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FLASH GENE
Symbol KCNJ10 contributors: mct - updated : 10-12-2014
HGNC name potassium inwardly-rectifying channel, subfamily J, member 10
HGNC id 6256
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 heteromer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • inward rectifier-type potassium channel family
  • potassium channel subfamily J
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the development of spinal cord and in the regulation of crucial steps during the maturation of oligodendrocytes
  • key regulator of glial functions, which in turn determine neuronal excitability and axonal conduction
  • role of KCNJ10 function in the physiology of proximal and possibly also the distal human retina
  • KCNJ10 channels are involved in the control of acid secretion, suggesting that they may also affect secretory membrane recycling
  • mediates spatial K(+)-buffering in the CNS
  • tyrosine phosphorylation of KCNJ10 plays a role in regulating membrane transport in distal convoluted tubule (DCT1)
  • plays a dominant role in determining the basolateral K conductance and membrane potential of early distal convoluted tubule (DCT1)
  • is a main K(+) channel expressed in corneal epithelial cells and the inhibition of KCNJ10 resulted in depolarization, which in turn induced an EGF-like effect
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming heterotetramers with Kir4.2 (KCNJ5) and Kir5.1 (KCNJ16)
  • KCNJ10 and KCNJ16, form a heterotetramer in the basolateral membrane of the distal convoluted tubule (DCT)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts directly with CASR and KCNJ15 and can decrease their currents, which in turn could reduce recycling of K(+) for the basolateral Na(+)-K(+)-ATPase and thereby contribute to inhibition of Na(+) reabsorption
  • is a main contributor to the basolateral K conductance in the early distal convoluted tubule (DCT1) and determines the expression of the apical SLC12A3 in the DCT
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SESAME
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in severe hypomyelination
    constitutional germinal mutation      
    associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with enlarged vestibular aqueduct
    Susceptibility
  • to general seizures
  • to common types of childhood epilepsy
  • Variant & Polymorphism SNP , other
  • increasing the risk of general seizures
  • G/T genotype of the KCNJ10 gene rs2486253 polymorphism affects risk for development of common types of childhood epilepsy
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mice deficient for KCNJ10 show a related phenotype with seizures, ataxia, and hearing loss, further supporting KCNJ10's role in this syndrome