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FLASH GENE
Symbol KCNT2 contributors: mct/ - updated : 20-01-2015
HGNC name potassium channel, subfamily T, member 2
HGNC id 18866
Corresponding disease
EIEE57 epileptic encephalopathy, early infantile, 57
Location 1q31.3      Physical location : 196.194.912 - 196.577.499
Synonym name
  • sequence like an intermediate conductance K channel
  • sodium and chloride activated ATP sensitive potassium channel
  • Synonym symbol(s) KCa4.2, SLICK, SLO2.1, MGC119610, MGC119611, MGC119612, MGC119613, RP11-58O13.1
    DNA
    TYPE functioning gene
    STRUCTURE 382.78 kb     28 Exon(s)
    MAPPING cloned N linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 5975 - 1135 - 2003 14684870
    27 - 5774 - 1068 - 2003 14684870
    27 - 5903 - 1111 - 2003 14684870
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Endocrineneuroendocrinepituitary  predominantly
    Hearing/Equilibrium innercochlea highly
    Nervousbrain   highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six predicted transmembrane domains
  • a P (pore) region between predicted transmembrane domains 5 and 6
  • numerous PKC and cAMP-dependent PKC phosphorylation sites
  • a large C-terminal region containing a PDZ-binding motif, two RCK domains, an ATP-binding domain, and specific lysines that are involved in INPP5J binding
  • HOMOLOGY
    interspecies homolog to rattus Kcnt2 (97.5 pc)
    homolog to murine Kcnt2 (97.5 pc)
    Homologene
    FAMILY
  • SLO family of high-conductance potassium channels
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in potassium ion transport
  • KCNT2, KCNT1 may contribute to the resting potentials of cells and control their basal level of excitability
  • regulate the accuracy of timing of auditory neurons
  • KCNT2, KCNT1 control basal excitability and are involved in cell volume regulation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    PATHWAY
    metabolism
    signaling
    a component
  • KCNT1 and KCNT2 subunits coassemble to form heteromeric channels that differ from the homomers in their unitary conductance, kinetic behavior, subcellular localization, and response to activation of protein kinase C
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
  • INPP5J is in addition a novel regulator of the activity of KCNT1 and KCNT2 channels
  • cell & other
    REGULATION
    activated by intracellular Na+ and Cl-
    inhibited by intracellular ATP
    Other KCNT2 channels are not inhibited by intracellular ATP
    ASSOCIATED DISORDERS
    corresponding disease(s) EIEE57
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS