MPC2 Gene - Mitochondrial Pyruvate Carrier 2
Essential subunit of the mitochondrial pyruvate carrier complex involved in cellular metabolism and energy homeostasis.
Gene Information Card
| Symbol | MPC2 |
|---|---|
| Full Name | Mitochondrial Pyruvate Carrier 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 25874 ncbi.nlm.nih.gov/gene/25874 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | O95563 |
| OMIM ID | 614738 |
| HGNC ID | 28966 |
| Aliases | SLC54A1, BRP44L, dJ68L15.3 |
Description
MPC2 encodes a subunit of the mitochondrial pyruvate carrier (MPC), a heterodimeric complex that transports pyruvate from the cytosol into the mitochondrial matrix. This transport is a critical step in glucose metabolism, linking glycolysis to the tricarboxylic acid (TCA) cycle. MPC2 is essential for pyruvate uptake and metabolic regulation in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyruvate carboxylase deficiency (secondary) | Impaired mitochondrial pyruvate import due to MPC2 dysfunction leads to reduced TCA cycle flux and energy deficit. | ClinVar, OMIM |
| Metabolic syndrome (associated) | Altered MPC2 expression may contribute to insulin resistance and lipid accumulation. | NCBI Gene, PubMed |
| Cancer (various types) | MPC2 downregulation in certain cancers promotes Warburg effect and tumor growth. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Skeletal Muscle | 7.2 | Medium |
| Kidney | 11.3 | Medium |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| K-562 | 8.5 | Chronic myelogenous leukemia cell line |
| HeLa | 10.1 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.194G>A (p.Arg65His) | Missense | <0.01% | Unknown significance |
| c.340C>T (p.Arg114*) | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations are predicted to cause loss of MPC2 function, impairing pyruvate transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005739 (mitochondrion) | • GO:0016021 (integral component of membrane) |
| • GO:0005488 (binding) | • GO:0015297 (antiporter activity) |
| • GO:0006850 (mitochondrial pyruvate transport) | • GO:0006090 (pyruvate metabolic process) |
Pathways
• Mitochondrial pyruvate transport (Reactome: R-HSA-8949215)
• Pyruvate metabolism and TCA cycle (KEGG: map00020)
Protein Summary
MPC2 is a 127-amino acid transmembrane protein that forms a heterodimer with MPC1 to constitute the mitochondrial pyruvate carrier. It is localized to the inner mitochondrial membrane and facilitates the import of pyruvate, a key substrate for oxidative metabolism. The protein is widely expressed, with highest levels in liver and kidney. Mutations in MPC2 are rare but can lead to metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MPC2 Knockout HEK293 Cell Line | EDJ-KQ51147 | Human | 25874 | Details Get a Quote |
| MPC2 Knockout HeLa Cell Line | EDJ-KQ55839 | Human | 25874 | Details Get a Quote |
| MPC2 Knockout A-549 Cell Line | EDJ-KQ64329 | Human | 25874 | Details Get a Quote |
| MPC2 Knockout HCT 116 Cell Line | EDJ-KQ72782 | Human | 25874 | Details Get a Quote |
| MPC2 Knockout Huh-7 Cell Line | EDC08244 | Human | 25874 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
