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

Gene ID: 1347, updated on 27-Nov-2024

Summary

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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; AllianceGenome:HGNC:2288
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
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Genomic context

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See COX7A2 in Genome Data Viewer
Location:
6q14.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (75237675..75250298, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (76414841..76427128, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (75947391..75960014, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6905 Neighboring gene NUP50 pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94546 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_94572 Neighboring gene NANOG hESC enhancer GRCh37_chr6:75674378-75674954 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:75794417-75794939 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:75828643-75829842 Neighboring gene collagen type XII alpha 1 chain Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24756 Neighboring gene small nucleolar RNA, C/D box 156 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:75918738-75918943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24758 Neighboring gene uncharacterized LOC124901344 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:75981645-75982844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:75994172-75994744 Neighboring gene transmembrane protein 30A Neighboring gene TMEM30A divergent transcript Neighboring gene filamin A interacting protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies. Van Beeumen JJ, et al. FEBS Lett, 1990 Apr 24. PMID 2159420
  2. Isolation and sequence of the human cytochrome c oxidase subunit VIIaL gene. Hüttemann M, et al. Biochim Biophys Acta, 2000 Jun 21. PMID 11004498
  3. Overexpression of COX7A2 is associated with a good prognosis in patients with glioma. Deng S, et al. J Neurooncol, 2018 Jan. PMID 29079956
  4. Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase. Fabrizi GM, et al. Nucleic Acids Res, 1989 Sep 12. PMID 2550906, Free PMC Article
  5. Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene. Merante F, et al. Genome, 1997 Jun. PMID 9202412

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Overexpression of COX7A2 is associated with a good prognosis in patients with glioma. Results suggest that COX7A2 could be served as a valuable prognostic marker of glioma.
    Title: Overexpression of COX7A2 is associated with a good prognosis in patients with glioma.
  2. COX7A2, TAGLN2 and S100-A10 as novel prognostic markers in Barrett's adenocarcinoma.
    Title: MALDI imaging mass spectrometry reveals COX7A2, TAGLN2 and S100-A10 as novel prognostic markers in Barrett's adenocarcinoma.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC118950, MGC118951, MGC118952, MGC126875, MGC126877

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial electron transport, cytochrome c to oxygen NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial respirasome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of oxidative phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
part_of respiratory chain complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of respiratory chain complex IV IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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_001353221.2
NP_001353222.1
NP_001856.3
XP_024302098.1
XP_047274146.1
XP_047274147.1
XP_054210226.1
XP_054210227.1
XP_054210228.1

NCBI Reference Sequences (RefSeq)

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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_001366292.3 → NP_001353221.2  cytochrome c oxidase subunit 7A2, mitochondrial

    Status: REVIEWED

    Source sequence(s)
    AL080250
    Consensus CDS
    CCDS34486.3
    UniProtKB/Swiss-Prot
    B2R5E1, P14406, Q3MIH5, Q5TF59, Q6FGI2
    UniProtKB/TrEMBL
    Q496I0
    Conserved Domains (1) summary
    cd00928
    Location:24 → 78
    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_001366293.2 → NP_001353222.1  cytochrome c oxidase subunit 7A2, mitochondrial

    Status: REVIEWED

    Source sequence(s)
    AL080250
    Consensus CDS
    CCDS34486.3
    UniProtKB/Swiss-Prot
    B2R5E1, P14406, Q3MIH5, Q5TF59, Q6FGI2
    UniProtKB/TrEMBL
    Q496I0
    Related
    ENSP00000506727.1, ENST00000684430.2
    Conserved Domains (1) summary
    cd00928
    Location:24 → 78
    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_001865.6 → NP_001856.3  cytochrome c oxidase subunit 7A2, mitochondrial

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AL080250
    Consensus CDS
    CCDS34486.3
    UniProtKB/Swiss-Prot
    B2R5E1, P14406, Q3MIH5, Q5TF59, Q6FGI2
    UniProtKB/TrEMBL
    Q496I0
    Conserved Domains (1) summary
    cd00928
    Location:24 → 78
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047418190.1 → XP_047274146.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0UI06

  2. XM_024446330.2 → XP_024302098.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0UI06
    Conserved Domains (1) summary
    cd00928
    Location:56 → 110
    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. XM_047418191.1 → XP_047274147.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0UI06
    Related
    ENSP00000359106.2, ENST00000370089.6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    76414841..76427128 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354252.1 → XP_054210227.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0UI06

  2. XM_054354251.1 → XP_054210226.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0UI06

  3. XM_054354253.1 → XP_054210228.1  cytochrome c oxidase subunit 7A2, mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0UI06
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14406.1 GenPept UniProtKB/Swiss-Prot:P14406

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