ATP5MC2
ATP Synthase Membrane Subunit C Locus 2
Gene Information Card
| Symbol | ATP5MC2 |
|---|---|
| Full Name | ATP synthase membrane subunit c locus 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 517 ncbi.nlm.nih.gov/gene/517 |
| Ensembl ID | ENSG00000135423 |
| UniProt ID | P48201 |
| OMIM ID | 603828 |
| HGNC ID | 835 |
| Aliases | ATP5G2, ATP5G2A, ATP5G2B |
Description
ATP5MC2 encodes a subunit of mitochondrial ATP synthase (complex V), specifically subunit c of the membrane-bound F0 sector. This subunit forms part of the proton channel and is essential for ATP production via oxidative phosphorylation. The gene is one of three human paralogs (ATP5MC1, ATP5MC2, ATP5MC3) that encode identical mature proteins but differ in their non-coding regions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex V deficiency, nuclear type | Loss-of-function mutations impair ATP synthesis, leading to multisystem disorders | ClinVar, OMIM |
| Leigh syndrome | Defective ATP synthase activity disrupts energy metabolism in the brain | ClinVar |
| Hearing loss, nonsyndromic | Variants in ATP5MC2 may contribute to sensorineural deafness | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal Muscle | 22.3 | High |
| Liver | 15.1 | Medium |
| Brain | 12.8 | Medium |
| Kidney | 11.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | High expression |
| HEK293 | 29.7 | High expression |
| K562 | 18.5 | Medium expression |
| HepG2 | 16.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Reduced ATP synthase activity |
| c.346C>T (p.Arg116Trp) | Missense | <0.01% | Impaired complex assembly |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants reduce or abolish ATP synthase activity, leading to mitochondrial dysfunction.
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)
| • mitochondrial proton-transporting ATP synthase complex | • proton-transporting ATP synthase activity |
| • rotational mechanism | • ATP synthesis coupled proton transport |
| • mitochondrial inner membrane |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Thermogenesis (KEGG: hsa04714)
• Parkinson disease (KEGG: hsa05012)
Protein Summary
ATP5MC2 encodes subunit c of mitochondrial ATP synthase, a key component of the F0 proton channel. The mature protein is 75 amino acids long and forms a hairpin-like structure that spans the inner mitochondrial membrane. It is essential for proton translocation and ATP generation. The protein is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATP5MC2 Knockout HEK293 Cell Line | EDJ-KQ50142 | Human | 517 | Details Get a Quote |
| ATP5MC2 Knockout HeLa Cell Line | EDJ-KQ52691 | Human | 517 | Details Get a Quote |
| ATP5MC2 Knockout A-549 Cell Line | EDJ-KQ61162 | Human | 517 | Details Get a Quote |
| ATP5MC2 Knockout HCT 116 Cell Line | EDJ-KQ69650 | Human | 517 | Details Get a Quote |
