COX6A2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
COX6A2
Official Name
cytochrome c oxidase subunit 6A2 [Source:HGNC Symbol;Acc:HGNC:2279]
Ensembl ID
ENSG00000156885
Bio databases IDs NCBI: 1339 Ensembl: ENSG00000156885
Aliases cytochrome c oxidase subunit 6A2
Synonyms COX6AH, COXVIAH, COXVIa-M, Cytochrome c oxidase, polypeptide VIB, cytochrome c oxidase subunit 6A2, MC4DN18, VIaH
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COX6A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cytochrome-c oxidase
  • Cyt_c_Oxidase_VIa
  • enzyme

Pathways

Biological processes and signaling networks where the COX6A2 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • insulin resistance
  • impaired glucose tolerance
  • nuclear type 18 mitochondrial complex IV deficiency
  • squamous-cell carcinoma
  • squamous cell cancer
  • hyperactive behavior
  • dermatomyositis
  • papilloma
  • papillomatosis
  • obesity
regulated by
  • MYB
  • TP53
  • lipopolysaccharide
  • ompenaclid
  • Immunoglobulin
  • beta-estradiol
  • D-glucose
  • CREB
  • STAR
  • RICTOR
regulates
role in cell
  • expression in
  • maturation
  • quantity
  • disruption in
  • disruption
  • damage in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COX6A2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • generation of precursor metabolites and energy
  • mitochondrial electron transport, cytochrome c to oxygen

Cellular Component

Where in the cell the gene product is active
  • mitochondrial respiratory chain complex IV

Molecular Function

What the gene product does at the molecular level
  • oxidoreductase activity
  • enzyme regulator activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.