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FLASH GENE
Symbol SCN3A contributors: mct - updated : 18-12-2018
HGNC name sodium channel, voltage-gated, type III, alpha
HGNC id 10590
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane domains of homology,each with six alpha helical membrane spanning segments,and two cytoplasmic loops
  • one IQ domain
  • C-terminal residue that regulates the kinetics and voltage dependence of fast inactivation in sodium channels, possibly via a charge-dependent interaction with the inactivation linker (Nguyen 2010)
  • HOMOLOGY
    interspecies homolog to murine Scn3a
    intraspecies homolog to SCN2A1
    Homologene
    FAMILY
  • sodium channel gene family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • neuronal channel that are essential for the initiation and propagation of action potentials in the CNS and PNS (Meisler 2010)
  • with SCN2A, and SCN9A, likely account for the tetrodotoxin-sensitive sodium currents in taste receptor cells (Gao 2009)
  • play crucial roles in the initiation and propagation of action potentials and are important regulators of neuronal excitability
  • may be involved in the generation of epileptic activity in Focal cortical dysplasia (FCD)type IIb
  • SCN3A- dependent electrical excitability and its contribution to (5-hydroxytryptamine, 5-HT) release is a novel mechanism of enterochromaffin (EC) cell function
  • unexpected role of SCN3A in progenitor cells and migrating neurons
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    synaptic transmission
    a component
  • protein constituent of membrane
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL2Q24 , EIEE62 , FFEV4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    of SCN3A caused by reduced protein expression or deficient trafficking to the plasma membrane may contribute to increased seizure susceptibility
    Susceptibility to epilepsy
    Variant & Polymorphism other mutation linked to epilepsy increases ramp and persistent current of SCN3A and induces hyperexcitability in hippocampal neurons (Holland 2008)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS