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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SCN1B Gene

protein-coding   GIFtS: 57
GCID: GC19P035521

sodium channel, voltage-gated, type I, beta subunit

(Previous names: sodium channel, voltage-gated, type I, beta polypeptide,...)
 Explore 25 diseases affiliated with
SCN1B via our new
 Human Malady Compendium 
Biological research products
for SCN1B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sodium Channel, Voltage-Gated, Type I, Beta Subunit1 2
GEFSP12 5
Sodium Channel, Voltage-Gated, Type I, Beta1
Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide1
Sodium Channel Beta-1 Subunit2
Sodium Channel Subunit Beta-12

External Ids:    HGNC: 105861   Entrez Gene: 63242   Ensembl: ENSG000001057117   OMIM: 6002355   UniProtKB: Q076993   

Export aliases for SCN1B gene to outside databases

Previous GC identifers: GC19P036139 GC19P035970 GC19P040197 GC19P040213 GC19P032031


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SCN1B:
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action
potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit
provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a
sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus,
Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have
been found for this gene.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699
Function: Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium
channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its
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
Function: Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during
brain development. Stimulates neurite outgrowth

summary for SCN1B:
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 SCN1B


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SCN1B gene promoter:
         Elk-1   AML1a   POU3F1   Lmo2   XBP-1   Nkx2-5   GATA-2   CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN1B promoter sequence
   Search SABiosciences Chromatin IP Primers for SCN1B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SCN1B


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.12   HGNC chromosome: 19

SCN1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN1B gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P035521:  view genomic region     (about GC identifiers)

Start:
35,521,592 bp from pter      End:
35,531,353 bp from pter
Size:
9,762 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699 (See protein sequence)
Recommended Name: Sodium channel subunit beta-1 precursor  
Size: 218 amino acids; 24707 Da
Subunit: The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one
or more beta-1, beta-2 and beta-3. Beta-1 and beta-3 are non-covalently associated with alpha, while beta-2 is
covalently linked by disulfide bonds. Beta-1 or beta-3 subunits associate with neurofascin. Associates with SCN10A (By
similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Subcellular location: Isoform 2: Secreted
Secondary accessions: Q5TZZ4 Q6TN97
Alternative splicing: 2 isoforms:  Q07699-1   Q07699-2   (Due to intron 3 retention)

Explore the universe of human proteins at neXtProt for SCN1B: NX_Q07699

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q07699

  • SCN1B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001028.1  NP_950238.1  

    ENSEMBL proteins: 
     ENSP00000262631   ENSP00000396915  
    Reactome Protein details: Q07699
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex IDA--
    GO:0005576extracellular region IEA--
    GO:0014704intercalated disc ISS--
    GO:0030315T-tubule ISS--
    GO:0033268node of Ranvier ISS--


    SCN1B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SCN1B for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR013783 Ig-like_fold
     IPR013151 Immunoglobulin
     IPR027098 Na_channel_b1/b3

    Graphical View of Domain Structure for InterPro Entry Q07699

    ProtoNet protein and cluster: Q07699

    UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699
    Similarity: Belongs to the sodium channel auxiliary subunit SCN1B (TC 8.A.17) family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699
    Function: Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the sodium
    channel. The subunit beta-1 can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart. Its
    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
    Function: Isoform 2: Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during
    brain development. Stimulates neurite outgrowth

         Genatlas biochemistry entry for SCN1B:
    sodium voltage-gated channel,type I,beta 1 subunit,expressed in brain,skeletal muscle,heart,required for normal
    inactivation kinetics of the Na+ channel

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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005248voltage-gated sodium channel activity IDA14622265
    GO:0005515protein binding ----
    GO:0017080sodium channel regulator activity IDA18464934
    GO:0019871sodium channel inhibitor activity ISS17884088
    GO:0086006voltage-gated sodium channel activity involved in regulation of cardiac muscle cell action potential IMP19808477


    SCN1B for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SCN1B: Scn1btm2.1Isom Scn1btm1Isom
         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Scn1b):
     behavior/neurological  growth/size  mortality/aging  nervous system  no phenotypic analysis 
     normal  vision/eye 

    SCN1B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Axon guidance
    Axon guidance1.00
    L1CAM interactions0.39
    Developmental Biology0.69
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA1.00
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons1.00
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins1.00
    5Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SCN1B (see all 7)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    PKA Signaling
    cAMP Pathway
    Aldosterone Signaling in Epithelial Cells

    4        Reactome Pathways for SCN1B
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Axon guidance

    1 PharmGKB Pathway for SCN1B
        Antiarrhythmic Pathway, Pharmacodynamics


    SCN1B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCN1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for SCN1B (Q076993 ENSP000003969154) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CNTN1Q128603, ENSP000003256604I2D: score=1 STRING: ENSP00000325660
    NFASCO948563, ENSP000003531544I2D: score=1 STRING: ENSP00000353154
    ANK3Q129553, ENSP000002807724I2D: score=2 STRING: ENSP00000280772
    SYT1P215793I2D: score=1 
    SYT2Q8N9I03I2D: score=1 
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003254regulation of membrane depolarization ----
    GO:0007155cell adhesion IEA--
    GO:0007268synaptic transmission TAS9697698
    GO:0007411axon guidance TAS--
    GO:0010765positive regulation of sodium ion transport IDA19808477


    SCN1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SCN1B for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SCN1B available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ralfinamide mesylateNa+ channel blocker[202825-45-4]
    VinpocetineNa+ channel blocker[42971-09-5]
    QX 314 chlorideNa+ channel blocker[5369-03-9]
    Flecainide acetateCardiac Na+ channel blocker. Antiarrhythmic[54143-56-5]
    Tetrodotoxin citrateNa+ channel blocker. Citrate salt of tetrodotoxin (Cat. No. 1078)[18660-81-6]

    1 HMDB Compound for SCN1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SCN1B    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 14704463 19557119 18433351 20001433 15511691 19948168

    3 Novoseek chemical compound relationships for SCN1B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 72.3 45 11422459 (2), 20137763 (2), 10923035 (2), 8666261 (2) (see all 33)
    potassium 20.6 3 16038283 (1), 11579435 (1)
    calcium 0 1 15520326 (1)

    Search CenterWatch for drugs/clinical trials and news about SCN1B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SCN1B gene (2 alternative transcripts): 
    NM_001037.4  NM_199037.3  

    Unigene Cluster for SCN1B:

    Sodium channel, voltage-gated, type I, beta subunit
    Hs.436646  [show with all ESTs]
    Unigene Representative Sequence: BC112922
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262631(uc002nxp.3 uc010xsg.2) ENST00000415950(uc002nxo.2)


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    Additional cDNA sequence: 

    AK295477.1 AK313279.1 AY391842.1 BC021266.2 BC067122.1 BC112922.1 BT019923.1 L10338.1 
    L16242.1 

    7 DOTS entries:

    DT.75189547  DT.443914  DT.75114175  DT.121613012  DT.75102189  DT.95268894  DT.99950036 

    24/72 AceView cDNA sequences (see all 72):

    AI492816 BC030193 BM930937 BQ185614 NM_199037 AY391842 AI633649 BI755159 
    NM_001037 BF725125 R53503 BC067122 BQ187895 CA448248 T29303 BM805468 
    BQ446734 BU688918 AA505435 BP362210 AA295926 L16242 BC021266 BP348762 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SCN1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATAAAGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SCN1B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCN1B

    SOURCE GeneReport for Unigene cluster: Hs.436646

    UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699
    Tissue specificity: The overall expression of isoforms 1 and 2 is very similar. Isoform 1 is abundantly expressed in
    skeletal muscle, heart and brain. Isoform 2 is highly expressed in brain and skeletal muscle and present at a very low
    level in heart, placenta, lung, liver, kidney and pancreas. In brain, isoform 2 is most abundant in the cerebellum,
    followed by the cerebral cortex and occipital lobe, while isoform 1 levels are higher in the cortex compared to the
    cerebellum. Isoform 2 is expressed in many regions of the brain, including cerebellar Purkinje cells, cortex pyramidal
    neurons and many of the neuronal fibers throughout the brain (at protein level). Also detected in dorsal root
    ganglion, in fibers of the spinal nerve and in cortical neurons and their processes (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Array including SCN1B: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN1B

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SCN1B gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn1b1 , 5 sodium channel, voltage-gated, type I, beta1, 5 89.14(n)1
    96.33(a)1
      7 (19.30 cM)5
    202661  NM_011322.21  NP_035452.11 
     311165255 
    lizard
    (Anolis carolinensis)
    Reptilia SCN1B6
    --
    39(a)
    1 ↔ 1
    GL343514.1(27714-34776)
    zebrafish
    (Danio rerio)
    Actinopterygii scn1ba1 sodium channel, voltage-gated, type I, beta a 60.97(n)
    56.28(a)
      555423  NM_001077539.2  NP_001071007.1 


    ENSEMBL Gene Tree for SCN1B (if available)
    TreeFam Gene Tree for SCN1B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCN1B gene
    SCN3B2  
    1 SIMAP similar gene for SCN1B using alignment to 5 protein entries:     SCN1B_HUMAN (see all proteins):
    SCN3B

    SCN1B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/176 NCBI SNPs in SCN1B are shown (see all 176    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048947181,2
    C,pathogenic35524558(+) GAGTGC/G/TCACGT 6 C W mis1 syn10--------
    rs674862871,2
    C,unknown35524944(+) CCAAAG/CGGTTG 3 /T /R mis1 int16Minor allele frequency- C:0.12CSA WA NA EA 1772
    rs1174099351,2
    F,--35519613(+) CAAGGT/GGCAAG 2 -- us2k11Minor allele frequency- G:0.02NA 120
    rs1456572001,2
    --35519762(+) CAAGCA/GATTCT 2 -- us2k10--------
    rs1473285491,2
    --35519879(+) GTCTCA/GATCTC 2 -- us2k10--------
    rs1406647601,2
    --35519952(+) GCGCCC/TGGCCT 2 -- us2k10--------
    rs760877921,2
    C,--35520065(+) CTCAGC/TCTCCC 2 -- us2k12Minor allele frequency- T:0.20NA 122
    rs1112414701,2
    C,F,--35520073(+) CCCAAG/ATAACT 2 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs1512655031,2
    --35520092(+) AGGTGC/TCCACC 2 -- us2k10--------
    rs1404911651,2
    --35520164(+) GGCTGA/GTCTCG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SCN1B (35521592 - 35531353 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SCN1B: --
    Human Gene Mutation Database (HGMD): SCN1B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SCN1B
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SCN1B for disorders           About GeneDecksing

    OMIM gene information: 600235   
    OMIM disorders: 604233  612838  
    UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699
  • Defects in SCN1B are the cause of generalized epilepsy with febrile seizures plus type 1 (GEFS+1)
  • [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, familial condition
    with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes
    beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures,
    generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree
    of severity
  • Defects in SCN1B are the cause of Brugada syndrome type 5 (BRGDA5) [MIM:612838]. A tachyarrhythmia
  • characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the
    ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation
    occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not
    reset

    20/25 diseases for SCN1B (see all 25):    About MalaCards
    generalized epilepsy with febrile seizures plus    febrile seizures    brugada syndrome 5    generalized epilepsy
    brugada syndrome    cardiac conduction defect, nonspecific    severe myoclonic epilepsy of infancy (smei)    seizures
    early onset absence epilepsy    cardiac conduction defect    sudden infant death syndrome    dravet syndrome
    absence epilepsy    temporal lobe epilepsy    long qt syndrome    idiopathic generalized epilepsy
    convulsions    atrial fibrillation    neuronitis    conduction disease

    5 diseases from the University of Copenhagen DISEASES database for SCN1B:
    Idiopathic generalized epilepsy     Dravet Syndrome     Brugada syndrome     Focal epilepsy
    Early onset absence epilepsy

    9 Novoseek disease relationships for SCN1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy generalized 94.6 17 14738422 (2), 10587582 (1), 11263970 (1), 11690625 (1) (see all 14)
    seizures febrile 93.3 25 14738422 (2), 17020904 (2), 10587582 (1), 11263970 (1) (see all 20)
    epilepsies myoclonic 81.3 2 16806834 (1), 16302874 (1)
    dravet syndrome 80.5 2 19710327 (2), 16302874 (1)
    familial benign neonatal convulsions 76.5 2 10896263 (1), 11579435 (1)
    epilepsy 72.5 18 17020904 (2), 18175077 (1), 19270815 (1), 19522081 (1) (see all 13)
    absence seizures 64.9 3 14504340 (3)
    epilepsy frontal lobe 55.1 2 10896263 (1), 11579435 (1)
    epilepsy temporal lobe 45 1 17020904 (1)

    Genetic Association Database (GAD): SCN1B
    Human Genome Epidemiology (HuGE) Navigator: SCN1B (14 documents)

    Export disorders for SCN1B 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)
    About This Section

    PubMed articles for SCN1B gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with SCN1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. (PubMed id 8394762)1, 2, 3, 9 McClatchey A.I.... Gusella J.F. (1993)
    2. Genomic organization and chromosomal assignment of the human voltage- gated Na+ channel beta 1 subunit gene (SCN1B). (PubMed id 7851891)1, 2, 9 Makita N....George A.L. Jr. (1994)
    3. Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children. (PubMed id 16205844)1, 4, 9 Haider M.Z....Al-Bloushi M. (2005)
    4. Mutational analysis of the SCN1A, SCN1B and GABRG2 ge nes in 150 Italian patients with idiopathic childhood epilepsies. (PubMed id 19522081)1, 2, 9 Orrico A....Sorrentino V. (2009)
    5. Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. (PubMed id 9697698)1, 2, 9 Wallace R.H.... Mulley J.C. (1998)
    6. New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. (PubMed id 21040232)1, 2 Fendri-Kriaa N.... Fakhfakh F. (2011)
    7. Voltage-gated Na+ channel I^1B: a secreted cell adhesi on molecule involved in human epilepsy. (PubMed id 21994374)1, 2 Patino G.A....Isom L.L. (2011)
    8. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. (PubMed id 18464934)1, 2 Watanabe H.... Bezzina C.R. (2008)
    9. 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. (2004)
    10. Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit. (PubMed id 14622265)1, 2 Qin N.... Correa A.M. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 6324 HGNC: 10586 AceView: SCN1B Ensembl:ENSG00000105711 euGenes: HUgn6324
    ECgene: SCN1B H-InvDB: SCN1B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SCN1B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SCN1B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SCN1B gene:
    Search GeneIP for patents involving SCN1B

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



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