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SCN4B Gene

protein-coding   GIFtS: 56
GCID: GC11M118004

Sodium Channel, Voltage-Gated, Type IV, Beta Subunit

(Previous names: sodium channel, voltage-gated, type IV, beta)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Sodium Channel, Voltage-Gated, Type IV, Beta Subunit1 2
Sodium Channel, Voltage-Gated, Type IV, Beta1
LQT102
Navbeta42
Sodium Channel Subunit Beta-42

External Ids:    HGNC: 105921   Entrez Gene: 63302   Ensembl: ENSG000001770987   OMIM: 6082565   UniProtKB: Q8IWT13   
ORGUL members:         

Export aliases for SCN4B gene to outside databases

Previous GC identifers: GC00U990339 GC11U900020 GC11M118038 GC11M117541 GC11M117509 GC11M113937


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SCN4B Gene:
The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with
voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms
interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10).
Three protein-coding and one non-coding transcript variant have been found for this gene.(provided by RefSeq, Mar
2009)

GeneCards Summary for SCN4B Gene:
SCN4B (sodium channel, voltage-gated, type IV, beta subunit) is a protein-coding gene. Diseases associated with SCN4B include long qt syndrome 10, and timothy syndrome. GO annotations related to this gene include ion channel binding and voltage-gated sodium channel activity. An important paralog of this gene is MPZL2.

UniProtKB/Swiss-Prot: SCN4B_HUMAN, Q8IWT1
Function: Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of
certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the
suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone
venom

summary for SCN4B Gene:
Voltage-gated sodium channels (NaV) are responsible for action potential initiation and propagation in
excitable cells, including nerve, muscle, and neuroendocrine cell types. They are also expressed at low
levels in non-excitable cells, where their physiological role is unclear. Structurally, Nav channels are
composed of one pore-forming alpha-subunit, which may be associated with either one or more beta-subunits.
alpha-subunits are composed for four homologous domains, each of which contains six transmembrane segments.
The fourth transmembrane loop (S4) acts as the 'voltage sensor' and is activated by changes in membrane
potential. S4 is also involved in channel gating.

Gene Wiki entry for SCN4B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCN4B gene promoter:
         AREB6   HEN1   NF-1/L   NF-1   p300   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN4B promoter sequence
   Search Chromatin IP Primers for SCN4B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCN4B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

SCN4B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN4B gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M118004:  view genomic region     (about GC identifiers)

Start:
118,004,092 bp from pter      End:
118,023,630 bp from pter
Size:
19,539 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for SCN4B

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SCN4B_HUMAN, Q8IWT1 (See protein sequence)
Recommended Name: Sodium channel subunit beta-4 precursor  
Size: 228 amino acids; 24969 Da
Subunit: Component of the voltage-sensitive sodium channel complex that consists of an ion-conducting pore-forming
alpha subunit and one or more regulatory beta subunits. Heterooligomer with SCN2A; disulfide-linked
2 PDB 3D structures from and Proteopedia for SCN4B:
4MZ2 (3D)        4MZ3 (3D)    
Secondary accessions: E9PPT5 Q6PIG5
Alternative splicing: 3 isoforms:  Q8IWT1-1   Q8IWT1-2   Q8IWT1-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for SCN4B: NX_Q8IWT1

Explore proteomics data for SCN4B at MOPED

Post-translational modifications: 

  • Contains an interchain disulfide bond with SCN2A1
  • N-glycosylated1
  • Glycosylation2 at Asn45, Asn71, Asn113
  • Modification sites at PhosphoSitePlus

  • See SCN4B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001135820.1  NP_001135821.1  NP_777594.1  

    ENSEMBL proteins: 
     ENSP00000322460   ENSP00000436343  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SC: Sodium channels
    VSET: Immunoglobulin superfamily / V-set domain containing

    4 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q8IWT1

    ProtoNet protein and cluster: Q8IWT1

    UniProtKB/Swiss-Prot: SCN4B_HUMAN, Q8IWT1
    Similarity: Belongs to the sodium channel auxiliary subunit SCN4B (TC 8.A.17) family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    SCN4B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCN4B_HUMAN, Q8IWT1
    Function: Modulates channel gating kinetics. Causes negative shifts in the voltage dependence of activation of
    certain alpha sodium channels, but does not affect the voltage dependence of inactivation. Modulates the
    suceptibility of the sodium channel to inhibition by toxic peptides from spider, scorpion, wasp and sea anemone
    venom

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005248voltage-gated sodium channel activity IDA12930796
    GO:0005515protein binding ----
    GO:0017080sodium channel regulator activity IDA17592081
    GO:0044325ion channel binding IPI17592081
    GO:0086006voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP17592081
         
    SCN4B for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN4B
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    hsa-let-7d hsa-miR-15a hsa-miR-139-5p hsa-miR-3916 hsa-miR-570 hsa-miR-890 hsa-let-7g hsa-miR-124
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SCN4B_HUMAN, Q8IWT1: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex IMP--
    GO:0005886plasma membrane ----
    GO:0014704intercalated disc ISS--
    GO:0031226intrinsic component of plasma membrane IDA--

    SCN4B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SCN4B About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    3G-Beta Gamma Signaling
    GHRH Signaling0.46
    4SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    5Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SCN4B (see all 7)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    PKA Signaling
    cAMP Pathway
    Aldosterone Signaling in Epithelial Cells

    1 BioSystems Pathway for SCN4B
        SIDS Susceptibility Pathways

    1 PharmGKB Pathway for SCN4B
        Antiarrhythmic Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for SCN4B):
        Adrenergic signaling in cardiomyocytes


    SCN4B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCN4B
    Interactions:

        Search GeneGlobe Interaction Network for SCN4B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for SCN4B (Q8IWT13 ENSP000003224604) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCN2AQ992503, ENSP000002832564I2D: score=1 STRING: ENSP00000283256
    SCN2BENSP000002789474STRING: ENSP00000278947
    SCN3AENSP000002832544STRING: ENSP00000283254
    SCN1BENSP000003969154STRING: ENSP00000396915
    SCN3BENSP000002993334STRING: ENSP00000299333
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport IDA12930796
    GO:0010765positive regulation of sodium ion transport IDA17592081
    GO:0035725sodium ion transmembrane transport IDA--
    GO:0060048cardiac muscle contraction IMP17592081
    GO:0060307regulation of ventricular cardiac muscle cell membrane repolarization IMP17592081

    SCN4B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for SCN4B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Phrixotoxin 3 Potent modulator of NaV1.2, NaV1.3 and NaV1.5 channels [880886-00-0]
    QX 314 chlorideNa+ channel blocker[5369-03-9]
    VeratridineVoltage-gated Na+ channel opener[71-62-5]
    TetrodotoxinNa+ channel blocker[4368-28-9]
    Tetrodotoxin citrateNa+ channel blocker. Citrate salt of tetrodotoxin (Cat. No. 1078)[18660-81-6]

    1 HMDB Compound for SCN4B    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SCN4B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 14704463 19557119 18433351 20001433 15511691 19948168



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SCN4B gene (3 alternative transcripts): 
    NM_001142348.1  NM_001142349.1  NM_174934.3  

    Unigene Cluster for SCN4B:

    Sodium channel, voltage-gated, type IV, beta subunit
    Hs.65239  [show with all ESTs]
    Unigene Representative Sequence: NM_174934
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415030(uc010rxu.2) ENST00000324727(uc001pse.3 uc010rxv.2)
    ENST00000423160 ENST00000531550 ENST00000529878 ENST00000532138
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    hsa-let-7d hsa-miR-15a hsa-miR-139-5p hsa-miR-3916 hsa-miR-570 hsa-miR-890 hsa-let-7g hsa-miR-124
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    Additional mRNA sequence: 

    AK090713.1 AK092285.1 AK124886.1 AK314531.1 AY149967.1 BC035017.2 BX538328.1 NR_024527.1 

    6 DOTS entries:

    DT.100748920  DT.91753667  DT.406411  DT.120708672  DT.120708673  DT.120708658 

    Selected AceView cDNA sequences (see all 32):

    BF958146 AW026241 BM994844 AK092285 BX476617 AK090713 AK124886 CB154973 
    BC035017 AI031852 BX538328 BM804757 BG702981 BM547731 NM_174934 BI836997 
    R22665 AY149967 BF946242 T33438 BF943961 BI755908 BV170797 T15604 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SCN4B (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e
    SP1:              -     -                             -                                             
    SP2:                                                  -                                             
    SP3:                                      -     -     -                                             
    SP4:        -     -     -                             -                                             
    SP5:                                                                                                


    ECgene alternative splicing isoforms for SCN4B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SCN4B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTATTCCT
    SCN4B Expression
    About this image

    SCN4B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN4B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65239

    UniProtKB/Swiss-Prot: SCN4B_HUMAN, Q8IWT1
    Tissue specificity: Expressed at a high level in dorsal root ganglia, at a lower level in brain, spinal cord,
    skeletal muscle and heart

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN4B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SCN4B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn4b1 , 5 sodium channel, type IV, beta1, 5 83.19(n)1
    79.39(a)1
      9 (24.84 cM)5
    3995481  NM_001013390.21  NP_001013408.11 
     451384375 
    chicken
    (Gallus gallus)
    Aves SCN4B1 sodium channel, voltage-gated, type IV, beta subunit 70.41(n)
    60.2(a)
      419774  XM_004948114.1  XP_004948171.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCN4B6
    sodium channel, voltage-gated, type IV, beta subun...
    70(a)
    1 ↔ 1
    AAWZ02039089(5202-7733)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686792 hypothetical protein MGC68679 71.3(n)    BC060028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii scn4ba1 sodium channel, voltage-gated, type IV, beta a 59.15(n)
    50.26(a)
      566069  NM_001077570.1  NP_001071038.1 


    ENSEMBL Gene Tree for SCN4B (if available)
    TreeFam Gene Tree for SCN4B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCN4B gene
    MPZL22  SCN2B2  MPZ2  MPZL32  MPZL12  

    SCN4B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SCN4B (see all 446)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0434884
    Long QT syndrome 10 (LQT10)4--see VAR_0434882 L F mis40--------
    rs801098511,2
    C,F--117867306(+) CATATC/ACCCAG 4 -- ds50011Minor allele frequency- A:0.15EA 120
    rs791656961,2
    C,F--117867347(+) CACCCG/TGAAAC 4 -- ds50011Minor allele frequency- T:0.07EA 120
    rs1415716131,2
    C--117867355(+) AACTC-/TTTGGAA 4 -- ds50010--------
    rs714821291,2
    C,F--117867369(+) TAGGCG/ATTCAT 4 -- ds50013Minor allele frequency- A:0.05NA 124
    rs1462460391,2
    --117867422(+) AAGGAC/GAGAGT 4 -- ds50010--------
    rs1387754751,2
    C--117867588(+) GTGAA-/TGTGCCA 4 -- ds50010--------
    rs794112361,2
    C,F--117867613(+) AGTTTG/ACCTGT 4 -- ds50011Minor allele frequency- A:0.14EA 120
    rs1391820741,2
    --117867617(+) TGCCTA/GTGTTA 4 -- ds50010--------
    rs1852782731,2
    --117867626(+) TATTTC/TACCTA 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for SCN4B (118004092 - 118023630 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SCN4B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519116CNV Loss19592680
    nsv898412CNV Gain21882294
    dgv1318n71CNV Gain21882294
    nsv468878CNV Gain19166990

    Human Gene Mutation Database (HGMD): SCN4B
    Locus Specific Mutation Databases (LSDB): SCN4B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCN4B
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN4B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608256   
    OMIM disorders: 611819  
    UniProtKB/Swiss-Prot: SCN4B_HUMAN, Q8IWT1
  • Long QT syndrome 10 (LQT10) [MIM:611819]: A heart disorder characterized by a prolonged QT interval on
    the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or
    emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 16 diseases for SCN4B:    
    About MalaCards
    long qt syndrome 10    timothy syndrome    paroxysmal extreme pain disorder    erythromelalgia
    long qt syndrome 1    long qt syndrome    congenital heart block    pain disorder
    syncope    brugada syndrome    sudden infant death syndrome    purpura
    cholera    multiple myeloma    myeloma    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for SCN4B:
    Timothy syndrome     Brugada syndrome     Long QT syndrome     Congenital heart block

    SCN4B for disorders           About GeneDecksing

    Genetic Association Database (GAD): SCN4B
    Human Genome Epidemiology (HuGE) Navigator: SCN4B (4 documents)

    Export disorders for SCN4B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SCN4B gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with SCN4B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystallographic insights into sodium-channel modulation by the beta4 subunit. (PubMed id 24297919)1, 2 Gilchrist J.... Bosmans F. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    2. Mutations in sodium channel I^1- and I^2-subunits associated with atrial fibrillation. (PubMed id 19808477)1, 4 Watanabe H....Roden D.M. (Circ Arrhythm Electrophysiol 2009)
    3. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. (PubMed id 17592081)1, 2 Medeiros-Domingo A.... Ackerman M.J. (Circulation 2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2. (PubMed id 12930796)1, 2 Yu F.H.... Curtis R. (J. Neurosci. 2003)
    6. Mutations of the SCN4B-encoded sodium channel I^4 subunit in familial atrial fibrillation. (PubMed id 23604097)1 Li R.G....Yang Y.Q. (Int. J. Mol. Med. 2013)
    7. A voltage-gated sodium channel is essential for the positive selection of CD4(+) T cells. (PubMed id 22842345)1 Lo W.L....Allen P.M. (Nat. Immunol. 2012)
    8. Mutations in sodium channel I^-subunit SCN3B are associated with early-onset lone atrial fibrillation. (PubMed id 21051419)1 Olesen M.S....Svendsen J.H. (Cardiovasc. Res. 2011)
    9. Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents. (PubMed id 21115638)1 Theile J.W....Cummins T.R. (J. Physiol. (Lond.) 2011)
    10. Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. (PubMed id 20226894)1 Tan B.H....Ackerman M.J. (Heart Rhythm 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6330 HGNC: 10592 AceView: SCN4B Ensembl:ENSG00000177098 euGenes: HUgn6330
    ECgene: SCN4B Kegg: 6330 H-InvDB: SCN4B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SCN4B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SCN4B gene:
    Search GeneIP for patents involving SCN4B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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