COX7A2 (Cytochrome c Oxidase Subunit 7A2)
Nuclear-encoded subunit of mitochondrial Complex IV, essential for oxidative phosphorylation and cellular energy production.
Gene Information Card
| Symbol | COX7A2 |
|---|---|
| Full Name | Cytochrome c oxidase subunit 7A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 1347 ncbi.nlm.nih.gov/gene/1347 |
| Ensembl ID | ENSG00000112695 |
| UniProt ID | P14406 |
| OMIM ID | 123995 |
| HGNC ID | 2287 |
| Aliases | COX7A, COX7AH, cytochrome c oxidase subunit VIIa polypeptide 2 (liver) |
Description
COX7A2 encodes a nuclear-encoded subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is one of the tissue-specific isoforms (liver-type) and is involved in the assembly and regulation of the holoenzyme complex. COX7A2 is ubiquitously expressed but shows higher levels in tissues with high oxidative metabolism. Mutations or dysregulation of COX7A2 can impair mitochondrial respiration, contributing to various pathologies including mitochondrial disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial Complex IV Deficiency | Biallelic pathogenic variants in COX7A2 may lead to reduced Complex IV activity, impairing oxidative phosphorylation and ATP production. | ClinVar and literature reports (e.g., OMIM) indicate association with mitochondrial respiratory chain defects. |
| Hepatocellular Carcinoma | Altered COX7A2 expression may affect mitochondrial metabolism and apoptosis, promoting tumor progression. | Expression studies (e.g., COSMIC) show differential expression in liver cancer tissues. |
| Colorectal Cancer | Downregulation of COX7A2 may contribute to the Warburg effect and metabolic reprogramming in cancer cells. | COSMIC mutation data and expression profiling suggest involvement in colorectal tumors. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Skeletal Muscle | 10.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 18.4 | High expression |
| HeLa (cervical) | 12.1 | Moderate |
| A549 (lung) | 9.8 | Low |
| MCF7 (breast) | 7.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52Ter) | Nonsense | Rare (<0.01%) | Premature stop codon, likely loss-of-function |
| c.239G>A (p.Arg80His) | Missense | 0.02% (gnomAD) | May affect protein stability or assembly |
| c.301A>G (p.Ile101Val) | Missense | 0.05% | Possibly benign, but may alter function in certain contexts |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, resulting in reduced Complex IV activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations; COX7A2 is not known to have oncogenic gain-of-function variants.
Dominant Negative (DN)
No dominant-negative effects reported; COX7A2 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity | • mitochondrial electron transport |
| • cytochrome c to oxygen | • integral component of mitochondrial inner membrane |
| • metal ion binding | • cellular respiration |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Metabolic pathways (KEGG: hsa01100)
• Thermogenesis (KEGG: hsa04714)
Protein Summary
COX7A2 is a 7.5 kDa protein (99 amino acids) localized to the mitochondrial inner membrane. It is a subunit of cytochrome c oxidase, where it contributes to the structural stability and regulation of the enzyme complex. The protein contains a transmembrane domain and is involved in the assembly of the holoenzyme. Tissue-specific isoforms (liver vs. heart/muscle) are encoded by different genes (COX7A2 vs. COX7A1).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX7A2 Knockout HEK293 Cell Line | EDJ-KQ4323 | Human | 1347 | Details Get a Quote |
| COX7A2L Knockout HEK293 Cell Line | EDJ-KQ5824 | Human | 9167 | Details Get a Quote |
| COX7A2 Knockout A-549 Cell Line | EDJ-KQ26813 | Human | 1347 | Details Get a Quote |
| COX7A2 Knockout HCT 116 Cell Line | EDJ-KQ26814 | Human | 1347 | Details Get a Quote |
| COX7A2 Knockout HeLa Cell Line | EDJ-KQ26815 | Human | 1347 | Details Get a Quote |
| COX7A2L Knockout A-549 Cell Line | EDJ-KQ30603 | Human | 9167 | Details Get a Quote |
| COX7A2L Knockout HCT 116 Cell Line | EDJ-KQ30605 | Human | 9167 | Details Get a Quote |
| COX7A2L Knockout HeLa Cell Line | EDJ-KQ30606 | Human | 9167 | Details Get a Quote |
