Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
adult respiratory distress syndrome | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25070658 |
Imported Annotations - OMIM




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Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
adult respiratory distress syndrome | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25070658 |
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1. | GOA_HUMAN data from the GO Consortium |
2. | Pipeline to import SMPDB annotations from SMPDB into RGD |
3. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 1457818 8597574 8619474 8769314 9110174 9639574 10072597 12477932 12939596 15489334 16169070 16712791 16920706 17082780 17314511 19615732 19913121 20186120 20562859 20628086 20833797 20877624 21081666 21448454 21500544 21630459 21873635 22268729 22678362 22681889 22939629 22990118 23054077 23125841 23246001 23266187 23464991 23658844 23798571 24457600 25315684 25332235 25852190 25921289 25963833 26170170 26186194 26344197 26496610 26549023 26618866 26752685 26972000 27025967 27218139 27499296 27503909 27684187 28242297 28443643 28514442 28515276 28775156 28883622 28902428 29053956 29128334 29229926 29331416 29431636 29467282 29507755 29509190 29568061 29845934 29991511 30209976 30425250 30442662 30463901 30575818 30619736 30686754 |
SLC25A11 (Homo sapiens - human) |
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Slc25a11 (Mus musculus - house mouse) |
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Slc25a11 (Rattus norvegicus - Norway rat) |
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Slc25a11 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC25A11 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC25A11 (Canis lupus familiaris - dog) |
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Slc25a11 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC25A11 (Sus scrofa - pig) |
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STS-T79192 |
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SLC25A11_3257.2 |
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RH11767 |
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SHGC-31613 |
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MARC_2889-2890:991933627:9 |
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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. |
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 | |
CR456834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X66114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001165417 ⟹ NP_001158889 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
ACAGCGCCTTTCCTCTGGTTTCCAAATCAGTTACGCCCCTTCTCGCACGCTTCCATCAAGCTCChide sequence |
RefSeq Acc Id: | NM_001165418 ⟹ NP_001158890 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
ACAGCGCCTTTCCTCTGGTTTCCAAATCAGTTACGCCCCTTCTCGCACGCTTCCATCAAGCTCChide sequence |
RefSeq Acc Id: | NM_003562 ⟹ NP_003553 | |||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
ACAGCGCCTTTCCTCTGGTTTCCAAATCAGTTACGCCCCTTCTCGCACGCTTCCATCAAGCTCChide sequence |
RefSeq Acc Id: | XM_024450994 ⟹ XP_024306762 | |||||||||
RefSeq Status: | ||||||||||
Type: | CODING | |||||||||
Position: |
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Sequence: |
AACTTGGCGAGCCGTACTCACTCGATCTCGCGAGACCTTCAAACAAACTCTTCTCTATTTTCCChide sequence |
Protein RefSeqs | NP_001158889 | (Get FASTA) | NCBI Sequence Viewer |
NP_001158890 | (Get FASTA) | NCBI Sequence Viewer | |
NP_003553 | (Get FASTA) | NCBI Sequence Viewer | |
XP_024306762 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC28637 | (Get FASTA) | NCBI Sequence Viewer |
AAH06508 | (Get FASTA) | NCBI Sequence Viewer | |
AAH06519 | (Get FASTA) | NCBI Sequence Viewer | |
AAH16294 | (Get FASTA) | NCBI Sequence Viewer | |
AAH17170 | (Get FASTA) | NCBI Sequence Viewer | |
BAF83065 | (Get FASTA) | NCBI Sequence Viewer | |
CAA46905 | (Get FASTA) | NCBI Sequence Viewer | |
CAG33115 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90389 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90390 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90391 | (Get FASTA) | NCBI Sequence Viewer | |
EAW90392 | (Get FASTA) | NCBI Sequence Viewer | |
Q02978 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001158889 ⟸ NM_001165417 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q6IBH0 (UniProtKB/TrEMBL) |
- Sequence: |
MAATASAGAGGIDGKPRTSPKMGATVFVQPLDLVKNRMQLSGEGAKTREYKTSFHALTSILKAEhide sequence |
RefSeq Acc Id: | NP_001158890 ⟸ NM_001165418 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q6IBH0 (UniProtKB/TrEMBL) |
- Sequence: |
MAATASAGAGGIDGKPRTSPKSVKFLFGGLAGLSAGLLRQATYTTTRLGIYTVLFERLTGADGThide sequence |
RefSeq Acc Id: | NP_003553 ⟸ NM_003562 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q02978 (UniProtKB/Swiss-Prot), Q6IBH0 (UniProtKB/TrEMBL) |
- Sequence: |
MAATASAGAGGIDGKPRTSPKSVKFLFGGLAGMGATVFVQPLDLVKNRMQLSGEGAKTREYKTShide sequence |
RefSeq Acc Id: | XP_024306762 ⟸ XM_024450994 |
- Peptide Label: | isoform X1 |
- Sequence: |
MAATASAGAGGIDGKPRTSPKSVKFLFGGLAGMGATVFVQPLDLVKNRMQLSGEGAKTREYKTShide sequence |
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: |
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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: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 | copy number loss | Corpus callosum agenesis [RCV000053384]|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 | Global developmental delay [RCV000053406]|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 |
GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1 | copy number loss | See cases [RCV000141706] | Chr17:4915519..5197126 [GRCh38] Chr17:4818814..5100421 [GRCh37] Chr17:4759591..5041145 [NCBI36] Chr17:17p13.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 | copy number loss | See cases [RCV000141658] | Chr17:150732..5935377 [GRCh38] Chr17:525..5838697 [GRCh37] Chr17:525..5779421 [NCBI36] Chr17:17p13.3-13.2 |
pathogenic |
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 | copy number gain | See cases [RCV000142236] | Chr17:150732..14764202 [GRCh38] Chr17:525..14667519 [GRCh37] Chr17:525..14608244 [NCBI36] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:4762588-4844009)x3 | copy number gain | See cases [RCV000446549] | Chr17:4762588..4844009 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 | copy number loss | See cases [RCV000445994] | Chr17:1751557..5378509 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) | copy number gain | See cases [RCV000445679] | Chr17:1113102..6742486 [GRCh37] Chr17:17p13.3-13.1 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:4633847-4856516)x1 | copy number loss | See cases [RCV000510443] | Chr17:4633847..4856516 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 | copy number gain | See cases [RCV000511786] | Chr17:525..15027737 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 | copy number gain | not provided [RCV000683866] | Chr17:525..11186432 [GRCh37] Chr17:17p13.3-12 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3 | copy number gain | not provided [RCV000683882] | Chr17:4475016..4884701 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4633847-4926646)x3 | copy number gain | not provided [RCV000683883] | Chr17:4633847..4926646 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3 | copy number gain | not provided [RCV000683881] | Chr17:4036861..5174346 [GRCh37] Chr17:17p13.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 | copy number loss | not provided [RCV000739374] | Chr17:3336162..4918458 [GRCh37] Chr17:17p13.2 |
likely pathogenic |
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs) | deletion | PARAGANGLIOMAS 6 [RCV000785995] | Chr17:4939200..4939201 [GRCh38] Chr17:4842495..4842496 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val) | single nucleotide variant | PARAGANGLIOMAS 6 [RCV000785992] | Chr17:4938785 [GRCh38] Chr17:4842080 [GRCh37] Chr17:17p13.2 |
pathogenic |
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) | copy number gain | Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] | Chr17:47546..6287620 [GRCh37] Chr17:17p13.3-13.2 |
pathogenic |
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr) | single nucleotide variant | PARAGANGLIOMAS 6 [RCV000785991] | Chr17:4938176 [GRCh38] Chr17:4841471 [GRCh37] Chr17:17p13.2 |
pathogenic |
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=) | single nucleotide variant | PARAGANGLIOMAS 6 [RCV000785993] | Chr17:4938183 [GRCh38] Chr17:4841478 [GRCh37] Chr17:17p13.2 |
pathogenic |
NC_000017.10:g.(?_4802011)_(4850135_?)dup | duplication | Myasthenic syndrome, congenital, 4a, slow-channel [RCV000795439] | Chr17:4898716..4946840 [GRCh38] Chr17:4802011..4850135 [GRCh37] Chr17:17p13.2 |
uncertain significance |
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys) | single nucleotide variant | PARAGANGLIOMAS 6 [RCV000785994] | Chr17:4938803 [GRCh38] Chr17:4842098 [GRCh37] Chr17:17p13.2 |
pathogenic |
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 | copy number loss | not provided [RCV000849625] | Chr17:3759126..6128911 [GRCh37] Chr17:17p13.2 |
uncertain significance |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:10981 | AgrOrtholog |
COSMIC | SLC25A11 | COSMIC |
Ensembl Genes | ENSG00000108528 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000225665 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000440804 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000458993 | ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000225665 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000544061 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000576951 | ENTREZGENE, UniProtKB/TrEMBL | |
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 | 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 |
618464 | OMIM | |
Pfam | Mito_carr | UniProtKB/Swiss-Prot |
PharmGKB | PA35857 | PharmGKB |
PROSITE | SOLCAR | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF103506 | UniProtKB/Swiss-Prot |
UniGene | Hs.184877 | ENTREZGENE |
UniProt | I3L1P8_HUMAN | UniProtKB/TrEMBL |
M2OM_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
Q6IBH0 | ENTREZGENE, UniProtKB/TrEMBL | |
UniProt Secondary | F5GY65 | UniProtKB/Swiss-Prot |
O75537 | UniProtKB/Swiss-Prot | |
Q969P7 | UniProtKB/Swiss-Prot |
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 |
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More on SLC25A11 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 732504 |
Created: | 2004-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.