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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
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