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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COX7B2
cytochrome c oxidase subunit 7B2
Chromosome 4 · 4p12
NCBI Gene: 170712Ensembl: ENSG00000170516.17HGNC: HGNC:24381UniProt: Q8TF08
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionrespiratory chain complex IVoxidative phosphorylationmitochondrial electron transport, cytochrome c to oxygenSjogren syndromeAlzheimer diseaseankylosing spondylitiscervical carcinoma
✦AI Summary

COX7B2 encodes cytochrome c oxidase subunit 7B2, a structural component of Complex IV (cytochrome c oxidase) in the mitochondrial electron transport chain. As part of this final respiratory complex, COX7B2 participates in transferring electrons from cytochrome c to molecular oxygen, catalyzing oxygen reduction to water and generating the proton gradient essential for ATP synthesis and oxidative phosphorylation. Mechanistically, COX7B2 functions within the larger Complex IV assembly that accepts electrons via the copper A center and heme A, ultimately delivering them to the binuclear active site containing heme A3 and copper B for oxygen reduction. The protein's functional importance is underscored by evolutionary conservation of key residues, particularly histidine at codon 26 1. COX7B2 demonstrates relevance across multiple disease contexts. A rare His26Gln polymorphism was identified in nasopharyngeal carcinoma families, suggesting potential genetic susceptibility associations 1. COX7B2 appears in metabolism-related prognostic signatures for hepatocellular carcinoma outcome prediction 2 and among Complex IV structural genes with pathogenic potential in breast cancer 3. Downregulation of COX7B2 was identified as a hub gene in non-obstructive azoospermia associated with mitochondrial dysfunction 4. Additionally, SNPs near COX7B2 showed replication in type 2 diabetes susceptibility studies 5. CRISPR-based knockout studies confirmed Cox7b2 is essential for normal spermatozoa production and male fertility in mice 6.

Sources cited
1
Identified rare COX7B2 polymorphism His26Gln associated with nasopharyngeal carcinoma susceptibility; showed codon 26 is conserved across species
PMID: 15623157
2
COX7B2 identified as one of six metabolism-related genes in prognostic signature for hepatocellular carcinoma outcomes
PMID: 33758763
3
COX7B2 identified among Complex IV structural genes with potential impact on breast cancer
PMID: 37510369
4
COX7B2 identified as downregulated hub gene in non-obstructive azoospermia associated with mitochondrial dysfunction
PMID: 41639206
5
SNPs at COX7B2/GABRA4 region showed replication in type 2 diabetes susceptibility studies in Arab populations
PMID: 23937595
6
Cox7b2 knockout mice produced poorly motile infertile spermatozoa, demonstrating its essential role in male germ cell development
PMID: 34326397
Disease Associationsⓘ20
Sjogren syndromeOpen Targets
0.34Weak
Alzheimer diseaseOpen Targets
0.31Weak
ankylosing spondylitisOpen Targets
0.30Weak
cervical carcinomaOpen Targets
0.27Weak
substance-related disorderOpen Targets
0.23Weak
disorder of earOpen Targets
0.19Weak
azoospermiaOpen Targets
0.11Weak
substance abuseOpen Targets
0.10Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 82Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UQCR10Protein interaction100%UQCR11Protein interaction100%UQCRHProtein interaction100%UQCRFS1Protein interaction100%COX5BProtein interaction100%UQCRC2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
50%
Lung
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
COX7B2UQCR10UQCR11UQCRHUQCRFS1COX5BUQCRC2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TF08
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.12Tolerant
Observed/Expected LoF0.71 [0.28–1.77]
RankingsWhere COX7B2 stands among ~20K protein-coding genes
  • #16,716of 20,598
    Most Researched11
  • #16,430of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedCOX7B2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
A Novel Metabolism-Related Signature as a Candidate Prognostic Biomarker for Hepatocellular Carcinoma.
PMID: 33758763
J Hepatocell Carcinoma · 2021
1.00
2
A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma.
PMID: 15623157
Sci China C Life Sci · 2004
0.83
3
Mutations in Structural Genes of the Mitochondrial Complex IV May Influence Breast Cancer.
PMID: 37510369
Genes (Basel) · 2023
0.67
4
Integrative bioinformatics analyses of mitochondrial dysfunction-related genes in human non-obstructive azoospermia.
PMID: 41639206
Sci Rep · 2026
0.50
5
A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.
PMID: 23937595
Ann Hum Genet · 2013
0.33