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FLASH GENE
Symbol KCNC3 contributors: mct - updated : 25-08-2011
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 3
HGNC id 6235
DNA
TYPE functioning gene
STRUCTURE 13.00 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineparathyroid    
Lymphoid/Immunelymph node    
Nervousbraindiencephalonthalamusnucleihighly Homo sapiens
Reproductivefemale systemuterus   
Respiratoryrespiratory tractlarynx   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral  highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six putative membrane-spanning domains
  • an hydrophobic pore including the P domain with the K+ channel signature, flanked by TM domains 5 and 6, sensitive to changes in membrane potential
  • a segment s4 is probably the voltage-sensor and characterized by a series of positively charged amino acids at every third position
  • a tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
    • HOMOLOGY
    interspecies homolog to murine Kv3.3
    homolog to Drosophila Shaw-related family
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heterotetramer of potassium channel proteins
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by BMP2 that significantly (>2-fold) upregulated mRNA expression of KCNC3
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep