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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
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