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    COX7B2 cytochrome c oxidase subunit 7B2 [ Homo sapiens (human) ]

    Gene ID: 170712, updated on 3-Apr-2024

    Summary

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    Official Symbol
    COX7B2provided by HGNC
    Official Full Name
    cytochrome c oxidase subunit 7B2provided by HGNC
    Primary source
    HGNC:HGNC:24381
    See related
    Ensembl:ENSG00000170516 MIM:609811; AllianceGenome:HGNC:24381
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable cytochrome-c oxidase activity. Predicted to be involved in electron transport chain; oxidative phosphorylation; and proton transmembrane transport. Predicted to be located in mitochondrial respirasome. Predicted to be integral component of membrane. Predicted to be part of respiratory chain complex IV. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 15.1) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4p12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46734827..46909245, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46701990..46876576, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46736844..46911262, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 412, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr4:46687601-46687815 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:46725989-46726490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:46726491-46726990 Neighboring gene Rac family small GTPase 1 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:46889421-46889608 Neighboring gene Sharpr-MPRA regulatory region 10756 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha4 Neighboring gene Sharpr-MPRA regulatory region 8016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21529 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta1 Neighboring gene small nucleolar RNA U13

    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. A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma. Liang H, et al. Sci China C Life Sci, 2004 Oct. PMID 15623157
    2. A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family. Al Safar HS, et al. Ann Hum Genet, 2013 Nov. PMID 23937595
    3. HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. Lecoeur H, et al. Cell Death Dis, 2012 Mar 15. PMID 22419111, Free PMC Article
    4. Polymorphisms in mitochondrial genes and prostate cancer risk. Wang L, et al. Cancer Epidemiol Biomarkers Prev, 2008 Dec. PMID 19064571, Free PMC Article
    5. Genome-wide meta-analysis identifies new susceptibility loci for migraine. Anttila V, et al. Nat Genet, 2013 Aug. PMID 23793025, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
    2. codon 26 of COX7B2 gene might be evolutionarily conserved and the rare variation His26Gln may be associated with a high risk of nasopharyngeal carcinoma
      Title: A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma.
    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

    EBI GWAS Catalog

    Description
    A genome-wide search for type 2 diabetes susceptibility genes in an extended Arab family.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102754

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial electron transport, cytochrome c to oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial respirasome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex IV IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome c oxidase subunit 7B2, mitochondrial
    Names
    cytochrome c oxidase polypeptide VIIb2
    cytochrome c oxidase subunit VIIb2
    NP_570972.2
    XP_005248113.1
    XP_011511932.1
    XP_011511933.1
    XP_011511934.1
    XP_011511935.1
    XP_011511936.1
    XP_011511937.1
    XP_011511940.1
    XP_047305676.1
    XP_047305677.1
    XP_054205108.1
    XP_054205109.1
    XP_054205110.1
    XP_054205111.1
    XP_054205112.1
    XP_054205113.1
    XP_054205114.1
    XP_054205115.1
    XP_054205116.1
    XP_054205117.1

    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_130902.3 → NP_570972.2  cytochrome c oxidase subunit 7B2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_570972.2

      Status: VALIDATED

      Source sequence(s)
      AC107383, BC035923, BC107855, DB447854
      Consensus CDS
      CCDS3472.2
      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Related
      ENSP00000347799.3, ENST00000355591.8
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      46734827..46909245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449721.1 → XP_047305677.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    2. XM_011513633.3 → XP_011511935.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511935.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    3. XM_011513632.3 → XP_011511934.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511934.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    4. XM_011513638.3 → XP_011511940.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511940.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    5. XM_011513635.3 → XP_011511937.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511937.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    6. XM_047449720.1 → XP_047305676.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    7. XM_011513634.3 → XP_011511936.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511936.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    8. XM_011513630.3 → XP_011511932.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511932.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    9. XM_011513631.3 → XP_011511933.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011511933.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    10. XM_005248056.5 → XP_005248113.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005248113.1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
      UniProtKB/TrEMBL
      A0A0C4DGG2
      Conserved Domains (1) summary
      pfam05392
      Location:2 → 80
      COX7B; Cytochrome C oxidase chain VIIB

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      46701990..46876576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349140.1 → XP_054205115.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    2. XM_054349136.1 → XP_054205111.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    3. XM_054349135.1 → XP_054205110.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    4. XM_054349141.1 → XP_054205116.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    5. XM_054349139.1 → XP_054205114.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    6. XM_054349137.1 → XP_054205112.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    7. XM_054349138.1 → XP_054205113.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    8. XM_054349133.1 → XP_054205108.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    9. XM_054349134.1 → XP_054205109.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08

    10. XM_054349142.1 → XP_054205117.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      Q32Q40, Q8TF08
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF08.2 GenPept UniProtKB/Swiss-Prot:Q8TF08

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