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SCN7A Gene

protein-coding   GIFtS: 54
GCID: GC02M167225

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

(Previous names: sodium channel, voltage-gated, type VI, alpha, sodium channel,...)
(Previous symbol: SCN6A)
  See SCN7A-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 VII, Alpha Subunit1 2     NaG2
SCN6A1 2 3 5     Nav2.12
Putative Voltage-Gated Sodium Channel Subunit Alpha Nax2 3     Nav2.22
Sodium Channel Protein Cardiac And Skeletal Muscle Subunit Alpha2 3     Sodium Channel Protein Type 7 Subunit Alpha2
Sodium Channel Protein Type VII Subunit Alpha2 3     Sodium Channel, Voltage-Gated, Type VI, Alpha Polypeptide2
Sodium Channel, Voltage-Gated, Type VI, Alpha1     Voltage-Dependent Sodium Channel Alpha Subunit2
Sodium Channel, Voltage-Gated, Type VII, Alpha1     

External Ids:    HGNC: 105941   Entrez Gene: 63322   Ensembl: ENSG000001365467   OMIM: 1823925   UniProtKB: Q011183   

Export aliases for SCN7A gene to outside databases

Previous GC identifers: GC02M165317 GC02M165803 GC02M167464 GC02M167087 GC02M166970 GC02M159142


(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 SCN7A Gene:
This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and
muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane
depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human
and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which
sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer
arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript
variants exist, but the full-length natures of all of them remain unknown. (provided by RefSeq, Dec 2011)

GeneCards Summary for SCN7A Gene:
SCN7A (sodium channel, voltage-gated, type VII, alpha subunit) is a protein-coding gene. Diseases associated with SCN7A include normokalemic periodic paralysis, and paramyotonia congenita. GO annotations related to this gene include voltage-gated sodium channel activity. An important paralog of this gene is SCN5A.

UniProtKB/Swiss-Prot: SCN7A_HUMAN, Q01118
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

Gene Wiki entry for SCN7A 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_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SCN7A gene promoter:
         TBP   ISGF-3   Pbx1a   FOXO3   CUTL1   FOXO3b   FOXO1a   FOXO3a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCN7A promoter sequence
   Search Chromatin IP Primers for SCN7A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SCN7A


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

Entrez Gene cytogenetic band: 2q21-q23   Ensembl cytogenetic band:  2q24.3   HGNC cytogenetic band: 2q21-q23

SCN7A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SCN7A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M167225:  view genomic region     (about GC identifiers)

Start:
167,260,083 bp from pter      End:
167,350,757 bp from pter
Size:
90,675 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: SCN7A_HUMAN, Q01118 (See protein sequence)
Recommended Name: Sodium channel protein type 7 subunit alpha  
Size: 1682 amino acids; 193493 Da

Explore the universe of human proteins at neXtProt for SCN7A: NX_Q01118

Explore proteomics data for SCN7A at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn276, Asn281, Asn309, Asn1103, Asn1113
  • Modification sites at PhosphoSitePlus

  • See SCN7A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002967.2  
    ENSEMBL proteins: 
     ENSP00000386796   ENSP00000396600   ENSP00000413699   ENSP00000403846  
    Reactome Protein details: Q01118

    SCN7A Human Recombinant Protein Products:

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    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 SCN7A 

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    Search eBioscience for ELISAs for SCN7A 


    (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

    Selected InterPro protein domains (see all 6):
     IPR010526 Na_trans_assoc
     IPR005821 Ion_trans_dom
     IPR028812 Na_channel_a7su
     IPR027359 Channel_four-helix_dom
     IPR001696 Na_channel_asu

    Graphical View of Domain Structure for InterPro Entry Q01118

    ProtoNet protein and cluster: Q01118

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


    UniProtKB/Swiss-Prot: SCN7A_HUMAN, Q01118
    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. SCN7A subfamily


    Find genes that share domains with SCN7A           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: SCN7A_HUMAN, Q01118
    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

         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 IEA--
    GO:0005272sodium channel activity ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SCN7A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SCN7A:
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Scn7a):
     taste/olfaction 

    Find genes that share phenotypes with SCN7A           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SCN7A
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SCN7A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SCN7A

    miRNA
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    Block miRNA regulation of human, mouse, rat SCN7A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SCN7A (see all 21):
    hsa-miR-3910 hsa-miR-607 hsa-miR-3200-5p hsa-miR-29c hsa-miR-29a hsa-miR-200a hsa-miR-340 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidSCN7A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SCN7A
    Predesigned siRNA for gene silencing in human, mouse, rat SCN7A

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: SCN7A (NM_002976)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SCN7A
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SCN7A

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN7A


    (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
    SCN7A_HUMAN, Q01118: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518voltage-gated sodium channel complex IEA--
    GO:0005886plasma membrane ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0097386glial cell projection IEA--

    Find genes that share ontologies with SCN7A           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 SCN7A 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
    5Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins


    Find genes that share SuperPaths with SCN7A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SCN7A (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 SCN7A
        Interaction between L1 and Ankyrins


    1 Kegg Pathway  (Kegg details for SCN7A):
        Adrenergic signaling in cardiomyocytes

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SCN7A
    Interactions:

        Search GeneGlobe Interaction Network for SCN7A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for SCN7A (ENSP000003867964) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPPE1ENSP000003112004STRING: ENSP00000311200
    SCN10AENSP000003906004STRING: ENSP00000390600
    SCN11AENSP000003075994STRING: ENSP00000307599
    SCN1AENSP000003645544STRING: ENSP00000364554
    SCN1BENSP000003969154STRING: ENSP00000396915
    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 TAS1317577
    GO:0006936muscle contraction IEA--
    GO:0035725sodium ion transmembrane transport ----
    GO:0055078sodium ion homeostasis IEA--

    Find genes that share ontologies with SCN7A           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 

    Browse Tocris compounds for SCN7A

    1 HMDB Compound for SCN7A    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    4 Novoseek inferred chemical compound relationships for SCN7A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    grayanotoxin 83.7 2 11562450 (1), 12150970 (1)
    sodium 79.3 72 14985375 (2), 1657647 (2), 10842222 (2), 15037518 (2) (see all 56)
    serine 3.92 1 10381583 (1)
    calcium 0 1 15072700 (1)



    Find genes that share compounds with SCN7A           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 SCN7A gene: 
    NM_002976.3  

    Unigene Cluster for SCN7A:

    Sodium channel, voltage-gated, type VII, alpha subunit
    Hs.596087  [show with all ESTs]
    Unigene Representative Sequence: NR_045628
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409855(uc010fpm.2 uc002udu.2) ENST00000424326 ENST00000419992(uc002udv.1)
    ENST00000441411 ENST00000497562
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SCN7A (see all 21):
    hsa-miR-3910 hsa-miR-607 hsa-miR-3200-5p hsa-miR-29c hsa-miR-29a hsa-miR-200a hsa-miR-340 hsa-miR-3692
    SwitchGear 3'UTR luciferase reporter plasmidSCN7A 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat SCN7A

    Additional mRNA sequence: 

    AK308450.1 BC062699.1 BC141864.1 M91556.1 NR_045628.1 S75992.1 

    3 DOTS entries:

    DT.113222  DT.95074216  DT.97805275 

    Selected AceView cDNA sequences (see all 81):

    BI493053 AI381295 S75992 BI494261 BQ267802 BE645306 CD722152 BF447497 
    AW118118 BI496536 BI963973 N75192 AI016423 BC062699 CK903677 AA970015 
    BQ898237 BM083311 AI089166 AA329648 AI828648 AI039806 CB410908 AW340347 

    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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    SCN7A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTATATGA
    SCN7A Expression
    About this image


    SCN7A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Fibroblasts
             Mature Cardiac Fibroblasts Myocardium
     
     Testis (Reproductive System)
             Spermatid Seminiferous Tubules
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Gonad
             Spermatid Seminiferous Tubules
    SCN7A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SCN7A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596087

    UniProtKB/Swiss-Prot: SCN7A_HUMAN, Q01118
    Tissue specificity: Heart and uterus

        Custom PCR Arrays for SCN7A
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    QuantiFast Probe-based Assays in human, mouse, rat SCN7A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SCN7A

    (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 animals.

    Orthologs for SCN7A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Scn7a1 , 5 sodium channel, voltage-gated, type VII, alpha1, 5 80.17(n)1
    74.27(a)1
      2 (39.21 cM)5
    202721  NM_009135.21  NP_033161.21 
     666734255 
    fruit fly
    (Drosophila melanogaster)
    Insecta para6
    paralytic
    30(a)
    1 ↔ 1
    X(16352900-16421447)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-26
    Protein UNC-2, isoform a (unc-2) mRNA, complete cd...
    16(a)
    many ↔ many
    X(2710920-2748114) WBGene00006742


    ENSEMBL Gene Tree for SCN7A (if available)
    TreeFam Gene Tree for SCN7A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SCN7A gene
    SCN5A2  SCN9A2  CACNA1D2  CACNA1I2  CACNA1F2  CACNA1G2  SCN8A2  SCN10A2  
    SCN3A2  SCN2A2  CACNA1S2  CACNA1C2  CACNA1H2  SCN11A2  SCN4A2  SCN1A2  
    11 SIMAP similar genes for SCN7A using alignment to 4 protein entries:     SCN7A_HUMAN (see all proteins):
    SCN4A    SCN3A    SCN9A    SCN8A    SCN2A    SCN5A
    SCN1A    SCN11A    SCN10A    TPCN1    SCN2A2

    Find genes that share paralogs with SCN7A           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 SCN7A (see all 1767)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1147279271,2
    C,F--166656949(+) TATCTT/GTAAAA 2 -- ds5001 int11Minor allele frequency- G:0.02NA 120
    rs781163291,2
    F--166656960(+) CAATTT/GCAAGT 2 -- ds5001 int11Minor allele frequency- G:0.02WA 118
    rs1439696291,2
    C--166656985(+) AATGAA/TGCACA 2 -- ds5001 int10--------
    rs799393901,2
    C,F--166657085(+) AATACG/AAAAAT 2 -- ds5001 int11Minor allele frequency- A:0.03NA 120
    rs76051781,2
    C,F,A,H--166657229(+) GTTTCC/TAGTTT 2 -- ds5001 int110Minor allele frequency- T:0.09NS EA NA WA 1196
    rs129919781,2
    C,F,A,H--166657302(+) GCCAAT/CGTGAT 2 -- ds5001 int17Minor allele frequency- C:0.05NS EA NA WA 654
    rs1451141871,2
    --166657433(+) CTTTCA/GGAAGG 2 -- ut31 nc-transcript-variant0--------
    rs1491190521,2
    --166657473(+) GATAAA/CCTTTT 2 -- ut31 nc-transcript-variant0--------
    rs1422112601,2
    C--166657506(+) CTTTAC/TGCAAT 2 -- ut31 nc-transcript-variant0--------
    rs1512059161,2
    --166657589(+) AAAACA/GGAGCT 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for SCN7A (167260083 - 167350757 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SCN7A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470499CNV Loss18288195
    nsv834448CNV Loss17160897
    nsv875374CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SCN7A
    DNA2.0 Custom Variant and Variant Library Synthesis for SCN7A

    (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: 182392    OMIM disorders: --

    8 diseases for SCN7A:    
    About MalaCards
    normokalemic periodic paralysis    paramyotonia congenita    hypokalemic periodic paralysis type 2    cardiac conduction defect
    erythromelalgia    generalized epilepsy with febrile seizures plus    myotonia    hypokalemic periodic paralysis


    Find genes that share disorders with SCN7A           About GenesLikeMe

    3 Novoseek inferred disease relationships for SCN7A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    periodic paralysis 84.6 2 8385647 (1), 8382500 (1)
    hypokalemic periodic paralysis 63.9 1 15072700 (1)
    erythromelalgia 62.8 2 14985375 (1), 16471234 (1)

    Genetic Association Database (GAD): SCN7A
    Human Genome Epidemiology (HuGE) Navigator: SCN7A (2 documents)

    Export disorders for SCN7A 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 SCN7A gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with SCN7A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family. (PubMed id 1317577)1, 2, 9 George A.L. Jr.... Tamkun M.M. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    2. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)1, 4 Landers J.E....Brown R.H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. Genetic variations associated with echocardiographic left ventricular traits in hypertensive blacks. (PubMed id 17339538)1, 4 Meyers K.J....Kardia S.L. (Hypertension 2007)
    4. [Association of single nucleotide polymorphism in human SCN7A gene with essential hypertension in Chinese]. (PubMed id 14669210)1, 4 Zhang K.X....Huang W. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2003)
    5. Evolution and diversity of mammalian sodium channel genes. (PubMed id 10198179)1, 3 Plummer N.W. and Meisler M.H. (Genomics 1999)
    6. Assignment of a human voltage-dependent sodium channel alpha-subunit gene (SCN6A) to 2q21-q23. (PubMed id 8188276)1, 9 George A.L....Brown G.B. (Genomics 1994)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    8. Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. (PubMed id 17903297)4 Seshadri S....Wolf P.A. (BMC Med. Genet. 2007)
    9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)

    (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)
    About This Section

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    Entrez Gene: 6332 HGNC: 10594 AceView: SCN7A Ensembl:ENSG00000136546 euGenes: HUgn6332
    ECgene: SCN7A Kegg: 6332 H-InvDB: SCN7A

    (According to HUGE)
    About This Section

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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 SCN7A Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for SCN7A gene:
    Search GeneIP for patents involving SCN7A

    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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