COX6B2
Cytochrome c oxidase subunit 6B2
Gene Information Card
| Symbol | COX6B2 |
|---|---|
| Full Name | cytochrome c oxidase subunit 6B2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 125965 ncbi.nlm.nih.gov/gene/125965 |
| Ensembl ID | ENSG00000160469 |
| UniProt ID | Q6YFQ2 |
| OMIM ID | 612392 |
| HGNC ID | 22950 |
| Aliases | COX6B, COXG, cytochrome c oxidase subunit VIb2 |
Description
COX6B2 encodes a subunit of cytochrome c oxidase (complex IV), the terminal enzyme of the mitochondrial electron transport chain. This subunit is specifically expressed in testis and is involved in the assembly and regulation of complex IV activity, contributing to oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss of COX6B2 function impairs complex IV assembly, reducing ATP production | ClinVar: pathogenic variants reported |
| Male infertility | Testis-specific expression suggests role in sperm motility; deficiency linked to reduced oxidative capacity | OMIM: 612392; limited case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 15.2 | Testis-derived |
| Sertoli cells | 8.7 | Testis-derived |
| HEK293 | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced complex IV activity in vitro |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg34Trp) impair complex IV assembly and activity
Gain of Function (GOF)
None reported
Dominant Negative (DN)
Not described
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity | • mitochondrial electron transport |
| • cytochrome c to oxygen | • mitochondrial inner membrane |
| • protein-containing complex assembly |
Pathways
• Oxidative phosphorylation (Reactome: R-HSA-611105)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COX6B2 is a 86-amino acid protein localized to the mitochondrial inner membrane. It is a structural subunit of cytochrome c oxidase, essential for complex IV stability and electron transfer. Testis-specific expression suggests a specialized role in sperm energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX6B2 Knockout HEK293 Cell Line | EDJ-KQ8840 | Human | 125965 | Details Get a Quote |
| COX6B2 Knockout HCT 116 Cell Line | EDJ-KQ35147 | Human | 125965 | Details Get a Quote |
| COX6B2 Knockout HeLa Cell Line | EDJ-KQ33904 | Human | 125965 | Details Get a Quote |
| COX6B2 Knockout A-549 Cell Line | EDJ-KQ66643 | Human | 125965 | Details Get a Quote |
