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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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COX7B
cytochrome c oxidase subunit 7B
Chromosome X · Xq21.1
NCBI Gene: 1349Ensembl: ENSG00000131174.8HGNC: HGNC:2291UniProt: P24311
27PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrial membraneprotein bindingcentral nervous system developmentmitochondrionMicrophthalmia with linear skin defects syndromeneurodegenerative diseaselinear skin defects with multiple congenital anomalieslysosomal storage disease
✦AI Summary

COX7B encodes a subunit of cytochrome c oxidase (complex IV), the terminal enzyme in the mitochondrial electron transport chain that catalyzes oxygen reduction to water during oxidative phosphorylation 1. The protein functions as part of the respiratory machinery that generates ATP through electron transfer from cytochrome c to molecular oxygen 1. COX7B plays important roles in cellular energy metabolism, with upregulation observed in highly proliferative cells where it promotes OXPHOS pathway activity and increases ROS production through glucose metabolism 2. In cardiac muscle, COX7B expression correlates positively with cardiomyocyte size and energy synthesis capacity, with compensatory upregulation in early-stage hypertrophic cardiomyopathy but downregulation in heart failure 1. The gene serves as a prognostic biomarker in multiple cancers, where low COX7B expression correlates with platinum chemotherapy resistance and poor patient outcomes 34. COX7B has also been identified as a sepsis-associated mitochondrial gene, with overexpression linked to poor 28-day survival rates 5. Additionally, altered COX7B expression has been associated with ADHD pathophysiology and can differentiate patients from healthy controls 6. These findings highlight COX7B's central role in mitochondrial bioenergetics and its potential as both a therapeutic target and diagnostic biomarker.

Sources cited
1
COX7B functions in cytochrome c oxidase complex IV and correlates with cardiomyocyte size and energy synthesis
PMID: 37979444
2
COX7B promotes OXPHOS pathway upregulation and increases ROS through glucose metabolism in proliferative cells
PMID: 38855186
3
Low COX7B expression correlates with platinum chemotherapy resistance and poor cancer patient outcomes
PMID: 30367559
4
COX7B serves as a prognostic biomarker in esophageal carcinoma with high expression associated with poor survival
PMID: 37273454
5
COX7B is overexpressed in sepsis and low expression correlates with better 28-day survival rates
PMID: 38702721
6
COX7B expression can differentiate ADHD patients from healthy controls
PMID: 38412785
Disease Associationsⓘ21
Microphthalmia with linear skin defects syndromeOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.56Moderate
linear skin defects with multiple congenital anomaliesOpen Targets
0.50Moderate
lysosomal storage diseaseOpen Targets
0.40Weak
Alzheimer diseaseOpen Targets
0.36Weak
Parkinson diseaseOpen Targets
0.36Weak
multiple sclerosisOpen Targets
0.36Weak
neuroinflammatory disorderOpen Targets
0.25Weak
genetic disorderOpen Targets
0.15Weak
SepsisOpen Targets
0.06Suggestive
cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
bacteriemiaOpen Targets
0.02Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.01Suggestive
microphthalmiaOpen Targets
0.01Suggestive
human african trypanosomiasisOpen Targets
0.01Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.01Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
familial hyperaldosteronismOpen Targets
0.01Suggestive
Linear skin defects with multiple congenital anomalies 2UniProt
Pathogenic Variants4
NM_001866.3(COX7B):c.40+5G>CLikely pathogenic
not provided
★☆☆☆2016
NM_001866.3(COX7B):c.196del (p.Leu66fs)Pathogenic
Linear skin defects with multiple congenital anomalies 2
☆☆☆☆2012→ Residue 66
NM_001866.3(COX7B):c.41-2A>GPathogenic
Linear skin defects with multiple congenital anomalies 2|Nonpapillary renal cell carcinoma
☆☆☆☆2012
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter)Pathogenic
Linear skin defects with multiple congenital anomalies 2
☆☆☆☆2012→ Residue 19
View on ClinVar ↗
Related Genes
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFB3Protein interaction100%NDUFAB1Protein interaction100%NDUFS1Protein interaction100%NDUFV2Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
35%
Brain
33%
Bone Marrow
32%
Lung
18%
Ovary
11%
Gene Interaction Network
Click a node to explore
COX7BNDUFB5NDUFA13NDUFB3NDUFAB1NDUFS1NDUFV2
PROTEIN STRUCTURE
Preparing viewer…
PDB5Z62 · 3.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.69Intermediate
Observed/Expected LoF0.25 [0.10–0.79]
RankingsWhere COX7B stands among ~20K protein-coding genes
  • #12,536of 20,598
    Most Researched27
  • #3,841of 5,498
    Most Pathogenic Variants4
  • #6,563of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCOX7B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Energy competition remodels the metabolic glucose landscape of psoriatic epidermal cells.
PMID: 38855186
Theranostics · 2024
1.00
2
Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63.
PMID: 30367559
Cancer Med · 2018
0.90
3
COX7B Is a New Prognostic Biomarker and Correlates with Tumor Immunity in Esophageal Carcinoma.
PMID: 37273454
Mediators Inflamm · 2023
0.80
4
Profiling cardiomyocytes at single cell resolution reveals COX7B could be a potential target for attenuating heart failure in cardiac hypertrophy.
PMID: 37979444
J Mol Cell Cardiol · 2024
0.70
5
Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-β/Smad signaling.
PMID: 37142077
Arch Biochem Biophys · 2023
0.60