COX7B2
Cytochrome c oxidase subunit 7B2, a mitochondrial respiratory chain component
Gene Information Card
| Symbol | COX7B2 |
|---|---|
| Full Name | cytochrome c oxidase subunit 7B2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p13 |
| NCBI Gene ID | 170712 ncbi.nlm.nih.gov/gene/170712 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q8TF62 |
| OMIM ID | 620849 |
| HGNC ID | 16238 |
| Aliases | COX7B, COX7B2, cytochrome c oxidase subunit VIIb2 |
Description
COX7B2 encodes a subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain. This nuclear-encoded protein is essential for the assembly and function of the holoenzyme, facilitating the transfer of electrons from cytochrome c to molecular oxygen and contributing to proton pumping across the inner mitochondrial membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss-of-function mutations impair respiratory chain activity, leading to energy depletion | ClinVar, OMIM |
| Leigh syndrome | Deficiency in complex IV subunits can cause neurodegenerative phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 8.1 | Medium |
| Kidney | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | High expression |
| HeLa | 11.5 | Medium expression |
| K562 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52Ter) | Nonsense | Rare | Loss of function, predicted to cause complex IV deficiency |
| c.200_201del (p.Glu67GlyfsTer12) | Frameshift | Rare | Loss of function, associated with mitochondrial disease |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants lead to truncated or absent protein, impairing complex IV assembly and activity.
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)
| • cytochrome-c oxidase activity | • mitochondrial inner membrane |
| • electron transport chain | • respiratory chain complex IV |
Pathways
• Oxidative phosphorylation
• Electron transport chain (Complex IV)
Protein Summary
COX7B2 is a small, nuclear-encoded subunit of cytochrome c oxidase. It localizes to the mitochondrial inner membrane and is required for the structural integrity and catalytic efficiency of Complex IV. The protein contains a transmembrane domain and interacts with other COX subunits to stabilize the holoenzyme.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX7B2 Knockout HEK293 Cell Line | EDJ-KQ12984 | Human | 170712 | Details Get a Quote |
| COX7B2 Knockout HeLa Cell Line | EDJ-KQ58947 | Human | 170712 | Details Get a Quote |
| COX7B2 Knockout A-549 Cell Line | EDJ-KQ67435 | Human | 170712 | Details Get a Quote |
| COX7B2 Knockout HCT 116 Cell Line | EDJ-KQ75830 | Human | 170712 | Details Get a Quote |
