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Gene : COX7A2 Homo sapiens

Name  ? cytochrome c oxidase subunit 7A2 Cytological Location  6q14.1
Brief Description  cytochrome c oxidase subunit 7A2
Description  Cytochrome c oxidase, 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 three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]
  • synonyms:
  • COX7AL,
  • COXVIIAL,
  • X15822,
  • COXVIIa-L,
  • cytochrome c oxidase subunit VIIa polypeptide 2 (liver),
  • HGNC:2288,
  • COX7AL,
  • OTTHUMG00000015049,
  • VIIAL,
  • COXVIIa-L,
  • uc063ppv.1,
  • COX7AL1,
  • NM_001865,
  • COX7A2
  • identifiers:
  • 1347,
  • ENSG00000112695,
  • COX7A2

Genome feature

Region: gene ? Length: 12624  
Location: 6:75237675-75250298 reverse strand Cyto location: 6q14.1


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Function

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

18 SN Ps

5 Cross References

14 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results