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

Gene ID: 170712, updated on 12-Oct-2019

Summary

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
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
Expression
Restricted expression toward testis (RPKM 15.1) See more
Orthologs

Genomic context

See COX7B2 in Genome Data Viewer
Location:
4p12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (46734827..46909266, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (46736844..46911252, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 412, pseudogene Neighboring gene Rac family small GTPase 1 pseudogene 2 Neighboring gene gamma-aminobutyric acid type A receptor subunit alpha4 Neighboring gene gamma-aminobutyric acid type A receptor subunit beta1 Neighboring gene uncharacterized LOC105374442

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

Phenotypes

NHGRI GWAS Catalog

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

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 BioSystems

  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Cardiac muscle contraction, organism-specific biosystem (from KEGG)
    Cardiac muscle contraction, organism-specific biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cardiac muscle contraction, conserved biosystem (from KEGG)
    Cardiac muscle contraction, conserved biosystemContraction of the heart is a complex process initiated by the electrical excitation of cardiac myocytes (excitation-contraction coupling, ECC). In cardiac myocytes, Ca2+ influx induced by activation...
  • Cytochrome c oxidase, organism-specific biosystem (from KEGG)
    Cytochrome c oxidase, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
  • Cytochrome c oxidase, conserved biosystem (from KEGG)
    Cytochrome c oxidase, conserved biosystemStructural complex; Energy metabolism; ATP synthesis
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Oxidative phosphorylation, organism-specific biosystem (from KEGG)
    Oxidative phosphorylation, organism-specific biosystem
    Oxidative phosphorylation
  • Oxidative phosphorylation, conserved biosystem (from KEGG)
    Oxidative phosphorylation, conserved biosystem
    Oxidative phosphorylation
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...

General gene information

Markers

Homology

Clone Names

  • MGC102754

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
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial respiratory chain IEA
Inferred from Electronic Annotation
more info
 
respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_011511938.1
XP_011511939.1
XP_011511940.1

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_130902.3NP_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
    Q8TF08
    Related
    ENSP00000347799.3, ENST00000355591.8
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    46734827..46909266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011511935.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  2. XM_011513637.2XP_011511939.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511939.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  3. XM_011513632.2XP_011511934.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511934.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  4. XM_011513638.2XP_011511940.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511940.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  5. XM_011513635.2XP_011511937.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511937.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  6. XM_011513634.2XP_011511936.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511936.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  7. XM_011513630.2XP_011511932.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511932.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  8. XM_011513631.2XP_011511933.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511933.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  9. XM_011513636.1XP_011511938.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011511938.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
  10. XM_005248056.4XP_005248113.1  cytochrome c oxidase subunit 7B2, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005248113.1

    UniProtKB/Swiss-Prot
    Q8TF08
    Conserved Domains (1) summary
    pfam05392
    Location:280
    COX7B; Cytochrome C oxidase chain VIIB
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