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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2537 48.3 423 - 2003 12743112
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus     Homo sapiens
Nervousbrainhindbraincerebellum   Mus musculus
 brainmidbrainsubstantia nigra   Homo sapiens
 braindiencephalonthalamus   Mus musculus
 brainlimbic systemhippocampus   Mus musculus
 brainforebraincerebral cortex   Mus musculus
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularsmoothmuscularis mucosa (tractus digestif)   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
Nervousdopaminergic neuron Homo sapiens
Nervousneuron Homo sapiens
Reproductivespermatid Mus musculus
cell lineage
cell lines
fluid/secretion
at STAGE
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