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FLASH GENE
Symbol KCNJ5 contributors: mct - updated : 01-10-2013
HGNC name potassium inwardly-rectifying channel, subfamily J, member 5
HGNC id 6266
PROTEIN
PHYSICAL PROPERTIES Amphiphilic
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 , heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • potassium channel subfamily J
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • potassium non voltage-gated channel, inwardly rectifying
  • important functional effector of the P2Y(12) receptor in platelets
  • controls membrane potentials and regulate cell activities including energy metabolism, apoptosis and gene expression
  • having particularly important role in the regulation of insulin secretion from pancreatic beta-cells and in regulating action potential duration in muscle cells
  • having a critical role for depotentiation, one form of excitatory synaptic plasticity
  • plays potentially a role in regulating membrane excitability in chemically defined neurons of the arcuate nucleus that control body weight
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text potassium ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • forming heterotetramers with Kir4.1 (KCNJ10) and Kir5.1(KCNJ16)
  • exists both as homotetramers and heterotetramers with KCNJ3 (KCNJ3 is inactive as a homotetramer)
    • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
    • protein
  • AGT appears to stimulate aldosterone secretion by depolarizing the membrane acting in part through the regulation of the expression and activity of KCNJ5
  • AGT- stimulation of aldosterone secretion is mediated in part by suppression of the transcription of KCNJ5, and blocking channel activity
    • cell & other
    REGULATION
    Other ATP-regulated
    ASSOCIATED DISORDERS
    corresponding disease(s) LQT13 , FHA3
    Susceptibility
  • to hypertension featuring high aldosterone:renin ratios and/or primary aldosteronism
    • Variant & Polymorphism SNP
  • G151E mutations might frequently contribute to development of hypertension featuring high aldosterone:renin ratios and/or primary aldosteronism in the absence of aldosterone-producing adrenal adenomas or hyperplasia
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS