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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
Corresponding disease
ATFB12 atrial fibrillation, familial, 12
BRGS7 Brugada syndrome 7
Location 11q24.1      Physical location : 123.499.894 - 123.525.315
Synonym name voltage-gated sodium channel auxiliary beta-3 subunit
Synonym symbol(s) HSA243396, SCNB3, KIAA1158, Na(v)beta3
DNA
TYPE functioning gene
STRUCTURE 25.42 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Binding site
text structure two putative p53-binding sites upstream of the first exon (RE1) and in the third intron (RE2)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 5682 24.7 215 - Mehrle (2006)
6 - 6081 24.7 215 - Mehrle (2006)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheartatrium  highly
Endocrinepancreas    
Nervousbrainforebrain  highly
 braindiencephalonamygdala  
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumcardiac highly
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Muscularmyocyte
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eye, brain
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)