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COX7A2 cytochrome c oxidase subunit 7A2 [ Homo sapiens (human) ]

Gene ID: 1347, updated on 5-Jan-2020

Summary

Official Symbol
COX7A2provided by HGNC
Official Full Name
cytochrome c oxidase subunit 7A2provided by HGNC
Primary source
HGNC:HGNC:2288
See related
Ensembl:ENSG00000112695 MIM:123996
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VIIAL; COX7AL; COX7AL1; COXVIIAL; COXVIIa-L
Summary
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]
Expression
Broad expression in testis (RPKM 131.2), colon (RPKM 111.8) and 25 other tissues See more
Orthologs

Genomic context

See COX7A2 in Genome Data Viewer
Location:
6q14.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (75237675..75250298, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (75947391..75953644, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene nucleoporin 50kDa pseudogene Neighboring gene collagen type XII alpha 1 chain Neighboring gene small nucleolar RNA, C/D box 156 Neighboring gene transmembrane protein 30A Neighboring gene TMEM30A divergent transcript Neighboring gene filamin A interacting protein 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC118950, MGC118951, MGC118952, MGC126875, MGC126877

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytochrome-c oxidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain supercomplex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of oxidative phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
mitochondrial respiratory chain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome c oxidase subunit 7A2, mitochondrial
Names
cytochrome c oxidase polypeptide 7A2, mitochondrial
cytochrome c oxidase polypeptide VIIa-liver/heart
cytochrome c oxidase subunit VIIa polypeptide 2 (liver)
cytochrome c oxidase subunit VIIa-L
cytochrome c oxidase subunit VIIa-liver/heart
cytochrome c oxidase subunit VIIaL
hepatic cytochrome-c oxidase chain VIIa
NP_001353221.1
NP_001353222.1
NP_001856.2
XP_024302098.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001366292.1NP_001353221.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AL080250
    Related
    ENSP00000359098.2, ENST00000370081.6
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  2. NM_001366293.1NP_001353222.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform b

    Status: REVIEWED

    Source sequence(s)
    AL080250
    Related
    ENSP00000425951.1, ENST00000509698.5
    Conserved Domains (1) summary
    cd00928
    Location:2478
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  3. NM_001865.4NP_001856.2  cytochrome c oxidase subunit 7A2, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001856.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AL080250
    Consensus CDS
    CCDS34486.2
    UniProtKB/Swiss-Prot
    P14406
    UniProtKB/TrEMBL
    H0UI06
    Related
    ENSP00000359106.2, ENST00000370089.6
    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

RNA

  1. NR_029466.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL080250
  2. NR_158783.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL080250
  3. NR_158784.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL080250

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    75237675..75250298 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446330.1XP_024302098.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    Conserved Domains (1) summary
    cd00928
    Location:56110
    Cyt_c_Oxidase_VIIa; Cytochrome c oxidase subunit VIIa. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
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