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FLASH GENE
Symbol SCN2B contributors: mct/ - updated : 13-09-2023
HGNC name sodium channel, voltage-gated, type II, beta
HGNC id 10589
Corresponding disease
ATFB14 atrial fibrillation, familial, 14
Location 11q23.3      Physical location : 118.033.518 - 118.047.337
Synonym name
  • sodium channel, voltage-gated, type II, beta polypeptide
  • neuronal voltage-gated sodium channel beta 2 subunit
    • Synonym symbol(s) ATFB14, Nav2.2, Navbeta2
    DNA
    TYPE functioning gene
    STRUCTURE 13.82 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4922 24.2 215 - 1995 8521473
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousbrain    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal large extracellular domain containing a Ig-V type fold with a disulfide bond and four N-linked glycosylation sites
  • a single transmembrane segment
  • a short intracytoplasmic C terminal tail
    • HOMOLOGY
    interspecies homolog to rattus contactin (with human auxilliary subunit beta)
    intraspecies homolog to myelin protein zero, highly
    Homologene
    FAMILY
  • sodium channel auxiliary subunit SCN2B family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • sodium channel, voltage-gated, type II,involved in the initiation and conduction of electrical impulses in nerves
  • could play an important role in the aging-related cognitive deterioration
  • associates with lipid rafts by S-palmitoylation
  • involved in maintaining normal physiological functions of the prefrontal cortex and hippocampus, might be associated with prefrontal cortex aging and memory decline
  • plays crucial roles in the repair of neuronal injury induced by Abeta1-42
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • protein constituent of membrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • N-linked glycosylation of SCNB2 is required for surface localization of SCN5A, a property that is often defective in inherited cardiac arrhythmias
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATFB14
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    age-down regulated in the frontal cortex
    Susceptibility
  • to atrial fibrillation
  • to idiopathic epilepsy
    • Variant & Polymorphism SNP
  • R28Q, R28W associated with atrial fibrillation (Watanabe 2009)
  • rs602594 associated with idiopathic epilepsy
    • Candidate gene for Brugada syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Scn2b in mice results in ventricular and atrial arrhythmias, consistent with reported SCN2B mutations in human patients