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

Gene ID: 170712, updated on 2-Nov-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 be involved in mitochondrial electron transport, cytochrome c to oxygen. Predicted to act upstream of or within spermatogenesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 15.1) See more
Orthologs
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Genomic context

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See COX7B2 in Genome Data Viewer
Location:
4p12
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (46734827..46909245, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (46701990..46876576, complement)
RS_2024_09 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 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 (11) 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 inner membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 
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_2024_08

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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