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SCN2B Gene

protein-coding   GIFtS: 60
GCID: GC11M118033

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

(Previous names: sodium channel, voltage-gated, type II, beta polypeptide,...)
  See SCN2B-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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Aliases
Sodium Channel, Voltage-Gated, Type II, Beta Subunit1 2     Neuronal Voltage-Gated Sodium Channel Beta 2 Subunit2
Sodium Channel, Voltage-Gated, Type II, Beta Polypeptide1 2     Sodium Channel Beta 2 Subunit2
ATFB142 5     Sodium Channel Subunit Beta-22
Sodium Channel, Voltage-Gated, Type II, Beta1     

External Ids:    HGNC: 105891   Entrez Gene: 63272   Ensembl: ENSG000001495757   OMIM: 6013275   UniProtKB: O609393   

Export aliases for SCN2B gene to outside databases

Previous GC identifers: GC11M120392 GC11M119545 GC11M118070 GC11M117573 GC11M117542 GC11M113967


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SCN2B Gene:
SCN2B (sodium channel, voltage-gated, type II, beta subunit) is a protein-coding gene. Diseases associated with SCN2B include atrial fibrillation, familial, 14, and weill-marchesani-like syndrome. 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 MPZL2.

UniProtKB/Swiss-Prot: SCN2B_HUMAN, O60939
Function: Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the
sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into
microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium
channels at nodes of Ranvier (By similarity)

summary for SCN2B 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 SCN2B 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 at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCN2B gene promoter:
         HEN1   S8   AML1a   Pax-2   c-Myb   Pax-2a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN2B promoter sequence
   Search Chromatin IP Primers for SCN2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCN2B


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

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

SCN2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN2B gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M118033:  view genomic region     (about GC identifiers)

Start:
118,032,666 bp from pter      End:
118,047,388 bp from pter
Size:
14,723 bases      Orientation:
minus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: SCN2B_HUMAN, O60939 (See protein sequence)
Recommended Name: Sodium channel subunit beta-2 precursor  
Size: 215 amino acids; 24326 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, beta-3 and/or beta-4 subunits. Beta-1 and beta-3 are non-covalently associated
with alpha, while beta-2 and beta-4 are covalently linked by disulfide bonds (By similarity)
Secondary accessions: O75302 Q9UNN3

Explore the universe of human proteins at neXtProt for SCN2B: NX_O60939

Explore proteomics data for SCN2B at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn42, Asn66, Asn74
  • Modification sites at PhosphoSitePlus

  • See SCN2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004579.1  
    ENSEMBL proteins: 
     ENSP00000278947  
    Reactome Protein details: O60939

    SCN2B Human Recombinant Protein Products:

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

    5 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR000920 Myelin_P0

    Graphical View of Domain Structure for InterPro Entry O60939

    ProtoNet protein and cluster: O60939

    2 Blocks protein domains:
    IPB003599 Immunoglobulin subtype
    IPB013106 Immunoglobulin V-set


    UniProtKB/Swiss-Prot: SCN2B_HUMAN, O60939
    Similarity: Belongs to the sodium channel auxiliary subunit SCN2B (TC 8.A.17) family
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain


    Find genes that share domains with SCN2B           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SCN2B_HUMAN, O60939
    Function: Crucial in the assembly, expression, and functional modulation of the heterotrimeric complex of the
    sodium channel. The subunit beta-2 causes an increase in the plasma membrane surface area and in its folding into
    microvilli. Interacts with TNR may play a crucial role in clustering and regulation of activity of sodium
    channels at nodes of Ranvier (By similarity)

         Genatlas biochemistry entry for SCN2B:
    sodium voltage-gated channel,type II,auxilliary subunit beta homolog to rat contactin,involved in the initiation
    and conduction of electrical impulses in nerves,highly similar to myelin protein zero may be involved in
    demyelinating diseases,CMT2B excluded

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005248voltage-gated sodium channel activity ----
    GO:0005515protein binding ----
    GO:0017080sodium channel regulator activity IDA19808477
    GO:0086006voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP19808477
         
    Find genes that share ontologies with SCN2B           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SCN2B:
     Decreased cell number  Increased viability after born 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Scn2b):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with SCN2B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SCN2B: Scn2btm1Lex Scn2btm1Isom

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN2B
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    hsa-miR-3194-5p hsa-miR-605 hsa-miR-938 hsa-miR-374a hsa-miR-138-2* hsa-miR-519a hsa-miR-3921 hsa-miR-502-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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
    SCN2B_HUMAN, O60939: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular3
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex TAS9295116

    Find genes that share ontologies with SCN2B           About GenesLikeMe


    (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 SCN2B 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
    5Synaptic transmission ion currents
    Synaptic transmission ion currents


    Find genes that share SuperPaths with SCN2B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SCN2B (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 SCN2B
        Interaction between L1 and Ankyrins

    1 PharmGKB Pathway for SCN2B
        Antiarrhythmic Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN2B: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SCN2B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for SCN2B (ENSP000002789474) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCN3AENSP000002832544STRING: ENSP00000283254
    SCN4BENSP000003224604STRING: ENSP00000322460
    SCN1BENSP000003969154STRING: ENSP00000396915
    SCN3BENSP000002993334STRING: ENSP00000299333
    SCN5AENSP000003289684STRING: ENSP00000328968
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS9295116
    GO:0007399nervous system development IEA--
    GO:0035725sodium ion transmembrane transport IDA19808477
    GO:0046684response to pyrethroid IEA--
    GO:0060048cardiac muscle contraction IMP19808477

    Find genes that share ontologies with SCN2B           About GenesLikeMe



    (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 SCN2B 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 SCN2B    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    1 DrugBank Compound for SCN2B    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SCN2B gene: 
    NM_004588.4  

    Unigene Cluster for SCN2B:

    Sodium channel, voltage-gated, type II, beta subunit
    Hs.129783  [show with all ESTs]
    Unigene Representative Sequence: NM_004588
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000278947(uc001psf.2)
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    Additional mRNA sequence: 

    AF007783.1 AF049498.1 AF107028.1 AK090729.1 AK094643.1 AK308834.1 AK313891.1 AY358945.1 
    BC036793.1 BT019487.1 U87555.1 

    3 DOTS entries:

    DT.111015  DT.100663446  DT.120729655 

    Selected AceView cDNA sequences (see all 67):

    CR595040 F05475 BX953034 CR625871 BX953079 F09443 AK090729 BQ574152 
    T30988 T30974 BQ185043 F01737 AA453662 F01743 BX440990 AK094643 
    Z42211 F11793 AL523291 F27136 AA447729 AA092284 BX105393 AW957660 

    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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    SCN2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTCTCTG
    SCN2B Expression
    About this image

    SCN2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.129783

    UniProtKB/Swiss-Prot: SCN2B_HUMAN, O60939
    Tissue specificity: Brain specific

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN2B: 
              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 SCN2B

    (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 SCN2B gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn2b1 , 5 sodium channel, voltage-gated, type II, beta1, 5 87.75(n)1
    92.09(a)1
      9 (24.84 cM)5
    728211  NM_001014761.21  NP_001014761.11 
     451178765 
    chicken
    (Gallus gallus)
    Aves SCN2B1 sodium channel, voltage-gated, type II, beta subunit 77.05(n)
    72.56(a)
      419776  XM_417914.4  XP_417914.3 
    lizard
    (Anolis carolinensis)
    Reptilia SCN2B6
    sodium channel, voltage-gated, type II, beta subun...
    66(a)
    1 ↔ 1
    GL343767.1(132001-144099)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia scn2b1 sodium channel, voltage-gated, type II, beta subunit 65.7(n)
    63.29(a)
      100144663  NM_001123431.2  NP_001116903.2 
    zebrafish
    (Danio rerio)
    Actinopterygii scn2b1 sodium channel, voltage-gated, type II, beta 60.33(n)
    53.66(a)
      777666  NM_001077629.1  NP_001071097.1 


    ENSEMBL Gene Tree for SCN2B (if available)
    TreeFam Gene Tree for SCN2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCN2B gene
    MPZL22  MPZ2  MPZL32  MPZL12  SCN4B2  
    1 SIMAP similar gene for SCN2B using alignment to 2 protein entries:     SCN2B_HUMAN (see all proteins):
    MPZL2

    Find genes that share paralogs with SCN2B           About GenesLikeMe



    (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 SCN2B (see all 413)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171218191,2,,4
    CAtrial fibrillation, familial, 14 (ATFB14)4 --118039455(-) CAGGAC/TGGAGC 2 R W mis1 ese32Minor allele frequency- T:0.00NA 5292
    VAR_0702294
    Atrial fibrillation, familial, 14 (ATFB14)4--see VAR_0702292 R Q mis40--------
    rs669176251,2
    C--113968095(+) GAAAG-/TCAG  
            
    CCGAC
    1 -- ut310--------
    rs1877325931,2
    --113982930(+) AGCCTC/TCCAAG 1 -- us2k10--------
    rs746744951,2
    C--118033059(+) GGCAGA/GCTCTG 1 -- ds50013Minor allele frequency- G:0.10WA EA 240
    rs792694331,2
    C--118033072(+) CAGCTG/CTCATC 1 -- ds50013Minor allele frequency- C:0.10WA EA 240
    rs1467797471,2
    --118033178(+) ACAGGA/CAACAT 1 -- ds50010--------
    rs1826272441,2
    C--118033186(+) CATCCG/TCATGA 1 -- ds50010--------
    rs1405470601,2
    C--118033395(+) CCTCAC/GATGCT 1 -- ds50010--------
    rs1456860401,2
    --118033415(+) GCAGCA/GCCAAT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for SCN2B (118032666 - 118047388 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SCN2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519116CNV Loss19592680
    nsv898412CNV Gain21882294
    dgv1318n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): SCN2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCN2B
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN2B

    (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: 601327   
    OMIM disorders: 615378  
    UniProtKB/Swiss-Prot: SCN2B_HUMAN, O60939
  • Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378]: 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
  • Note=Genetic variations in SCN2B may be involved in Brugada syndrome (PubMed:23559163). This
    tachyarrhythmia is 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

  • 4 diseases for SCN2B:    
    About MalaCards
    atrial fibrillation, familial, 14    weill-marchesani-like syndrome    rasmussen encephalitis    atrial fibrillation, familial, 9

    2 diseases from the University of Copenhagen DISEASES database for SCN2B:
    Epilepsy syndrome     Brugada syndrome

    Find genes that share disorders with SCN2B           About GenesLikeMe

    Genetic Association Database (GAD): SCN2B
    Human Genome Epidemiology (HuGE) Navigator: SCN2B (7 documents)

    Export disorders for SCN2B 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 SCN2B gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with SCN2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A missense mutation in the sodium channel I^2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. (PubMed id 23559163)1, 2 RiurA^ H....Brugada R. (Hum. Mutat. 2013)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    6. Evolution and diversity of mammalian sodium channel genes. (PubMed id 10198179)1, 3 Plummer N.W. and Meisler M.H. (Genomics 1999)
    7. Exclusion of the SCN2B gene as candidate for CMT4B. (PubMed id 9887383)1, 2 Bolino A.... Devoto M. (Eur. J. Hum. Genet. 1998)
    8. Structure and chromosomal localization of the beta2 subunit of the human brain sodium channel. (PubMed id 9295116)1, 2 Eubanks J....Catterall W.A. (NeuroReport 1997)
    9. Genome-Wide Association Study of Pre-Eclampsia Detects Novel Maternal Single Nucleotide Polymorphisms and Copy-Number Variants in Subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study Cohort. (PubMed id 23551011)1 Zhao L....Dewan A.T. (Ann. Hum. Genet. 2013)
    10. Identification of the cysteine residue responsible for disulfide linkage of Na+ channel alpha and beta2 subunits. (PubMed id 22992729)2 Chen C.... Isom L.L. (J. Biol. Chem. 2012)

    (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: 6327 HGNC: 10589 AceView: SCN2B Ensembl:ENSG00000149575 euGenes: HUgn6327
    ECgene: SCN2B H-InvDB: SCN2B

    (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 SCN2B 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 SCN2B gene:
    Search GeneIP for patents involving SCN2B

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



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