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FLASH GENE
Symbol SCN5A contributors: mct - updated : 04-09-2013
HGNC name sodium channel, voltage-gated, type V, alpha subunit
HGNC id 10593
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane domains (4TM) of homology, each with six alpha helical membrane spanning segments
  • two cytoplasmic loops
  • dinucleotide repeat polymorphism
  • one IQ domain
  • C-terminus with a PY-motif (xPPxY) acting as binding site for Nedd4/Nedd4-like ubiquitin-protein ligases
  • HOMOLOGY
    interspecies homolog to murine Scn5a
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • SCN5A and DLG1 are both localized at intercalated discs
  • localizes at lateral membranes of cardiomyocytes with dystrophin and syntrophin
  • basic FUNCTION
  • sodium voltage-gated channel, type V, tetradotoxin-resistant, playing a critical role for heart excitability and conduction
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • SNTA1-based NOS1 complex attached to SCN5A is a key regulator of sodium current
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with NEDD4L (acting on SCN5A by decreasing the channel density at the cell surface)
  • interacting with TCAP
  • TBX5 drives SCN5A expression to regulate cardiac conduction system function
  • GJA1 associates with SCN5A in the cardiomyocyte perinexus
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LQT3 , PCCD2 , PCCD1 , SSS1 , CMD1E , BRGS1
    related resource Congenital Long QT Syndrome at GeneDis
    Gene Connection for the Heart
    Long QT Syndrome Database
    Susceptibility to cardiac arrhythmia and sudden death
    Variant & Polymorphism SNP , other
  • Y1102 and H558R allele increasing risk of arrhythmia
  • SNP S1103Y associated with cardiac arrhythmia and sudden death
  • rs11720524 located in intron 1 in SCN5A remained significantly associated with sudden/arrhythmic death
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS