Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
|
|
|
|
|
|
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | The genetic association database. | Becker KG, etal., Nat Genet. 2004 May;36(5):431-2. |
2. | alpha- and beta-Adducin polymorphisms affect podocyte proteins and proteinuria in rodents and decline of renal function in human IgA nephropathy. | Ferrandi M, etal., J Mol Med (Berl). 2010 Feb;88(2):203-17. Epub 2009 Oct 17. |
3. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
4. | Primary structure and domain organization of human alpha and beta adducin. | Joshi R, etal., J Cell Biol 1991 Nov;115(3):665-75. |
5. | Polymorphisms in four candidate genes in young patients with essential hypertension. | Marcun Varda N, etal., Acta Paediatr. 2006 Mar;95(3):353-8. |
6. | Mild spherocytic hereditary elliptocytosis and altered levels of alpha- and gamma-adducins in beta-adducin-deficient mice. | Muro AF, etal., Blood 2000 Jun 15;95(12):3978-85. |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | [Association and interaction of AGT, AGTR1, ACE, ADRB2, DRD1, ADD1, ADD2, ATP2B1, TBXA2R and PTGS2 genes on the risk of hypertension in Antioquian population]. | Valencia DM, etal., Biomedica. 2013 Oct-Dec;33(4):598-614. |
PMID:3693401 | PMID:7490111 | PMID:7642559 | PMID:7707875 | PMID:7999065 | PMID:8563174 | PMID:8566798 | PMID:8619474 | PMID:8626479 | PMID:8810272 | PMID:8889549 | PMID:9110174 |
PMID:9244430 | PMID:9679146 | PMID:10485892 | PMID:11526103 | PMID:12427140 | PMID:12477932 | PMID:12653680 | PMID:12951058 | PMID:14517477 | PMID:14553963 | PMID:15146197 | PMID:15345747 |
PMID:15489334 | PMID:15528469 | PMID:15716695 | PMID:15815621 | PMID:15834281 | PMID:15963851 | PMID:16105548 | PMID:16116087 | PMID:16344560 | PMID:17301826 | PMID:17854487 | PMID:18003638 |
PMID:18347014 | PMID:18667944 | PMID:18787518 | PMID:18959617 | PMID:19460752 | PMID:19913121 | PMID:20379614 | PMID:20628086 | PMID:21606488 | PMID:21697133 | PMID:21832049 | PMID:21873635 |
PMID:24129186 | PMID:24927181 | PMID:25425738 | PMID:26045217 | PMID:26186194 | PMID:26723519 | PMID:27493446 | PMID:27880917 | PMID:28514442 | PMID:29568061 | PMID:29778605 | PMID:29901076 |
PMID:30196744 | PMID:30442766 | PMID:30463901 | PMID:30639242 | PMID:31586073 | PMID:31871319 | PMID:32707033 | PMID:33957083 | PMID:33961781 | PMID:34079125 | PMID:35063084 | PMID:35256949 |
PMID:35271311 | PMID:35337019 | PMID:35384245 | PMID:35446349 | PMID:36215168 | PMID:37827155 |
ADD2 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Add2 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Add2 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Add2 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ADD2 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ADD2 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Add2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ADD2 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ADD2 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Add2 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in ADD2
27 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_001617.3(ADD2):c.1881G>A (p.Lys627=) | single nucleotide variant | Malignant melanoma [RCV000065654] | Chr2:70663725 [GRCh38] Chr2:70890857 [GRCh37] Chr2:70744365 [NCBI36] Chr2:2p13.3 |
not provided |
NM_001617.3(ADD2):c.7G>A (p.Glu3Lys) | single nucleotide variant | Malignant melanoma [RCV000065655] | Chr2:70706402 [GRCh38] Chr2:70933534 [GRCh37] Chr2:70787042 [NCBI36] Chr2:2p13.3 |
not provided |
GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3 | copy number gain | See cases [RCV000133956] | Chr2:70709155..72346899 [GRCh38] Chr2:70936287..72574028 [GRCh37] Chr2:70789795..72427536 [NCBI36] Chr2:2p13.3-13.2 |
uncertain significance |
GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3 | copy number gain | See cases [RCV000136053] | Chr2:58279519..83586962 [GRCh38] Chr2:58506654..83814086 [GRCh37] Chr2:58360158..83667597 [NCBI36] Chr2:2p16.1-11.2 |
pathogenic |
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 | copy number gain | See cases [RCV000137586] | Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2 |
uncertain significance |
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 | copy number gain | See cases [RCV000141494] | Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2 |
benign |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 | copy number gain | not provided [RCV000752802] | Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3 | copy number gain | See cases [RCV000448688] | Chr2:62245236..86978895 [GRCh37] Chr2:2p15-11.2 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) | copy number gain | See cases [RCV000512056] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 | copy number gain | See cases [RCV000511212] | Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001617.4(ADD2):c.325G>A (p.Val109Ile) | single nucleotide variant | Inborn genetic diseases [RCV003249921] | Chr2:70696394 [GRCh38] Chr2:70923526 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1063A>C (p.Met355Leu) | single nucleotide variant | Inborn genetic diseases [RCV003274726] | Chr2:70683653 [GRCh38] Chr2:70910785 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.193G>C (p.Glu65Gln) | single nucleotide variant | Inborn genetic diseases [RCV003295149] | Chr2:70704450 [GRCh38] Chr2:70931582 [GRCh37] Chr2:2p13.3 |
uncertain significance |
Single allele | duplication | not provided [RCV000677942] | Chr2:63671346..85698002 [GRCh37] Chr2:2p15-11.2 |
pathogenic |
Single allele | deletion | not provided [RCV000714264] | Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 | copy number gain | not provided [RCV000752804] | Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001617.4(ADD2):c.50G>A (p.Gly17Glu) | single nucleotide variant | not provided [RCV000881979] | Chr2:70706359 [GRCh38] Chr2:70933491 [GRCh37] Chr2:2p13.3 |
benign |
NM_001617.4(ADD2):c.82G>A (p.Asp28Asn) | single nucleotide variant | not provided [RCV000965604] | Chr2:70706327 [GRCh38] Chr2:70933459 [GRCh37] Chr2:2p13.3 |
benign |
NM_001617.4(ADD2):c.1005G>T (p.Glu335Asp) | single nucleotide variant | not provided [RCV000964863] | Chr2:70683711 [GRCh38] Chr2:70910843 [GRCh37] Chr2:2p13.3 |
benign |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) | copy number gain | Mosaic trisomy 2 [RCV002280628] | Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NC_000002.11:g.(?_69240632)_(74779761_?)dup | duplication | not provided [RCV003122858] | Chr2:69240632..74779761 [GRCh37] Chr2:2p13.3-13.1 |
uncertain significance |
Single allele | duplication | not specified [RCV002286373] | Chr2:69512973..71153026 [GRCh38] Chr2:2p13.3 |
uncertain significance |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 | copy number loss | See cases [RCV002287563] | Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
NM_001617.4(ADD2):c.425G>A (p.Arg142Gln) | single nucleotide variant | Inborn genetic diseases [RCV002685247] | Chr2:70696294 [GRCh38] Chr2:70923426 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1931C>T (p.Pro644Leu) | single nucleotide variant | Inborn genetic diseases [RCV002683672] | Chr2:70663675 [GRCh38] Chr2:70890807 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.736G>A (p.Val246Ile) | single nucleotide variant | Inborn genetic diseases [RCV002946834] | Chr2:70690899 [GRCh38] Chr2:70918031 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.2080C>G (p.Pro694Ala) | single nucleotide variant | Inborn genetic diseases [RCV002912098] | Chr2:70663526 [GRCh38] Chr2:70890658 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.449C>T (p.Ala150Val) | single nucleotide variant | Inborn genetic diseases [RCV002892431] | Chr2:70696270 [GRCh38] Chr2:70923402 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1256T>G (p.Leu419Arg) | single nucleotide variant | Inborn genetic diseases [RCV002803396] | Chr2:70678831 [GRCh38] Chr2:70905963 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.338C>T (p.Thr113Met) | single nucleotide variant | Inborn genetic diseases [RCV002941826] | Chr2:70696381 [GRCh38] Chr2:70923513 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1244C>T (p.Pro415Leu) | single nucleotide variant | Inborn genetic diseases [RCV002714362] | Chr2:70678843 [GRCh38] Chr2:70905975 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1399G>A (p.Glu467Lys) | single nucleotide variant | Inborn genetic diseases [RCV002813192] | Chr2:70677862 [GRCh38] Chr2:70904994 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1903G>A (p.Ala635Thr) | single nucleotide variant | Inborn genetic diseases [RCV002675261] | Chr2:70663703 [GRCh38] Chr2:70890835 [GRCh37] Chr2:2p13.3 |
likely benign |
NM_001617.4(ADD2):c.1534T>A (p.Ser512Thr) | single nucleotide variant | Inborn genetic diseases [RCV003181312] | Chr2:70676855 [GRCh38] Chr2:70903987 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.55C>T (p.Pro19Ser) | single nucleotide variant | Inborn genetic diseases [RCV003211564] | Chr2:70706354 [GRCh38] Chr2:70933486 [GRCh37] Chr2:2p13.3 |
uncertain significance |
GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1 | copy number loss | not provided [RCV003223077] | Chr2:65296579..71305638 [GRCh37] Chr2:2p14-13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1033G>C (p.Val345Leu) | single nucleotide variant | Inborn genetic diseases [RCV003304523] | Chr2:70683683 [GRCh38] Chr2:70910815 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.661G>A (p.Asp221Asn) | single nucleotide variant | Inborn genetic diseases [RCV003265984] | Chr2:70692447 [GRCh38] Chr2:70919579 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1686C>G (p.Asp562Glu) | single nucleotide variant | Inborn genetic diseases [RCV003342542] | Chr2:70674733 [GRCh38] Chr2:70901865 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.695C>G (p.Ala232Gly) | single nucleotide variant | Inborn genetic diseases [RCV003373698] | Chr2:70692413 [GRCh38] Chr2:70919545 [GRCh37] Chr2:2p13.3 |
uncertain significance |
NM_001617.4(ADD2):c.1896C>T (p.Ser632=) | single nucleotide variant | not provided [RCV003427006] | Chr2:70663710 [GRCh38] Chr2:70890842 [GRCh37] Chr2:2p13.3 |
likely benign |
NM_001617.4(ADD2):c.1627G>A (p.Glu543Lys) | single nucleotide variant | not provided [RCV003427007] | Chr2:70674792 [GRCh38] Chr2:70901924 [GRCh37] Chr2:2p13.3 |
likely benign |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
WI-4105 |
|
||||||||||||||||||||||||||||||||||||||||
WI-13671 |
|
||||||||||||||||||||||||||||||||||||||||
SHGC-142110 |
|
||||||||||||||||||||||||||||||||||||||||
IB387 |
|
||||||||||||||||||||||||||||||||||||||||
RH12820 |
|
||||||||||||||||||||||||||||||||||||||||
SHGC-30541 |
|
||||||||||||||||||||||||||||||||||||||||
WI-11693 |
|
||||||||||||||||||||||||||||||||||||||||
A004B15 |
|
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | visual system | adipose tissue | appendage | entire extraembryonic component | pharyngeal arch | |
High | ||||||||||||||||||
Medium | 7 | 16 | 28 | 15 | 84 | 16 | 195 | 27 | 1757 | 20 | 81 | 129 | 5 | 1 | 2 | |||
Low | 1576 | 892 | 640 | 31 | 1040 | 16 | 1302 | 881 | 1892 | 82 | 927 | 768 | 16 | 862 | 796 | 1 | 1 | |
Below cutoff | 788 | 2082 | 978 | 500 | 681 | 356 | 2846 | 1284 | 84 | 259 | 441 | 701 | 152 | 340 | 1991 | 4 |
RefSeq Transcripts | NG_029481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001185054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001185055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_017482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_017488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011532502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054340427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB209227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB593080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC005234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC007395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF001597 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF038185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF486420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF486421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF486422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF486423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH007372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK291007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK297250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK309773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY660004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC008709 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC011416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC027876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC041666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC051882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC056881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC065525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX119247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CN428088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA501584 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
N53078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U43959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000264436 ⟹ ENSP00000264436 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000355733 ⟹ ENSP00000347972 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000403045 ⟹ ENSP00000384303 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000407644 ⟹ ENSP00000384677 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000413157 ⟹ ENSP00000388072 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000415348 ⟹ ENSP00000412357 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000425976 ⟹ ENSP00000412681 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000430656 ⟹ ENSP00000398112 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000447731 ⟹ ENSP00000403722 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000456320 ⟹ ENSP00000414546 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000473232 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000481675 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000496178 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000522886 ⟹ ENSP00000430243 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001185054 ⟹ NP_001171983 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001185055 ⟹ NP_001171984 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_001617 ⟹ NP_001608 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_017482 ⟹ NP_059516 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_017488 ⟹ NP_059522 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011532502 ⟹ XP_011530804 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_054340427 ⟹ XP_054196402 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001171983 | (Get FASTA) | NCBI Sequence Viewer |
NP_001171984 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001608 | (Get FASTA) | NCBI Sequence Viewer | |
NP_059516 | (Get FASTA) | NCBI Sequence Viewer | |
NP_059522 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011530804 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054196402 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA86421 | (Get FASTA) | NCBI Sequence Viewer |
AAD12715 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14349 | (Get FASTA) | NCBI Sequence Viewer | |
AAH08709 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10237 | (Get FASTA) | NCBI Sequence Viewer | |
AAH41666 | (Get FASTA) | NCBI Sequence Viewer | |
AAH51882 | (Get FASTA) | NCBI Sequence Viewer | |
AAH56881 | (Get FASTA) | NCBI Sequence Viewer | |
AAH65525 | (Get FASTA) | NCBI Sequence Viewer | |
AAP71863 | (Get FASTA) | NCBI Sequence Viewer | |
AAP71864 | (Get FASTA) | NCBI Sequence Viewer | |
AAP71865 | (Get FASTA) | NCBI Sequence Viewer | |
AAP71866 | (Get FASTA) | NCBI Sequence Viewer | |
BAD92464 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83696 | (Get FASTA) | NCBI Sequence Viewer | |
BAG59729 | (Get FASTA) | NCBI Sequence Viewer | |
BAJ84020 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99798 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99799 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99800 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99801 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99802 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99803 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99804 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99805 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99806 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99807 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99808 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000264436 | ||
ENSP00000264436.3 | |||
ENSP00000347972 | |||
ENSP00000347972.3 | |||
ENSP00000384303.2 | |||
ENSP00000384677 | |||
ENSP00000384677.2 | |||
ENSP00000388072 | |||
ENSP00000388072.2 | |||
ENSP00000398112 | |||
ENSP00000398112.1 | |||
ENSP00000403722.1 | |||
ENSP00000412357.1 | |||
ENSP00000412681.1 | |||
ENSP00000414546.3 | |||
ENSP00000430243.1 | |||
GenBank Protein | P35612 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001608 ⟸ NM_001617 |
- Peptide Label: | isoform a |
- UniProtKB: | Q7Z690 (UniProtKB/Swiss-Prot), Q7Z689 (UniProtKB/Swiss-Prot), Q7Z688 (UniProtKB/Swiss-Prot), Q6PGQ4 (UniProtKB/Swiss-Prot), Q6P0P2 (UniProtKB/Swiss-Prot), Q5U5P4 (UniProtKB/Swiss-Prot), Q59G82 (UniProtKB/Swiss-Prot), Q16412 (UniProtKB/Swiss-Prot), Q13482 (UniProtKB/Swiss-Prot), D6W5G8 (UniProtKB/Swiss-Prot), D6W5G7 (UniProtKB/Swiss-Prot), B4DM17 (UniProtKB/Swiss-Prot), A8K4P2 (UniProtKB/Swiss-Prot), Q7Z691 (UniProtKB/Swiss-Prot), P35612 (UniProtKB/Swiss-Prot), Q05DK5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_059522 ⟸ NM_017488 |
- Peptide Label: | isoform e |
- UniProtKB: | Q05DK5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001171983 ⟸ NM_001185054 |
- Peptide Label: | isoform a |
- UniProtKB: | Q7Z690 (UniProtKB/Swiss-Prot), Q7Z689 (UniProtKB/Swiss-Prot), Q7Z688 (UniProtKB/Swiss-Prot), Q6PGQ4 (UniProtKB/Swiss-Prot), Q6P0P2 (UniProtKB/Swiss-Prot), Q5U5P4 (UniProtKB/Swiss-Prot), Q59G82 (UniProtKB/Swiss-Prot), Q16412 (UniProtKB/Swiss-Prot), Q13482 (UniProtKB/Swiss-Prot), D6W5G8 (UniProtKB/Swiss-Prot), D6W5G7 (UniProtKB/Swiss-Prot), B4DM17 (UniProtKB/Swiss-Prot), A8K4P2 (UniProtKB/Swiss-Prot), Q7Z691 (UniProtKB/Swiss-Prot), P35612 (UniProtKB/Swiss-Prot), Q05DK5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001171984 ⟸ NM_001185055 |
- Peptide Label: | isoform f |
- UniProtKB: | P35612 (UniProtKB/Swiss-Prot), Q05DK5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_059516 ⟸ NM_017482 |
- Peptide Label: | isoform b |
- UniProtKB: | P35612 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_011530804 ⟸ XM_011532502 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z690 (UniProtKB/Swiss-Prot), Q7Z689 (UniProtKB/Swiss-Prot), Q7Z688 (UniProtKB/Swiss-Prot), Q6PGQ4 (UniProtKB/Swiss-Prot), Q6P0P2 (UniProtKB/Swiss-Prot), Q5U5P4 (UniProtKB/Swiss-Prot), Q59G82 (UniProtKB/Swiss-Prot), Q16412 (UniProtKB/Swiss-Prot), Q13482 (UniProtKB/Swiss-Prot), D6W5G8 (UniProtKB/Swiss-Prot), D6W5G7 (UniProtKB/Swiss-Prot), B4DM17 (UniProtKB/Swiss-Prot), A8K4P2 (UniProtKB/Swiss-Prot), Q7Z691 (UniProtKB/Swiss-Prot), P35612 (UniProtKB/Swiss-Prot), Q05DK5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000412681 ⟸ ENST00000425976 |
RefSeq Acc Id: | ENSP00000388072 ⟸ ENST00000413157 |
RefSeq Acc Id: | ENSP00000412357 ⟸ ENST00000415348 |
RefSeq Acc Id: | ENSP00000414546 ⟸ ENST00000456320 |
RefSeq Acc Id: | ENSP00000384303 ⟸ ENST00000403045 |
RefSeq Acc Id: | ENSP00000430243 ⟸ ENST00000522886 |
RefSeq Acc Id: | ENSP00000398112 ⟸ ENST00000430656 |
RefSeq Acc Id: | ENSP00000384677 ⟸ ENST00000407644 |
RefSeq Acc Id: | ENSP00000403722 ⟸ ENST00000447731 |
RefSeq Acc Id: | ENSP00000347972 ⟸ ENST00000355733 |
RefSeq Acc Id: | ENSP00000264436 ⟸ ENST00000264436 |
RefSeq Acc Id: | XP_054196402 ⟸ XM_054340427 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q7Z690 (UniProtKB/Swiss-Prot), Q7Z689 (UniProtKB/Swiss-Prot), Q7Z688 (UniProtKB/Swiss-Prot), Q6PGQ4 (UniProtKB/Swiss-Prot), Q6P0P2 (UniProtKB/Swiss-Prot), Q5U5P4 (UniProtKB/Swiss-Prot), Q59G82 (UniProtKB/Swiss-Prot), Q16412 (UniProtKB/Swiss-Prot), Q13482 (UniProtKB/Swiss-Prot), P35612 (UniProtKB/Swiss-Prot), D6W5G8 (UniProtKB/Swiss-Prot), D6W5G7 (UniProtKB/Swiss-Prot), B4DM17 (UniProtKB/Swiss-Prot), A8K4P2 (UniProtKB/Swiss-Prot), Q7Z691 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P35612-F1-model_v2 | AlphaFold | P35612 | 1-726 | view protein structure |
RGD ID: | 6860604 | ||||||||
Promoter ID: | EPDNEW_H3467 | ||||||||
Type: | initiation region | ||||||||
Name: | ADD2_1 | ||||||||
Description: | adducin 2 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6796746 | ||||||||
Promoter ID: | HG_KWN:33146 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000331313 | ||||||||
Position: |
|
RGD ID: | 6797169 | ||||||||
Promoter ID: | HG_KWN:33147 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562, NB4 | ||||||||
Transcripts: | ENST00000264439, NM_001185054, NM_001185055, NM_017482, NM_017483, NM_017484, NM_017488, OTTHUMT00000251918, OTTHUMT00000330123, OTTHUMT00000331213, OTTHUMT00000331240, OTTHUMT00000331241, OTTHUMT00000331242, UC002SHA.1, UC002SHD.1 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:244 | AgrOrtholog |
COSMIC | ADD2 | COSMIC |
Ensembl Genes | ENSG00000075340 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000264436 | ENTREZGENE |
ENST00000264436.9 | UniProtKB/Swiss-Prot | |
ENST00000355733 | ENTREZGENE | |
ENST00000355733.7 | UniProtKB/Swiss-Prot | |
ENST00000403045.6 | UniProtKB/Swiss-Prot | |
ENST00000407644 | ENTREZGENE | |
ENST00000407644.6 | UniProtKB/Swiss-Prot | |
ENST00000413157 | ENTREZGENE | |
ENST00000413157.6 | UniProtKB/Swiss-Prot | |
ENST00000415348.5 | UniProtKB/TrEMBL | |
ENST00000425976.5 | UniProtKB/TrEMBL | |
ENST00000430656 | ENTREZGENE | |
ENST00000430656.5 | UniProtKB/Swiss-Prot | |
ENST00000447731.6 | UniProtKB/TrEMBL | |
ENST00000456320.7 | UniProtKB/TrEMBL | |
ENST00000522886.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.225.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000075340 | GTEx |
HGNC ID | HGNC:244 | ENTREZGENE |
Human Proteome Map | ADD2 | Human Proteome Map |
InterPro | Aldolase_II/adducin_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Aldolase_II/adducin_N_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:119 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 119 | ENTREZGENE |
OMIM | 102681 | OMIM |
PANTHER | ADDUCIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR10672:SF6 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Aldolase_II | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA24566 | PharmGKB |
SMART | Aldolase_II | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53639 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A1C7CYY0_HUMAN | UniProtKB/TrEMBL |
A8K4P2 | ENTREZGENE | |
ADDB_HUMAN | UniProtKB/Swiss-Prot | |
B4DM17 | ENTREZGENE | |
C9J080_HUMAN | UniProtKB/TrEMBL | |
C9J299_HUMAN | UniProtKB/TrEMBL | |
C9JJK3_HUMAN | UniProtKB/TrEMBL | |
C9JTM0_HUMAN | UniProtKB/TrEMBL | |
D6W5G7 | ENTREZGENE | |
D6W5G8 | ENTREZGENE | |
P35612 | ENTREZGENE | |
Q05DK5 | ENTREZGENE, UniProtKB/TrEMBL | |
Q13482 | ENTREZGENE | |
Q16412 | ENTREZGENE | |
Q59G82 | ENTREZGENE | |
Q5U5P4 | ENTREZGENE | |
Q6P0P2 | ENTREZGENE | |
Q6PGQ4 | ENTREZGENE | |
Q7Z688 | ENTREZGENE | |
Q7Z689 | ENTREZGENE | |
Q7Z690 | ENTREZGENE | |
Q7Z691 | ENTREZGENE | |
UniProt Secondary | A8K4P2 | UniProtKB/Swiss-Prot |
B4DM17 | UniProtKB/Swiss-Prot | |
D6W5G7 | UniProtKB/Swiss-Prot | |
D6W5G8 | UniProtKB/Swiss-Prot | |
Q13482 | UniProtKB/Swiss-Prot | |
Q16412 | UniProtKB/Swiss-Prot | |
Q59G82 | UniProtKB/Swiss-Prot | |
Q5U5P4 | UniProtKB/Swiss-Prot | |
Q6P0P2 | UniProtKB/Swiss-Prot | |
Q6PGQ4 | UniProtKB/Swiss-Prot | |
Q7Z688 | UniProtKB/Swiss-Prot | |
Q7Z689 | UniProtKB/Swiss-Prot | |
Q7Z690 | UniProtKB/Swiss-Prot | |
Q7Z691 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-01 | ADD2 | adducin 2 | adducin 2 (beta) | Symbol and/or name change | 5135510 | APPROVED |