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FLASH GENE
Symbol GJD2 contributors: mct/shn - updated : 09-02-2010
HGNC name gap junction protein, delta 2, 36kDa
HGNC id 19154
Location 15q14      Physical location : 35.044.678 - 35.046.689
Synonym name
  • connexin 36
  • rat connexin-36 homolog
  • gap junction protein, alpha 9, 36kDa
    • Synonym symbol(s) GJA9, CX36, MGC138315, MGC138319
    DNA
    TYPE functioning gene
    STRUCTURE 2.01 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D15S1040 - D15S1232 - GJD2 - D15S971 - D15S971 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 966 36 321 . predominantly in neurons . in ganglion cell and cone and rod gap jonctions in retina 2007 17828386
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain   specific
    Olfactory (smell)olfactory bulb   highly
    Visualeyeretina  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousmicroglia Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two cytoplasmic CAMK2A binding sequences
    • mono polymer hexamer
    HOMOLOGY
    interspecies ortholog to Gjd2, Mus musculus
    ortholog to Gjd2, Rattus norvegicus
    ortholog to GJD2, Pan troglodytes
    Homologene
    FAMILY
  • connexin family
  • delta-type subfamily
    • CATEGORY adhesion , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,gap
    basic FUNCTION
  • contributing to control function of insulin-producing cells
  • critical for the generation of widespread, synchronous inhibitory activity
  • essential for transmission of rod-mediated visual signals in the mammalian retina
  • implicated in intercellular coupling occuring between neuronal and microglial populations
  • GJD2 signalling significantly contributes to the modulation of insulin secretion
  • a native protein of human pancreatic islets, which mediates the coupling of the insulin-producing beta-cells, and contributes to control beta-cell function by modulating gene expression
    • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS cell to cell transport
    PATHWAY
    metabolism
    signaling
    a component
  • associated in groups of six and organized radially around a central pore to form connexons
  • each gap junction intercellular channel is formed by the conjunction of two connexons
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with and is phosphorylated by CAMK2A in a way similar to CAMK2A phosphorylation of glutamate receptors
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to juvenile myoclonic epilepsy (JME)
    Variant & Polymorphism other allelic and genotypic association with JME
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in connexin36 knockout mice rod–cone gap junctions are disrupted