COX6A2

Protein identityUniProt · HPA

UniProt accession

Q02221

Gene

COX6A2

Ensembl

ENSG00000156885

Chromosome

16

Canonical length

97 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

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 multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

97 residues, UniProt reviewed canonical sequence.

>Q02221|COX6A2
     1  MALPLRPLTR GLASAAKGGH GGAGARTWRL LTFVLALPSV ALCTFNSYLH SGHRPRPEFR
    61  PYQHLRIRTK PYPWGDGNHT LFHNSHVNPL PTGYEHP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COX6A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

6,326 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COX6A2.

Disease | AllUniProt

Conditions COX6A2 is implicated in, by any mechanism.

• Mitochondrial complex IV deficiency, nuclear type 18 (MC4DN18) MIM:619062

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 29 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex IV deficiency, nuclear type 18

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.58

gnomAD pLI

0.19

gnomAD missense Z

0.24

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• generation of precursor metabolites and energy
• mitochondrial electron transport, cytochrome c to oxygen

Molecular functions

• enzyme regulator activity
• oxidoreductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex IV

Protein domainsUniProt · Pfam · InterPro

• Cytochrome c oxidase, subunit VIa
• Cytochrome c oxidase, subunit VIa, conserved site
• Cytochrome c oxidase, subunit VIa superfamily
• Cytochrome c oxidase subunit VIa

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Oxidoreductase
• Primary mitochondrial disease
• Transit peptide
• Transmembrane
• Transmembrane helix