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FLASH GENE
Symbol KCNJ12 contributors: mct - updated : 27-10-2012
HGNC name potassium inwardly-rectifying channel, subfamily J, member 12
HGNC id 6258
Corresponding disease
PPKCA Andersen cardiodysrhythmic periodic paralysis
Location 17p11.2      Physical location : 21.279.698 - 21.323.179
Synonym name
  • ATP-sensitive inward rectifier potassium channel 12
  • potassium inwardly-rectifying channel, subfamily J, inhibitor 1
  • inward rectifier K(+) channel Kir2.2
  • ATP-sensitive inward rectifier potassium channel 12
  • Synonym symbol(s) KIR2.2, KCNJN1, IRK2, hIRK, Kir2.2v, hIRK1, FLJ14167
    DNA
    TYPE functioning gene
    STRUCTURE 43.48 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC390775 17 similar to ubiquitin specific protease 6; tre-2 oncogene; hyperpolymorphic gene 1 LOC388353 17 similar to AF038169 protein LOC347720 LOC256223 17p11.2 similar to CDRT15 protein LOC390776 17 similar to RIKEN cDNA E130119J17 LOC257468 17p11.2 similar to Homeobox protein Meis3 (Meis1-related protein 2) LOC342646 17p11.2 similar to differentially expressed in FDCP 8 LOC390777 17 similar to RIKEN cDNA 2610318I15 LOC388354 17 similar to PTD016 protein LOC284202 17p11.2 similar to stearoyl-CoA desaturase; acyl-CoA desaturase; fatty acid desaturase; delta-9-desaturase LOC339184 17p11.2 similar to hypothetical protein FLJ36492 LOC284203 17p11.2 similar to Ribonuclease H1 (RNase H1) (Ribonuclease H type II) USP22 17p13.1 ubiquitin specific protease 22 DKFZp566O084 17p12 DKFZP566O084 protein C17orf35 17p11.1 chromosome 17 open reading frame 35 MGC33894 17p11.2 transcript expressed during hematopoiesis 2 MAP2K3 17q11.2 mitogen-activated protein kinase kinase 3 KCNJ12 17p11.1 potassium inwardly-rectifying channel, subfamily J, member 12 LOC388355 17 similar to 60S ribosomal protein L21 LOC388356 17 LOC388356 LOC388357 17 similar to bB329D4.2.1 (novel protein similar to a truncated nuclear receptor co-repressor 1 (NCOR1) (retinoid X receptor interacting protein 13), isoform 1) LOC388358 17 hypothetical gene supported by BC042812 UBBP4 17p11.2 ubiquitin B pseudogene 4 LOC284123 17p11.2 hypothetical gene supported by BC031617 LOC388360 17 LOC388360
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 5230 - 433 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Reproductivefemale systemuterus   
    Respiratorylung    
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    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
  • mono polymer homomer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • potassium channel subfamily J
  • inward rectifier-type potassium channel family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • participating in establishing action potential waveform and excitability of neuronal and muscle tissues
  • KCNJ2 and KCNJ12 are primary determinants of endogenous K(+) conductance in aortic endothelial cells under resting conditions and KCNJ12 provides the dominant conductance in these cells
  • KCNJ2 and KCNJ12 have two distinct lipid requirements for activity: a specific requirement for INPP5J and a nonspecific requirement for anionic phospholipids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EDN1 inhibits human cardiac I(K1) current via a PKC-mediated phosphorylation of KCNJ12 channel subunits and additional regulatory effects on KCNJ4 channels
  • binding to INPP5J
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PPKCA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS