SLC25A11 (solute carrier family 25 member 11) - Rat Genome Database

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Gene: SLC25A11 (solute carrier family 25 member 11) Homo sapiens
Analyze
Symbol: SLC25A11
Name: solute carrier family 25 member 11
RGD ID: 732504
HGNC Page HGNC:10981
Description: Enables RNA binding activity. Involved in malate-aspartate shuttle. Located in mitochondrion and nucleus. Implicated in paraganglioma.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2-oxoglutarate carrier; alpha-oxoglutarate carrier; mitochondrial 2-oxoglutarate/malate carrier protein; OGC; OGCP; PGL6; PPGL6; SLC20A4; solute carrier family 20 (oxoglutarate carrier), member 4; solute carrier family 25 (mitochondrial carrier, oxoglutarate carrier), member 11
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,937,130 - 4,940,046 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,937,130 - 4,940,053 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,840,425 - 4,843,341 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,781,349 - 4,784,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 34174,781,348 - 4,784,063NCBI
Celera174,855,235 - 4,858,273 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,728,014 - 4,731,052 (-)NCBIHuRef
CHM1_1174,849,762 - 4,852,800 (-)NCBICHM1_1
T2T-CHM13v2.0174,827,477 - 4,830,394 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11Humancongenital myasthenic syndrome 4A  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Congenital myasthenic syndrome 4AClinVarPMID:28492532
SLC25A11HumanParagangliomas 6  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Paragangliomas 6ClinVarPMID:29431636
SLC25A11HumanParagangliomas 6  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SLC25A11-related conditionClinVarPMID:28492532
SLC25A11Humanspastic ataxia 2  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Spastic ataxia 2ClinVarPMID:28492532
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11Humanadult respiratory distress syndrome  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:25070658
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11HumanParagangliomas 6  IAGP 7240710 OMIM 

1 to 20 of 91 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11Human(+)-schisandrin B multiple interactionsISOSlc25a11 (Rattus norvegicus)6480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of SLC25A11 mRNA]CTDPMID:31150632
SLC25A11Human(1->4)-beta-D-glucan multiple interactionsISOSlc25a11 (Mus musculus)6480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of SLC25A11 mRNACTDPMID:36331819
SLC25A11Human1,2-dimethylhydrazine decreases expressionISOSlc25a11 (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of SLC25A11 mRNACTDPMID:22206623
SLC25A11Human1,2-dimethylhydrazine multiple interactionsISOSlc25a11 (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SLC25A11 mRNACTDPMID:22206623
SLC25A11Human17alpha-ethynylestradiol affects expressionISOSlc25a11 (Mus musculus)6480464Ethinyl Estradiol affects the expression of SLC25A11 mRNACTDPMID:17555576
SLC25A11Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISOSlc25a11 (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of SLC25A11 mRNACTDPMID:21570461
SLC25A11Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISOSlc25a11 (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of SLC25A11 mRNACTDPMID:33387578
SLC25A11Human4,4'-sulfonyldiphenol decreases expressionISOSlc25a11 (Mus musculus)6480464bisphenol S results in decreased expression of SLC25A11 mRNACTDPMID:33297965
SLC25A11Human4,4'-sulfonyldiphenol multiple interactionsISOSlc25a11 (Rattus norvegicus)6480464[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of SLC25A11 mRNACTDPMID:36041667
SLC25A11Human4,4'-sulfonyldiphenol increases expressionEXP 6480464bisphenol S results in increased expression of SLC25A11 proteinCTDPMID:34186270
SLC25A11Humanacrylamide increases expressionISOSlc25a11 (Rattus norvegicus)6480464Acrylamide results in increased expression of SLC25A11 mRNACTDPMID:28959563
SLC25A11Humanacrylamide decreases expressionEXP 6480464Acrylamide results in decreased expression of SLC25A11 mRNACTDPMID:32763439
SLC25A11Humanacrylamide increases expressionISOSlc25a11 (Mus musculus)6480464Acrylamide results in increased expression of SLC25A11 mRNACTDPMID:30807115
SLC25A11Humanall-trans-retinoic acid increases expressionEXP 6480464Tretinoin results in increased expression of SLC25A11 mRNACTDPMID:33167477
SLC25A11Humanammonium chloride affects expressionISOSlc25a11 (Rattus norvegicus)6480464Ammonium Chloride affects the expression of SLC25A11 mRNACTDPMID:16483693
SLC25A11Humanaristolochic acid A decreases expressionEXP 6480464aristolochic acid I results in decreased expression of SLC25A11 mRNA and aristolochic acid I results in decreased expression of SLC25A11 proteinCTDPMID:33212167
SLC25A11Humanarsenite(3-) multiple interactionsEXP 6480464arsenite inhibits the reaction [G3BP1 protein binds to SLC25A11 protein]CTDPMID:32406909
SLC25A11Humanatrazine decreases expressionEXP 6480464Atrazine results in decreased expression of SLC25A11 mRNACTDPMID:22378314
SLC25A11Humanbenzo[a]pyrene decreases expressionEXP 6480464Benzo(a)pyrene results in decreased expression of SLC25A11 mRNACTDPMID:20106945
SLC25A11Humanbenzo[a]pyrene increases expressionISOSlc25a11 (Mus musculus)6480464Benzo(a)pyrene results in increased expression of SLC25A11 mRNACTDPMID:22228805

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Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11Humanalpha-ketoglutarate transport involved_inIEAGO:0015367150520179 GOCGO_REF:0000108
SLC25A11Humangluconeogenesis involved_inIEAUniProtKB:Q9CR62 and ensembl:ENSMUSP00000014750150520179 EnsemblGO_REF:0000107
SLC25A11Humanlipid transport involved_inIEAUniProtKB-KW:KW-0445150520179 UniProtGO_REF:0000043
SLC25A11Humanmalate transmembrane transport involved_inIEAGO:0015367150520179 GOCGO_REF:0000108
SLC25A11Humanmalate-aspartate shuttle involved_inIEAUniProtKB:Q9CR62 and ensembl:ENSMUSP00000014750150520179 EnsemblGO_REF:0000107
SLC25A11Humanmalate-aspartate shuttle involved_inIMP 150520179 PMID:37647199FlyBasePMID:37647199
SLC25A11Humantransmembrane transport involved_inIEAGO:0015297 and GO:0022857150520179 GOCGO_REF:0000108

Cellular Component
1 to 12 of 12 rows

  
Object Symbol
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Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11Humanmembrane located_inIEAUniRule:UR000413536150520179 UniProtGO_REF:0000104
SLC25A11Humanmembrane located_inIEAUniProtKB-SubCell:SL-0162150520179 UniProtGO_REF:0000044
SLC25A11Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
SLC25A11Humanmitochondrial inner membrane located_inIEAUniProtKB-KW:KW-0999150520179 UniProtGO_REF:0000043
SLC25A11Humanmitochondrial inner membrane is_active_inIEAUniProtKB:Q9CR62 and ensembl:ENSMUSP00000014750150520179 EnsemblGO_REF:0000107
SLC25A11Humanmitochondrial inner membrane located_inIEAUniProtKB-SubCell:SL-0168150520179 UniProtGO_REF:0000044
SLC25A11Humanmitochondrial inner membrane located_inTAS 150520179 PMID:1457818ReactomePMID:1457818 more ...
SLC25A11Humanmitochondrion located_inHDA 150520179 PMID:20833797UniProtPMID:20833797
SLC25A11Humanmitochondrion located_inIEAUniProtKB-KW:KW-0496150520179 UniProtGO_REF:0000043
SLC25A11Humanmitochondrion located_inHTP 150520179 PMID:34800366FlyBasePMID:34800366
SLC25A11Humannucleus located_inHDA 150520179 PMID:21630459UniProtPMID:21630459
SLC25A11Humanplasma membrane located_inTAS 150520179 PMID:1457818PINCPMID:1457818
1 to 12 of 12 rows

Molecular Function

  

Imported Annotations - SMPDB

1 to 20 of 45 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
SLC25A11HumanAdrenal pheochromocytoma  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanAniridia  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanArachnoid hemangiomatosis  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:618464
SLC25A11HumanCerebral hemorrhage  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanChest pain  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanConductive hearing impairment  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanCongestive heart failure  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanCranial nerve compression  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanDysphonia  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanElevated circulating calcitonin concentration  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanElevated circulating catecholamine level  IAGP 8699517 HPOMIM:618464
SLC25A11HumanElevated urinary dopamine level  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanElevated urinary epinephrine level  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanElevated urinary norepinephrine level  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanEpisodic abdominal pain  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanEpisodic hyperhidrosis  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanEpisodic paroxysmal anxiety  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanExtraadrenal pheochromocytoma  IAGP 8699517 HPOORPHA:29072
SLC25A11HumanFatigue  IAGP 8699517 HPOORPHA:29072
1 to 20 of 45 rows

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
1 to 10 of 17 rows
PMID:1457818   PMID:8597574   PMID:8619474   PMID:8769314   PMID:9110174   PMID:9639574   PMID:10072597   PMID:12477932   PMID:12939596   PMID:15489334   PMID:16169070   PMID:16712791  
PMID:16920706   PMID:17082780   PMID:17314511   PMID:19615732   PMID:19913121   PMID:20186120   PMID:20562859   PMID:20628086   PMID:20833797   PMID:20877624   PMID:21081666   PMID:21448454  
PMID:21500544   PMID:21630459   PMID:21873635   PMID:22268729   PMID:22678362   PMID:22681889   PMID:22810586   PMID:22939629   PMID:22990118   PMID:23054077   PMID:23125841   PMID:23246001  
PMID:23266187   PMID:23464991   PMID:23658844   PMID:23798571   PMID:24457600   PMID:25315684   PMID:25332235   PMID:25437307   PMID:25798074   PMID:25852190   PMID:25921289   PMID:25963833  
PMID:26170170   PMID:26186194   PMID:26344197   PMID:26485645   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26752685   PMID:26972000   PMID:27025967   PMID:27218139   PMID:27342126  
PMID:27499296   PMID:27503909   PMID:27684187   PMID:28186131   PMID:28242297   PMID:28298427   PMID:28443643   PMID:28514442   PMID:28515276   PMID:28718761   PMID:28775156   PMID:28883622  
PMID:28902428   PMID:29053956   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29431636   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29568061  
PMID:29615496   PMID:29844126   PMID:29845934   PMID:29955894   PMID:29991511   PMID:30154076   PMID:30209976   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30462309   PMID:30463901  
PMID:30472188   PMID:30554943   PMID:30575818   PMID:30581152   PMID:30619736   PMID:30686754   PMID:30833792   PMID:30940648   PMID:30948266   PMID:31059266   PMID:31091453   PMID:31298480  
PMID:31318583   PMID:31527615   PMID:31536960   PMID:31586073   PMID:31594818   PMID:31620119   PMID:31732153   PMID:31753913   PMID:31796584   PMID:31822558   PMID:31871319   PMID:31980649  
1 to 10 of 17 rows



SLC25A11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38174,937,130 - 4,940,046 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl174,937,130 - 4,940,053 (-)EnsemblGRCh38hg38GRCh38
GRCh37174,840,425 - 4,843,341 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36174,781,349 - 4,784,063 (-)NCBINCBI36Build 36hg18NCBI36
Build 34174,781,348 - 4,784,063NCBI
Celera174,855,235 - 4,858,273 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef174,728,014 - 4,731,052 (-)NCBIHuRef
CHM1_1174,849,762 - 4,852,800 (-)NCBICHM1_1
T2T-CHM13v2.0174,827,477 - 4,830,394 (-)NCBIT2T-CHM13v2.0
Slc25a11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,534,845 - 70,538,356 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,535,022 - 70,538,305 (-)EnsemblGRCm39 Ensembl
GRCm381170,644,019 - 70,647,531 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,644,196 - 70,647,479 (-)EnsemblGRCm38mm10GRCm38
MGSCv371170,457,698 - 70,460,495 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361170,460,391 - 70,463,188 (-)NCBIMGSCv36mm8
Celera1178,195,171 - 78,197,968 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1143.21NCBI
Slc25a11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,856,209 - 55,859,060 (-)NCBIGRCr8
mRatBN7.21055,357,590 - 55,360,441 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1055,357,597 - 55,360,410 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1060,038,200 - 60,041,051 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01059,526,706 - 59,529,557 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01055,025,812 - 55,028,663 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01057,265,903 - 57,268,018 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1057,265,704 - 57,268,081 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01057,011,497 - 57,013,612 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41057,524,561 - 57,526,676 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11057,538,183 - 57,540,299 (-)NCBI
Celera1054,503,719 - 54,505,834 (-)NCBICelera
Cytogenetic Map10q24NCBI
Slc25a11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546710,349,378 - 10,355,368 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546710,349,378 - 10,352,649 (-)NCBIChiLan1.0ChiLan1.0
SLC25A11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21912,547,345 - 12,550,022 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11714,515,703 - 14,518,345 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0174,985,477 - 4,988,348 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1174,973,000 - 4,975,878 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl174,973,000 - 4,975,878 (-)Ensemblpanpan1.1panPan2
SLC25A11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1531,676,826 - 31,680,138 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl531,675,740 - 31,679,933 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha531,814,780 - 31,818,149 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0531,780,196 - 31,783,564 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl531,780,804 - 31,783,559 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1531,746,734 - 31,750,103 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0531,706,440 - 31,709,808 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0531,882,816 - 31,886,184 (+)NCBIUU_Cfam_GSD_1.0
Slc25a11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560253,127,002 - 53,129,890 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366772,770,964 - 2,776,022 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366772,770,969 - 2,773,973 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1251,970,806 - 51,975,548 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11251,970,794 - 51,973,668 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,039,520 - 54,042,613 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC25A11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1164,418,555 - 4,421,745 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl164,416,259 - 4,421,162 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605917,212,060 - 17,215,298 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc25a11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247868,795,083 - 8,797,882 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247868,795,077 - 8,797,871 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in SLC25A11
42 total Variants

1 to 10 of 104 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
NM_001165417.1(SLC25A11):c.551A>G (p.Asn184Ser) single nucleotide variant Malignant melanoma [RCV000071571] Chr17:4938392 [GRCh38]
Chr17:4841687 [GRCh37]
Chr17:4782432 [NCBI36]
Chr17:17p13.2
not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3 copy number gain See cases [RCV000139650] Chr17:4092608..5354473 [GRCh38]
Chr17:3995902..5257768 [GRCh37]
Chr17:3942651..5198492 [NCBI36]
Chr17:17p13.2
likely benign
1 to 10 of 104 rows

Predicted Target Of
Summary Value
Count of predictions:1917
Count of miRNA genes:706
Interacting mature miRNAs:834
Transcripts:ENST00000225665, ENST00000544061, ENST00000570543, ENST00000574710, ENST00000576951
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


1 to 10 of 23 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597593694GWAS1650554_Hplatelet count QTL GWAS1650554 (human)5e-22platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
597590973GWAS1647833_Hplatelet count QTL GWAS1647833 (human)2e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
597593725GWAS1650585_Hplatelet count QTL GWAS1650585 (human)4e-103platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
597615062GWAS1671922_Hplatelet count QTL GWAS1671922 (human)6e-67platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
597307795GWAS1403869_Hplatelet count QTL GWAS1403869 (human)2e-135platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
597162364GWAS1258438_Hplatelet count QTL GWAS1258438 (human)3e-85platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
597182419GWAS1278493_Hplatelet glycoprotein ib alpha chain measurement QTL GWAS1278493 (human)3e-38platelet glycoprotein ib alpha chain measurement1749375734937574Human
406963724GWAS612700_Hplatelet crit QTL GWAS612700 (human)1e-12platelet quantity (VT:0003179)plateletcrit (CMO:0001349)1749375734937574Human
597616211GWAS1673071_Hplatelet count QTL GWAS1673071 (human)2e-84platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human
406954606GWAS603582_Hplatelet count QTL GWAS603582 (human)1e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)1749375734937574Human

1 to 10 of 23 rows
STS-T79192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,840,900 - 4,841,050UniSTSGRCh37
Build 36174,781,645 - 4,781,795RGDNCBI36
Celera174,855,711 - 4,855,861RGD
Cytogenetic Map17p13.3UniSTS
HuRef174,728,490 - 4,728,640UniSTS
GeneMap99-GB4 RH Map1739.78UniSTS
NCBI RH Map1754.6UniSTS
SLC25A11_3257.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,840,521 - 4,841,138UniSTSGRCh37
Build 36174,781,265 - 4,781,883RGDNCBI36
Celera174,855,331 - 4,855,949RGD
HuRef174,728,110 - 4,728,728UniSTS
RH11767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,840,715 - 4,840,837UniSTSGRCh37
Build 36174,781,459 - 4,781,582RGDNCBI36
Celera174,855,525 - 4,855,648RGD
Cytogenetic Map17p13.3UniSTS
HuRef174,728,304 - 4,728,427UniSTS
GeneMap99-GB4 RH Map1744.55UniSTS
NCBI RH Map1754.6UniSTS
SHGC-31613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,840,625 - 4,840,776UniSTSGRCh37
Build 36174,781,369 - 4,781,520RGDNCBI36
Celera174,855,435 - 4,855,586RGD
Cytogenetic Map17p13.3UniSTS
HuRef174,728,214 - 4,728,365UniSTS
Stanford-G3 RH Map17295.0UniSTS
GeneMap99-GB4 RH Map1744.55UniSTS
Whitehead-RH Map1743.1UniSTS
NCBI RH Map1777.3UniSTS
GeneMap99-G3 RH Map17295.0UniSTS
MARC_2889-2890:991933627:9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37174,841,528 - 4,842,090UniSTSGRCh37
Build 36174,782,273 - 4,782,835RGDNCBI36
Celera174,856,339 - 4,856,901RGD
HuRef174,729,118 - 4,729,680UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171


1 to 22 of 22 rows
RefSeq Transcripts NM_001165417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001165418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA937945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI752999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM047391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB155476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X66114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 22 of 22 rows

Ensembl Acc Id: ENST00000225665   ⟹   ENSP00000225665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,937,130 - 4,940,046 (-)Ensembl
Ensembl Acc Id: ENST00000544061   ⟹   ENSP00000440804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,937,724 - 4,940,053 (-)Ensembl
Ensembl Acc Id: ENST00000570543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,938,154 - 4,938,557 (-)Ensembl
Ensembl Acc Id: ENST00000574710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,937,317 - 4,940,030 (-)Ensembl
Ensembl Acc Id: ENST00000576951   ⟹   ENSP00000458993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl174,937,763 - 4,939,913 (-)Ensembl
RefSeq Acc Id: NM_001165417   ⟹   NP_001158889
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,937,130 - 4,940,046 (-)NCBI
GRCh37174,840,425 - 4,843,462 (-)ENTREZGENE
HuRef174,728,014 - 4,731,052 (-)ENTREZGENE
CHM1_1174,849,762 - 4,852,800 (-)NCBI
T2T-CHM13v2.0174,827,477 - 4,830,394 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001165418   ⟹   NP_001158890
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,937,130 - 4,940,046 (-)NCBI
GRCh37174,840,425 - 4,843,462 (-)ENTREZGENE
HuRef174,728,014 - 4,731,052 (-)ENTREZGENE
CHM1_1174,849,762 - 4,852,800 (-)NCBI
T2T-CHM13v2.0174,827,477 - 4,830,394 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003562   ⟹   NP_003553
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,937,130 - 4,940,046 (-)NCBI
GRCh37174,840,425 - 4,843,462 (-)ENTREZGENE
Build 36174,781,349 - 4,784,063 (-)NCBI Archive
HuRef174,728,014 - 4,731,052 (-)ENTREZGENE
CHM1_1174,849,762 - 4,852,800 (-)NCBI
T2T-CHM13v2.0174,827,477 - 4,830,394 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001158889   ⟸   NM_001165417
- Peptide Label: isoform 2
- UniProtKB: I3L1P8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001158890   ⟸   NM_001165418
- Peptide Label: isoform 3
- UniProtKB: I3L1P8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003553   ⟸   NM_003562
- Peptide Label: isoform 1
- UniProtKB: O75537 (UniProtKB/Swiss-Prot),   F5GY65 (UniProtKB/Swiss-Prot),   Q969P7 (UniProtKB/Swiss-Prot),   Q02978 (UniProtKB/Swiss-Prot),   Q6IBH0 (UniProtKB/TrEMBL),   I3L1P8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000440804   ⟸   ENST00000544061
Ensembl Acc Id: ENSP00000458993   ⟸   ENST00000576951

Name Modeler Protein Id AA Range Protein Structure
AF-Q02978-F1-model_v2 AlphaFold Q02978 1-314 view protein structure

RGD ID:6794539
Promoter ID:HG_KWN:24759
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001165417,   NM_001165418,   OTTHUMT00000216852,   UC002FZP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36174,783,361 - 4,785,102 (-)MPROMDB
RGD ID:7233479
Promoter ID:EPDNEW_H22485
Type:initiation region
Name:SLC25A11_1
Description:solute carrier family 25 member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38174,940,046 - 4,940,106EPDNEW


1 to 32 of 32 rows
Database
Acc Id
Source(s)
COSMIC SLC25A11 COSMIC
Ensembl Genes ENSG00000108528 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000225665 ENTREZGENE
  ENST00000225665.12 UniProtKB/Swiss-Prot
  ENST00000544061 ENTREZGENE
  ENST00000544061.6 UniProtKB/Swiss-Prot
  ENST00000576951 ENTREZGENE
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot
GTEx ENSG00000108528 GTEx
HGNC ID HGNC:10981 ENTREZGENE
Human Proteome Map SLC25A11 Human Proteome Map
InterPro Mito_Metabolite_Transporter UniProtKB/Swiss-Prot
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:8402 UniProtKB/Swiss-Prot
NCBI Gene 8402 ENTREZGENE
OMIM 604165 OMIM
PANTHER MITOCHONDRIAL DICARBOXYLATE CARRIER-RELATED UniProtKB/Swiss-Prot
Pfam Mito_carr UniProtKB/Swiss-Prot
PharmGKB PA35857 PharmGKB
PROSITE SOLCAR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot
UniProt F5GY65 ENTREZGENE
  I3L1P8 ENTREZGENE, UniProtKB/TrEMBL
  M2OM_HUMAN UniProtKB/Swiss-Prot
  O75537 ENTREZGENE
  Q02978 ENTREZGENE
  Q6IBH0 ENTREZGENE, UniProtKB/TrEMBL
  Q969P7 ENTREZGENE
UniProt Secondary F5GY65 UniProtKB/Swiss-Prot
  O75537 UniProtKB/Swiss-Prot
  Q969P7 UniProtKB/Swiss-Prot
1 to 32 of 32 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC25A11  solute carrier family 25 member 11    solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11  Symbol and/or name change 5135510 APPROVED