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GJB7 gap junction protein beta 7 [ Homo sapiens (human) ]

Gene ID: 375519, updated on 23-Nov-2021

Summary

Official Symbol
GJB7provided by HGNC
Official Full Name
gap junction protein beta 7provided by HGNC
Primary source
HGNC:HGNC:16690
See related
Ensembl:ENSG00000164411 MIM:611921
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
Also known as
CX25; bA136M9.1; connexin25
Summary
Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
Expression
Biased expression in placenta (RPKM 1.2), lung (RPKM 0.3) and 3 other tissues See more
Orthologs
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Genomic context

See GJB7 in Genome Data Viewer
Location:
6q14.3-q15
Exon count:
4
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (87282978..87329278, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (87992698..88038996, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene reticulocalbin 1 pseudogene 1 Neighboring gene RNA polymerase I subunit F pseudogene Neighboring gene zinc finger protein 292 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 10 Neighboring gene tigger transposable element derived 6 pseudogene Neighboring gene small integral membrane protein 8 Neighboring gene chromosome 6 open reading frame 163

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

Associated conditions

Description Tests
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC71746

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables gap junction channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gap junction beta-7 protein
Names
connexin-25
gap junction protein, beta 7, 25kDa

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_198568.3NP_940970.1  gap junction beta-7 protein

    See identical proteins and their annotated locations for NP_940970.1

    Status: VALIDATED

    Source sequence(s)
    AK127554, BC057813, BM976147
    Consensus CDS
    CCDS5008.1
    UniProtKB/Swiss-Prot
    Q6PEY0
    Related
    ENSP00000435355.1, ENST00000525899.6
    Conserved Domains (1) summary
    pfam00029
    Location:2202
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    87282978..87329278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248716.2XP_005248773.1  gap junction beta-7 protein isoform X1

    See identical proteins and their annotated locations for XP_005248773.1

    UniProtKB/Swiss-Prot
    Q6PEY0
    Conserved Domains (1) summary
    pfam00029
    Location:2202
    Connexin; Connexin
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