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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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COX6A2
cytochrome c oxidase subunit 6A2
Chromosome 16 · 16p11.2
NCBI Gene: 1339Ensembl: ENSG00000156885.7HGNC: HGNC:2279UniProt: Q02221
17PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionenzyme regulator activityrespiratory chain complex IVmitochondrial electron transport, cytochrome c to oxygenmitochondrial complex IV deficiency, nuclear type 18Isolated cytochrome C oxidase deficiencyAlzheimer diseaseParkinson disease
✦AI Summary

COX6A2 is a structural subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial electron transport chain that catalyzes oxygen reduction to water and drives oxidative phosphorylation 1. Located on chromosome 16, COX6A2 plays critical roles in Complex IV assembly and stabilization while maintaining energy homeostasis in tissues with high metabolic demands, particularly heart, skeletal muscle, and parvalbumin-positive fast-spiking interneurons 2. In parvalbumin interneurons, COX6A2 protects against oxidative stress and supports ATP generation necessary for high-frequency firing activity 2. COX6A2 deficiency impairs interneuron maturation, disrupts perineuronal nets, and associates with neurological abnormalities 2. In cardiomyocytes, COX6A2 knockout causes abnormal energy metabolism, elevated oxidative stress, calcium transport dysfunction, and reduced contractility 3. COX6A2 mutations cause mitochondrial complex IV deficiency with myopathic and potential neurological manifestations 4. Dysregulation also occurs in type 2 diabetes, where reduced FXR expression increases COX6A2 levels, promoting pancreatic β-cell apoptosis through VDAC1-mediated mitochondrial Bax translocation 5. In schizophrenia, oxidative stress-induced miR-137 upregulation decreases COX6A2 expression and impairs mitophagy, correlating with parvalbumin interneuron dysfunction 6. These findings establish COX6A2 as a metabolic regulator with disease relevance spanning mitochondrial myopathies, neuropsychiatric disorders, and metabolic disease.

Sources cited
1
COX6A2 gene location on chromosome 16p, structure, and role in cytochrome c oxidase
PMID: 9177785
2
COX6A2 protects parvalbumin interneurons from oxidative stress, supports ATP generation, and its deletion impairs interneuron maturation and function
PMID: 32744742
3
COX6A2 deficiency in cardiomyocytes causes abnormal energy metabolism, oxidative stress, calcium transport dysfunction, and reduced contractility
PMID: 38072986
4
COX6A2 is a structural subunit of Complex IV; mutations cause COX deficiency and human myopathies
PMID: 33418201
5
FXR-regulated COX6A2 promotes pancreatic β-cell apoptosis via VDAC1-mediated mitochondrial Bax translocation in type 2 diabetes
PMID: 39702527
6
miR-137-mediated COX6A2 downregulation impairs mitophagy and parvalbumin interneuron function in schizophrenia
PMID: 34686767
Disease Associationsⓘ21
mitochondrial complex IV deficiency, nuclear type 18Open Targets
0.70Strong
Isolated cytochrome C oxidase deficiencyOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.32Weak
Parkinson diseaseOpen Targets
0.32Weak
lysosomal storage diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.32Weak
mitochondrial diseaseOpen Targets
0.18Weak
GlycosuriaOpen Targets
0.14Weak
atrial fibrillationOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
autosomal erythropoietic protoporphyriaOpen Targets
0.01Suggestive
Norrie diseaseOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
psychosisOpen Targets
0.01Suggestive
Insulin resistanceOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
Mitochondrial complex IV deficiency, nuclear type 18UniProt
Pathogenic Variants1
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg)Likely pathogenic
Mitochondrial complex IV deficiency, nuclear type 18
★☆☆☆2020→ Residue 39
View on ClinVar ↗
Related Genes
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFAB1Protein interaction100%NDUFV2Protein interaction100%NDUFA9Protein interaction100%NDUFA5Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
1%
Lung
0%
Ovary
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
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COX6A2NDUFB5NDUFA13NDUFAB1NDUFV2NDUFA9NDUFA5
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q02221
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.39 [0.78–1.91]
RankingsWhere COX6A2 stands among ~20K protein-coding genes
  • #14,962of 20,598
    Most Researched17
  • #5,409of 5,498
    Most Pathogenic Variants1
  • #17,347of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedCOX6A2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
1.00
2
FXR-regulated COX6A2 triggers mitochondrial apoptosis of pancreatic β-cell in type 2 diabetes.
PMID: 39702527
Cell Death Dis · 2024
0.90
3
Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle.
PMID: 9177785
Genomics · 1997
0.80
4
Mitochondrial, exosomal miR137-COX6A2 and gamma synchrony as biomarkers of parvalbumin interneurons, psychopathology, and neurocognition in schizophrenia.
PMID: 34686767
Mol Psychiatry · 2022
0.70
5
COX6A2 deficiency leads to cardiac remodeling in human pluripotent stem cell-derived cardiomyocytes.
PMID: 38072986
Stem Cell Res Ther · 2023
0.60