SLC25A11
Mitochondrial 2-oxoglutarate/malate carrier protein
Gene Information Card
| Symbol | SLC25A11 |
|---|---|
| Full Name | Solute carrier family 25 member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 8402 ncbi.nlm.nih.gov/gene/8402 |
| Ensembl ID | ENSG00000108528 |
| UniProt ID | Q02978 |
| OMIM ID | 604165 |
| HGNC ID | 10981 |
| Aliases | OGC, SLC20A4 |
Description
SLC25A11 encodes the mitochondrial 2-oxoglutarate/malate carrier (OGC), a member of the SLC25 mitochondrial carrier family. This protein transports 2-oxoglutarate across the inner mitochondrial membrane in exchange for malate or other dicarboxylates, playing a key role in the malate-aspartate shuttle, the tricarboxylic acid cycle, and gluconeogenesis. Mutations in SLC25A11 are associated with hereditary paraganglioma-pheochromocytoma syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary paraganglioma-pheochromocytoma | Loss-of-function mutations impair mitochondrial 2-oxoglutarate transport, leading to pseudohypoxia and tumorigenesis | PMID: 29590070, ClinVar |
| Paraganglioma 5 (PGL5) | Germline missense and splice-site variants cause autosomal dominant predisposition | OMIM #618464 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Heart | 9.2 | Medium |
| Brain | 7.1 | Low |
| Skeletal muscle | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 11.5 | Embryonic kidney cells |
| K-562 | 8.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.597C>G (p.Tyr199*) | Nonsense | <0.01% | Loss of function |
| c.650G>A (p.Arg217His) | Missense | <0.01% | Loss of function |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported pathogenic variants result in loss of 2-oxoglutarate transport activity, leading to metabolic dysregulation and tumor predisposition.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not established; haploinsufficiency is the proposed mechanism.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Malate-aspartate shuttle (Reactome: R-HSA-70263)
• Citric acid cycle (TCA cycle) (KEGG: hsa00020)
• Gluconeogenesis (KEGG: hsa00010)
Protein Summary
The SLC25A11 protein (OGC) is a 314-amino acid transmembrane carrier located in the mitochondrial inner membrane. It functions as a homodimer and catalyzes the electroneutral exchange of 2-oxoglutarate for malate. This activity is essential for the malate-aspartate shuttle, which transfers reducing equivalents from the cytosol into mitochondria, and for anaplerotic reactions in the TCA cycle. Defects in this protein lead to impaired oxidative metabolism and are linked to hereditary paraganglioma.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A11 Knockout HEK293 Cell Line | EDJ-KQ50788 | Human | 8402 | Details Get a Quote |
| SLC25A11 Knockout HeLa Cell Line | EDJ-KQ54899 | Human | 8402 | Details Get a Quote |
| SLC25A11 Knockout A-549 Cell Line | EDJ-KQ63387 | Human | 8402 | Details Get a Quote |
| SLC25A11 Knockout HCT 116 Cell Line | EDJ-KQ71855 | Human | 8402 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
