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

    Gene ID: 2706, updated on 1-May-2016
    Official Symbol
    GJB2provided by HGNC
    Official Full Name
    gap junction protein beta 2provided by HGNC
    Primary source
    HGNC:HGNC:4284
    See related
    Ensembl:ENSG00000165474 HPRD:00413; MIM:121011; Vega:OTTHUMG00000016513
    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; 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]
    Orthologs
    Location:
    13q11-q12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (20187463..20192975, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20761602..20768605, complement)

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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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: C1835678 OMIM: 148210 GeneReviews: Not available
    Compare labs
    Keratoderma palmoplantar deafness
    MedGen: C1835672 OMIM: 148350 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

    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
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Gap junction assembly, organism-specific biosystem (from REACTOME)
      Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
    • Gap junction trafficking, organism-specific biosystem (from REACTOME)
      Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
    • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
      Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Oligomerization of connexins into connexons, organism-specific biosystem (from REACTOME)
      Oligomerization of connexins into connexons, organism-specific biosystemThe mechanism of connexin assembly into connexons has been well characterized. Two different types of connexons can be formed. A connexon containing six identical connexin molecules is referred to as...
    • Transport of connexins along the secretory pathway, organism-specific biosystem (from REACTOME)
      Transport of connexins along the secretory pathway, organism-specific biosystemConnexins follow the classical secretory transport route from the ER to the plasma membrane: ER -> ERGIC -> Golgi -> TGN (Trans Golgi Network) -> PM (Plasma Membrane). All connexins assemble or oli...
    • Transport of connexons to the plasma membrane, organism-specific biosystem (from REACTOME)
      Transport of connexons to the plasma membrane, organism-specific biosystemFollowing connexon oligomerization, the hemichannels must be transported to the plasma membrane. This has been shown to occur in transport vesicles called "cargo containers". Most of post-Golgi carg...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    gap junction channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    gap junction assembly TAS
    Traceable Author Statement
    more info
     
    male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to human chorionic gonadotropin IEA
    Inferred from Electronic Annotation
    more info
     
    response to progesterone IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    connexon complex IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    gap junction beta-2 protein
    Names
    connexin 26
    gap junction protein, beta 2, 26kDa
    mutant gap junction protein beta 2

    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
      5001..10513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004004.5NP_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, BI491091, DA287424
      Consensus CDS
      CCDS9290.1
      UniProtKB/Swiss-Prot
      P29033
      UniProtKB/TrEMBL
      H9U1J4
      Related
      ENSP00000372299, OTTHUMP00000018093, ENST00000382848, OTTHUMT00000044063
      Conserved Domains (2) summary
      pfam00029
      Location:2108
      Connexin; Connexin
      smart01089
      Location:146213
      Connexin_CCC; Gap junction channel protein cysteine-rich domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

      Range
      20187463..20192975 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535049.1XP_011533351.1  

      See identical proteins and their annotated locations for XP_011533351.1

      UniProtKB/Swiss-Prot
      P29033
      UniProtKB/TrEMBL
      H9U1J4
      Related
      ENSP00000372295, OTTHUMP00000018094, ENST00000382844, OTTHUMT00000044064
      Conserved Domains (2) summary
      pfam00029
      Location:2108
      Connexin; Connexin
      smart01089
      Location:146213
      Connexin_CCC; Gap junction channel protein cysteine-rich domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      20730111..20735623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)