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FLASH GENE
Symbol KCNJ2 contributors: mct/npt/pgu - updated : 20-12-2018
HGNC name potassium inwardly-rectifying channel, subfamily J, member 2
HGNC id 6263
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
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    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
  • normal KCNJ2 channel function is essential during osteoblastogenesis
  • may participate in macrophage maturation and differentiation, and play a key role in lipid uptake and foam cell formation through modulating the expression of scavenger receptors.
  • plays key roles in regulation of resting membrane potential and cell excitability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text ion transport
    PATHWAY
    metabolism
    signaling
    a component
  • CDON forms a complex with KCNJ2 during myogenic differentiation, and is required for the channel activity by enhancing the surface expression of KCNJ2 in the early stage of differentiation
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • multiple proteolytic pathways control KCNJ2 levels at the plasma membrane
  • inhibition of KCNJ2 channels increases cell mobility without affecting cell cycling progression in human cardiac KIT progenitor cells
  • STK39 and OXSR1 are both stimulators of KCNJ2 activity, and they are presumably effective by enhancing channel insertion into the cell membrane
  • promyogenic CDON signaling is critical for KCNJ2 activities in the induction of myogenic differentiation
    • cell & other
    REGULATION
    activated by hypoxic stress that up-regulates KCNJ2 expression and facilitates cell proliferation in brain capillary endothelial cells
    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)
    is targeted for endoplasmic reticulum-associated degradation (ERAD)
    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)
    constitutional germinal mutation      
    cause a similar constellation of birth defects as in Fetal alcohol spectrum disorder (FASD), and alcohol targets likely KCNJ2 to cause the birth defects associated
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • DUSP1 and KCNJ2 may be associated with mechanical asphyxia-induced death and can thus serve as useful biomarkers of death by mechanical asphyxia
    • Therapy target
    SystemTypeDisorderPubmed
    cardiovascularatheroma 
    may be a potential therapeutic target in the treatment of cardiovascular diseases, such as atherosclerosis and restenosis following percutaneous coronary intervention
    ANIMAL & CELL MODELS