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FLASH GENE
Symbol KCNJ11 contributors: mct/shn - updated : 24-08-2016
HGNC name potassium inwardly-rectifying channel, subfamily J, member 11
HGNC id 6257
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
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies ortholog to KCNJ11, Pan troglodytes
    ortholog to Kcnj11, Rattus norvegicus
    ortholog to Kcnj11, Mus musculus
    ortholog to kcnj11, Danio rerio
    Homologene
    FAMILY
  • potassium channel subfamily J
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • having inward rectifier potassium channel activity
  • inhibiting, by the binding to adenine nucleotides, which closes the channel, the ATP sensitive Katp channel
  • ATP-sensitive K(+) (K(ATP)) channels, comprised of pore-forming KCNJ11 and regulatory ABCC8 subunits, play a critical role in regulating insulin secretion
  • might play a significant role in beta cell survival in addition to its role in the regulation of insulin secretion
  • plays a role in the pathogenesis of decreased insulin sensitivity in essential hypertension patients
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent with SUR1 of an ATP dependent potassium channel(Katp)
  • stoichiometric association in a complex of 4 (KCNJ11) (ABCC8)
  • component of ATP sensitive K+ channels
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • sulfonylurea receptor 2A, SUR2A
  • he two intracellular domains of Kir6.2 physically interact with each other
  • Kir 6.1 to produce functional channels
  • interacting with ANK2 (ANK2 has multiple roles in the active trafficking of KCNJ11 to the plasma membrane, as well as key roles in the retention and stabilization of KCNJ11 in relation to the plasma membrane and cytoskeleton)
  • ABCC8 controls KCNJ11 gating by modulating KCNJ11 interactions with INPP5J
  • slide helix elements that are required for functional channel expression and control of KCNJ11 gating by intracellular ATP
  • SPTBN4–targeted CAMK2A directly phosphorylates the inwardly-rectifying potassium channel, KCNJ11
  • SPTBN4 is required for CAMK2D, ANK2, KCNJ11, and ABCC8 expression in beta cells
  • KCNJ11 acts as an oncogene in hepatocellular carcinoma (HCC) though forming a complex with LDHA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HHF2 , NIDDM15 , PNDM3 , HHF1 , MODY13
    Susceptibility to type 2 diabetes with weight gain and obesity
    Variant & Polymorphism other E23K polymorphism enhancing susceptibility to type 2 diabetes, and to gestational diabetes mellitus
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice expressing a dominant-negative form of the KATP channel subunit Kir6. 2 develop hypoglycemia with hyperinsulinemia in neonates and hyperglycemia with hypoinsulinemia and decreased beta cell population in adults
  • transgenic mice expressing beta cell K(ATP) channels with reduced ATP sensitivity develop severe hyperglycemia, hypoinsulinemia, and ketoacidosis and die within 5 days
  • mice lacking the Kir6.2 subunit of K(ATP) channels are susceptible to generalized seizures after brief hypoxia
  • mouse expressing a Kir6.2 mutation (V59M) specifically in pancreatic beta cells develop severe diabetes soon after birth and display a reduced percentage of beta cells with abnormal morphology and lower insulin content
  • mice carrying a human Kir6.2 mutation (Val59-->Met59) targeted to either muscle or nerve display motor impairments originate in the central nervous system rather than in muscle or peripheral nerves