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SCN1B Gene

protein-coding   GIFtS: 62
GCID: GC19P035521

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

(Previous names: sodium channel, voltage-gated, type I, beta polypeptide,...)
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(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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Aliases
Sodium Channel, Voltage-Gated, Type I, Beta Subunit1 2     Sodium Channel, Voltage-Gated, Type I, Beta1
ATFB132 5     Sodium Channel, Voltage-Gated, Type I, Beta Polypeptide1
BRGDA52 5     Sodium Channel Beta-1 Subunit2
GEFSP12 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SCN1B Gene:
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)

GeneCards Summary for SCN1B Gene:
SCN1B (sodium channel, voltage-gated, type I, beta subunit) is a protein-coding gene. Diseases associated with SCN1B include early onset absence epilepsy, and scn1b-related cardiac conduction defect, nonspecific. GO annotations related to this gene include voltage-gated sodium channel activity involved in cardiac muscle cell action potential and sodium channel regulator activity. An important paralog of this gene is SCN3B.

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 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 SCN1B 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_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   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 Chromatin IP Primers for SCN1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 cytogenetic band: 19q13.12

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:
35,521,588 bp from pter      End:
35,531,353 bp from pter
Size:
9,766 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.)
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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)
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

Explore proteomics data for SCN1B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn93, Asn110, Asn114, Asn135
  • Modification sites at PhosphoSitePlus

  • See SCN1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000262631   ENSP00000468848   ENSP00000396915  
    Reactome Protein details: Q07699

    SCN1B Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SCN1B
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    Novus Biologicals SCN1B Lysate
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    Browse Proteins at Cloud-Clone Corp.

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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
    SCN: Voltage-gated ion channels / Sodium channels
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing
    VSET: Immunoglobulin superfamily / V-set domain containing

    3 InterPro protein domains:
     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


    SCN1B 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: 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

         Gene Ontology (GO): Selected molecular function terms (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 cardiac muscle cell action potential IMP19808477
         
    SCN1B for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Scn1b):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  no phenotypic analysis 
     normal  vision/eye 

    SCN1B for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SCN1B: Scn1btm2.1Isom Scn1btm1Isom

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN1B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCN1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCN1B

    miRNA
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    miRTarBase miRNAs that target SCN1B:
    hsa-mir-296-3p (MIRT038411), hsa-mir-335-5p (MIRT016821), hsa-mir-210-3p (MIRT047007)

    Block miRNA regulation of human, mouse, rat SCN1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCN1B (see all 26):
    hsa-miR-3607-3p hsa-miR-4311 hsa-miR-185* hsa-miR-137 hsa-miR-1914* hsa-miR-16-1* hsa-miR-4299 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidSCN1B 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SCN1B
    Predesigned siRNA for gene silencing in human, mouse, rat SCN1B

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SCN1B (NM_001037)
    Sino Biological Human cDNA Clone for SCN1B
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SCN1B

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN1B


    (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
    SCN1B_HUMAN, Q07699: Membrane; Single-pass type I membrane protein
    SCN1B_HUMAN, Q07699: Isoform 2: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex IDA19808477
    GO:0005576extracellular region IEA--
    GO:0014704intercalated disc ISS--
    GO:0030315T-tubule ISS--
    GO:0033268node of Ranvier ISS--

    SCN1B 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 SCN1B About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4G-Beta Gamma Signaling
    GHRH Signaling0.46
    5Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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


    1 Reactome Pathway for SCN1B
        Interaction between L1 and Ankyrins

    1 PharmGKB Pathway for SCN1B
        Antiarrhythmic Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for SCN1B):
        Adrenergic signaling in cardiomyocytes


    SCN1B for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN1B: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SCN1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected 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
    SYT1P215793, ENSP000002612054I2D: score=1 STRING: ENSP00000261205
    SYT2Q8N9I03, ENSP000003562364I2D: score=1 STRING: ENSP00000356236
    ANK3Q129553, ENSP000002807724I2D: score=2 STRING: ENSP00000280772
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002028regulation of sodium ion transport ----
    GO:0006814sodium ion transport ----
    GO:0007155cell adhesion IEA--
    GO:0007268synaptic transmission TAS9697698
    GO:0007411axon guidance TAS--

    SCN1B 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 SCN1B 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 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 inferred 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)



    SCN1B for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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 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
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262631(uc002nxp.3 uc010xsg.2) ENST00000595652 ENST00000415950(uc002nxo.2)
    ENST00000596348 ENST00000602150

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    Selected qRT-PCR Assays for microRNAs that regulate SCN1B (see all 26):
    hsa-miR-3607-3p hsa-miR-4311 hsa-miR-185* hsa-miR-137 hsa-miR-1914* hsa-miR-16-1* hsa-miR-4299 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidSCN1B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat SCN1B
      QuantiFast Probe-based Assays in human, mouse, rat SCN1B

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 72):

    AI633649 BI755159 BC030193 AY391842 NM_001037 AI492816 BM930937 CA448248 
    T29303 BC067122 BF725125 BQ185614 NM_199037 BQ187895 R53503 BM545270 
    F08214 BI754689 AA295926 BC021266 BQ446734 BX102041 BI602763 L16242 

    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™, 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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    SCN1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATAAAGAC
    SCN1B Expression
    About this image


    SCN1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Left Ventricle
    SCN1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN1B Protein Expression

    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN1B: 
              Neuronal Ion Channels in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SCN1B
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    QuantiFast Probe-based Assays in human, mouse, rat SCN1B
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SCN1B gene from Selected species (see all 9)    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
    sodium channel, voltage-gated, type I, beta subuni...
    39(a)
    1 ↔ 1
    GL343514.1(20921-56511)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia scn1b1 sodium channel, voltage-gated, type I, beta subunit 64.54(n)
    62.25(a)
      101734970  XM_004916411.1  XP_004916468.1 
    zebrafish
    (Danio rerio)
    Actinopterygii scn1ba1 sodium channel, voltage-gated, type I, beta a 60.97(n)
    56.28(a)
      555423  NM_001077539.3  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)
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    Paralogs for SCN1B gene
    SCN3B2  
    1 SIMAP similar gene for SCN1B using alignment to 4 protein entries:     SCN1B_HUMAN (see all proteins):
    SCN3B

    SCN1B 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 SCN1B (see all 241)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048947181,2,,4
    CGeneralized epilepsy with febrile seizures plus 1 (GEFS+1)4 pathogenic135524558(+) GAGTGC/G/TCACGT 4 C W mis10--------
    VAR_0702204
    Atrial fibrillation, familial, 13 (ATFB13)4--see VAR_0702202 D N mis40--------
    VAR_0702194
    Atrial fibrillation, familial, 13 (ATFB13)4--see VAR_0702192 R H mis40--------
    VAR_0673414
    Generalized epilepsy with febrile seizures plus 1 (GEFS+1)4--see VAR_0673412 R L mis40--------
    rs674862871,2
    Cunknown135524944(+) CCAAAG/CGGTTG 3 /T /R int1 mis16Minor 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

    HapMap Linkage Disequilibrium report for SCN1B (35521588 - 35531353 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SCN1B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911613CNV Loss21882294
    dgv3848n71CNV Loss21882294
    nsv911610CNV Loss21882294

    Human Gene Mutation Database (HGMD): SCN1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600235   
    OMIM disorders: 604233  612838  615377  
    UniProtKB/Swiss-Prot: SCN1B_HUMAN, Q07699
  • Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233]: 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. This disease
    combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial
    seizures, with a variable degree of severity. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Brugada syndrome 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, the individual will
    faint and may die in a few minutes if the heart is not reset. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A familial form of atrial fibrillation, a common
    sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical
    activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling.
    It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for SCN1B (see all 34):    
    About MalaCards
    early onset absence epilepsy    scn1b-related cardiac conduction defect, nonspecific    brugada syndrome    generalized epilepsy with febrile seizures plus
    scn1b-related generalized epilepsy with febrile seizures plus    cardiac conduction defect, nonspecific    atrial fibrillation, familial, 13    brugada syndrome 5
    epilepsy, generalized, with febrile seizures plus, type 1    brugada syndrome 3    myoclonic epilepsy of infancy    cardiac conduction defect
    scn1a-related seizure disorders    seizure disorder    dravet syndrome    febrile seizures
    heart block, progressive, type ia    epilepsy, generalized, with febrile seizures plus, type 3    brugada syndrome 1    epilepsy syndrome

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

    SCN1B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    9 Novoseek inferred 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)
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    PubMed articles for SCN1B gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with SCN1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies. (PubMed id 19522081)1, 2, 4, 9 Orrico A....Sorrentino V. (Clin. Genet. 2009)
    2. 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. (Hum. Mol. Genet. 1993)
    3. Febrile seizures and generalized epilepsy associated with a mutation in the Na(+)-channel beta-1 subunit gene SCN1B. (PubMed id 9697698)1, 2, 4, 9 Wallace R.H.... Mulley J.C. (Nat. Genet. 1998)
    4. Mutations in sodium channel I^1- and I^2-subunits associated with atrial fibrillation. (PubMed id 19808477)1, 2, 4 Watanabe H....Roden D.M. (Circ Arrhythm Electrophysiol 2009)
    5. A novel microsatellite polymorphism of sodium channel beta1-subunit gene (SCN1B) may underlie abnormal cardiac excitation manifested by coved-type ST-elevation compatible with Brugada syndrome in Japanese. (PubMed id 20137763)1, 4, 9 Ogawa R....Echizen H. (Int J Clin Pharmacol Ther 2010)
    6. 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. (Genomics 1994)
    7. 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. (J. Biomed. Sci. 2005)
    8. Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance. (PubMed id 19270815)1, 4, 9 Jang S.Y....Kim Y.S. (J. Korean Med. Sci. 2009)
    9. A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. (PubMed id 18755274)1, 4, 9 Ohmori I....Matsui H. (Neurobiol. Dis. 2008)
    10. 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. (Eur. J. Neurol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6324 HGNC: 10586 AceView: SCN1B Ensembl:ENSG00000105711 euGenes: HUgn6324
    ECgene: SCN1B Kegg: 6324 H-InvDB: SCN1B

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SCN1B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SCN1B[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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