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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
Corresponding disease
SESAME seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome
Location 1q23.2      Physical location : 160.007.257 - 160.040.051
Synonym name
  • glial inwardly rectifying potassium channel
  • inward rectifier K+ channel KIR1.2
  • ATP-dependent inwardly rectifying potassium channel Kir4.1
  • Synonym symbol(s) KCNJ13, KIR1.2, KIR4.1, BIRK-10, KCNJ13-PEN
    DNA
    TYPE anonymous DNA segment
    SPECIAL FEATURE arranged in tandem
    text arranged in tandem with KCNJ9
    STRUCTURE 31.92 kb     2 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC391118 1 similar to olfactory receptor MOR267-3 LOC391119 1 similar to olfactory receptor GA_x6K02T2R7CC-664297-665229 LOC343409 1q23.1 similar to Olfactory receptor 10J1 (Olfactory receptor-like protein HGMP07J) LOC391120 1 similar to olfactory receptor MOR267-3 LOC391121 1 similar to olfactory receptor MOR267-3 OR10J1 1q22 olfactory receptor, family 10, subfamily J, member 1 LOC127385 1q23.1 similar to Olfactory receptor 10J5 LOC391122 1 similar to porcine serum amyloid P component (SAP) APCS 1q23.2 amyloid P component, serum LOC339511 1q23.1 similar to Olfactory receptor 10J6 LOC171422 1q23.1 C-reactive protein pseudogene CRP 1q23.2 C-reactive protein, pentraxin-related FLJ20442 1q23.1 hypothetical protein FLJ20442 LOC343413 1q23.1 similar to Fc receptor homolog expressed in B cells; Fc receptor related protein X SLAMF8 1q23.1 SLAM family member 8 LOC391123 1 similar to hypothetical protein A030011M19 NESG1 1q22 similar to hypothetical protein A030011M19 TAGLN2 1q22 transgelin 2 IGSF9 1q22-q23 immunoglobulin superfamily, member 9 SLAMF9 1q23.1 SLAM family member 9 LOC391124 1 similar to ribosomal protein L27a; ribosomal protein L29 homolog (yeast) PIGM 1q22 phosphatidylinositol glycan, class M KCNJ10 1q22 potassium inwardly-rectifying channel, subfamily J, member 10 KCNJ9 1q22 potassium inwardly-rectifying channel, subfamily J, member 9 IGSF8 1q23.1 immunoglobulin superfamily, member 8 ATP1A2 1q22 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide ATP1A4 1q22 ATPase, Na+/K+ transporting, alpha 4 polypeptide CASQ1 1q22 calsequestrin 1 (fast-twitch, skeletal muscle) PEA15 1q22 phosphoprotein enriched in astrocytes 15 H326 1q22-q23 H326 LOC388707 1 hypothetical gene supported by BC005391; NM_002295 COPA 1q22 coatomer protein complex, subunit alpha PXF 1q22 peroxisomal farnesylated protein NCSTN 1q22 peroxisomal farnesylated protein NHLH1 1q22 nescient helix loop helix 1 VANGL2 1q22 vang-like 2 (van gogh, Drosophila) SLAMF6 1q23.1 SLAM family member 6 CD84 1q22-q23 CD84 antigen (leukocyte antigen) SLAMF1 1q21.3-1q23.2 signaling lymphocytic activation molecule family member 1 CD48 1q23 CD48 antigen (B-cell membrane protein)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 5323 - 379 - 2009 19420365
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnervestibule   Mus musculus
    Nervousbrain     Homo sapiens
     spinal cord    
    Urinarykidneytubulecollecting duct highly Homo sapiens
     kidneytubuleconvoluted tubule highly Homo sapiens
    Visualeyeanterior segmentcornea   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Epithelialsensoryvisual  
    Nervouscentralgray matter  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumepithelial cell Mus musculus
    Nervousastrocyte Homo sapiens
    Nervousglia Homo sapiens
    Nervousoligodendrocyte Homo sapiens
    Visualepithelial cell Homo sapiens
    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 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