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Aliases for SCN5A Gene

Aliases for SCN5A Gene

  • Sodium Channel, Voltage Gated, Type V Alpha Subunit 2 3
  • Sodium Channel, Voltage-Gated, Type V, Alpha Subunit 2 3
  • Sodium Channel Protein Cardiac Muscle Subunit Alpha 3 4
  • Voltage-Gated Sodium Channel Subunit Alpha Nav1.5 3 4
  • CDCD2 3 6
  • CMD1E 3 6
  • SSS1 3 6
  • LQT3 3 6
  • Hb1 3 6
  • HH1 3 4
  • VF1 3 6
  • Cardiac Tetrodotoxin-Insensitive Voltage-Dependent Sodium Channel Alpha Subunit 3
  • Sodium Channel, Voltage-Gated, Type V, Alpha (Long QT Syndrome 3) 2
  • Sodium Channel Protein Type 5 Subunit Alpha 3
  • Sodium Channel Protein Type V Subunit Alpha 4
  • Long QT Syndrome 3 2
  • Nav1.5 3
  • PFHB1 3
  • CMPD2 3
  • HBBD 3
  • ICCD 3
  • HB2 3
  • IVF 3

External Ids for SCN5A Gene

Previous Symbols for SCN5A Gene

  • CMD1E

Summaries for SCN5A Gene

Entrez Gene Summary for SCN5A Gene

  • 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, Jul 2008]

GeneCards Summary for SCN5A Gene

SCN5A (Sodium Channel, Voltage Gated, Type V Alpha Subunit) is a Protein Coding gene. Diseases associated with SCN5A include atrial fibrillation, familial, 10 and sick sinus syndrome 1. Among its related pathways are L1CAM interactions and Activation of cAMP-Dependent PKA. GO annotations related to this gene include enzyme binding and ubiquitin protein ligase binding. An important paralog of this gene is CACNA1D.

UniProtKB/Swiss-Prot for SCN5A Gene

  • 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. Channel inactivation is regulated by intracellular calcium levels.

Tocris Summary for SCN5A 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 SCN5A Gene

PharmGKB "VIP" Summary for SCN5A Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for SCN5A Gene

Genomics for SCN5A Gene

Genomic Location for SCN5A Gene

Start:
38,548,057 bp from pter
End:
38,649,673 bp from pter
Size:
101,617 bases
Orientation:
Minus strand

Genomic View for SCN5A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SCN5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SCN5A Gene

Regulatory Elements for SCN5A Gene

Proteins for SCN5A Gene

  • Protein details for SCN5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14524-SCN5A_HUMAN
    Recommended name:
    Sodium channel protein type 5 subunit alpha
    Protein Accession:
    Q14524
    Secondary Accessions:
    • A5H1P8
    • A6N922
    • A6N923
    • B2RTU0
    • E7ET19
    • E9PEF3
    • E9PEK2
    • E9PFW7
    • Q59H93
    • Q75RX9
    • Q75RY0
    • Q86UR3
    • Q8IZC9
    • Q96J69

    Protein attributes for SCN5A Gene

    Size:
    2016 amino acids
    Molecular mass:
    226940 Da
    Quaternary structure:
    • Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 (By similarity). Interacts with NEDD4, NEDD4L, WWP2 and GPD1L. Interacts with CALM. Interacts with FGF13; the interaction is direct and may regulate SNC5A density at membranes and function.
    Miscellaneous:
    • Na(+) channels in mammalian cardiac membrane have functional properties quite distinct from Na(+) channels in nerve and skeletal muscle

    Three dimensional structures from OCA and Proteopedia for SCN5A Gene

    Alternative splice isoforms for SCN5A Gene

neXtProt entry for SCN5A Gene

Proteomics data for SCN5A Gene at MOPED

Post-translational modifications for SCN5A Gene

  • Phosphorylation at Ser-1503 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.
  • Regulated through phosphorylation by CaMK2D.
  • Ubiquitinated by NEDD4L; which promotes its endocytosis. Does not seem to be ubiquitinated by NEDD4 or WWP2.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn214, Asn283, Asn288, Asn291, Asn318, Asn328, Asn740, Asn803, Asn864, Asn1365, Asn1374, Asn1380, Asn1388, and Asn1736

No data available for DME Specific Peptides for SCN5A Gene

Domains for SCN5A Gene

Gene Families for SCN5A Gene

HGNC:
  • SC :Sodium channels
  • SCN :Voltage-gated ion channels / Sodium channels
IUPHAR :

UniProtKB/Swiss-Prot:

SCN5A_HUMAN
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:
    • Q14524
  • The IQ domain mediates association with calmodulin:
    • Q14524
  • Contains 1 IQ domain.:
    • Q14524
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily.:
    • Q14524
genes like me logo Genes that share domains with SCN5A: view

Function for SCN5A Gene

Molecular function for SCN5A Gene

GENATLAS Biochemistry: sodium voltage-gated channel,type V,alpha polypeptide,tetradotoxin-resistant,heart
UniProtKB/Swiss-Prot 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. Channel inactivation is regulated by intracellular calcium levels.

Gene Ontology (GO) - Molecular Function for SCN5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005248 voltage-gated sodium channel activity IDA 14500339
GO:0005515 protein binding IPI 11807557
GO:0005516 calmodulin binding IPI 21167176
GO:0017134 fibroblast growth factor binding IPI 12401812
genes like me logo Genes that share ontologies with SCN5A: view
genes like me logo Genes that share phenotypes with SCN5A: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SCN5A Gene

Localization for SCN5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SCN5A Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SCN5A Gene COMPARTMENTS Subcellular localization image for SCN5A gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 4
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for SCN5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001518 voltage-gated sodium channel complex IDA 19808477
GO:0005783 endoplasmic reticulum IDA 22529811
GO:0005886 plasma membrane IDA 16728661
GO:0005901 colocalizes_with caveola TAS 17060380
GO:0009986 cell surface IDA 14500339
genes like me logo Genes that share ontologies with SCN5A: view

Pathways for SCN5A Gene

genes like me logo Genes that share pathways with SCN5A: view

Gene Ontology (GO) - Biological Process for SCN5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IMP 10471492
GO:0003231 cardiac ventricle development ISS --
GO:0003360 brainstem development ISS --
GO:0006811 ion transport --
GO:0006814 sodium ion transport IDA 19074138
genes like me logo Genes that share ontologies with SCN5A: view

Compounds for SCN5A Gene

(5) Tocris Compounds for SCN5A Gene

Compound Action Cas Number
Phrixotoxin 3 Potent modulator of NaV1.2, NaV1.3 and NaV1.5 channels [880886-00-0]
QX 314 chloride Na+ channel blocker [5369-03-9]
Tetrodotoxin Na+ channel blocker [4368-28-9]
Tetrodotoxin citrate Na+ channel blocker. Citrate salt of tetrodotoxin (Cat. No. 1078) [18660-81-6]
Veratridine Voltage-gated Na+ channel opener [71-62-5]

(2) HMDB Compounds for SCN5A Gene

Compound Synonyms Cas Number PubMed IDs
Sodium
  • Sodium
7440-23-5
Verapamil
  • Akilen
52-53-9

(29) Drugbank Compounds for SCN5A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Ajmaline
4360-12-7 target inhibitor
Aprindine
  • Aprindin
37640-71-4 target inhibitor
Benzonatate
  • Benzonatato [INN-Spanish]
104-31-4 target antagonist
Carbamazepine
  • Carbamezepine
298-46-4 target inhibitor
Cocaine
  • (−)-cocaine
50-36-2 target inhibitor

(8) IUPHAR Ligand for SCN5A Gene

Ligand Type Action Affinity Pubmed IDs
tetrodotoxin Pore Blocker Antagonist 7.6
AFT-II Gating inhibitor Antagonist 7.5
ATX-II Gating inhibitor Antagonist 7.3
Bc-III Gating inhibitor Antagonist 6.1
lidocaine Pore Blocker Antagonist 4.8
aconitine Activator Agonist
veratridine Activator None
batrachotoxin Activator None

(22) Novoseek inferred chemical compound relationships for SCN5A Gene

Compound -log(P) Hits PubMed IDs
sodium 87 141
ajmaline 83.4 5
mexiletine 83.1 7
flecainide 82 12
pilsicainide 78.6 1
genes like me logo Genes that share compounds with SCN5A: view

Transcripts for SCN5A Gene

Unigene Clusters for SCN5A Gene

Sodium channel, voltage-gated, type V, alpha subunit:
Representative Sequences:

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

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

Relevant External Links for SCN5A Gene

GeneLoc Exon Structure for
SCN5A
ECgene alternative splicing isoforms for
SCN5A

Expression for SCN5A Gene

mRNA expression in normal human tissues for SCN5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SCN5A Gene

This gene is overexpressed in Heart - Left Ventricle (27.1) and Heart - Atrial Appendage (15.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SCN5A Gene

SOURCE GeneReport for Unigene cluster for SCN5A Gene Hs.517898

mRNA Expression by UniProt/SwissProt for SCN5A Gene

Q14524-SCN5A_HUMAN
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.
genes like me logo Genes that share expressions with SCN5A: view

Orthologs for SCN5A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SCN5A 36
  • 98.79 (n)
  • 98.91 (a)
SCN5A 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SCN5A 36
  • 90.64 (n)
  • 92.86 (a)
SCN5A 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN5A 36
  • 91.02 (n)
  • 94.43 (a)
SCN5A 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn5a 36
  • 89.1 (n)
  • 94.39 (a)
Scn5a 16
Scn5a 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SCN5A 37
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN5A 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn5a 36
  • 89.61 (n)
  • 94.24 (a)
chicken
(Gallus gallus)
Aves SCN5A 36
  • 72.41 (n)
  • 78.06 (a)
SCN5A 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN5A 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn5a 36
  • 69.23 (n)
  • 72.32 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01063402.1 37
  • 61 (a)
ManyToMany
scn12aa 36
  • 67.12 (n)
  • 69.39 (a)
scn1a 37
  • 59 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta NaCP60E 38
  • 63 (a)
para 38
  • 49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9565 36
Species with no ortholog for SCN5A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SCN5A Gene

ENSEMBL:
Gene Tree for SCN5A (if available)
TreeFam:
Gene Tree for SCN5A (if available)

Paralogs for SCN5A Gene

genes like me logo Genes that share paralogs with SCN5A: view

Variants for SCN5A Gene

Sequence variations from dbSNP and Humsavar for SCN5A Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1805124 Pathogenic, - 38,603,929(-) CCACC(A/G)CACAT reference, missense
rs1805125 Likely benign, - 38,579,455(-) CCCTC(C/T)GGATT reference, missense, intron-variant
rs1805126 Benign 38,550,915(-) GCCGA(C/T)GCCCT synonymous-codon, reference
rs3918389 Pathogenic, - 38,603,948(-) CAGCG(A/C/G/T)GGGAG missense, reference
rs3922843 -- 38,582,852(-) ATGCC(C/T)TACCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SCN5A Gene

Variant ID Type Subtype PubMed ID
esv2725164 CNV Deletion 23290073
nsv3770 CNV Insertion 18451855
nsv876708 CNV Loss 21882294
nsv876709 CNV Gain 21882294
nsv508912 CNV Insertion 20534489
esv267664 CNV Insertion 20981092
esv272685 CNV Insertion 20981092
nsv517802 CNV Loss 19592680
nsv876710 CNV Gain 21882294
nsv819980 CNV Loss 19587683

Relevant External Links for SCN5A Gene

HapMap Linkage Disequilibrium report
SCN5A
Human Gene Mutation Database (HGMD)
SCN5A
Locus Specific Mutation Databases (LSDB)
SCN5A

Disorders for SCN5A Gene

(8) OMIM Diseases for SCN5A Gene (600163)

UniProtKB/Swiss-Prot

SCN5A_HUMAN
  • Progressive familial heart block 1A (PFHB1A) [MIM:113900]: A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. {ECO:0000269 PubMed:12569159, ECO:0000269 PubMed:12574143, ECO:0000269 PubMed:19251209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Long QT syndrome 3 (LQT3) [MIM:603830]: A heart disorder 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, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269 PubMed:10377081, ECO:0000269 PubMed:10508990, ECO:0000269 PubMed:10627139, ECO:0000269 PubMed:10911008, ECO:0000269 PubMed:10973849, ECO:0000269 PubMed:11304498, ECO:0000269 PubMed:11997281, ECO:0000269 PubMed:12209021, ECO:0000269 PubMed:12673799, ECO:0000269 PubMed:15840476, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:18060054, ECO:0000269 PubMed:18708744, ECO:0000269 PubMed:18848812, ECO:0000269 PubMed:18929331, ECO:0000269 PubMed:7651517, ECO:0000269 PubMed:7889574, ECO:0000269 PubMed:8541846, ECO:0000269 PubMed:9506831, ECO:0000269 PubMed:9686753, ECO:0000269 Ref.30}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brugada syndrome 1 (BRGDA1) [MIM:601144]: A 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, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269 PubMed:11748104, ECO:0000269 PubMed:11901046, ECO:0000269 PubMed:12051963, ECO:0000269 PubMed:12106943, ECO:0000269 PubMed:15023552, ECO:0000269 PubMed:15338453, ECO:0000269 PubMed:15579534, ECO:0000269 PubMed:15851320, ECO:0000269 PubMed:16266370, ECO:0000269 PubMed:16325048, ECO:0000269 PubMed:16616735, ECO:0000269 PubMed:17075016, ECO:0000269 PubMed:17081365, ECO:0000269 PubMed:17198989, ECO:0000269 PubMed:18252757, ECO:0000269 PubMed:18341814, ECO:0000269 PubMed:18451998, ECO:0000269 PubMed:18456723, ECO:0000269 PubMed:18616619, ECO:0000269 PubMed:19251209, ECO:0000269 PubMed:19272188, ECO:0000269 PubMed:9521325}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sick sinus syndrome 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. SSS1 onset is in utero, infancy, or early childhood. {ECO:0000269 PubMed:14523039, ECO:0000269 PubMed:22795782}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM:603829]: A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. {ECO:0000269 PubMed:10940383}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:18596570, ECO:0000269 PubMed:19302788}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Atrial standstill 1 (ATRST1) [MIM:108770]: A 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. {ECO:0000269 PubMed:12522116}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A mutation in SCN5A has been detected in combination with a rare GJA5 genotype in a large family with atrial standstill.
  • Cardiomyopathy, dilated 1E (CMD1E) [MIM:601154]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:15466643}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrial fibrillation, familial, 10 (ATFB10) [MIM:614022]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:18088563, ECO:0000269 PubMed:18378609}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(39) Novoseek inferred disease relationships for SCN5A Gene

Disease -log(P) Hits PubMed IDs
brugada syndrome 98 183
long qt syndrome 94.9 60
long qt syndrome 3 91 5
ventricular fibrillation, idiopathic 90.9 16
death sudden cardiac 85.7 11

Relevant External Links for SCN5A

GeneTests
SCN5A
GeneReviews
SCN5A
Genetic Association Database (GAD)
SCN5A
Human Genome Epidemiology (HuGE) Navigator
SCN5A
genes like me logo Genes that share disorders with SCN5A: view

Publications for SCN5A Gene

  1. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. (PMID: 7889574) Wang Q. … Keating M.T. (Cell 1995) 3 4 23 49
  2. SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family. (PMID: 12471205) Chen S. … Wang Q. (J. Med. Genet. 2002) 3 4 23 49
  3. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). (PMID: 14523039) Benson D.W. … George A.L. Jr. (J. Clin. Invest. 2003) 3 4 23 49
  4. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. (PMID: 15466643) McNair W.P. … Mestroni L. (Circulation 2004) 2 3 4 23
  5. Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. (PMID: 15338453) Shin D.-J. … Yoon S.K. (J. Hum. Genet. 2004) 3 4 23 49

Products for SCN5A Gene

Sources for SCN5A Gene

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