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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
LQT7 long QT syndrome with ventricular tachyarrhythmia, type 7
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
    Physical map
    LOC387819 11 LOC387819 FLJ14494 11q24.2 hypothetical protein FLJ14494 FLJ21103 11q24.2 hypothetical protein FLJ21103 SRPR 11q24.1 signal recognition particle receptor ('docking protein') H17 11q24.2 hypothetical protein H17 TIRAP 11q24.2 toll-interleukin 1 receptor (TIR) domain containing adaptor protein DCPS 11q24.2 mRNA decapping enzyme SIAT4C 11q23-q24 sialyltransferase 4C (beta-galactoside alpha-2,3-sialyltransferase) KIRREL3 11q24 kin of IRRE like 3 (Drosophila) FLJ40224 11q24.2 hypothetical protein FLJ40224 LOC387820 11 similar to DnaJ (Hsp40) homolog, subfamily B, member 6 isoform a; heat shock protein J2 LOC283166 11q24.3 hypothetical LOC283166 ETS1 11q23.3 v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) LOC387821 11 hypothetical gene supported by BC039676 FLI1 11q24 Friend leukemia virus integration 1 KCNJ1 11q25 potassium inwardly-rectifying channel, subfamily J, member 1 KCNJ5 11q24 potassium inwardly-rectifying channel, subfamily J, member 5 MGC35558 11q24.3 hypothetical protein MGC35558 P53AIP1 11q24 p53-regulated apoptosis-inducing protein 1 RICS 11q24-q25 p53-regulated apoptosis-inducing protein 1 LOC387822 11 similar to hypothetical protein BARX2 11q25 BarH-like homeobox 2 LOC387823 11 LOC387823 LOC120224 11q24.3 hypothetical protein BC016153 NFRKB 11q24-q25 nuclear factor related to kappa B binding protein PRDM10 11q25 PR domain containing 10 LOC253665 11q24.3 similar to Transcription elongation factor B polypeptide 2 (RNA polymerase II transcription factor SIII subunit B) (SIII p18) (Elongin B) (EloB) (Elongin 18 kDa subunit) APLP2 11q24 amyloid beta (A4) precursor-like protein 2 ST14 11q24-q25 suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin) HSPC063 11q24.3 HSPC063 protein ADAMTS8 11q25 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8 ADAMTS15 11q25 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15 LOC390277 11 similar to Bcl-2 homologous antagonist/killer (Apoptosis regulator BAK) (BCL2-like 7 protein) FLJ39058 11q25 hypothetical protein FLJ39058 LOC387824 11 LOC387824 MGC43033 11q25 hypothetical protein MGC43033 SNX19 11q25 sorting nexin 19 LOC219797 11q25 similar to KIAA1838
    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) LQT7 , 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