Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KCNQ2 contributors: mct - updated : 27-09-2011
HGNC name potassium voltage-gated channel, KQT-like subfamily, member 2
HGNC id 6296
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