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FLASH GENE
Symbol KCNQ2 contributors: mct - updated : 27-09-2011
HGNC name potassium voltage-gated channel, KQT-like subfamily, member 2
HGNC id 6296
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six membrane spanning domains
  • an hydrophobic pore (Ploop), flanked by TM domains five and six sensitive to changes in membrane potential
    • conjugated PhosphoP
    mono polymer heteromer , polymer
    HOMOLOGY
    interspecies homolog to murine Kcnq2
    Homologene
    FAMILY
  • potassium channel family
  • KQT subfamily
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing an important role in the regulation of neuronal excitability
  • 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
  • acting as a Ca2+ sensor
  • KCNQ2/3 channels could be an important regulator in neuronal apoptosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
  • M channel constituent (coassembling with KCNQ3)
  • heteromultimer with KCNQ3 (ORKCNE2)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • targeted to the axon initial segment of hippocampal neurons by association with ankyrin G
    • cell & other
    REGULATION
    repressed by REST, which is known to suppress KCNQ2 expression
    Other trafficking is regulated by calmodulin binding to the c-terminal A and B helices
    ASSOCIATED DISORDERS
    corresponding disease(s) EBN1 , EIEE7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    substantial downregulation of its expression in neuropathic injury
    Susceptibility to idiopathic epilepsy
    Variant & Polymorphism SNP missense variant p.Pro574Ser detected in idiopathic epilepsy
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS