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Aliases for SCN5A Gene

Aliases for SCN5A Gene

  • Sodium Voltage-Gated Channel Alpha Subunit 5 2 3
  • Sodium Channel, Voltage Gated, Type V Alpha Subunit 2 3 5
  • 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
  • HH1 3 4
  • 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 V Subunit Alpha 4
  • Long QT Syndrome 3 2
  • Nav1.5 3
  • PFHB1 3
  • CDCD2 3
  • CMPD2 3
  • CMD1E 3
  • HBBD 3
  • ICCD 3
  • LQT3 3
  • SSS1 3
  • HB1 3
  • HB2 3
  • IVF 3
  • VF1 3

External Ids for SCN5A Gene

Previous HGNC Symbols for SCN5A Gene

  • CMD1E

Previous GeneCards Identifiers for SCN5A Gene

  • GC03U990070
  • GC03M038402
  • GC03M038550
  • GC03M038565
  • GC03M038589

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 Voltage-Gated Channel Alpha Subunit 5) is a Protein Coding gene. Diseases associated with SCN5A include long qt syndrome-3 and brugada syndrome 1. Among its related pathways are cGMP-PKG signaling pathway and Antiarrhythmic Pathway, Pharmacodynamics. GO annotations related to this gene include protein kinase binding and ubiquitin protein ligase binding. An important paralog of this gene is CACNA1G.

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.

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

Regulatory Elements for SCN5A Gene

Enhancers for SCN5A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SCN5A on UCSC Golden Path with GeneCards custom track

Promoters for SCN5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SCN5A on UCSC Golden Path with GeneCards custom track

Genomic Location for SCN5A Gene

Chromosome:
3
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

Genes around SCN5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SCN5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SCN5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Asn 214, Asn 283, Asn 288, Asn 291, Asn 318, Asn 328, Asn 740, Asn 803, Asn 864, Asn 1365, Asn 1374, Asn 1380, Asn 1388, and Asn 1736
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SCN5A Gene

Domains & Families for SCN5A Gene

Gene Families for SCN5A Gene

Graphical View of Domain Structure for InterPro Entry

Q14524

UniProtKB/Swiss-Prot:

SCN5A_HUMAN :
  • 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.
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily.
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.
  • The IQ domain mediates association with calmodulin.
  • Contains 1 IQ domain.
Family:
  • Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.5/SCN5A subfamily.
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:0005248 voltage-gated sodium channel activity IEA,IDA 14500339
GO:0019901 protein kinase binding IPI 22514276
GO:0019904 protein domain specific binding IPI 19943616
GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP 18616619
genes like me logo Genes that share ontologies with SCN5A: view
genes like me logo Genes that share phenotypes with SCN5A: view

Human Phenotype Ontology for SCN5A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SCN5A Gene

MGI Knock Outs for SCN5A:

Animal Model Products

  • Taconic Biosciences Mouse Models for SCN5A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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 5
plasma membrane 5
cytosol 2
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:0042383 sarcolemma IDA 17060380
genes like me logo Genes that share ontologies with SCN5A: view

Pathways & Interactions for SCN5A Gene

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

Pathways by source for SCN5A Gene

SIGNOR curated interactions for SCN5A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SCN5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003231 cardiac ventricle development ISS --
GO:0003360 brainstem development ISS --
GO:0006811 ion transport IEA --
GO:0007411 axon guidance TAS --
GO:0010765 positive regulation of sodium ion transport IDA 14500339
genes like me logo Genes that share ontologies with SCN5A: view

Drugs & Compounds for SCN5A Gene

(58) Drugs for SCN5A Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lidocaine Approved Pharma Antagonist, Pore Blocker, blocker, Target, inhibitor Anasthetic and class Ib antiarrhythmic agent 1138
Flecainide Approved, Withdrawn Pharma Pore Blocker, blocker, Target, inhibitor 41
Mexiletine Approved Pharma blocker, Target, inhibitor 20
Procainamide Approved Pharma blocker, Target, inhibitor 12
Aprindine Approved Pharma inhibitor, Target 0

(8) Additional Compounds for SCN5A Gene - From: Tocris, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
3',4'-Dihydrodiol
O-Desmethylverapamil (D-702)
Amiloride hydrochloride
2016-88-8
Flunarizine dihydrochloride
30484-77-6

(5) Tocris Compounds for SCN5A Gene

Compound Action Cas Number
Amiloride hydrochloride Na+ channel blocker; also I2 imidazoline ligand 2016-88-8
Flunarizine dihydrochloride Dual Na+/Ca2+ channel (T-type) blocker 30484-77-6
Riluzole hydrochloride Glutamate release inhibitor/GABA uptake inhibitor 850608-87-6
Veratridine Voltage-gated Na+ channel opener 71-62-5
Vinpocetine Na+ channel blocker 42971-09-5

(1) ApexBio Compounds for SCN5A Gene

Compound Action Cas Number
β-Pompilidotoxin Slows Na+ channel inactivation 216064-36-7
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 (x27.1) and Heart - Atrial Appendage (x15.9).

Protein differential expression in normal tissues from HIPED for SCN5A Gene

This gene is overexpressed in Plasma (46.9) and Pancreatic juice (16.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SCN5A: view

Protein tissue co-expression partners for SCN5A Gene

Primer Products

In Situ Assay Products

Orthologs for SCN5A Gene

This gene was present in the common ancestor of animals.

Orthologs for SCN5A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SCN5A 35
  • 90.64 (n)
  • 92.86 (a)
SCN5A 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SCN5A 35
  • 91.02 (n)
  • 94.43 (a)
SCN5A 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Scn5a 35
  • 89.1 (n)
  • 94.39 (a)
Scn5a 16
Scn5a 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SCN5A 35
  • 98.79 (n)
  • 98.91 (a)
SCN5A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Scn5a 35
  • 89.61 (n)
  • 94.24 (a)
oppossum
(Monodelphis domestica)
Mammalia SCN5A 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SCN5A 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SCN5A 35
  • 72.41 (n)
  • 78.06 (a)
SCN5A 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SCN5A 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia scn5a 35
  • 69.23 (n)
  • 72.32 (a)
zebrafish
(Danio rerio)
Actinopterygii scn12aa 35
  • 67.12 (n)
  • 69.39 (a)
CABZ01063402.1 36
  • 61 (a)
ManyToMany
scn1a 36
  • 59 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta NaCP60E 37
  • 63 (a)
para 37
  • 49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9565 35
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
rs28937317 Long QT syndrome 3 (LQT3) 38,560,418(-) GGTCA(A/G)TGCCC reference, missense
VAR_001578 Brugada syndrome 1 (BRGDA1)
VAR_001578 Long QT syndrome 3 (LQT3)
rs28937316 Long QT syndrome 3 (LQT3) 38,551,441(-) GATCC(A/G/T)CACGC reference, missense
VAR_001580 Long QT syndrome 3 (LQT3)

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

Variation tolerance for SCN5A Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.41; 77.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SCN5A Gene

HapMap Linkage Disequilibrium report
SCN5A
Human Gene Mutation Database (HGMD)
SCN5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SCN5A Gene

Disorders for SCN5A Gene

MalaCards: The human disease database

(55) MalaCards diseases for SCN5A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome-3
  • long qt syndrome 3
brugada syndrome 1
  • brugada syndrome
heart block, progressive, type ia
  • cardiac conduction defect
sudden infant death syndrome
  • cot death
sick sinus syndrome 1
  • sick sinus syndrome 1, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search SCN5A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SCN5A_HUMAN
  • 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.
  • 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.
  • 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:20129283, ECO:0000269 PubMed:9521325}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • 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:16414944, ECO:0000269 PubMed:16922724, ECO:0000269 PubMed:18060054, ECO:0000269 PubMed:18708744, ECO:0000269 PubMed:18848812, ECO:0000269 PubMed:18929331, ECO:0000269 PubMed:19716085, ECO:0000269 PubMed:7651517, ECO:0000269 PubMed:7889574, ECO:0000269 PubMed:8541846, ECO:0000269 PubMed:9506831, ECO:0000269 PubMed:9686753, ECO:0000269 Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • 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.
  • 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.

Relevant External Links for SCN5A

Genetic Association Database (GAD)
SCN5A
Human Genome Epidemiology (HuGE) Navigator
SCN5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SCN5A
genes like me logo Genes that share disorders with SCN5A: view

No data available for Genatlas for SCN5A Gene

Publications for SCN5A Gene

  1. SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. (PMID: 18368697) Shan L. … Towbin J.A. (Mol. Genet. Metab. 2008) 3 4 23 48 67
  2. Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model. (PMID: 20174578) Leoni A.L. … Charpentier F. (PLoS ONE 2010) 3 23 25 26
  3. Mechanism of right precordial ST-segment elevation in structural heart disease: excitation failure by current-to-load mismatch. (PMID: 20022821) Hoogendijk M.G. … Coronel R. (Heart Rhythm 2010) 23 25 26
  4. Prospective evaluation of the familial prevalence of the brugada syndrome. (PMID: 21126620) Hermida J.S. … Jarry G. (Am. J. Cardiol. 2010) 3 25 26
  5. Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. (PMID: 18599870) Barajas-Martinez H.M. … Dumaine R. (Circ. Res. 2008) 23 25 26

Products for SCN5A Gene

Sources for SCN5A Gene

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