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FLASH GENE
Symbol KCNJ2 contributors: mct/npt/pgu - updated : 08-02-2010
HGNC name potassium inwardly-rectifying channel, subfamily J, member 2
HGNC id 6263
Corresponding disease
ATFB9 atrial fibrillation, familial, 9
PPKCA Andersen cardiodysrhythmic periodic paralysis
SQT3 short QT syndrome-3
Location 17q24.3      Physical location : 68.165.675 - 68.176.181
Synonym name
  • inward rectifier K+ channel KIR2.1
  • cardiac inward rectifier potassium channel
  • Synonym symbol(s) IRK1, KIR2.1, HHIRK1, LQT7, HHBIRK1, HIRK1
    DNA
    TYPE functioning gene
    STRUCTURE 10.51 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status inconsistent : contradictory evidence
    Physical map
    PSMD12 17q24.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 PITPNC1 17q24.3 phosphatidylinositol transfer protein, cytoplasmic 1 DKFZP586L0724 17q24.3 DKFZP586L0724 protein LOC253924 17q24.3 similar to 60S ribosomal protein L17 (L23) FALZ 17q24 fetal Alzheimer antigen LOC284018 17q24.3 hypothetical protein LOC284018 LOC390809 17 similar to KIAA0563 protein LOC388413 17 similar to PP905 LOC51321 17q24.3 hypothetical protein LOC51321 SLC16A6 17q25.1 solute carrier family 16 (monocarboxylic acid transporters), member 6 KIAA1001 17q23-q24 solute carrier family 16 (monocarboxylic acid transporters), member 6 FLJ10055 17q24.3 hypothetical protein FLJ10055 PRKAR1A 17q23-q24 protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) FAM20A 17q24.3 family with sequence similarity 20, member A ABCA8 17q24 ATP-binding cassette, sub-family A (ABC1), member 8 ABCA9 17q24 ATP-binding cassette, sub-family A (ABC1), member 9 ABCA6 17q24.2 ATP-binding cassette, sub-family A (ABC1), member 6 ABCA10 17q24 ATP-binding cassette, sub-family A (ABC1), member 10 ABCA5 17q21-q25 ATP-binding cassette, sub-family A (ABC1), member 5 MAP2K6 17q23.1-q24.2 mitogen-activated protein kinase kinase 6 LOC388414 17 LOC388414 LOC388415 17 LOC388415 KCNJ16 17q23.1-q21.2 potassium inwardly-rectifying channel, subfamily J, member 16 KCNJ2 17q23.1-q24.2 potassium inwardly-rectifying channel, subfamily J, member 2 LOC390810 17 similar to calmodulin - rabbit (tentative sequence) LOC124685 17q25.1 similar to smooth muscle and non-muscle myosin alkali light chain isoform 1 LOC388416 17 LOC388416 SOX9 17q24.3-q25.1 SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) LOC388417 17 LOC388417 SLC39A11 17q25.1 solute carrier family 39 (metal ion transporter), member 11
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 5397 - 427 - 1995 7590287
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveintestinesmall intestine   
    Endocrineparathyroid    
    Respiratoryrespiratory tractlarynx   
    Urinarykidneynephron   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningcorneal epithelium  
    Epithelialsensoryvisual  
    Muscularstriatumskeletal   Homo sapiens
    Muscularstriatumcardiac   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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
  • a PIP2 binding membrane-associated domain
  • a cytoplasmic segment that is highly energetically unfavorable for cholesterol binding
  • type I PDZ recognition motif at the extreme C terminus mediating interaction with all three PDZ domains of PSD-93delta
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine MIrk1
    Homologene
    FAMILY
  • inward rectifier-type potassium channel family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • potassium voltage-gated channel, inwardly rectifying, playing a role in developmental signaling in addition to its function in controlling cell excitability in skeletal muscle and heart
  • responsible for controlling membrane excitability in many cell types
  • 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
  • plays a critical role in modulating excitability by setting the resting membrane potential and shaping phase 3 of the cardiac action potential
  • KCNJ2 and KCNJ12 have two distinct lipid requirements for activity: a specific requirement for INPP5J and a nonspecific requirement for anionic phospholipids
  • participates in the maintenance of the cell membrane potential in a variety of cells including neurons and cardiac myocytes
  • KCNJ2 channels are selected for export from the Golgi in a signal-dependent manner through an AP1 clathrin adaptor interaction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by powerful inhibitory effect of the AMP-activated kinase AMPK on the widely expressed inwardly rectifying K+ channel KCNJ2
    Other ATP regulated
    regulated by nitric oxide (NO) (under physiological conditions, NO regulates KCNJ2 through a redox-related process)
    ASSOCIATED DISORDERS
    corresponding disease(s) PPKCA , SQT3 , ATFB9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   translocation    
    non-syndromic Pierre-robin sequence may be caused by both SOX9 and KCNJ2 dysregulation in a patient with t(2;17)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS