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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
Corresponding disease
FHA3 hyperaldosteronism, familial, type III
LQT13 long QT syndrome with ventricular tachyarrhythmia, type 13
Location 11q24.3      Physical location : 128.761.312 - 128.787.949
Synonym name
  • inward rectifier K(+) channel Kir3.4
  • heart KATP channel
  • G protein-activated inward rectifier potassium channel 4
  • Synonym symbol(s) CIR, GIRK4, KATP1, Kir3.4, LQT13
    DNA
    TYPE functioning gene
    STRUCTURE 26.65 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2912 47.5 419 - 1996 8558261
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheartatrium  highly
     heartventricle  highly
    Digestiveesophagus     Homo sapiens
    Endocrineadrenal glandcortex  highly Homo sapiens
    Nervousbrainlimbic systemhippocampus   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothmuscularis mucosa (tractus digestif)   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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