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FLASH GENE
Symbol KCNC2 contributors: mct - updated : 26-10-2016
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 2
HGNC id 6234
Location 12q21.1      Physical location : 75.433.896 - 75.603.511
Synonym name
  • Shaw-related voltage-gated potassium channel protein 2
  • Kv3.2d voltage-gated potassium channel
  • Synonym symbol(s) KV3.2, MGC138196
    DNA
    TYPE functioning gene
    STRUCTURE 170.74 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3572 - 613 - Haas
    5 - 5512 - 638 - Haas
    5 - 3407 - 558 - Haas
    5 - 3477 - 629 - -
    4 - 5347 - 583 - -
    5 - 6084 - 618 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    Nervousbrainforebraincerebral cortex   Mus musculusFetal
     brainforebraincerebral cortex   Mus musculusAdult
     brainlimbic systemhippocampus   Mus musculusFetal
     brainlimbic systemhippocampus   Mus musculusAdult
    Olfactory (smell)olfactory bulb     Mus musculusAdult
    Reproductivemale systemprostate   
    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
  • mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to murine Kv3.2
    homolog to Drosophila Shaw-related family
    Homologene
    FAMILY
  • potassium channel family
  • c (shaw) subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • KCNC2, CACNA1G regulate thalamic relay neuron sensory transmission and each channel subtype controls a different stimulus-response curve property
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    of KCNC2 and ATXN7L3B, leading to neurodevelopmental delay and cerebellar ataxia
    constitutional     --low  
    could play a role in the cognitive symptoms of Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS