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

    Gene ID: 2706, updated on 7-Apr-2024

    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; AllianceGenome:HGNC:4284
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJB2 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20187470..20192938, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19383900..19389385, complement)
    105.20220307 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 uncharacterized LOC124903128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20715699-20716200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20725717-20726216 Neighboring gene gap junction protein alpha 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5152 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 Neighboring gene uncharacterized LOC107984553 Neighboring gene peptidylprolyl isomerase A pseudogene 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7417 Neighboring gene gap junction protein beta 6 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32461 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
    Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
    MedGen: C0265336 OMIM: 148210 GeneReviews: Not available
    Compare labs
    Autosomal dominant nonsyndromic hearing loss 3A
    MedGen: C2675750 OMIM: 601544 GeneReviews: Genetic Hearing Loss Overview
    Compare labs
    Autosomal recessive nonsyndromic hearing loss 1A Compare labs
    Deafness, digenic, GJB2/GJB3
    MedGen: C2673761 GeneReviews: Not available
    Compare labs
    Ichthyosis, hystrix-like, with hearing loss
    MedGen: C1865234 OMIM: 602540 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
    X-linked mixed hearing loss with perilymphatic gusher
    MedGen: C1844678 OMIM: 304400 GeneReviews: Genetic Hearing Loss Overview
    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

    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
     
    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 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
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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
     
    part_of connexin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 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)

    NEW Try the new Transcript table

    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, Q508A5, Q508A6, Q5YLL0, Q5YLL1, Q5YLL4, Q6IPV5, Q86U88, Q96AK0, Q9H536, Q9NNY4
      UniProtKB/TrEMBL
      A0A2R4SEG2, A0A481MT65, A0A481MTA8, A0A481MTF8, B2R914, H9U1J4, V5Q007, W8FX79
      Related
      ENSP00000372299.4, ENST00000382848.5
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011535049.3XP_011533351.1  gap junction beta-2 protein isoform X1

      See identical proteins and their annotated locations for XP_011533351.1

      UniProtKB/Swiss-Prot
      P29033, Q508A5, Q508A6, Q5YLL0, Q5YLL1, Q5YLL4, Q6IPV5, Q86U88, Q96AK0, Q9H536, Q9NNY4
      UniProtKB/TrEMBL
      A0A2R4SEG2, A0A481MT65, A0A481MTA8, A0A481MTF8, B2R914, H9U1J4, V5Q007, W8FX79
      Conserved Domains (1) summary
      pfam00029
      Location:2215
      Connexin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      19383900..19389385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374463.1XP_054230438.1  gap junction beta-2 protein isoform X1

      UniProtKB/Swiss-Prot
      P29033, Q508A5, Q508A6, Q5YLL0, Q5YLL1, Q5YLL4, Q6IPV5, Q86U88, Q96AK0, Q9H536, Q9NNY4
      UniProtKB/TrEMBL
      H9U1J4