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FLASH GENE
Symbol KCNQ3 contributors: mct/npt/pgu - updated : 15-07-2008
HGNC name potassium voltage-gated channel, KQT-like subfamily, member 3
HGNC id 6297
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six membrane spanning domains
  • an hydrophobic pore (Ploop), flanked by TM domains 5 and 6, sensitive to changes in membrane potential
    • HOMOLOGY
    Homologene
    FAMILY
  • potassium channel family
  • KQT subfamily
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • located in or toward the apical membrane of the cells
    • basic FUNCTION
  • potassium voltage-gated channel, playing a critical role in the regulation of neuronal excitability
  • member of axonal Kv7 channels that are critically and uniquely required for determining the inherent spontaneous firing of hippocampal CA1 pyramids, independently of alterations in synaptic activity
  • role of a number of KCNQ channel members in controlling basal anion secretion in the airway epithelium
  • KCNQ2/3 channels could be an important regulator in neuronal apoptosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • M channel constituent (coassembling with KCNQ2 and KCNQ5)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targeted to the axon initial segment of hippocampal neurons by association with ankyrin G
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBN2 , EJM2
    Susceptibility to idiopathic epilepsy
    Variant & Polymorphism SNP missense variant p.Pro574Ser was detected in idiopathic epilepsy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS