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GJB5 gap junction protein beta 5 [ Homo sapiens (human) ]

Gene ID: 2709, updated on 23-Nov-2021

Summary

Official Symbol
GJB5provided by HGNC
Official Full Name
gap junction protein beta 5provided by HGNC
Primary source
HGNC:HGNC:4287
See related
Ensembl:ENSG00000189280 MIM:604493
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
CX31.1
Summary
This gene encodes a member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
Expression
Biased expression in skin (RPKM 23.3), esophagus (RPKM 21.2) and 2 other tissues See more
Orthologs
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Genomic context

See GJB5 in Genome Data Viewer
Location:
1p34.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (34754777..34758513)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35220648..35224113)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378640 Neighboring gene uncharacterized LOC105378641 Neighboring gene microRNA 552 Neighboring gene uncharacterized LOC105378642 Neighboring gene gap junction protein beta 4 Neighboring gene gap junction protein beta 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in epidermis development TAS
Traceable Author Statement
more info
PubMed 
involved_in epididymis development IEA
Inferred from Electronic Annotation
more info
 
involved_in labyrinthine layer morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in trophoblast giant cell differentiation IEA
Inferred from Electronic Annotation
more info
 
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-5 protein
Names
gap junction protein, beta 5 (connexin 31.1)
gap junction protein, beta 5, 31.1kDa
gap junctional protein cx31.1

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_005268.4NP_005259.1  gap junction beta-5 protein

    See identical proteins and their annotated locations for NP_005259.1

    Status: REVIEWED

    Source sequence(s)
    AA877961, AK129509, BC004379
    Consensus CDS
    CCDS382.1
    UniProtKB/Swiss-Prot
    O95377
    Related
    ENSP00000340811.1, ENST00000338513.1
    Conserved Domains (1) summary
    pfam00029
    Location:2209
    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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    34754777..34758513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005270751.3XP_005270808.1  gap junction beta-5 protein isoform X1

    See identical proteins and their annotated locations for XP_005270808.1

    UniProtKB/Swiss-Prot
    O95377
    Conserved Domains (1) summary
    pfam00029
    Location:2209
    Connexin
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