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FLASH GENE
Symbol KCNC2 contributors: mct - updated : 12-06-2024
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 2
HGNC id 6234
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) DEE103
    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