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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
Corresponding disease
EBN1 benign familial neonatal convulsions, 1
EIEE7 epileptic encephalopathy, early infantile, 7
Location 20q13.33      Physical location : 62.037.541 - 62.103.993
Synonym name
  • neuroblastoma-specific potassium channel protein
  • voltage-gated potassium channel subunit Kv7.2
  • KQT-like 2
  • Synonym symbol(s) BFNC, ENB1, HNSPC, KV7.2, KCNA11, KVEBN1, EBN
    DNA
    TYPE functioning gene
    STRUCTURE 66.45 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text four alternatively spliced isoforms in brain (PMID: 9827540)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 3251 95 872 - 2007 17475800
    isoform a
    16 splicing 3197 - 854 - 2007 17475800
    isoform b
    8 splicing 1425 - 393 adult brain lowly, testis, fetal brain highly, brain tumors 2007 17475800
    isoform e
    15 splicing 3167 - 844 adult and fetal brain 2007 17475800
    isoform c
    16 splicing 3158 - 841 - 2007 17475800
    isoform d
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral lobetemporal 
    nervousbrainbasal nucleiputamen  
    Nervousbraindiencephalonhypothalamus  
     brainforebraincerebral cortex  
     brainhindbraincerebellumcerebellar cortex 
     gangliasensory gangliadorsal root highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text brain
    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