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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
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheartatrium   
Reproductivefemale systemovary   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumcardiacmyocardium  Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Muscularmyocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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