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FLASH GENE
Symbol SCN3B contributors: mct - updated : 15-09-2010
HGNC name sodium channel, voltage-gated, type III, beta
HGNC id 20665
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one immunoglobulin-like C2 type domain
    • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • modulating channel gating kinetics, and causing unique persistent sodium currents
  • mediating a Tp53-dependent apoptotic pathway
  • temporal lobe epilepsy-regulated gene
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • association with neurofascin may target the sodium channels to the nodes of ranvier of developing axons and retain these channels at the nodes in mature myelinated axons
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BRGS7 , ATFB12
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in human cancer cell lines by DNA damaging agents, as well as by overexpression of Tp53
    constitutional     --other  
    altered expression might influence microcircuitry in the hippocampus, affecting excitability and contributing to epileptogenesis in non-hippocampal sclerosis patients (van Gassen 2009)
    Susceptibility to atrial fibrillation
    Variant & Polymorphism other A130V mutant SCN3B negated the function of wild type SCN3B, suggesting that A130V acts by a dominant negative mechanism in atrial fibrillation
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Scn3b(-/-) hearts demonstrated significantly longer sinus node recovery times than WT hearts (Hakim 2009)