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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
    Physical map
    C20orf51 20q13.33 chromosome 20 open reading frame 51 C20orf21 20q13.33 chromosome 20 open reading frame 21 BIRC7 20q13.3 baculoviral IAP repeat-containing 7 (livin) C20orf58 20q13.33 chromosome 20 open reading frame 58 ARFGAP1 20q13.33 ADP-ribosylation factor GTPase activating protein 1 KIAA1510 20q13.33 KIAA1510 protein CHRNA4 20q13.2-q13.3 cholinergic receptor, nicotinic, alpha polypeptide 4 KCNQ2 20q13.3 potassium voltage-gated channel, KQT-like subfamily, member 2 EEF1A2 20q13.3 eukaryotic translation elongation factor 1 alpha 2 LOC149659 20q13.33 hypothetical LOC149659 C20orf149 20q13.33 chromosome 20 open reading frame 149 PTK6 20q13.3 PTK6 protein tyrosine kinase 6 SRMS 20q13.33 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites MGC5356 20q13.33 hypothetical protein MGC5356 PRIC285 20q13.33 peroxisomal proliferator-activated receptor A interacting complex 285 LOC200213 20q13.33 hypothetical protein LOC200213 GMEB2 20q13.33 glucocorticoid modulatory element binding protein 2 LOC388807 20 LOC388807 STMN3 20q13.3 stathmin-like 3 C20orf41 20q13.3 chromosome 20 open reading frame 41
    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