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SCN11A Gene

protein-coding   GIFtS: 55
GCID: GC03M038862

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

(Previous names: sodium channel, voltage-gated, type XI, alpha polypeptide,...)
(Previous symbol: SCN12A)
  See SCN11A-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 XI, Alpha Subunit1 2     HSAN72 5
SCN12A1 2 3     Sodium Channel, Voltage-Gated, Type XII, Alpha1
Sodium Channel, Voltage-Gated, Type XI, Alpha Polypeptide1 2     NAV1.92
Peripheral Nerve Sodium Channel 52 3     NaN2
Sensory Neuron Sodium Channel 22 3     SNS-22
Sodium Channel Protein Type XI Subunit Alpha2 3     Sodium Channel Protein Type 11 Subunit Alpha2
Voltage-Gated Sodium Channel Subunit Alpha Nav1.92 3     Sodium Channel, Voltage-Gated, Type XII, Alpha Polypeptide2
PN52 3     SNS23
FEPS32 5     hNaN3

External Ids:    HGNC: 105831   Entrez Gene: 112802   Ensembl: ENSG000001683567   OMIM: 6043855   UniProtKB: Q9UI333   

Export aliases for SCN11A gene to outside databases

Previous GC identifers: GC03U990114 GC03P038198 GC03M038700 GC03M038847


(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 SCN11A Gene:
Voltage-gated sodium channels are membrane protein complexes that play a fundamental role in the rising phase of
the action potential in most excitable cells. Alpha subunits, such as SCN11A, mediate voltage-dependent gating
and conductance, while auxiliary beta subunits regulate the kinetic properties of the channel and facilitate
membrane localization of the complex. Aberrant expression patterns or mutations of alpha subunits underlie a
number of disorders. Each alpha subunit consists of 4 domains connected by 3 intracellular loops; each domain
consists of 6 transmembrane segments and intra- and extracellular linkers.(supplied by OMIM, Apr 2004)

GeneCards Summary for SCN11A Gene:
SCN11A (sodium channel, voltage-gated, type XI, alpha subunit) is a protein-coding gene. Diseases associated with SCN11A include episodic pain syndrome, familial, 3, and neuropathy, hereditary sensory and autonomic, type vii. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: SCNBA_HUMAN, Q9UI33
Function: This protein 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. It
is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine
kinase NTRK2, in rapid BDNF-evoked neuronal depolarization

summary for SCN11A 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 SCN11A (Nav1.9) 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_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCN11A gene promoter:
         HFH-3   STAT5B   GR   CUTL1   C/EBPalpha   Evi-1   MEF-2A   FOXI1   AREB6   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN11A promoter sequence
   Search Chromatin IP Primers for SCN11A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCN11A


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

SCN11A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN11A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M038862:  view genomic region     (about GC identifiers)

Start:
38,887,260 bp from pter      End:
38,992,052 bp from pter
Size:
104,793 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: SCNBA_HUMAN, Q9UI33 (See protein sequence)
Recommended Name: Sodium channel protein type 11 subunit alpha  
Size: 1791 amino acids; 204922 Da
Subunit: The voltage-resistant sodium channel consists of an ion conducting pore forming alpha-subunit regulated
by one or more auxiliary subunits SCN1B, SCN2B and SCN3B
Secondary accessions: A6NN05 C9JD48 C9JR31 Q68K15 Q8NDX3 Q9UHE0 Q9UHM0
Alternative splicing: 3 isoforms:  Q9UI33-1   Q9UI33-2   Q9UI33-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCN11A: NX_Q9UI33

Explore proteomics data for SCN11A at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-1341 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel
    and reduces peak sodium currents (By similarity)1
  • Glycosylation2 at Asn290, Asn338, Asn781, Asn1209, Asn1216, Asn1222, Asn1230, Asn1568
  • Modification sites at PhosphoSitePlus

  • See SCN11A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001274152.1  NP_054858.2  

    ENSEMBL proteins: 
     ENSP00000307599   ENSP00000416757   ENSP00000408028   ENSP00000400945  

    SCN11A Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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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: Nav1.9
    Voltage-gated sodium channels

    5 InterPro protein domains:
     IPR010526 Na_trans_assoc
     IPR028821 Na_channel_a11su
     IPR005821 Ion_trans_dom
     IPR027359 Channel_four-helix_dom
     IPR001696 Na_channel_asu

    Graphical View of Domain Structure for InterPro Entry Q9UI33

    ProtoNet protein and cluster: Q9UI33

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

    UniProtKB/Swiss-Prot: SCNBA_HUMAN, Q9UI33
    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. Nav1.9/SCN11A subfamily


    Find genes that share domains with SCN11A           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: SCNBA_HUMAN, Q9UI33
    Function: This protein 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. It
    is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine
    kinase NTRK2, in rapid BDNF-evoked neuronal depolarization

         Genatlas biochemistry entry for SCN11A:
    sodium channel voltage-gated,type XI,alpha polypeptide,preferentially expressed in small diametre sensory neurons
    of dorsal root ganglia and trigeminal ganglia,resistant to tetrodoxin

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005248voltage-gated sodium channel activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SCN11A           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Scn11a):
     behavior/neurological  integument  nervous system 

    Find genes that share phenotypes with SCN11A           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SCN11A: Scn11atm1Mdba Scn11atm1Dgen Scn11atm1Wlf

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN11A
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCN11A

    miRNA
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    hsa-mir-196a-5p (MIRT048261), hsa-mir-30c-5p (MIRT047837)

    Block miRNA regulation of human, mouse, rat SCN11A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCN11A (see all 15):
    hsa-miR-2052 hsa-miR-98 hsa-let-7d hsa-miR-409-3p hsa-miR-202 hsa-miR-624* hsa-let-7c hsa-let-7i
    SwitchGear 3'UTR luciferase reporter plasmidSCN11A 3' UTR sequence
    Inhib. RNA
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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
    SCNBA_HUMAN, Q9UI33: Membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3

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

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

    Find genes that share ontologies with SCN11A           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 SCN11A About    
    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
    4Synaptic transmission ion currents
    Synaptic transmission ion currents
    5Sodium channels and transporters inward current
    Sodium channels and transporters inward current

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SCN11A (see all 7)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    PKA Signaling
    cAMP Pathway
    Aldosterone Signaling in Epithelial Cells


        Pathway & Disease-focused RT2 Profiler PCR Array including SCN11A: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SCN11A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for SCN11A (ENSP000003075994) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCN10AENSP000003906004STRING: ENSP00000390600
    SCN1AENSP000003645544STRING: ENSP00000364554
    SCN1BENSP000003969154STRING: ENSP00000396915
    SCN2AENSP000002832564STRING: ENSP00000283256
    SCN2BENSP000002789474STRING: ENSP00000278947
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006814sodium ion transport TAS10623608
    GO:0035725sodium ion transmembrane transport TAS10623608
    GO:0042493response to drug TAS10623608
    GO:0051930regulation of sensory perception of pain ISS--

    Find genes that share ontologies with SCN11A           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 SCN11A 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 SCN11A    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    2 DrugBank Compounds for SCN11A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZonisamideZonisamida [Spanish] (see all 2)68291-97-4targetinhibitor20025128 14704463 19557119 18433351 20001433 15511691 19948168
    Cocaine(')-cocaine (see all 6)50-36-2targetinhibitor17139284 17016423

    1 IUPHAR Ligand for SCN11A (Nav1.9)    About this table
    LigandTypeActionAffinityPubmed IDs
    tetrodotoxin
    Channel blockerNone--



    (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 SCN11A gene (2 alternative transcripts): 
    NM_001287223.1  NM_014139.2  

    Unigene Cluster for SCN11A:

    Sodium channel, voltage-gated, type XI, alpha subunit
    Hs.591657  [show with all ESTs]
    Unigene Representative Sequence: AF109737
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302328(uc021wvy.1) ENST00000456224(uc010hhn.1) ENST00000444237(uc003cis.1)
    ENST00000450244
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    Additional mRNA sequence: 

    AF109737.1 AF150882.1 AF188679.1 AJ417790.1 AY686224.1 

    2 DOTS entries:

    DT.91909186  DT.305032 

    8 AceView cDNA sequences:

    AA913881 AA885211 CD243400 NM_014139 AF109737 AF188679 AY686224 AA913423 

    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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    SCN11A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAATGAAA
    SCN11A Expression
    About this image

    SCN11A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN11A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591657

    UniProtKB/Swiss-Prot: SCNBA_HUMAN, Q9UI33
    Tissue specificity: Expressed in the dorsal root ganglia and trigeminal ganglia, olfactory bulb, hippocampus,
    cerebellar cortex, spinal cord, spleen, small intestine and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including SCN11A: 
              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 SCN11A

    (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 SCN11A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn11a1 , 5 sodium channel, voltage-gated, type XI, alpha1, 5 77.83(n)1
    74.57(a)1
      9 (71.33 cM)5
    240461  NM_011887.31  NP_036017.31 
     1197537635 
    chicken
    (Gallus gallus)
    Aves SCN11A6
    sodium channel, voltage-gated, type XI, alpha subu...
    49(a)
    1 ↔ 1
    2(5301781-5338309)
    zebrafish
    (Danio rerio)
    Actinopterygii scn1a6
    CABZ01063402.16
    Uncharacterized protein
    45(a)
    45(a)
    many ↔ many
    many ↔ many
    9(50902616-50972365) ENSDARG00000010783
    24(42714922-42889682) ENSDARG00000078758


    ENSEMBL Gene Tree for SCN11A (if available)
    TreeFam Gene Tree for SCN11A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCN11A gene
    SCN5A2  SCN9A2  CACNA1D2  SCN7A2  CACNA1I2  CACNA1F2  CACNA1G2  SCN8A2  
    SCN10A2  SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN4A2  SCN1A2  
    11 SIMAP similar genes for SCN11A using alignment to 2 protein entries:     SCNBA_HUMAN (see all proteins):
    SCN4A    SCN5A    SCN10A    SCN1A    SCN2A    SCN9A
    SCN3A    SCN8A    SCN7A    TPCN1    SCN2A2

    Find genes that share paralogs with SCN11A           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 SCN11A (see all 2141)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1816426241,2
    --38886791(+) ATTCAG/TCCAAA 1 -- ds50010--------
    rs43184941,2
    C,F,A--38886804(+) TGTAAG/ATAGGG 1 -- ds500114Minor allele frequency- A:0.49NA WA CSA EA 515
    rs1867066701,2
    --38886831(+) GATCAC/TTGGTT 1 -- ds50010--------
    rs1466585421,2
    --38886865(+) CACCCC/TGTGCC 1 -- ds50010--------
    rs772003641,2
    --38887050(+) TTGATA/TGCTTG 1 -- ds50010--------
    rs1911419581,2
    --38887073(+) ATGGGA/TGTACT 1 -- ds50010--------
    rs800724311,2
    F--38887077(+) GAGTAC/TTCACA 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1458896491,2
    C--38887237(+) AAGGGA/GAATAT 1 -- ds50010--------
    rs67765101,2
    C,F,A,H--38887253(+) TACTAT/CCTGAA 1 -- ds500135Minor allele frequency- C:0.37NS EA NA WA CSA 3334
    rs2012972011,2
    C--38887304(-) TCAGAG/TATATA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SCN11A (38887260 - 38992052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SCN11A (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725171CNV Deletion23290073
    esv2574623CNV Deletion19546169
    esv2725166CNV Deletion23290073
    esv2725170CNV Deletion23290073
    esv1088777CNV Deletion17803354
    esv2725167CNV Deletion23290073
    esv2725165CNV Deletion23290073
    esv2725172CNV Deletion23290073
    esv2725173CNV Deletion23290073
    dgv816e201CNV Deletion23290073

    Human Gene Mutation Database (HGMD): SCN11A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCN11A
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN11A

    (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: 604385   
    OMIM disorders: 615548  615552  
    5 diseases for SCN11A:    
    About MalaCards
    episodic pain syndrome, familial, 3    neuropathy, hereditary sensory and autonomic, type vii    erythromelalgia    hereditary sensory neuropathy
    paroxysmal extreme pain disorder


    Find genes that share disorders with SCN11A           About GenesLikeMe

    Genetic Association Database (GAD): SCN11A

    Export disorders for SCN11A 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 SCN11A gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with SCN11A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A. (PubMed id 10623608)1, 2, 9 Jeong S.-Y.... Kanazawa I. (Biochem. Biophys. Res. Commun. 2000)
    2. 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)
    3. Expression of alternatively spliced sodium channel alpha-subunit genes: unique splicing patterns are observed in dorsal root ganglia. (PubMed id 15302875)1, 2 Raymond C.K.... Johnson J.M. (J. Biol. Chem. 2004)
    4. Na+ channel Nav1.9: in search of a gating mechanism. (PubMed id 12536125)1, 2 Delmas P. and Coste B. (Trends Neurosci. 2003)
    5. Neurotrophin-evoked depolarization requires the sodium channel Nav1.9. (PubMed id 12384689)1, 2 Blum R.... Konnerth A. (Nature 2002)
    6. Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN. (PubMed id 10444332)1, 3 Dib-Hajj S.D....Waxman S.G. (Genomics 1999)
    7. Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons. (PubMed id 10580103)1, 2 Dib-Hajj S.D....Waxman S.G. (FEBS Lett. 1999)
    8. Gain-of-function mutations in SCN11A cause familial episodic pain. (PubMed id 24207120)1 Zhang X.Y....Liu J.Y. (Am. J. Hum. Genet. 2013)
    9. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. (PubMed id 24036948)1 Leipold E....Kurth I. (Nat. Genet. 2013)
    10. Nav1.9 channel contributes to mechanical and heat pain hypersensitivity induced by subacute and chronic inflammation. (PubMed id 21857998)1 Lolignier S....Busserolles J. (PLoS ONE 2011)

    (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: 11280 HGNC: 10583 AceView: SCN11A Ensembl:ENSG00000168356 euGenes: HUgn11280
    ECgene: SCN11A H-InvDB: SCN11A

    (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 SCN11A 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 SCN11A gene:
    Search GeneIP for patents involving SCN11A

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



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