COX6A2 (cytochrome c oxidase subunit 6A2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 1339
Gene name Cytochrome c oxidase subunit 6A2
Gene symbol COX6A2
Synonyms (NCBI Gene)
COX6AHCOXVIAHCOXVIa-MMC4DN18
Chromosome 16
Chromosome location 16p11.2
Summary Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and
SNPs SNP information provided by dbSNP.
2
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SNP ID Visualize variation Clinical significance Consequence
rs1275864234 A>G Pathogenic Coding sequence variant, missense variant
rs1597176845 G>T Pathogenic Coding sequence variant, missense variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13 Show/Hide all (13)
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GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
602009 2279 ENSG00000156885
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02221
Protein name Cytochrome c oxidase subunit 6A2, mitochondrial (Cytochrome c oxidase polypeptide VIa-heart) (COXVIAH) (Cytochrome c oxidase subunit VIA-muscle) (COX VIa-M)
Protein function Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02046 COX6A 12 → 90 Cytochrome c oxidase subunit VIa Family
Tissue specificity TISSUE SPECIFICITY: Expressed specifically in heart and muscle (PubMed:31155743). Not detected in brain, colon, spleen, kidney, liver, lung and pancreas (PubMed:31155743). {ECO:0000269|PubMed:1327966, ECO:0000269|PubMed:31155743}.
Sequence 
MALPLRPLTRGLASAAKGGHGGAGARTWRLLTFVLALPSVALCTFNSYLHSGHRPRPEFR
PYQHLRIRTKPYPWGDGNHTLFHNSHVNPLPTGYEHP
Sequence length 97
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway
Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex IV deficiency, nuclear type 18 Likely pathogenic rs1597176845 RCV000790849
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
COX6A2-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE — GWAS catalog 31155743
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE — ClinGen, GWAS catalog 11788423, 23460811, 30030519, 31155743, 8241294
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES — Disgenet, ClinGen ClinGen report
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 34151536 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 37510369 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36153509 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency BEFREE 19843159, 31155743
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 35568702 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Isolated cytochrome C oxidase deficiency Isolated Cytochrome C Oxidase Deficiency Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Ventricular Remodeling Ventricular remodeling Pubtator 38072986 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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COX6B1 3 shared diseasesCytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 8 shared evidence sourcesGWAS catalog (Cytochrome c oxidase deficiency), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), GWAS catalog (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly GWAS catalog. COX5A 3 shared diseasesCytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 6 shared evidence sourcesGWAS catalog (Cytochrome c oxidase deficiency), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly GWAS catalog. COX4I1 3 shared diseasesCytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 8 shared evidence sourcesGWAS catalog (Cytochrome c oxidase deficiency), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), GWAS catalog (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly GWAS catalog. COX8A 3 shared diseasesCytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Cardiac muscle contraction, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 8 shared evidence sourcesGWAS catalog (Cytochrome c oxidase deficiency), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), GWAS catalog (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Cardiac muscle contraction — evidence mostly GWAS catalog. COX14 3 shared diseasesCytochrome c oxidase deficiency, Mitochondrial complex deficiency, Mitochondrial disease 1 shared pathwayThermogenesis 7 shared evidence sourcesGWAS catalog (Cytochrome c oxidase deficiency), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), GenCC (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 3 shared diseases including Cytochrome c oxidase deficiency, Mitochondrial complex deficiency — evidence mostly Disgenet.
Leigh syndrome Linked via 2 of 5 related genesCOX4I1, COX8A Alzheimer disease Linked via 1 of 5 related genesCOX5A Major depressive disorder Linked via 1 of 5 related genesCOX5A Myocardial infarction Linked via 1 of 5 related genesCOX5A Squamous cell carcinoma Linked via 1 of 5 related genesCOX5A