Gene: COX7A2L

Alternate names for this Gene: COX7AR|COX7RP|EB1|SIG81

Gene Summary: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p21

Description of this Gene: cytochrome c oxidase subunit 7A2 like

Type of Gene: protein-coding

rs10202845 in COX7A2L gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs72798544 in COX7A2L gene and Cerebrovascular accident PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs72798544 in COX7A2L gene and Deep Vein Thrombosis PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs72798544 in COX7A2L gene and Ischemic stroke PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs72798544 in COX7A2L gene and Pulmonary Embolism PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

rs72798544 in COX7A2L gene and Venous Thromboembolism PMID 26908601 2016 Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.