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

    Gene ID: 1347, updated on 10-Dec-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
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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