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FLASH GENE
Symbol KCNJ6 contributors: mct/npt/pgu - updated : 26-02-2015
HGNC name potassium inwardly-rectifying channel, subfamily J, member 6
HGNC id 6267
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two membrane-spanning domains
  • an amphipatic region pore, including the P domain with the K+ channel signature
  • an ATP-binding regulatory domain
  • Gbetagamma-interacting segments in the first half of the C terminus
    • mono polymer homomer , heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • inward rectifier-type potassium channel family
  • subfamily J
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic,granule
    text
  • coexpressed with SUR (see symbol)
  • expression in granule cells continued throughout postnatal development and adulthood
    • basic FUNCTION
  • may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors
  • important functional effector of the P2Y(12) receptor in platelets
  • mediate the synaptic actions of numerous neurotransmitters in the mammalian brain and play an important role in the regulation of neuronal excitability in most brain regions through activation of various G-protein-coupled receptors
  • having a critical role for depotentiation, one form of excitatory synaptic plasticity
  • inward-rectifying K(+) ion channel supporting sperm function during fertilization
  • may likely provide a significant route for modulating different aspects of cerebellar development
  • is both necessary and sufficient for peripheral opioid-mediated analgesia
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms homotetramers and heterotetramers with GIRK1 and GIRK3 in the central nervous system
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KCNJ6/MAP3K7IP1 interaction is crucial for BIRK4-induced MAP3K7 and NF-kappaB activation
  • capable of interacting with GNB1, GNB2, GNB3 and not GNB4 or GNB5
    • cell & other
    REGULATION
    Other ATP-regulated
    ASSOCIATED DISORDERS
    corresponding disease(s) TRI21 , KPLBS
    Susceptibility
    Variant & Polymorphism
    Candidate gene could be a candidate for other lipodystrophies
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • GIRK subunits are present in most of the 5-HT(1A) receptor-expressing cells in hippocampus, cerebral cortex, septum, and dorsal raphe nucleus in rat brain
  • Girk2 null mice are fertile, the male weaver transgenic mice carrying a gain-of-function mutation in the Girk2 gene are infertile