Gene Gene information from NCBI Gene database.
Entrez ID 8402
Gene name Solute carrier family 25 member 11
Gene symbol SLC25A11
Synonyms (NCBI Gene)
OGCPGL6PPGL6SLC20A4
Chromosome 17
Chromosome location 17p13.2
Summary The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT612487 hsa-miR-548ae-3p HITS-CLIP 23824327
MIRT612486 hsa-miR-548ah-3p HITS-CLIP 23824327
MIRT612485 hsa-miR-548aj-3p HITS-CLIP 23824327
MIRT612484 hsa-miR-548am-3p HITS-CLIP 23824327
MIRT612483 hsa-miR-548aq-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 32814053, 37009826
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604165 10981 ENSG00000108528
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02978
Protein name Mitochondrial 2-oxoglutarate/malate carrier protein (OGCP) (alpha-oxoglutarate carrier) (Solute carrier family 25 member 11) (SLC25A11)
Protein function Catalyzes the transport of 2-oxoglutarate (alpha-oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate. Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00153 Mito_carr 18 112 Mitochondrial carrier protein Family
PF00153 Mito_carr 115 213 Mitochondrial carrier protein Family
PF00153 Mito_carr 216 311 Mitochondrial carrier protein Family
Tissue specificity TISSUE SPECIFICITY: Most highly expressed in the heart. {ECO:0000269|PubMed:21448454}.
Sequence
Sequence length 314
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Gluconeogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pheochromocytoma/paraganglioma syndrome 6 Pathogenic rs1567650859, rs1203876038, rs1567650874, rs1567651815, rs1374026152 RCV000785991
RCV000785992
RCV000785993
RCV000785994
RCV000785995
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLC25A11-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma HPO_DG
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia HPO_DG
★☆☆☆☆
Found in Text Mining only
Capillary hemangioma of retina Capillary Hemangioma Of Retina HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32555317 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 37009826 Associate
★☆☆☆☆
Found in Text Mining only
Conductive hearing loss Hearing Loss HPO_DG
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure HPO_DG
★☆☆☆☆
Found in Text Mining only
Cranial nerve compression Cranial nerve compression HPO_DG
★☆☆☆☆
Found in Text Mining only
Episodic paroxysmal anxiety Episodic paroxysmal anxiety HPO_DG
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis Glomerulonephritis HPO_DG
★☆☆☆☆
Found in Text Mining only