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SCN5A Gene

protein-coding   GIFtS: 71

GC03M038565
sodium channel, voltage-gated, type V, alpha subunit
(Previous names: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CMD1E)
Services    

Aliases &
Descriptions
for SCN5A

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
CDCD2 1, 2, 5
CMD1E 2, 5
CMPD2 1, 2
HB1 1, 2, 5
HB2 1, 2
HBBD 1, 2
HH1 1, 2, 3
ICCD 1, 2
IVF 1, 2, 5
LQT3 1, 2, 5
Nav1.5 1, 2
PFHB1 1, 2
SSS1 1, 2, 5
Descriptions
Sodium channel protein cardiac muscle subunit alpha 3
Sodium channel protein type V subunit alpha 3
Voltage-gated sodium channel subunit alpha Nav1.5 3
cardiac sodium channel alpha subunit 2
cardiac tetrodotoxin-insensitive voltage-dependent sodium
channel alpha subunit 2
sodium channel protein type V alpha subunit 2
sodium channel, voltage-gated, type V, alpha (long QT
syndrome 3) 1
sodium channel, voltage-gated, type V, alpha subunit 2
voltage-gated sodium channel type V alpha 2
External Ids
HGNC: 105931
Entrez Gene: 63312
UniProtKB: Q145243
Ensembl: ENSG000001838737
Search outside databases for aliases for SCN5A gene

Previous GC identifers: GC03U990070 GC03M038402 GC03M038550

Summaries
for SCN5A

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for SCN5A:
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant
voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is
responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in
this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease.
Alternative splicing results in several transcript variants encoding different isoforms. [provided
by RefSeq]

UniProtKB/Swiss-Prot: SCN5A_HUMAN, Q14524
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 Na(+) ions may pass in
accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel
isoform. This channel is responsible for the initial upstroke of the action potential in the
electrocardiogram

Gene Wiki entry for SCN5A (Nav1.5)

Genomic Location
for SCN5A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SCN5A gene  

Entrez Gene cytogenetic band: 3p21   Ensembl cytogenetic band:  3p22.2   HGNC cytogenetic band: 3p21

SCN5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M038565:     (about GC identifiers)

Start:
 38,564,557 bp from pter
End:
 38,666,167 bp from pter
Size:
 101,611 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000003.10  NT_022517.17  

Proteins
for SCN5A

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: SCN5A_HUMAN, Q14524 (See protein sequence)
Recommended Name: Sodium channel protein type 5 subunit alpha  
Size: 2016 amino acids; 226940 Da
Subunit: Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity).
Interacts with NEDD4, NEDD4L and WWP2
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Na(+) channels in mammalian cardiac membrane have functional properties quite
distinct from Na(+) channels in nerve and skeletal muscle
PDB structures from and Proteopedia :
2KBI (3D)    
Secondary accessions: A5H1P8 A6N922 A6N923 B2RTU0 Q75RX9 Q75RY0 Q86UR3 Q8IZC9 Q96J69
Alternative splicing: 6 isoforms:  Q14524-1   Q14524-2   Q14524-3   Q14524-4   Q14524-5   Q14524-6   

Post-translational modifications:

  • Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4
    or WWP21
  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (6 alternative transcripts): 
    NP_000326.2  NP_001092874.1  NP_001092875.1  NP_001153632.1  NP_001153633.1  NP_932173.1  


    ENSEMBL proteins: 
    ENSP00000333674 ENSP00000382199 ENSP00000382198 ENSP00000328968 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant SCN5A Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Nav1.5)
    Human Recombinant Proteins from Abnova (SCN5A)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001518 voltage-gated sodium channel complex IEA--
    GO:0014704 intercalated disc IEA--
    GO:0016021 integral to membrane IEA--
    GO:0030315 T-tubule IEA--
    About this table

    Antibodies for SCN5A: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of SCN5A
    Sigma-Aldrich Antibodies for SCN5A
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (Nav1.5), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (SCN5A)
    Novus Biologicals Antibodies for SCN5A

    Assays for SCN5A: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    Protein Domains/
    Families
    for SCN5A

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro domains/families:
     IPR001696 Na_channel
     IPR010526 Na_trans_assoc
     IPR000048 IQ_CaM_bd_region
     IPR005821 Ion_trans
     IPR008053 Na_channel5


       GeneDecks  SCN5A for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q14524

    ProtoNet protein and cluster: Q14524

    3 Blocks protein families:
    IPB000048 IQ calmodulin-binding region
    IPB001696 Voltage-gated Na+ channel alpha subunit signature
    IPB008053 Voltage-gated Na+ channel alpha 5 subunit signature


    UniProtKB/Swiss-Prot: SCN5A_HUMAN, Q14524
    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 family
    Similarity: Contains 1 IQ domain

    Gene Function
    for SCN5A

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (SCN5A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SCN5A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001099404

                  Applied Biosystems Silencer® siRNAs for SCN5A

                  Sigma-Aldrich siRNA and siRNA Panels for SCN5A  
                         Sigma-Aldrich shRNA Panels and shRNA for SCN5A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SCN5A
    Millipore Clones for the Expression of SCN5A
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000335
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000335
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_000335 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001099404

    UniProtKB/Swiss-Prot: SCN5A_HUMAN, Q14524
    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 Na(+) ions may pass in
    accordance with their electrochemical gradient. It is a tetrodotoxin-resistant Na(+) channel
    isoform. This channel is responsible for the initial upstroke of the action potential in the
    electrocardiogram

    Genatlas biochemistry entry for SCN5A:
    sodium voltage-gated channel,type V,alpha polypeptide,tetradotoxin-resistant,heart

    11 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Scn5a):

    behavior/neurologicalcellularembryogenesisgrowth/size
    lethality-postnatallethality-prenatal/perinatallife span-post-weaning/agingmusclenervous system
    normal

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005248 voltage-gated sodium channel activity TAS7651517
    GO:0005515 protein binding IPI17060380
    GO:0031402 sodium ion binding IEA--
    About this table

    Pathways & Interactions
    for SCN5A

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for SCN5A
      inward current

       GeneDecks  SCN5A for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  SCN5A 


    5/26 Interacting proteins for SCN5A (Q145242 ENSP000003289683) via UniProtKB, MINT, and/or STRING (see all 26 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNTG2Q9NY992, ENSP000003118373MINT-58717 MINT-58718 STRING (score=.784)
    KCNE1ENSP000003372553STRING (score=.968)
    KCNQ1ENSP000003701533STRING (score=.968)
    KCNE2ENSP000002903103STRING (score=.967)
    KCNH2ENSP000002621863STRING (score=.967)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811 ion transport IEA--
    GO:0006814 sodium ion transport TAS7651517
    GO:0006936 muscle contraction TAS7889574
    GO:0008015 blood circulation NAS7889574
    GO:0008016 regulation of heart contraction TAS9521325
    About this table

    Drugs & Compounds
    for SCN5A

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for SCN5A
    Sigma-Aldrich Small Molecules for SCN5A:
    Blocker Inhibitor Ligand

    Compounds for SCN5A available from Tocris Bioscience
    CompoundAction CAS number
    VinpocetineNa+ channel blocker[42971-09-5]
    Co 102862State-dependent Na+ channel blocker; anticonvulsant[181144-66-1]
    QX 314 chlorideNa+ channel blocker[5369-03-9]
    Flecainide acetateCardiac Na+ channel blocker. Antiarrhythmic[54143-56-5]
    Tetrodotoxin citrateCitrate salt of Cat. No. 1078[18660-81-6]
    About this table


    8 Novoseek chemical compound relationships for SCN5A gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 86.19 257 18436145 (4), 14753626 (3), 18591664 (3), 14654377 (3) (see all 99)
    potassium 49.94 23 8873679 (2), 10613047 (2), 9570196 (1), 11259355 (1) (see all 15)
    asparagine 7.80 1 15877619 (1)
    lysine 0.00 3 12181125 (1), 18065446 (1)
    oligonucleotide 0.00 3 8661019 (1), 18552167 (1)
    calcium 0.00 13 11807557 (2), 17110414 (2), 8567977 (1), 10533584 (1) (see all 7)
    threonine 0.00 1 18065446 (1)
    isoleucine 0.00 1 17081365 (1)
    About this table

    9 PharmGKB drug compound relationships for SCN5A gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    QT-Prolonging DrugsPD  12193783
    amiodaronePD  12193783
    antiarrhythmicsCO  PD  FA  GN  1309946 9950665
    clarithromycinPD  12193783
    doxorubicin hydrochloridePD  12193783
    erythromycinPD  12193783
    mexiletinePD  8521555
    sulfamethoxazole/trimethroprimPD  12193783
    terfenadinePD  12193783
    About this table


    Transcripts
    for SCN5A

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section
    Inhib.
    RNA:    		Invitrogen RNAi Products for gene knock-down (SCN5A)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SCN5A)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_001099404

                  Sigma-Aldrich siRNA and siRNA Panels for SCN5A  
                         Sigma-Aldrich shRNA Panels and shRNA for SCN5A  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000335  NM_001099404  NM_001099405  NM_198056  

    REFSEQ mRNAs for SCN5A gene (6 alternative transcripts): 

    NM_000335.4   NM_001099404.1   NM_001099405.1   NM_001160160.1   NM_001160161.1   NM_198056.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000335  NM_001099404  NM_001099405  NM_198056  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000335
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000335
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_000335 

    Additional cDNA sequence: 

    AB158469.2 AB158470.2 AB208866.1 AF482988.1 AJ310886.1 AJ310887.1 AJ310888.1 AJ310889.1 
    AJ310890.1 AJ310891.1 AJ310892.1 AJ310893.1 AJ310894.1 AJ310895.1 AJ310896.1 AY038064.1 
    AY148488.1 BC051374.1 BC140813.1 BC144621.1 EF092292.1 EF092293.1 EF092294.1 EF092295.1 
    EF629346.1 EF629347.1 

    5 DOTS entries:

    DT.100745286  DT.75174024  DT.99955208  DT.120884034  DT.100697400 

    24/27 AceView cDNA sequences (see all 27 ):

    AJ310889 NM_198056 NM_000335 AJ310891 AJ310886 AJ310893 AF482988 AJ310890 
    AJ310896 AJ310888 AY148488 AJ310887 AJ310894 AB158470 BC051374 AY038064 
    AJ310892 AB158469 AJ310895 BM917024 BU846317 M77235 BU845010 BE391214 

    highest scoring ESTs for SCN5A:

    BU845010 BU846317 BU931459 M77235 AB158469 AB158470 AF482988 AI217550 AJ310886 AJ310887 

    Unigene Cluster for SCN5A:

    Sodium channel, voltage-gated, type V, alpha subunit
    Hs.517898  [show with all ESTs]
    Unigene Representative Sequence: NM_198056


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SCN5A

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8
    SP1:                          -                                                   
    SP2:                                                  -                 -         
    SP3:                                                  -     -     -               
    SP4:                                            -     -                 -         
    SP5:                                                                              

    About this scheme

    ECgene alternative splicing isoforms for SCN5A

    4 Ensembl transcripts including schematic representations:
    ENST00000327956  ENST00000399255  ENST00000399254  ENST00000333535  

    Expression
    for SCN5A

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SCN5A expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SCN5A

    1 / 2 / 3

    3 probe-sets matching SCN5A gene


    		Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    		31490_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 M77235 0.80 1.00 0.91 1

    		207413_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000335 0.60 1.00 0.82 1

    		207413_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.517898

    Expression variation in blood from EXPOLDB for SCN5A

    UniProtKB/Swiss-Prot: SCN5A_HUMAN, Q14524
    Tissue specificity: Found in jejunal circular smooth muscle cells (at protein level). Expressed in
    human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium,
    liver, or spleen. Isoform 4 is expressed in brain

    Orthologs
    for SCN5A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for SCN5A gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 SCN5A1   -- sodium channel, voltage-gated, type V, alpha subunit 90.59(n)
    94.08(a)    		 403497  NM_001002994.1  NP_001002994.1 
    chimpanzee
    (Pan troglodytes)    		 SCN5A1   -- sodium channel, voltage-gated, type V, alpha subunit 98.79(n)
    98.91(a)    		 747523  XM_001171891.1  XP_001171891.1 
    cow
    (Bos taurus)    		 SCN5A1   -- sodium channel, voltage-gated, type V, alpha subunit 90.18(n)
    92.51(a)    		 282061  NM_174458.2  NP_776883.1 
    rat
    (Rattus norvegicus)    		 Scn5a1   -- sodium channel, voltage-gated, type 5, alpha subunit 89.1(n)
    93.9(a)    		 25665  NM_013125.1  NP_037257.1 
    mouse
    (Mus musculus)    		 Scn5a1, 5 9 (70.00 cM)5
    		 sodium channel, voltage-gated, type V, alpha1, 5 89.53(n)1
    94.74(a)1    		 202711  NM_021544.31  NP_067519.21 
     AJ2714775  AJ6232735  (see all 12)
    About this table        Species with no ortholog for SCN5A

    ENSEMBL Gene Tree for SCN5A

    Paralogs
    for SCN5A

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SCN5A gene
    SCN11A2  SCN10A2  

    SNPs/Variants
    for SCN5A

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/930 NCBI SNPs in SCN5A are shown (see all 930 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 211)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ------------
    --
    rs74299451,2
    		A,C,F,H38566693(+) GGGGCT/CGAGGC 4 -- ut31 ese312Minor allele frequency- C:0.47EU EA WA NS 1252
    rs111297951,2
    		A,C,F,H38564167(+) ataagG/Acattt 4 -- ng518Minor allele frequency- A:0.18EU EA WA NS 766
    --
    rs67919241,2
    		A,C,F,H38649703(+) GCCGCG/AGGCTT 4 C/R mis110Minor allele frequency- A:0.03EU EA WA NS 1628
    rs98252941,2
    		A,C,F,H38667260(+) CCAGGA/GCCTAT 4 -- ng3111Minor allele frequency- G:0.12EU EA WA NS 1104
    rs18051241,2
    		A,C,F,H38620424(-) CCACCA/GCACAT 4 H/R mis1 ese324Minor allele frequency- G:0.18NA EU EA WA NS 2882
    --
    rs40737971,2
    		A,C,F38565854(+) TTCCGA/TTGGCT 4 -- ut31 ese38Minor allele frequency- T:0.42NS 844
    --
    rs40737961,2
    		A,C,F38565853(+) CTTCCG/AATGGC 4 -- ut31 ese38Minor allele frequency- A:0.42NS 844
    --
    rs413154931,2
    		C,F38567016(+) CATCAC/AGTAGG 4 L/V mis15Minor allele frequency- A:0.02NS 574
    --
    rs413130151,2
    		C,F38565320(+) TGCTCA/CGGCTT 4 -- ut315Minor allele frequency- C:0.01NS 558
    --
    rs98246781,2
    		C,F38666865(+) GAGACA/GCACAC 4 -- ng316Minor allele frequency- G:0.05NS 670
    About this table

    HapMap Linkage Disequilibrium images for SCN5A (up to first 250kb)

    Disorders & Mutations
    for SCN5A

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    		 OMIM: 600163   disorders: 603830  601144  113900  113900  603829  608567  601154  272120  

    UniProtKB/Swiss-Prot: SCN5A_HUMAN, Q14524

  • Defects in SCN5A are a cause of progressive familial heart block type 1A (PFHB1A)
    [MIM:113900]; also known as Lenegre-Lev disease or progressive cardiac conduction defect (PCCD).
    PFHB1A is an autosomal dominant cardiac bundle branch disorder that may progress to complete heart
    block. PFHB1A is characterized by progressive alteration of cardiac conduction through the
    His-Purkinje system with right or left bundle branch block and widening of QRS complexes, leading
    to complete atrio-ventricular block and causing syncope and sudden death
  • Defects in SCN5A are the cause of long QT syndrome type 3 (LQT3) [MIM:603830]. Long QT
    syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic
    ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional
    stress. LQT3 inheritance is an autosomal dominant
  • Defects in SCN5A are the cause of Brugada syndrome (BRS1) [MIM:601144]. BRS1 is an
    autosomal dominant tachyarrhythmia characterized by right bundle branch block and ST segment
    elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the
    blood is prevented from circulating efficiently in the body. When this situation occurs (called
    ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is
    not reset
  • Defects in SCN5A are the cause of sick sinus syndrome type 1 (SSS1) [MIM:608567]. The term
    'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The
    most common clinical manifestations are syncope, presyncope, dizziness, and fatigue.
    Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block.
    Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia
    syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with
    underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or
    child without heart disease or other contributing factors, in which case it is considered to be a
    congenital disorder
  • Defects in SCN5A are a cause of idiopathic ventricular fibrillation (IVF) [MIM:603829];
    also called paroxysmal familial ventricular fibrillation. IVF is a self originated, of unknown
    causation, ventricular fibrillation that causes the ventricles to beat so fast that they can
    prevent the blood from circulating efficiently in the body. This disorder is not truly idiopathic
    in many cases but can be caused by specific mutations such as those in the SCN5A gene. IVF is said
    to cause more than 300,000 sudden deaths each year in the United States alone. In approximately 5
    to 12% of cases, there are no demonstrable cardiac or non-cardiac causes to account for the
    episode, which is therefore classified as idiopathic ventricular fibrillation
  • Defects in SCN5A can be a cause of sudden infant death syndrome (SIDS) [MIM:272120]. SIDS
    is the sudden death of an infant younger than 1 year that remains unexplained after a thorough
    case investigation, including performance of a complete autopsy, examination of the death scene,
    and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory
    dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism,
    but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Long QT
    syndromes-associated mutations can be responsible for some of SIDS cases
  • Defects in SCN5A may be a cause of familial atrial standstill [MIM:108770]. Atrial
    standstill is an extremely rare arrhythmia, characterized by the absence of electrical and
    mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia,
    the absence of P waves, and a junctional narrow complex escape rhythm
  • Defects in SCN5A are the cause of cardiomyopathy dilated type 1E (CMD1E) [MIM:601154];
    also known as dilated cardiomyopathy with conduction disorder and arrhythmia or dilated
    cardiomyopathy with conduction defect 2. Dilated cardiomyopathy is a disorder characterized by
    ventricular dilation and impaired systolic function, resulting in congestive heart failure and
    arrhythmia. Patients are at risk of premature death

    • 10/37 Novoseek disease relationships for SCN5A gene (see all 37 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    brugada syndrome 97.81 237 17227473 (7), 16325048 (5), 19100032 (5), 11748104 (4) (see all 99)
    long qt syndrome 94.90 65 8521555 (2), 19083750 (2), 14654377 (2), 10200053 (1) (see all 53)
    ventricular fibrillation, idiopathic 90.98 15 10940383 (2), 12693506 (1), 14985827 (1), 17897138 (1) (see all 14)
    long qt syndrome 3 89.05 6 16707561 (1), 18408010 (1), 19041666 (1), 17110414 (1) (see all 5)
    death sudden 85.23 27 10590249 (2), 18361072 (2), 11289718 (1), 16707561 (1) (see all 23)
    death sudden cardiac 84.69 9 15890323 (1), 16132053 (1), 16943925 (1), 17556186 (1) (see all 7)
    arrhythmia 83.47 86 18368697 (5), 18708744 (2), 15123648 (2), 19027780 (2) (see all 52)
    romano-ward syndrome 83.42 3 18752142 (1), 10973849 (1), 10508990 (1)
    right bundle branch block 81.64 3 16943925 (1), 10940383 (1), 10662748 (1)
    defect conduction 80.89 19 11748104 (3), 16707561 (2), 16643399 (2), 17897635 (2) (see all 12)
    About this table

    9 PharmGKB disease relationships for SCN5A gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Abortion, HabitualCO  GN  15184283
    Heart ArrestPD  12193783
    Long QT SyndromeCO  PD  GN  8521555 9950665
    SeizuresPD  12193783
    SyncopePD  12193783
    Tachycardia, VentricularPD  12193783
    Torsades de PointesPD  12193783
    Ventricular FibrillationPD  12193783
    cardiac arrhythmiaPD  FA  12193783 1309946
    About this table

    GeneTests: SCN5A
    Brugada Syndrome

    Human Gene Mutation Database: SCN5A
    Genetic Association Database: SCN5A
    Human Genome Epidemiology Navigator: SCN5A (65 documents)

    Medical News
    for SCN5A

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    		   --

    Publications
    for SCN5A

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    		10/417 PubMed articles for SCN5A gene (see all 417 ):

    Search for SCN5A

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
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    Genome Databases showing SCN5A

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section
    Entrez Gene: 6331 HGNC: 10593 AceView: SCN5A Ensembl:ENSG00000183873 euGenes: HUgn6331
    ECgene: SCN5A H-InvDB: SCN5A

    Other Databases showing SCN5A

    (According to HUGE)
    About This Section

    		   --

    Specialized Databases showing SCN5A

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    LQTSdbhttp://www.ssi.dk/graphics/html/lqtsdb/scn5a.htm
    GeneReviewshttp://www.genetests.org/query?gene=SCN5A

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