• Gene id: 1339

Gene Summary

• Gene Symbol: COX6A2   Gene   UCSC   Ensembl
• Aliases: COX6AH, COXVIAH
• Gene name: cytochrome c oxidase subunit 6A2
• Alternate names: cytochrome c oxidase subunit 6A2, mitochondrial, COX VIa-M, cytochrome c oxidase polypeptide VIa-heart, cytochrome c oxidase subunit VIA-muscle, cytochrome c oxidase subunit VIa polypeptide 2,
• Gene location: 16p11.2 (31428359: 31427730)     Exons: 3     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 617896

Protein Summary

• Protein general information: Q02221  
  • Name: Cytochrome c oxidase subunit 6A2, mitochondrial (Cytochrome c oxidase polypeptide VIa heart) (COXVIAH) (Cytochrome c oxidase subunit VIA muscle) (COX VIa M)
  • Length: 97  
  • Mass: 10815
  • Tissue specificity: Expressed specifically in heart and muscle. {ECO
• Sequence:

  MALPLRPLTRGLASAAKGGHGGAGARTWRLLTFVLALPSVALCTFNSYLHSGHRPRPEFRPYQHLRIRTKPYPWG
  DGNHTLFHNSHVNPLPTGYEHP

• Structural information:
  • Interpro: IPR001349  IPR018507  IPR036418  
  • Prosite: PS01329
  • CDD: cd00925
  • STRING: ENSP00000287490
• Other Databases: GeneCards:  COX6A2  Malacards:  COX6A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005751	mitochondrial respiratory chain complex IV	IBA	cellular component
GO:0009060	aerobic respiration	IBA	biological process
GO:0030234	enzyme regulator activity	IBA	molecular function
GO:0004129	cytochrome-c oxidase activity	IBA	contributes to
GO:0006123	mitochondrial electron transport, cytochrome c to oxygen	IBA	biological process
GO:0005751	mitochondrial respiratory chain complex IV	IEA	cellular component
GO:0004129	cytochrome-c oxidase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0006119	oxidative phosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease
hsa04260	Cardiac muscle contraction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881