SCN5A sodium voltage-gated channel alpha subunit 5
Gene ID: 6331, updated on 22-Mar-2023Gene type: protein coding
Also known as: HB1; HB2; HH1; IVF; VF1; HBBD; ICCD; LQT3; SSS1; CDCD2; CMD1E; CMPD2; PFHB1; Nav1.5
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- Go to complete Gene record for SCN5A
- Go to Variation Viewer for SCN5A variants
Summary
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 have been associated with long QT syndrome type 3 (LQT3), atrial fibrillation, cardiomyopathy, and Brugada syndrome 1, all autosomal dominant cardiac diseases. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Atrial fibrillation, familial, 10 | See labs |
| Brugada syndrome 1 | See labs |
| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. GeneReviews: Not available | |
| Common variants at ten loci influence QT interval duration in the QTGEN Study. GeneReviews: Not available | |
| Common variants at ten loci modulate the QT interval duration in the QTSCD Study. GeneReviews: Not available | |
| Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. GeneReviews: Not available | |
| Dilated cardiomyopathy 1E | See labs |
| Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. GeneReviews: Not available | |
| Genetic determinants of P wave duration and PR segment. GeneReviews: Not available | |
| Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. GeneReviews: Not available | |
| Genome-wide association studies of the PR interval in African Americans. GeneReviews: Not available | |
| Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. GeneReviews: Not available | |
| Genome-wide association study of PR interval. GeneReviews: Not available | |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. GeneReviews: Not available | |
| Long QT syndrome MedGen: C0023976GeneReviews: Long QT Syndrome | See labs |
| Long QT syndrome 3 | See labs |
| Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. GeneReviews: Not available | |
| Progressive familial heart block, type 1A | See labs |
| Several common variants modulate heart rate, PR interval and QRS duration. GeneReviews: Not available | |
| Sick sinus syndrome 1 | See labs |
| SUDDEN INFANT DEATH SYNDROME | See labs |
| Ventricular fibrillation, paroxysmal familial, type 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-08) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-06-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 3p22.2
- Sequence:
- Chromosome: 3; NC_000003.12 (38548062..38649687, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for SCN5A variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SCN5A @ LOVD
- SCN5A @ ZAC-GGM
- SNP: GeneViewSNPs linked from GeneView
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