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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
Corresponding disease
BFNIS benign familial neonatal-infantile seizures
DEL2Q24 chromosome 2 interstitial deletion, including sub-band 2q24.3
EIEE11 epileptic encephalopathy, early infantile, 11
Location 2q22-q24      Physical location : 166.095.911 - 166.248.818
Synonym name
  • sodium channel,brain type 2 alpha subunit
  • sodium channel, voltage-gated, type II, alpha 1
  • sodium channel, voltage-gated, type II, alpha 2 polypeptide
  • Synonym symbol(s) SCN2A1, HBSCI, NAC2, SCN2A2, Nav1.2, HBSCII
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster, head to head, opposite orientation
    text
  • oriented head to head with SCN3A
  • voltage-gated sodium channel gene cluster on chromosome 2q24
  • STRUCTURE 153.00 kb     27 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 8810 228 2005 - Black (2007)
    - - 8571 228 2005 - Black (2007)
    - - 8876 228 2005 - Black (2007)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Respiratorylung    
    Urinarykidney    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text cochlea
    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