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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
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