COX6A2
Cytochrome c oxidase subunit 6A2, a nuclear-encoded mitochondrial protein essential for complex IV function in oxidative phosphorylation.
Gene Information Card
| Symbol | COX6A2 |
|---|---|
| Full Name | Cytochrome c oxidase subunit 6A2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 1339 ncbi.nlm.nih.gov/gene/1339 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q02221 |
| OMIM ID | 602009 |
| HGNC ID | 2280 |
| Aliases | COX6A, COX6AH, cytochrome c oxidase polypeptide VIa-heart |
Description
COX6A2 encodes a nuclear-encoded subunit of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is specifically expressed in heart and skeletal muscle and is required for the assembly and regulation of the holoenzyme complex. Mutations in COX6A2 are associated with mitochondrial complex IV deficiency and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss-of-function mutations impair cytochrome c oxidase activity, reducing ATP production | ClinVar, OMIM |
| Cardiomyopathy, infantile hypertrophic | Defective oxidative phosphorylation in cardiac muscle due to COX6A2 mutations | OMIM #602009 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 42.3 | High |
| Skeletal muscle | 38.1 | High |
| Liver | 1.2 | Low |
| Brain | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 55.0 | High expression in heart-derived cells |
| Skeletal muscle myoblasts | 40.5 | High expression in muscle lineage |
| HepG2 | 1.5 | Low expression in liver cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.245G>A (p.Arg82Gln) | Missense | Rare | Reduced COX activity, associated with complex IV deficiency |
| c.424C>T (p.Arg142Trp) | Missense | Rare | Impaired subunit assembly, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg82Gln, p.Arg142Trp) reduce or abolish cytochrome c oxidase activity, leading to mitochondrial complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for COX6A2.
Dominant Negative (DN)
No dominant-negative mutations reported; COX6A2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity (GO:0004129) | • mitochondrial inner membrane (GO:0005743) |
| • integral component of membrane (GO:0016021) | • oxidative phosphorylation (GO:0006119) |
| • enzyme regulator activity (GO:0030234) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Electron transport chain (Reactome: R-HSA-611105)
• Respiratory electron transport
• ATP synthesis by chemiosmotic coupling (Reactome: R-HSA-163200)
Protein Summary
COX6A2 is a 16.7 kDa protein (167 amino acids) localized to the mitochondrial inner membrane. It is a structural subunit of cytochrome c oxidase complex IV, specifically expressed in heart and skeletal muscle. The protein contains a transmembrane domain and is essential for the stability and catalytic efficiency of the holoenzyme. Defects in COX6A2 lead to impaired mitochondrial respiration and tissue-specific energy deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX6A2 Knockout HEK293 Cell Line | EDJ-KQ4322 | Human | 1339 | Details Get a Quote |
| COX6A2 Knockout HeLa Cell Line | EDJ-KQ52962 | Human | 1339 | Details Get a Quote |
| COX6A2 Knockout A-549 Cell Line | EDJ-KQ61429 | Human | 1339 | Details Get a Quote |
| COX6A2 Knockout HCT 116 Cell Line | EDJ-KQ69926 | Human | 1339 | Details Get a Quote |
