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SCN10A Gene

protein-coding   GIFtS: 58
GCID: GC03M038713

Sodium Channel, Voltage-Gated, Type X, Alpha Subunit

(Previous names: sodium channel, voltage-gated, type X, alpha polypeptide)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sodium Channel, Voltage-Gated, Type X, Alpha Subunit1 2     hPN32 3
Sodium Channel, Voltage-Gated, Type X, Alpha Polypeptide1 2     FEPS22 5
Peripheral Nerve Sodium Channel 32 3     Nav1.82
Sodium Channel Protein Type X Subunit Alpha2 3     SNS2
Voltage-Gated Sodium Channel Subunit Alpha Nav1.82 3     Sodium Channel Protein Type 10 Subunit Alpha2
PN32 3     

External Ids:    HGNC: 105821   Entrez Gene: 63362   Ensembl: ENSG000001853137   OMIM: 6044275   UniProtKB: Q9Y5Y93   

Export aliases for SCN10A gene to outside databases

Previous GC identifers: GC03U990071 GC03M038552 GC03M038699


(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 SCN10A Gene:
The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The
properties of the channel formed by the encoded transmembrane protein can be altered by interaction with
different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy.
(provided by RefSeq, Dec 2011)

GeneCards Summary for SCN10A Gene:
SCN10A (sodium channel, voltage-gated, type X, alpha subunit) is a protein-coding gene. Diseases associated with SCN10A include episodic pain syndrome, familial, 2, and erythromelalgia. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: SCNAA_HUMAN, Q9Y5Y9
Function: Tetrodotoxin-resistant channel that 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 sodium ions may pass in accordance with their
electrochemical gradient. Plays a role in neuropathic pain mechanisms

summary for SCN10A 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 SCN10A 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_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCN10A gene promoter:
         E2F-1   NRSF form 1   NF-kappaB1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN10A promoter sequence
   Search Chromatin IP Primers for SCN10A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCN10A


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

Entrez Gene cytogenetic band: 3p22.2   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p22.2

SCN10A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN10A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M038713:  view genomic region     (about GC identifiers)

Start:
38,738,293 bp from pter      End:
38,835,501 bp from pter
Size:
97,209 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SCNAA_HUMAN, Q9Y5Y9 (See protein sequence)
Recommended Name: Sodium channel protein type 10 subunit alpha  
Size: 1956 amino acids; 220626 Da
Subunit: The channel consists of an ion conducting pore forming alpha-subunit regulated by one or more associated
auxiliary subunits SCN1B, SCN2B and SCN3B; electrophysiological properties may vary depending on the type of the
associated beta subunits. Found in a number of complexes with PRX, DYNLT1 and PDZD2. Interacts with proteins such
as FSTL1, PRX, DYNLT1, PDZD2, S100A10 and many others (By similarity). Interacts with NEDD4 and NEDD4L
Secondary accessions: A6NDQ1

Explore the universe of human proteins at neXtProt for SCN10A: NX_Q9Y5Y9

Explore proteomics data for SCN10A at MOPED

Post-translational modifications: 

  • Ubiquitinated by NEDD4L; which promotes its endocytosis (By similarity)1
  • Phosphorylation at Ser-1451 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel
    and reduces peak sodium currents (By similarity)1
  • Glycosylation2 at Asn284, Asn288, Asn312, Asn335, Asn819, Asn1312, Asn1328, Asn1336, Asn1686
  • Modification sites at PhosphoSitePlus

  • See SCN10A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006505.2  
    ENSEMBL proteins: 
     ENSP00000390600  

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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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Nav1.8
    Voltage-gated sodium channels

    5 InterPro protein domains:
     IPR028809 Na_channel_a10su
     IPR010526 Na_trans_assoc
     IPR005821 Ion_trans_dom
     IPR027359 Channel_four-helix_dom
     IPR001696 Na_channel_asu

    Graphical View of Domain Structure for InterPro Entry Q9Y5Y9

    ProtoNet protein and cluster: Q9Y5Y9

    1 Blocks protein domain: IPB001696 Voltage-gated Na+ channel alpha subunit signature

    UniProtKB/Swiss-Prot: SCNAA_HUMAN, Q9Y5Y9
    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. Nav1.8/SCN10A subfamily
    Similarity: Contains 1 IQ domain


    SCN10A 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: SCNAA_HUMAN, Q9Y5Y9
    Function: Tetrodotoxin-resistant channel that 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 sodium ions may pass in accordance with their
    electrochemical gradient. Plays a role in neuropathic pain mechanisms

         Genatlas biochemistry entry for SCN10A:
    sodium channel voltage-gated,type X,alpha polypeptide,tetrodotoxin resistant,specific to sensory neurons,expressed
    in dorsal root ganglia

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005248voltage-gated sodium channel activity IDA9839820
         
    SCN10A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SCN10A:
     Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Scn10a):
     behavior/neurological  cardiovascular system  integument  nervous system  no phenotypic analysis 
     respiratory system 

    SCN10A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Scn10atm1Jnw for SCN10A

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN10A
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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
    SCNAA_HUMAN, Q9Y5Y9: Membrane; Multi-pass membrane protein (By similarity). Note=It can be translocated to the
    extracellular membrane through association with S100A10 (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex IDA9839820
    GO:0005886plasma membrane ----
    GO:0016020membrane ----
    GO:0030424axon ----
    GO:0044299C-fiber IEA--

    SCN10A 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 SCN10A About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    2Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    3G-Beta Gamma Signaling
    GHRH Signaling0.46
    4Ca-dependent events
    Neurophysiological process PGE2 induced pain processing0.38
    5Synaptic transmission ion currents
    Synaptic transmission ion currents

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SCN10A (see all 7)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    PKA Signaling
    cAMP Pathway
    Aldosterone Signaling in Epithelial Cells

    1 GeneGo (Thomson Reuters) Pathway for SCN10A
        Neurophysiological process PGE2-induced pain processing


        Pathway & Disease-focused RT2 Profiler PCR Array including SCN10A: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SCN10A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for SCN10A (Q9Y5Y93 ENSP000003906004) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    ACTBP607093, ENSP000003499604I2D: score=2 STRING: ENSP00000349960
    S100A10P609033, ENSP000003577994I2D: score=2 STRING: ENSP00000357799
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate IMP--
    GO:0006811ion transport ----
    GO:0006814sodium ion transport TAS9839820
    GO:0007600sensory perception TAS9839820
    GO:0019233sensory perception of pain ----

    SCN10A 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 SCN10A 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]

    2 HMDB Compounds for SCN10A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Benzocaine(p-(Ethoxycarbonyl)phenylamine (see all 52)94-09-7--
    SodiumSodium (see all 2)7440-23-5--

    Selected DrugBank Compounds for SCN10A (see all 16)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    BenzocaineEthyl Aminobenzoate (see all 7)94-09-7targetinhibitor17967784 17139284 17016423 16174788 19661462
    Levobupivacaine-- 27262-47-1targetinhibitor11094008 17139284 16418020 17016423 10969308
    Procaine-- 59-46-1targetinhibitor8581044 17139284 9768788 2167458 17016423
    Dibucaine-- 85-79-0targetinhibitor9742684 17139284 17016423 8798723
    Dyclonine-- 586-60-7targetinhibitor10355012 9476974 17139284 17016423
    Bupivacaine(+-)-Bupivacaine (see all 10)2180-92-9targetinhibitor17139284 17016423 20685573
    ChloroprocaineChloroprocain (see all 3)133-16-4targetinhibitor8418714 17139284 17016423
    LidocaineDilocaine (see all 2)137-58-6targetinhibitor20585544 19088384 17077153
    MepivacaineDL-Mepivacaine (see all 7)96-88-8targetinhibitor17139284 17016423 20044988
    OxybuprocaineBenoxinate (see all 11)99-43-4targetinhibitor17139284 17016423 19429093

    2 IUPHAR Ligands for SCN10A (Nav1.8)    About this table
    LigandTypeActionAffinityPubmed IDs
    batrachotoxin
    ActivatorNone15527793
    tetrodotoxin
    Channel blockerNone--

    2 Novoseek inferred chemical compound relationships for SCN10A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetrodotoxin 62 3 18466327 (1), 9839820 (1)
    sodium 61.7 12 9839820 (3), 19367709 (3), 18466327 (1), 18501613 (1) (see all 7)



    SCN10A 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,
    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 SCN10A gene: 
    NM_006514.2  

    Unigene Cluster for SCN10A:

    Sodium channel, voltage-gated, type X, alpha subunit
    Hs.250443  [show with all ESTs]
    Unigene Representative Sequence: NM_006514
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000449082(uc003ciq.3)
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    Additional mRNA sequence: AF117907.1 

    1 DOTS entry:

    DT.91749733 

    3 AceView cDNA sequences:

    NM_006514 AF117907 AL705279 

    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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    SCN10A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SCN10A Expression
    About this image

    SCN10A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN10A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.250443

    UniProtKB/Swiss-Prot: SCNAA_HUMAN, Q9Y5Y9
    Tissue specificity: Expressed in the dorsal root ganglia and sciatic nerve

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN10A: 
              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 SCN10A

    (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 SCN10A gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn10a1 , 5 sodium channel, voltage-gated, type X, alpha1, 5 82.37(n)1
    82.3(a)1
      9 (71.33 cM)5
    202641  NM_001205321.11  NP_001192250.11 
     1196084565 
    chicken
    (Gallus gallus)
    Aves SCN10A6
    sodium channel, voltage-gated, type X, alpha subun...
    59(a)
    1 ↔ 1
    2(5360857-5391398)
    lizard
    (Anolis carolinensis)
    Reptilia SCN10A6
    sodium channel, voltage-gated, type X, alpha subun...
    58(a)
    1 ↔ 1
    6(204897-253425)
    zebrafish
    (Danio rerio)
    Actinopterygii scn1a6
    CABZ01063402.16
    Uncharacterized protein
    55(a)
    53(a)
    many ↔ many
    many ↔ many
    9(50902616-50972365) ENSDARG00000010783
    24(42714922-42889682) ENSDARG00000078758


    ENSEMBL Gene Tree for SCN10A (if available)
    TreeFam Gene Tree for SCN10A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCN10A gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1I2  CACNA1F2  CACNA1G2  SCN8A2  
    SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN11A2  SCN4A2  SCN1A2  
    11 SIMAP similar genes for SCN10A using alignment to 1 protein entry:     SCNAA_HUMAN:
    SCN5A    SCN3A    SCN4A    SCN1A    SCN2A    SCN9A
    SCN8A    SCN11A    SCN2A2    SCN7A    CACNA1B

    SCN10A 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 SCN10A (see all 2362)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888562331,2
    --38670829(+) CACAGG/TTGTTA 1 -- ds50010--------
    rs1932303871,2
    --38670903(+) TGCCAA/GTCTCT 1 -- ds50010--------
    rs1835734021,2
    --38671009(+) TATAAA/TCTGAT 1 -- ds50010--------
    rs65992401,2
    C,F,A,H--38671187(+) GTTCTA/GACATT 1 -- ds500141Minor allele frequency- N:0.00EA NA NS WA CSA 3774
    rs1162833321,2
    C,F--38671263(+) CAGAGC/TAGAAG 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1428133401,2
    C--38671270(+) GAAGGA/TCGCAT 1 -- ds50010--------
    rs3727023021,2
    C--38671347(+) TGGCTC/TCATCT 2 E G mis10--------
    rs1426538461,2
    C,F--38671524(+) ATGCAG/ACCTCC 2 /A /V mis11Minor allele frequency- A:0.00NA 4550
    rs1489794381,2
    C,F--38671525(+) TGCAGC/TCTCCT 2 T A mis12Minor allele frequency- T:0.00NA EU 5873
    rs1435234031,2
    C,F--38671551(+) CACATG/AGGGTG 2 /P /L mis11Minor allele frequency- A:0.00NA 4550

    HapMap Linkage Disequilibrium report for SCN10A (38738293 - 38835501 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SCN10A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527515CNV Loss19592680

    Human Gene Mutation Database (HGMD): SCN10A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCN10A
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN10A

    (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: 604427   
    OMIM disorders: 615551  
    15 diseases for SCN10A:    
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    episodic pain syndrome, familial, 2    erythromelalgia    hereditary sensory neuropathy    paroxysmal extreme pain disorder
    trigeminal neuralgia    peripheral neuropathy    dyspepsia    neuropathy
    neuroma    cholera    systemic lupus erythematosus    lupus erythematosus
    melanoma    neuronitis    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for SCN10A:
    Melanoma     Breast cancer     Carcinoma

    SCN10A for disorders           About GeneDecksing

    Genetic Association Database (GAD): SCN10A
    Human Genome Epidemiology (HuGE) Navigator: SCN10A (6 documents)

    Export disorders for SCN10A 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 SCN10A gene, integrated from 10 sources (see all 69):
    (articles sorted by number of sources associating them with SCN10A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A. (PubMed id 9839820)1, 2, 3, 9 Rabert D.K.... Sangameswaran L. (Pain 1998)
    2. Genome-wide association study of PR interval. (PubMed id 20062060)1, 4 Pfeufer A....Heckbert S.R. (Nat. Genet. 2010)
    3. Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. (PubMed id 21041692)1, 4 Denny J.C....Roden D.M. (Circulation 2010)
    4. Genetic variation in SCN10A influences cardiac conduction. (PubMed id 20062061)1, 4 Chambers J.C....Kooner J.S. (Nat. Genet. 2010)
    5. 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)
    6. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. (PubMed id 21076409)1, 4 Sotoodehnia N....Arking D.E. (Nat. Genet. 2010)
    7. Several common variants modulate heart rate, PR interval and QRS duration. (PubMed id 20062063)1, 4 Holm H....Stefansson K. (Nat. Genet. 2010)
    8. 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)
    9. Evolution and diversity of mammalian sodium channel genes. (PubMed id 10198179)1, 3 Plummer N.W. and Meisler M.H. (Genomics 1999)
    10. Small-fiber neuropathy Nav1.8 mutation shifts activation to hyperpolarized potentials and increases excitability of dorsal root ganglion neurons. (PubMed id 23986244)1 Huang J....Waxman S.G. (J. Neurosci. 2013)

    (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: 6336 HGNC: 10582 AceView: SCN10A Ensembl:ENSG00000185313 euGenes: HUgn6336
    ECgene: SCN10A H-InvDB: SCN10A

    (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 SCN10A 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 SCN10A gene:
    Search GeneIP for patents involving SCN10A

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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