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FLASH GENE
Symbol SCN7A contributors: mct - updated : 16-01-2008
HGNC name sodium channel, voltage-gated, type VII, alpha
HGNC id 10594
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 5727 - 1682 - Goldin (2000)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainhindbraincerebellum  
 braindiencephalonhypothalamus  
 nerve    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatum  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four transmembrane domains of homology, each with six alpha helical membrane spanning segments, and two cytoplasmic loops
  • HOMOLOGY
    Homologene
    FAMILY sodium channel family
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in the integration of synaptic input in the CNS
  • mediates the voltage-dependent sodium ion permeability of excitable membranes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component protein constituent of membrane
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DLG1 contributes to the stabilization of SCN7A at the plasma membrane
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS