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GJB2 gap junction protein beta 2 [ Homo sapiens (human) ]

Gene ID: 2706, updated on 23-Nov-2021

Summary

Official Symbol
GJB2provided by HGNC
Official Full Name
gap junction protein beta 2provided by HGNC
Primary source
HGNC:HGNC:4284
See related
Ensembl:ENSG00000165474 MIM:121011
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
HID; KID; PPK; BAPS; CX26; DFNA3; DFNB1; NSRD1; DFNA3A; DFNB1A
Summary
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
Expression
Biased expression in esophagus (RPKM 338.5) and skin (RPKM 18.9) See more
Orthologs
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Genomic context

See GJB2 in Genome Data Viewer
Location:
13q12.11
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (20187470..20192938, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20761609..20767077, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene gap junction protein alpha 3 Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene gap junction protein beta 6 Neighboring gene uncharacterized LOC105370102

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
Deafness, autosomal dominant 3a Compare labs
Deafness, autosomal recessive 1A Compare labs
Deafness, digenic, GJB2/GJB3
MedGen: C2673761 GeneReviews: Not available
Compare labs
Deafness, X-linked 2 Compare labs
Hystrix-like ichthyosis with deafness
MedGen: C1865234 OMIM: 602540 GeneReviews: Not available
Compare labs
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
MedGen: C0265336 OMIM: 148210 GeneReviews: Not available
Compare labs
Knuckle pads, deafness AND leukonychia syndrome
MedGen: C0266004 OMIM: 149200 GeneReviews: Not available
Compare labs
Mutilating keratoderma
MedGen: C0265964 OMIM: 124500 GeneReviews: Not available
Compare labs
Palmoplantar keratoderma-deafness syndrome
MedGen: C1835672 OMIM: 148350 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-05-10)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2012-05-10)

ClinGen Genome Curation Page

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 calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
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 
enables gap junction channel activity involved in cell communication by electrical coupling IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in cell communication by electrical coupling IEA
Inferred from Electronic Annotation
more info
 
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to dexamethasone stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to glucagon stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
involved_in decidualization IEA
Inferred from Electronic Annotation
more info
 
involved_in epididymis development IEA
Inferred from Electronic Annotation
more info
 
involved_in gap junction assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in gap junction-mediated intercellular transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
 
involved_in response to antibiotic IEA
Inferred from Electronic Annotation
more info
 
involved_in response to estradiol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to human chorionic gonadotropin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ischemia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to progesterone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in astrocyte projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell body IEA
Inferred from Electronic Annotation
more info
 
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of connexin complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum-Golgi intermediate compartment TAS
Traceable Author Statement
more info
 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
gap junction beta-2 protein
Names
connexin 26
gap junction beta 2 proteinc
gap junction protein, beta 2, 26kDa
mutant gap junction beta 2 protein
mutant gap junction protein beta 2

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.

Genomic

  1. NG_008358.1 RefSeqGene

    Range
    5038..10506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1350

mRNA and Protein(s)

  1. NM_004004.6NP_003995.2  gap junction beta-2 protein

    See identical proteins and their annotated locations for NP_003995.2

    Status: REVIEWED

    Source sequence(s)
    AA962716, BC017048, BC071703, DA287424
    Consensus CDS
    CCDS9290.1
    UniProtKB/Swiss-Prot
    P29033
    UniProtKB/TrEMBL
    H9U1J4
    Related
    ENSP00000372299.4, ENST00000382848.5
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    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_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    20187470..20192938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535049.2XP_011533351.1  gap junction beta-2 protein isoform X1

    See identical proteins and their annotated locations for XP_011533351.1

    UniProtKB/Swiss-Prot
    P29033
    UniProtKB/TrEMBL
    H9U1J4
    Conserved Domains (1) summary
    pfam00029
    Location:2215
    Connexin
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