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SCN8A Gene

protein-coding   GIFtS: 62
GCID: GC12P051987

Sodium Channel, Voltage Gated, Type VIII, Alpha Subunit

(Previous names: sodium channel, voltage gated, type VIII, alpha polypeptide)
(Previous symbol: MED)
  See SCN8A-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 VIII, Alpha Subunit1 2     NaCh62
MED1 2 3     Nav1.62
Voltage-Gated Sodium Channel Subunit Alpha Nav1.62 3     PN42
CIAT2 5     HNa6/Scn8a Voltage-Gated Sodium Channel2
EIEE132 5     Sodium Channel Protein Type 8 Subunit Alpha2
Sodium Channel, Voltage Gated, Type VIII, Alpha Polypeptide1     Sodium Channel Protein Type VIII Subunit Alpha3
CERIII2     

External Ids:    HGNC: 105961   Entrez Gene: 63342   Ensembl: ENSG000001968767   OMIM: 6007025   UniProtKB: Q9UQD03   

Export aliases for SCN8A gene to outside databases

Previous GC identifers: GC12M052742 GC12P052007 GC12P051701 GC12P050271 GC12P049089


(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 SCN8A Gene:
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore
region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that
occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated
with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript
variants.(provided by RefSeq, May 2010)

GeneCards Summary for SCN8A Gene:
SCN8A (sodium channel, voltage gated, type VIII, alpha subunit) is a protein-coding gene. Diseases associated with SCN8A include cognitive impairment with or without cerebellar ataxia, and epileptic encephalopathy, early infantile, 13. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0
Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed
conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective
channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and
melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation

summary for SCN8A 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 SCN8A 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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCN8A gene promoter:
         TBP   p53   AP-1   ATF-2   TFIID   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN8A promoter sequence
   Search Chromatin IP Primers for SCN8A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCN8A


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.1

SCN8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN8A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P051987:  view genomic region     (about GC identifiers)

Start:
51,984,050 bp from pter      End:
52,206,648 bp from pter
Size:
222,599 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, 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: SCN8A_HUMAN, Q9UQD0 (See protein sequence)
Recommended Name: Sodium channel protein type 8 subunit alpha  
Size: 1980 amino acids; 225280 Da
Subunit: Interacts with NEDD4 and NEDD4L (By similarity). Interacts with FGF13; may regulate SCN8A activity
Secondary accessions: B9VWG8 O95788 Q9NYX2 Q9UPB2
Alternative splicing: 5 isoforms:  Q9UQD0-1   Q9UQD0-2   Q9UQD0-3   Q9UQD0-4   Q9UQD0-5   

Explore the universe of human proteins at neXtProt for SCN8A: NX_Q9UQD0

Explore proteomics data for SCN8A at MOPED

Post-translational modifications: 

  • May be ubiquitinated by NEDD4L; which would promote its endocytosis (By similarity)1
  • Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel
    and reduces peak sodium currents (By similarity)1
  • Glycosylation2 at Asn215, Asn289, Asn295, Asn308, Asn326, Asn1358, Asn1372, Asn1383
  • Modification sites at PhosphoSitePlus

  • See SCN8A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171455.1  NP_055006.1  

    ENSEMBL proteins: 
     ENSP00000448415   ENSP00000346534   ENSP00000347255   ENSP00000447567   ENSP00000440360  
    Reactome Protein details: Q9UQD0

    SCN8A Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SCN8A
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    Novus Biologicals SCN8A Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for SCN8A 

    SCN8A Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SCN8A
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    Abcam antibodies for SCN8A
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for SCN8A

    SCN8A Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for SCN8A 


    (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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Nav1.6
    Voltage-gated sodium channels

    Selected InterPro protein domains (see all 7):
     IPR010526 Na_trans_assoc
     IPR005821 Ion_trans_dom
     IPR027359 Channel_four-helix_dom
     IPR001696 Na_channel_asu
     IPR008054 Na_channel_a8su

    Graphical View of Domain Structure for InterPro Entry Q9UQD0

    ProtoNet protein and cluster: Q9UQD0

    3 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB001696 Voltage-gated Na+ channel alpha subunit signature
    IPB008054 Voltage-gated Na+ channel alpha 8 subunit signature


    UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0
    Domain: The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one
    positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series
    of positively charged amino acids at every third position
    Similarity: Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.6/SCN8A subfamily
    Similarity: Contains 1 IQ domain


    Find genes that share domains with SCN8A           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: SCN8A_HUMAN, Q9UQD0
    Function: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed
    conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective
    channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and
    melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation

         Genatlas biochemistry entry for SCN8A:
    sodium voltage-gated channel,type VIII,alpha polypeptide,with two alternative spliced isoforms,expressed in brain
    and spinal cord,homolog to the Scn8a murine gene,mutated in motor end-plate disease

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005248voltage-gated sodium channel activity NAS9828131
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with SCN8A           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for SCN8A:
     Decreased nuclei size in G2M  Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Scn8a):
     behavior/neurological  cardiovascular system  cellular  growth/size/body  hearing/vestibular/ear 
     mortality/aging  muscle  nervous system  reproductive system  respiratory system 
     skeleton  vision/eye 

    Find genes that share phenotypes with SCN8A           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN8A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SCN8A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCN8A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCN8A

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SCN8A (see all 24):
    hsa-miR-30c hsa-miR-3673 hsa-miR-495 hsa-miR-676 hsa-miR-4251 hsa-miR-15a hsa-miR-30d hsa-miR-3190
    SwitchGear 3'UTR luciferase reporter plasmidSCN8A 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat SCN8A

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): SCN8A (NM_001177984)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCN8A
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN8A

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN8A


    (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
    SCN8A_HUMAN, Q9UQD0: Membrane; Multi-pass membrane protein
    SCN8A_HUMAN, Q9UQD0: Isoform 5: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma
    invadopodia and macrophage podosomes. Does not localize to the plasma membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex IC9828131
    GO:0016020membrane ----
    GO:0016021integral component of membrane TAS9828131
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0030018Z disc ISS--

    Find genes that share ontologies with SCN8A           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 SCN8A About   (see all 6)  
    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
    5Sodium channels and transporters inward current
    Sodium channels and transporters inward current


    Find genes that share SuperPaths with SCN8A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SCN8A (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 SCN8A
        Interaction between L1 and Ankyrins


        Pathway & Disease-focused RT2 Profiler PCR Array including SCN8A: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SCN8A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SCN8A (Q9UQD03 ENSP000003465344) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    GNAO1P094713, ENSP000002624934I2D: score=1 STRING: ENSP00000262493
    FGF13Q929133, ENSP000003223904I2D: score=1 STRING: ENSP00000322390
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006814sodium ion transport NAS9828131
    GO:0007399nervous system development TAS9828131
    GO:0007411axon guidance TAS--
    GO:0007422peripheral nervous system development ISS--

    Find genes that share ontologies with SCN8A           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 SCN8A 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 SCN8A    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    8 IUPHAR Ligands for SCN8A (Nav1.6)    About this table
    LigandTypeActionAffinityPubmed IDs
    ATX-II
    Gating inhibitorAntagonist6.715169781
    AFT-II
    Gating inhibitorAntagonist6.515169781
    Bc-III
    Gating inhibitorAntagonist615169781
    beta-scorpion toxin Cn2
    ActivatorNone616702217
    veratridine
    ActivatorNone6--
    tetrodotoxin
    Channel blockerNone6--
    saxitoxin
    Channel blockerNone6--
    batrachotoxin
    ActivatorNone6--

    2 Novoseek inferred chemical compound relationships for SCN8A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 70.5 26 7670495 (3), 11496924 (3), 10623608 (2), 19424768 (2) (see all 17)
    potassium 22.4 1 16537565 (1)



    Find genes that share compounds with SCN8A           About GenesLikeMe



    (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 SCN8A gene (3 alternative transcripts): 
    NM_001177984.2  NM_014191.3  NM_175894.2  

    Unigene Cluster for SCN8A:

    Sodium channel, voltage gated, type VIII, alpha subunit
    Hs.436550  [show with all ESTs]
    Unigene Representative Sequence: NM_014191
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546961 ENST00000550891(uc001ryz.1 uc001ryy.2) ENST00000354534(uc001ryw.3)
    ENST00000355133(uc001ryx.1 uc001rza.1) ENST00000551216 ENST00000548086
    ENST00000545061(uc010snl.2)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SCN8A (see all 24):
    hsa-miR-30c hsa-miR-3673 hsa-miR-495 hsa-miR-676 hsa-miR-4251 hsa-miR-15a hsa-miR-30d hsa-miR-3190
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat SCN8A

    Additional mRNA sequence: 

    AB027567.1 AF225988.1 AJ276141.1 AJ276142.1 AJ277395.1 AJ310884.1 AJ310885.1 AJ310898.1 
    AK091315.1 AK309213.1 AY682081.1 AY682082.1 AY682083.1 FJ611941.1 Z50169.1 

    7 DOTS entries:

    DT.75119846  DT.443729  DT.100745517  DT.91983673  DT.121176224  DT.75139908  DT.121176238 

    Selected AceView cDNA sequences (see all 40):

    BM929799 AJ310884 AJ277395 NM_014191 AJ310885 AJ276141 CB529722 AJ276142 
    AB027567 AI348374 AJ310898 AY682081 BG761119 AY682083 BM684843 AY682082 
    BX497885 AF225988 BV199074 AI131238 AU252700 W96187 BF947129 AA047806 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SCN8A    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a ·
    SP1:                                -                                         -                                                                 -               
    SP2:                                -                                                                                                                           
    SP3:                          -                                               -                                                                                 
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                  -         

    ExUns: 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for SCN8A

    (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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    SCN8A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTACTTTAC
    SCN8A Expression
    About this image

    SCN8A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN8A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.436550

    UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0
    Tissue specificity: Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN8A: 
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    (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 SCN8A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn8a1 , 5 sodium channel, voltage-gated, type VIII, alpha1, 5 90.07(n)1
    98.74(a)1
      15 (56.39 cM)5
    202731  NM_001077499.21  NP_001070967.11 
     1009362715 
    chicken
    (Gallus gallus)
    Aves SCN8A1 sodium channel, voltage gated, type VIII, alpha subunit 83.86(n)
    94.23(a)
      426869  XM_003643112.2  XP_003643160.1 
    lizard
    (Anolis carolinensis)
    Reptilia SCN8A6
    sodium channel, voltage gated, type VIII, alpha su...
    93(a)
    1 ↔ 1
    2(90836564-90950950)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017313471 sodium channel protein type 8 subunit alpha-like 77.15(n)
    88.09(a)
      101731347  XM_004911908.1  XP_004911965.1 
    zebrafish
    (Danio rerio)
    Actinopterygii scn8a2 sodium channel, voltage-gated, type VIII, alpha polypeptide 79.12(n)   58152  AF297658.1 


    ENSEMBL Gene Tree for SCN8A (if available)
    TreeFam Gene Tree for SCN8A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCN8A gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1I2  CACNA1F2  CACNA1G2  SCN10A2  
    SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN11A2  SCN4A2  SCN1A2  
    12 SIMAP similar genes for SCN8A using alignment to 10 protein entries:     SCN8A_HUMAN (see all proteins):
    SCN3A    SCN2A    SCN1A    SCN2A2    SCN9A    SCN5A
    SCN4A    SCN10A    SCN7A    SCN11A    CACNA1H    TPCN1

    Find genes that share paralogs with SCN8A           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 SCN8A (see all 3886)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0675394
    Epileptic encephalopathy, early infantile, 13 (EIEE13)4--see VAR_0675392 N D mis40--------
    rs1439761821,2
    --49016021(+) GACAGA/GCCCAC 2 -- us2k10--------
    rs731013161,2
    C,F--49016255(+) GAAAGC/TATATA 2 -- us2k11Minor allele frequency- T:0.06NA 120
    rs1876378731,2
    --49016362(+) ATAAAC/TACATT 2 -- us2k10--------
    rs1921641021,2
    --49016426(+) GGCAAC/TGACTG 2 -- us2k10--------
    rs118339931,2
    C,F,H--49016458(+) ccgagT/Gggaag 2 -- us2k16Minor allele frequency- G:0.02NS NA WA 348
    rs1487663941,2
    --49016688(+) ACACAC/TAACTC 2 -- us2k10--------
    rs781893121,2
    C,F--49016736(+) GTAAAG/ACTAAT 2 -- us2k11Minor allele frequency- A:0.07WA 118
    rs1448523531,2
    --49016759(+) GTAGAA/GGGCAC 2 -- us2k10--------
    rs1479365961,2
    --49016788(+) CATGTA/GCCTGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for SCN8A (51984050 - 52206648 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SCN8A:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2745886CNV Deletion23290073
    esv2745887CNV Deletion23290073
    esv2020985CNV Deletion18987734
    nsv706CNV Loss18451855
    nsv826373CNV Gain20364138

    Human Gene Mutation Database (HGMD): SCN8A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCN8A
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN8A

    (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.)
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    OMIM gene information: 600702   
    OMIM disorders: 614306  614558  
    UniProtKB/Swiss-Prot: SCN8A_HUMAN, Q9UQD0
  • Cognitive impairment with or without cerebellar ataxia (CIAT) [MIM:614306]: A disorder characterized by
    markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features
    include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic
    gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Epileptic encephalopathy, early infantile, 13 (EIEE13) [MIM:614558]: A form of epilepsy characterized by
    frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns,
    characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to
    West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and
    hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism,
    intellectual disability, ataxia, and sudden unexplained death in epilepsy. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 11 diseases for SCN8A:    
    About MalaCards
    cognitive impairment with or without cerebellar ataxia    epileptic encephalopathy, early infantile, 13    myoclonic epilepsy of infancy    epilepsy with generalized tonic-clonic seizures
    pain disorder    generalized epilepsy with febrile seizures plus    pulpitis    erythromelalgia
    infantile epileptic encephalopathy    myotonia    dravet syndrome

    8 diseases from the University of Copenhagen DISEASES database for SCN8A:
    Dravet Syndrome     Idiopathic generalized epilepsy     Erythromelalgia     Pain disorder
    Epilepsy with generalized tonic-clonic seizures     Long QT syndrome     Brugada syndrome     Neuropathy

    Find genes that share disorders with SCN8A           About GenesLikeMe

    2 Novoseek inferred disease relationships for SCN8A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurological disorders 42.4 3 11496924 (2), 15619959 (1)
    paralysis 41.5 2 9392583 (1), 11496924 (1)

    Genetic Association Database (GAD): SCN8A
    Human Genome Epidemiology (HuGE) Navigator: SCN8A (7 documents)

    Export disorders for SCN8A 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 SCN8A gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with SCN8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. (PubMed id 9828131)1, 2, 3 Plummer N.W.... Meisler M.H. (Genomics 1998)
    2. Mutation of a new sodium channel gene, Scn8a, in the mouse mutant 'motor endplate disease'. (PubMed id 7670495)1, 3, 9 Burgess D.L....Meisler M.H. (Nat. Genet. 1995)
    3. Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. (PubMed id 19136557)1, 2, 9 Carrithers M.D.... Waxman S.G. (J. Biol. Chem. 2009)
    4. Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (PubMed id 18718804)1, 4, 9 Sharkey L.M....Meisler M.H. (amp 2009)
    5. De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP. (PubMed id 22365152)1, 2 Veeramah K.R.... Hammer M.F. (Am. J. Hum. Genet. 2012)
    6. 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)
    7. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. (PubMed id 19352218)1, 4 Elia J....Hakonarson H. (Psychiatr. Genet. 2009)
    8. SCN8A as a novel candidate gene associated with bipolar disorder in the Han Chinese population. (PubMed id 18812204)1, 4 Wang Y....He G. (amp 2008)
    9. International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. (PubMed id 16382098)1, 3 Catterall W.A....Waxman S.G. (Pharmacol. Rev. 2005)
    10. Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. (PubMed id 15282281)1, 2 Wittmack E.K....Dib-Hajj S.D. (J. Neurosci. 2004)

    (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: 6334 HGNC: 10596 AceView: SCN8A Ensembl:ENSG00000196876 euGenes: HUgn6334
    ECgene: SCN8A H-InvDB: SCN8A

    (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 SCN8A 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 SCN8A gene:
    Search GeneIP for patents involving SCN8A

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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