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FLASH GENE
Symbol SCN4B contributors: mct/npt - updated : 11-09-2009
HGNC name sodium channel, voltage-gated, type IV, beta
HGNC id 10592
Location 11q23.3      Physical location : 118.004.093 - 118.023.630
DNA
TYPE functioning gene
STRUCTURE 19.44 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
DSCAML1 11q23 Down syndrome cell adhesion molecule like 1 FXYD2 11q23,3 FXYD domain containing ion transport regulator 2 FXYD6 11q23.3 FXYD domain containing ion transport regulator 6 MSP 11q23 mosaic serine protease IL10RA 11q23.3 interleukin 10 receptor, alpha TMPRSS4 11q23.3 transmembrane protease, serine 4 SCN4B 11q23.3 sodium channel, voltage-gated, type IV, beta SCN2B 11q23 sodium channel, voltage-gated, type II, beta AMICA 11q23.3 adhesion molecule AMICA LOC196264 11q23.3 hypothetical protein LOC196264 EVA1 11q24 epithelial V-like antigen 1 CD3E 11q23.3 CD3E antigen, epsilon polypeptide (TiT3 complex) LOC390254 11 similar to carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5; N-acetylglucosamine 6-O-sulfotransferase; I-GLCNAC-6-ST CD3D 11q23.3 CD3D antigen, delta polypeptide (TiT3 complex) CD3G 11q23.3 CD3G antigen, gamma polypeptide (TiT3 complex) UBE4A 11q23.3 ubiquitination factor E4A (UFD2 homolog, yeast) ATP5L 3q27 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit g MGC13053 11q23.3 hypothetical protein MGC13053 MLL 11q23 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) FLJ11783 11q23.3 hypothetical protein FLJ11783 LOC143941 11q23.3 similar to CDNA sequence BC021608 FLJ14399 11q23.3 hypothetical protein FLJ14399 FLJ21827 11q23.3 hypothetical protein FLJ21827 ARCN1 11q23.3 archain 1 KIAA0638 11q23.3 archain 1 TREH 11q23.3 trehalase (brush-border membrane glycoprotein) DDX6 11q23.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 4177 - 94 - Medeiros-Domingo (2007)
4 - 4516 - 118 - Medeiros-Domingo (2007)
5 - 4579 - 228 - Medeiros-Domingo (2007)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain    
 spinal cord    
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal signal peptide
  • a single transmembrane alpha helix
  • an extracellular domain with a single immunoglobulin-like fold, both necessary and sufficient for the modulation of Na(+) channel gating (McCormick 1999)
  • a small intracellular domain
  • conjugated GlycoP
    mono polymer heteromer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • could alter the channel properties of SCN4A
  • has little effect on the channel kinetics of cardiac SCN5A
  • may affect both protein-protein interactions and physiological functions of several sodium channel alpha subunits
  • play a critical role in regulation of neuronal excitability (Ferreira 2006)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may interact with SCN4A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    a missense mutation cosegegating with LQTS in a 3-generation pedigree (Medeiros-Domingo et al,2007)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS