP NAS |
(PMID:32276428) (PMID:32001091), (PMID:33065002) |
UniProt ComplexPortal |
PMID:32001091 PMID:32276428 PMID:33065002 |
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NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATP6V0A1 |
ATPase H+ transporting V0 subunit a1 |
involved_in |
NAS |
(PMID:33065002) |
ComplexPortal |
PMID:33065002 |
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NCBI chr17:42,458,878...42,522,579
Ensembl chr17:42,458,844...42,522,582
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ATP6V0B |
ATPase H+ transporting V0 subunit b |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr 1:43,974,960...43,978,295
Ensembl chr 1:43,974,487...43,978,295
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ATP6V0C |
ATPase H+ transporting V0 subunit c |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr16:2,513,726...2,520,218
Ensembl chr16:2,513,952...2,520,218
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ATP6V1A |
ATPase H+ transporting V1 subunit A |
involved_in |
NAS IC |
(PMID:32001091), (PMID:33065002) |
ComplexPortal UniProt |
PMID:32001091 PMID:33065002 |
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NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1D |
ATPase H+ transporting V1 subunit D |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr14:67,337,872...67,359,804
Ensembl chr14:67,294,371...67,360,265
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ATP6V1F |
ATPase H+ transporting V1 subunit F |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847
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ATP6V1H |
ATPase H+ transporting V1 subunit H |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr 8:53,715,543...53,843,245
Ensembl chr 8:53,715,543...53,843,558
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CCDC115 |
coiled-coil domain containing 115 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
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NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699
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CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
involved_in |
IMP IBA |
(PMID:11722572) |
UniProt GO_Central |
PMID:11722572 |
GO_REF:0000033 |
NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
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CLN5 |
CLN5 intracellular trafficking protein |
involved_in |
IMP |
(PMID:11722572) |
UniProt |
PMID:11722572 |
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NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
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CLN6 |
CLN6 transmembrane ER protein |
involved_in |
IMP |
(PMID:11722572) |
UniProt |
PMID:11722572 |
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NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211
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CREG1 |
cellular repressor of E1A stimulated genes 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:33966596) |
Ensembl MGI |
PMID:33966596 |
GO_REF:0000107 |
NCBI chr 1:167,541,013...167,553,762
Ensembl chr 1:167,529,117...167,553,805
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GRN |
granulin precursor |
involved_in |
IMP |
(PMID:28073925) |
UniProt |
PMID:28073925 |
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NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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LAMP1 |
lysosomal associated membrane protein 1 |
involved_in |
IDA |
(PMID:37390818) |
UniProt |
PMID:37390818 |
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NCBI chr13:113,297,239...113,323,672
Ensembl chr13:113,297,239...113,323,672
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LAMP2 |
lysosomal associated membrane protein 2 |
involved_in |
IDA |
(PMID:37390818) |
UniProt |
PMID:37390818 |
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NCBI chr X:120,426,148...120,469,349
Ensembl chr X:120,426,148...120,469,365
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PPT1 |
palmitoyl-protein thioesterase 1 |
involved_in |
IMP |
(PMID:11722572) |
UniProt |
PMID:11722572 |
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NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
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RNASEK |
ribonuclease K |
involved_in |
NAS |
(PMID:32001091), (PMID:33065002) |
ComplexPortal |
PMID:32001091 PMID:33065002 |
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NCBI chr17:7,012,624...7,014,532
Ensembl chr17:7,012,417...7,014,532
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SNAPIN |
SNAP associated protein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:20920792) |
Ensembl MGI |
PMID:20920792 |
GO_REF:0000107 |
NCBI chr 1:153,658,654...153,661,852
Ensembl chr 1:153,658,703...153,661,852
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TCIRG1 |
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 |
involved_in |
NAS |
(PMID:32001091) |
ComplexPortal |
PMID:32001091 |
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NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TMEM106B |
transmembrane protein 106B |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:28728022) |
Ensembl MGI |
PMID:28728022 |
GO_REF:0000107 |
NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
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TMEM199 |
transmembrane protein 199 |
involved_in |
IMP |
(PMID:28296633) |
UniProt |
PMID:28296633 |
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NCBI chr17:28,357,647...28,363,683
Ensembl chr17:28,357,642...28,363,683
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TMEM9 |
transmembrane protein 9 |
involved_in |
IDA |
(PMID:30374053) |
UniProt |
PMID:30374053 |
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NCBI chr 1:201,134,772...201,171,558
Ensembl chr 1:201,134,772...201,171,574
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CLN3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
involved_in |
IDA |
(PMID:10924275) |
UniProt |
PMID:10924275 |
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NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
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OCA2 |
OCA2 melanosomal transmembrane protein |
involved_in |
IDA |
(PMID:25513726), (PMID:32966160) |
UniProt |
PMID:25513726 PMID:32966160 |
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NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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SLC45A2 |
solute carrier family 45 member 2 |
involved_in |
ISS IEA IDA |
(PMID:32966160) |
UniProt Ensembl |
PMID:32966160 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
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TMEM175 |
transmembrane protein 175 |
involved_in |
IDA |
(PMID:35333573), (PMID:35750034), (PMID:37390818) |
UniProt |
PMID:35333573 PMID:35750034 PMID:37390818 |
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NCBI chr 4:932,460...958,656
Ensembl chr 4:932,387...958,656
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ANK3 |
ankyrin 3 |
involved_in |
ISS |
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UniProt |
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GO_REF:0000024 |
NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490
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CNNM1 |
cyclin and CBS domain divalent metal cation transport mediator 1 |
involved_in |
IEA IBA |
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InterPro GO_Central |
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GO_REF:0000002 GO_REF:0000033 |
NCBI chr10:99,329,356...99,394,330
Ensembl chr10:99,329,356...99,394,330
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CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
acts_upstream_of_or_within involved_in |
IMP IBA IEA |
(PMID:21397062) |
MGI GO_Central InterPro |
PMID:21397062 |
GO_REF:0000002 GO_REF:0000033 |
NCBI chr10:102,918,294...103,090,222
Ensembl chr10:102,918,294...103,090,222
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CNNM3 |
cyclin and CBS domain divalent metal cation transport mediator 3 |
involved_in |
IEA IBA |
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InterPro GO_Central |
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GO_REF:0000002 GO_REF:0000033 |
NCBI chr 2:96,816,268...96,837,466
Ensembl chr 2:96,816,245...96,835,382
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CNNM4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
involved_in acts_upstream_of_or_within |
IEA IBA ISO |
(PMID:24339795) |
InterPro GO_Central MGI Ensembl |
PMID:24339795 |
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107 |
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
involved_in |
ISO |
(PMID:28402956) |
MGI |
PMID:28402956 |
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NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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KCNA1 |
potassium voltage-gated channel subfamily A member 1 |
involved_in |
IMP |
(PMID:19307729) |
UniProt |
PMID:19307729 |
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NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256
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MTSS1 |
MTSS I-BAR domain containing 1 |
acts_upstream_of_or_within |
ISO |
(PMID:21406566) |
MGI |
PMID:21406566 |
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NCBI chr 8:124,550,784...124,728,473
Ensembl chr 8:124,550,784...124,728,473
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PTH |
parathyroid hormone |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
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TRMT10A |
tRNA methyltransferase 10A |
acts_upstream_of_or_within |
ISO |
(PMID:23870131) |
MGI |
PMID:23870131 |
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NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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TRPM7 |
transient receptor potential cation channel subfamily M member 7 |
involved_in |
IDA |
(PMID:12887921) |
UniProt |
PMID:12887921 |
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NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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SLC30A10 |
solute carrier family 30 member 10 |
involved_in |
IEA |
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Ensembl |
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GO_REF:0000107 |
NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
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SLC39A14 |
solute carrier family 39 member 14 |
involved_in |
IEA ISS |
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Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
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AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
involved_in |
IMP |
(PMID:27642048) |
UniProt |
PMID:27642048 |
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NCBI chr18:12,328,944...12,377,227
Ensembl chr18:12,328,944...12,377,227
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ANXA6 |
annexin A6 |
involved_in |
IEA IBA |
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Ensembl GO_Central |
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GO_REF:0000033 GO_REF:0000107 |
NCBI chr 5:151,100,706...151,157,779
Ensembl chr 5:151,100,706...151,157,815
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C19orf12 |
chromosome 19 open reading frame 12 |
involved_in |
IMP |
(PMID:26136767) |
UniProt |
PMID:26136767 |
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NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789
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DISC1 |
DISC1 scaffold protein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:20880836) |
Ensembl MGI |
PMID:20880836 |
GO_REF:0000107 |
NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272
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IMMT |
inner membrane mitochondrial protein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:20880836) |
Ensembl MGI |
PMID:20880836 |
GO_REF:0000107 |
NCBI chr 2:86,143,936...86,195,462
Ensembl chr 2:86,143,932...86,195,472
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
involved_in |
IEA IDA |
(PMID:19797662) |
Ensembl UniProt |
PMID:19797662 |
GO_REF:0000107 |
NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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MAIP1 |
matrix AAA peptidase interacting protein 1 |
involved_in |
IMP |
(PMID:27642048) |
UniProt |
PMID:27642048 |
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NCBI chr 2:199,955,317...199,964,117
Ensembl chr 2:199,955,317...200,008,540
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MCU |
mitochondrial calcium uniporter |
involved_in |
ISO IEA IBA NAS IDA |
(PMID:24514027), (PMID:31533452), (PMID:31862210) (PMID:32494073) |
RGD UniProt GO_Central ComplexPortal Ensembl InterPro |
PMID:22425903 PMID:24514027 PMID:31533452 PMID:31862210 PMID:32494073 |
GO_REF:0000002 GO_REF:0000033 GO_REF:0000104 GO_REF:0000107 RGD:7175069 |
NCBI chr10:72,692,143...72,887,694
Ensembl chr10:72,692,143...72,887,694
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MCUB |
mitochondrial calcium uniporter dominant negative subunit beta |
involved_in |
IEA IBA NAS ISS |
(PMID:31533452) |
InterPro GO_Central ComplexPortal UniProt |
PMID:31533452 |
GO_REF:0000002 GO_REF:0000024 GO_REF:0000033 |
NCBI chr 4:109,560,246...109,688,719
Ensembl chr 4:109,560,209...109,688,719
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MFN2 |
mitofusin 2 |
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ISO |
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RGD |
PMID:25147362 |
RGD:13204807 |
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MICU1 |
mitochondrial calcium uptake 1 |
involved_in |
IDA IBA NAS IMP |
(PMID:32494073) (PMID:24514027), (PMID:31533452), (PMID:31862210) (PMID:20693986), (PMID:23101630), (PMID:26903221), (PMID:27099988) |
ComplexPortal GO_Central UniProt |
PMID:20693986 PMID:23101630 PMID:24514027 PMID:26903221 PMID:27099988 PMID:31533452 PMID:31862210 PMID:32494073 More...
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GO_REF:0000033 |
NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131
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MICU2 |
mitochondrial calcium uptake 2 |
involved_in |
IDA IBA NAS IMP |
(PMID:32494073) (PMID:31533452) (PMID:26903221) |
ComplexPortal GO_Central UniProt |
PMID:26903221 PMID:31533452 PMID:32494073 |
GO_REF:0000033 |
NCBI chr13:21,492,691...21,604,170
Ensembl chr13:21,492,691...21,604,181
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MICU3 |
mitochondrial calcium uptake family member 3 |
involved_in |
NAS IBA |
(PMID:31862210) |
ComplexPortal GO_Central |
PMID:31862210 |
GO_REF:0000033 |
NCBI chr 8:17,027,238...17,138,640
Ensembl chr 8:17,027,238...17,122,642
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PDZD8 |
PDZ domain containing 8 |
involved_in |
IEA IBA IDA |
(PMID:29097544) |
InterPro GO_Central Ensembl UniProt |
PMID:29097544 |
GO_REF:0000002 GO_REF:0000033 GO_REF:0000107 |
NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440
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SLC8A3 |
solute carrier family 8 member A3 |
involved_in |
ISS IEA |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr14:70,044,215...70,189,405
Ensembl chr14:70,044,215...70,189,480
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G |
SLC8B1 |
solute carrier family 8 member B1 |
involved_in |
IMP IEA IDA |
(PMID:20018762) (PMID:24898248) |
BHF-UCL Ensembl UniProt |
PMID:20018762 PMID:24898248 |
GO_REF:0000107 |
NCBI chr12:113,298,771...113,335,109
Ensembl chr12:113,298,759...113,359,493
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SMDT1 |
single-pass membrane protein with aspartate rich tail 1 |
involved_in |
IEA IBA NAS IMP IDA |
(PMID:24514027), (PMID:31533452), (PMID:31862210) (PMID:24231807), (PMID:27099988), (PMID:27642048) (PMID:32494073) |
InterPro GO_Central ComplexPortal UniProt |
PMID:24231807 PMID:24514027 PMID:27099988 PMID:27642048 PMID:31533452 PMID:31862210 PMID:32494073 More...
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GO_REF:0000002 GO_REF:0000033 |
NCBI chr22:42,079,700...42,084,284
Ensembl chr22:42,079,691...42,084,284
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CPS1 |
carbamoyl-phosphate synthase 1 |
involved_in |
ISO IEA |
Carbamoyl phosphate |
RGD Ensembl |
PMID:4062872 |
GO_REF:0000107 RGD:2300098 |
NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107
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OTC |
ornithine transcarbamylase |
involved_in |
ISO IEA |
Carbamoyl phosphate |
RGD Ensembl |
PMID:4062872 |
GO_REF:0000107 RGD:2300098 |
NCBI chr X:38,327,684...38,422,928
Ensembl chr X:38,327,598...38,422,908
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HAMP |
hepcidin antimicrobial peptide |
involved_in |
IEA |
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UniProt |
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GO_REF:0000117 |
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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TRPM7 |
transient receptor potential cation channel subfamily M member 7 |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr15:50,557,158...50,686,797
Ensembl chr15:50,552,473...50,686,797
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UNC80 |
unc-80 homolog, NALCN channel complex subunit |
involved_in |
IBA |
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GO_Central |
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GO_REF:0000033 |
NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,569...209,999,300
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WNK1 |
WNK lysine deficient protein kinase 1 |
involved_in |
IEA ISS |
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Ensembl UniProt |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr12:752,579...911,452
Ensembl chr12:752,579...911,452
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ANK1 |
ankyrin 1 |
acts_upstream_of_or_within |
ISO |
(PMID:23390527) |
MGI |
PMID:23390527 |
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NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741
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B2M |
beta-2-microglobulin |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:11113132) |
Ensembl MGI |
PMID:11113132 |
GO_REF:0000107 |
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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BMP6 |
bone morphogenetic protein 6 |
involved_in |
ISS IMP IEA |
(PMID:26582087), (PMID:28335084), (PMID:32464486) |
BHF-UCL UniProt Ensembl |
PMID:26582087 PMID:28335084 PMID:32464486 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
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BTBD9 |
BTB domain containing 9 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:22678064) |
Ensembl MGI |
PMID:22678064 |
GO_REF:0000107 |
NCBI chr 6:38,168,451...38,639,929
Ensembl chr 6:38,168,451...38,640,148
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CYBRD1 |
cytochrome b reductase 1 |
involved_in |
IDA |
(PMID:30272000) |
UniProt |
PMID:30272000 |
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NCBI chr 2:171,522,233...171,558,129
Ensembl chr 2:171,522,247...171,558,129
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EIF2AK1 |
eukaryotic translation initiation factor 2 alpha kinase 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:17932563) |
Ensembl MGI |
PMID:17932563 |
GO_REF:0000107 |
NCBI chr 7:6,022,247...6,059,175
Ensembl chr 7:6,022,247...6,059,175
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EPAS1 |
endothelial PAS domain protein 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:22128145) |
Ensembl MGI |
PMID:22128145 |
GO_REF:0000107 |
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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EPB42 |
erythrocyte membrane protein band 4.2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:10359562) |
Ensembl MGI |
PMID:10359562 |
GO_REF:0000107 |
NCBI chr15:43,197,227...43,225,737
Ensembl chr15:43,197,227...43,221,018
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FBXL5 |
F-box and leucine rich repeat protein 5 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:21907140) |
Ensembl MGI |
PMID:21907140 |
GO_REF:0000107 |
NCBI chr 4:15,604,381...15,681,569
Ensembl chr 4:15,604,381...15,681,679
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FECH |
ferrochelatase |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:17003376) |
Ensembl MGI |
PMID:17003376 |
GO_REF:0000107 |
NCBI chr18:57,544,377...57,586,702
Ensembl chr18:57,544,377...57,586,732
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HAMP |
hepcidin antimicrobial peptide |
involved_in acts_upstream_of_or_within |
IMP ISO IEA |
(PMID:12469120) (PMID:20113314) (PMID:24561287) (PMID:16574947), (PMID:20811044), (PMID:22128145), (PMID:23637785), (PMID:24357728) (PMID:20530874), (PMID:24646470) |
BHF-UCL MGI Ensembl |
PMID:12469120 PMID:16574947 PMID:20113314 PMID:20530874 PMID:20811044 PMID:22128145 PMID:23637785 PMID:24357728 PMID:24561287 PMID:24646470 More...
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GO_REF:0000107 |
NCBI chr19:35,282,528...35,285,143
Ensembl chr19:35,280,716...35,285,143
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HEPH |
hephaestin |
involved_in |
ISS IEA |
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UniProt Ensembl |
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GO_REF:0000024 GO_REF:0000107 |
NCBI chr X:66,162,671...66,268,863
Ensembl chr X:66,162,671...66,268,867
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HFE |
homeostatic iron regulator |
acts_upstream_of_or_within involved_in |
ISO IEA IMP |
(PMID:15131800) (PMID:10077651) (PMID:22960056) (PMID:21059897) (PMID:15914561) (PMID:21173098) |
RGD MGI Ensembl BHF-UCL |
PMID:10077651 PMID:15082582 PMID:15131800 PMID:15914561 PMID:21059897 PMID:21173098 PMID:22960056 More...
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GO_REF:0000107 RGD:1582699 |
NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343
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HJV |
hemojuvelin BMP co-receptor |
acts_upstream_of_or_within involved_in |
IDA IEA IGI |
(PMID:16075058) |
MGI Ensembl |
PMID:16075058 |
GO_REF:0000107 |
NCBI chr 1:146,017,470...146,021,735
Ensembl chr 1:146,017,468...146,036,746
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HMOX1 |
heme oxygenase 1 |
involved_in |
IMP |
(PMID:9884342) |
BHF-UCL |
PMID:9884342 |
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NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214
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HTT |
huntingtin |
acts_upstream_of_or_within |
ISO |
(PMID:11092755) |
MGI |
PMID:11092755 |
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NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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HYAL2 |
hyaluronidase 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:18772348) |
Ensembl MGI |
PMID:18772348 |
GO_REF:0000107 |
NCBI chr 3:50,317,808...50,322,745
Ensembl chr 3:50,317,790...50,322,782
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IREB2 |
iron responsive element binding protein 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:21907140) |
Ensembl MGI |
PMID:21907140 |
GO_REF:0000107 |
NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453
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MIR122 |
microRNA 122 |
acts_upstream_of_or_within |
ISO |
(PMID:21364282) |
MGI |
PMID:21364282 |
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NCBI chr18:58,451,074...58,451,158
Ensembl chr18:58,451,074...58,451,158
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MIR17 |
microRNA 17 |
acts_upstream_of_or_within |
ISO |
(PMID:21364282) |
MGI |
PMID:21364282 |
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NCBI chr13:91,350,605...91,350,688
Ensembl chr13:91,350,605...91,350,688
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NAGLU |
N-acetyl-alpha-glucosaminidase |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:29624734) |
Ensembl MGI |
PMID:29624734 |
GO_REF:0000107 |
NCBI chr17:42,536,241...42,544,449
Ensembl chr17:42,536,241...42,544,449
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NEO1 |
neogenin 1 |
acts_upstream_of_or_within |
IGI |
(PMID:16075058) |
MGI |
PMID:16075058 |
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NCBI chr15:73,051,692...73,305,206
Ensembl chr15:73,051,710...73,305,205
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PICALM |
phosphatidylinositol binding clathrin assembly protein |
involved_in |
IMP |
(PMID:22952941) |
Alzheimers_University_of_Toronto |
PMID:22952941 |
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NCBI chr11:85,957,175...86,069,860
Ensembl chr11:85,957,175...86,069,882
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RHAG |
Rh associated glycoprotein |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:19807729) |
Ensembl MGI |
PMID:19807729 |
GO_REF:0000107 |
NCBI chr 6:49,605,175...49,636,839
Ensembl chr 6:49,605,175...49,636,839
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RHD |
Rh blood group D antigen |
acts_upstream_of_or_within |
ISO |
(PMID:19807729) |
MGI |
PMID:19807729 |
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NCBI chr 1:25,272,486...25,330,445
Ensembl chr 1:25,272,393...25,330,445
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SLC11A1 |
solute carrier family 11 member 1 |
involved_in acts_upstream_of_or_within |
ISS ISO IEA |
(PMID:9824471) (PMID:19321419) |
BHF-UCL MGI Ensembl |
PMID:9824471 PMID:19321419 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:218,382,273...218,396,894
Ensembl chr 2:218,382,029...218,396,894
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SLC11A2 |
solute carrier family 11 member 2 |
involved_in acts_upstream_of_or_within |
IEA ISO IMP |
(PMID:18076961), (PMID:5070129) (PMID:15459009) |
Ensembl MGI BHF-UCL |
PMID:5070129 PMID:15459009 PMID:18076961 |
GO_REF:0000107 |
NCBI chr12:50,952,263...51,028,886
Ensembl chr12:50,979,401...51,028,566
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SLC40A1 |
solute carrier family 40 member 1 |
involved_in acts_upstream_of_or_within |
ISS ISO IEA |
(PMID:15342464), (PMID:19596281) |
BHF-UCL MGI Ensembl |
PMID:15342464 PMID:19596281 |
GO_REF:0000024 GO_REF:0000107 |
NCBI chr 2:189,560,590...189,580,786
Ensembl chr 2:189,560,590...189,583,758
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SOD2 |
superoxide dismutase 2 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15205258) |
Ensembl MGI |
PMID:15205258 |
GO_REF:0000107 |
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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TF |
transferrin |
involved_in |
IMP |
(PMID:11113131) |
UniProt |
PMID:11113131 |
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NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
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TFR2 |
transferrin receptor 2 |
involved_in acts_upstream_of_or_within |
IMP ISO IEA |
(PMID:21173098) (PMID:22960056) |
BHF-UCL MGI Ensembl |
PMID:21173098 PMID:22960056 |
GO_REF:0000107 |
NCBI chr 7:100,620,420...100,641,552
Ensembl chr 7:100,620,416...100,642,779
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TFRC |
transferrin receptor |
involved_in |
IDA |
(PMID:26642240) |
UniProt |
PMID:26642240 |
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NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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TMPRSS6 |
transmembrane serine protease 6 |
involved_in acts_upstream_of_or_within |
IEA ISO IMP |
(PMID:19751239) (PMID:18408718) |
Ensembl MGI UniProt |
PMID:18408718 PMID:19751239 |
GO_REF:0000107 |
NCBI chr22:37,065,436...37,110,536
Ensembl chr22:37,065,436...37,109,713
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BCL2 |
BCL2 apoptosis regulator |
involved_in |
IDA |
(PMID:10506221) |
UniProt |
PMID:10506221 |
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NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
involved_in |
IMP |
(PMID:11402072), (PMID:19061639) |
BHF-UCL |
PMID:11402072 PMID:19061639 |
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NCBI chr16:28,878,488...28,904,466
Ensembl chr16:28,878,405...28,904,466
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BAK1 |
BCL2 antagonist/killer 1 |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15613488) |
Ensembl MGI |
PMID:15613488 |
GO_REF:0000107 |
NCBI chr 6:33,572,552...33,580,276
Ensembl chr 6:33,572,547...33,580,293
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BAX |
BCL2 associated X, apoptosis regulator |
involved_in acts_upstream_of_or_within |
IEA ISO |
(PMID:15613488) |
Ensembl MGI |
PMID:15613488 |
GO_REF:0000107 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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RAP1GDS1 |
Rap1 GTPase-GDP dissociation stimulator 1 |
involved_in |
IMP |
(PMID:24349085) |
UniProt |
PMID:24349085 |
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NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858
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TGM2 |
transglutaminase 2 |
involved_in |
IEA IMP |
(PMID:24349085) |
Ensembl UniProt |
PMID:24349085 |
GO_REF:0000107 |
NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578
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THADA |
THADA armadillo repeat containing |
involved_in |
IMP |
(PMID:28399403) |
FlyBase |
PMID:28399403 |
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NCBI chr 2:43,230,851...43,596,038
Ensembl chr 2:43,230,851...43,596,038
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ISCU |
iron-sulfur cluster assembly enzyme |
involved_in |
IMP |
(PMID:20436681) |
ARUK-UCL |
PMID:20436681 |
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NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368
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FATE1 |
fetal and adult testis expressed 1 |
involved_in |
IDA IBA |
(PMID:12865919) |
UniProt GO_Central |
PMID:12865919 |
GO_REF:0000033 |
NCBI chr X:151,716,035...151,723,194
Ensembl chr X:151,716,035...151,723,194
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LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
involved_in |
IMP |
(PMID:26975899) |
UniProt |
PMID:26975899 |
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NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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MICU2 |
mitochondrial calcium uptake 2 |
involved_in |
IDA |
(PMID:24560927) |
UniProt |
PMID:24560927 |
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NCBI chr13:21,492,691...21,604,170
Ensembl chr13:21,492,691...21,604,181
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NOL3 |
nucleolar protein 3 |
involved_in |
ISO |
PMID:23382383 |
UniProt |
PMID:23382383 |
RGD:10047354 |
NCBI chr16:67,170,538...67,175,737
Ensembl chr16:67,170,154...67,175,737
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PRKCE |
protein kinase C epsilon |
involved_in |
ISO |
PMID:20383739 |
UniProt |
PMID:20383739 |
RGD:7206836 |
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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SLC25A27 |
solute carrier family 25 member 27 |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:16775390 |
GO_REF:0000107 RGD:6482848 |
NCBI chr 6:46,652,975...46,678,190
Ensembl chr 6:46,652,915...46,678,190
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FCRL5 |
Fc receptor like 5 |
acts_upstream_of_or_within |
ISO |
(PMID:23509253) |
MGI |
PMID:23509253 |
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NCBI chr 1:157,513,377...157,552,515
Ensembl chr 1:157,513,377...157,552,515
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FKBP1B |
FKBP prolyl isomerase 1B |
involved_in |
IDA |
(PMID:12443530) |
BHF-UCL |
PMID:12443530 |
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NCBI chr 2:24,033,206...24,063,681
Ensembl chr 2:24,049,701...24,063,681
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NTSR1 |
neurotensin receptor 1 |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:12084713 |
GO_REF:0000107 RGD:727385 |
NCBI chr20:62,708,836...62,762,771
Ensembl chr20:62,708,836...62,762,771
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G |
PRKCE |
protein kinase C epsilon |
involved_in |
ISO |
PMID:20383739 |
UniProt |
PMID:20383739 |
RGD:7206836 |
NCBI chr 2:45,651,279...46,187,990
Ensembl chr 2:45,651,345...46,187,990
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G |
TGFB1 |
transforming growth factor beta 1 |
involved_in |
ISO IEA |
|
RGD Ensembl |
PMID:12876066 |
GO_REF:0000107 RGD:731229 |
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TGFB2 |
transforming growth factor beta 2 |
|
ISO |
|
RGD |
PMID:12876066 |
RGD:731229 |
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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TRDN |
triadin |
|
ISO |
|
RGD |
PMID:16176928 |
RGD:7327230 |
NCBI chr 6:123,216,339...123,636,950
Ensembl chr 6:123,216,339...123,637,189
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SPX |
spexin hormone |
involved_in |
ISS |
|
UniProt |
|
GO_REF:0000024 |
NCBI chr12:21,526,296...21,532,947
Ensembl chr12:21,526,296...21,541,249
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CALM1 |
calmodulin 1 |
involved_in |
IDA ISS |
(PMID:26164367) |
UniProt BHF-UCL |
PMID:26164367 |
GO_REF:0000024 |
NCBI chr14:90,396,502...90,408,268
Ensembl chr14:90,396,502...90,408,268
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CALM2 |
calmodulin 2 |
involved_in |
IDA ISS |
(PMID:26164367) |
UniProt BHF-UCL |
PMID:26164367 |
GO_REF:0000024 |
NCBI chr 2:47,160,082...47,176,936
Ensembl chr 2:47,160,084...47,176,921
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CALM3 |
calmodulin 3 |
involved_in |
IDA ISS |
(PMID:26164367) |
UniProt BHF-UCL |
PMID:26164367 |
GO_REF:0000024 |
NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
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CASQ2 |
calsequestrin 2 |
involved_in |
ISS IDA |
(PMID:16601229) |
BHF-UCL |
PMID:16601229 |
GO_REF:0000024 |
NCBI chr 1:115,700,021...115,768,714
Ensembl chr 1:115,698,038...115,837,921
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CLIC2 |
chloride intracellular channel 2 |
involved_in |
IDA |
(PMID:15147738), (PMID:15916532) |
BHF-UCL |
PMID:15147738 PMID:15916532 |
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NCBI chr X:155,276,211...155,334,614
Ensembl chr X:155,276,211...155,334,657
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G |
GSTM2 |
glutathione S-transferase mu 2 |
involved_in |
IDA |
(PMID:17023043), (PMID:22406107) |
BHF-UCL |
| |