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FLASH GENE
Symbol SCN2A contributors: mct - updated : 19-05-2008
HGNC name sodium channel, voltage-gated, type II, alpha subunit
HGNC id 10588
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane domains (4TM) of homology
  • each with six alpha helical membrane spanning segments
  • two cytoplasmic loops
    • secondary structure a glycosylated 260kDa alpha subunit and two beta subunits (36 and 33kDa)
    mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY
  • sodium channel family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a fundamental role in controling electrical excitability during development and plasticity
  • with SCN3A, and SCN9A, likely account for the tetrodotoxin-sensitive sodium currents in taste receptor cells (Gao 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BFNIS , DEL2Q24 , EIEE11
    Susceptibility to autism
    Variant & Polymorphism SNP variant R1902C in SCN2A is located in the calmodulin binding site and was found to reduce binding affinity for calcium-bound calmodulin, and associated to autism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS