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

    Gene ID: 2706, updated on 4-Jan-2025

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20187470..20192938, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19383900..19389385, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (42 hits/1259 screens)

    Associated conditions

    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

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell communication by electrical coupling  
    involved_in cell-cell signaling  
    involved_in cell-cell signaling  
    involved_in cellular response to dexamethasone stimulus  
    involved_in cellular response to glucagon stimulus  
    involved_in cellular response to oxidative stress  
    involved_in decidualization  
    involved_in epididymis development  
    involved_in gap junction assembly PubMed 
    involved_in gap junction-mediated intercellular transport  
    involved_in gap junction-mediated intercellular transport PubMed 
    involved_in inner ear development  
    involved_in response to estradiol  
    involved_in response to human chorionic gonadotropin  
    involved_in response to ischemia  
    involved_in response to lipopolysaccharide  
    involved_in response to progesterone  
    involved_in response to retinoic acid  
    involved_in sensory perception of sound  
    involved_in transmembrane transport PubMed 
    Component Evidence Code Pubs
    located_in astrocyte projection  
    located_in cell body  
    part_of connexin complex  
    part_of connexin complex PubMed 
    located_in endoplasmic reticulum-Golgi intermediate compartment  
    located_in gap junction PubMed 
    located_in lateral plasma membrane  
    located_in perinuclear region of cytoplasm  
    located_in plasma membrane PubMed 
    located_in plasma membrane  

    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_004004.6 → NP_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:2 → 215
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011535049.3 → XP_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:2 → 215
      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_054374463.1 → XP_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
      A0A2R4SEG2, A0A481MT65, A0A481MTA8, A0A481MTF8, B2R914, H9U1J4, V5Q007, W8FX79
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