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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
Physical map
LOC341056 11q24.1 similar to SUMO-1 activating enzyme subunit 1; SUMO-1 activating enzyme E1 N subunit; sentrin/SUMO-activating protein AOS1; ubiquitin-like protein SUMO-1 activating enzyme HSPA8 11q23.3-q25 heat shock 70kDa protein 8 LOC85391 11q23.3-q25 RNA, small nucleolar ASAM 11q24.1 adipocyte-specific adhesion molecule LOC283157 11q24.1 similar to RIKEN cDNA A930008A22 KIAA1201 11q24.1 KIAA1201 protein SCN3B 11q23.3 sodium channel, voltage-gated, type III, beta ZNF202 11q23.3 zinc finger protein 202 LOC390260 11 similar to Olfactory receptor 6X1 LOC390261 11 similar to Olfactory receptor 6M1 LOC390262 11 similar to Olfactory receptor 6M1 LOC390263 11 similar to Olfactory receptor 6M1 LOC338661 11q24.1 hypothetical LOC338661 LOC338662 11q24.1 similar to Olfactory receptor 8D4 LOC219875 11q24.1 similar to Olfactory receptor 4D5 LOC219874 11q24.1 similar to Olfactory receptor 6T1 LOC219873 11q24.1 similar to Olfactory receptor 10S1 OR10G6P 11q25 olfactory receptor, family 10, subfamily G, member 6 pseudogene OR10G5P 11q25 olfactory receptor, family 10, subfamily G, member 5 pseudogene LOC390264 11 similar to Olfactory receptor 10G4 LOC219870 11q24.2 similar to Olfactory receptor 10G9 LOC219869 11q24.2 similar to Olfactory receptor 10G8 LOC390265 11 similar to Olfactory receptor 10G7 OR10D5P 11q25 olfactory receptor, family 10, subfamily D, member 5 pseudogene LOC390266 11 similar to Olfactory receptor 10D4 LOC390267 11 similar to odorant receptor M30 LOH11CR2A 11q22-q24 loss of heterozygosity, 11, chromosomal region 2, gene A LOC390268 11 similar to seven transmembrane helix receptor OR10D3P 11 olfactory receptor, family 10, subfamily D, member 3 pseudogene
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)