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SCN5A sodium voltage-gated channel alpha subunit 5

Gene ID: 6331, updated on 22-Mar-2023
Gene type: protein coding
Also known as: HB1; HB2; HH1; IVF; VF1; HBBD; ICCD; LQT3; SSS1; CDCD2; CMD1E; CMPD2; PFHB1; Nav1.5


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

Atrial fibrillation, familial, 10
MedGen: C3151464OMIM: 614022GeneReviews: Not available
See labs
Brugada syndrome 1
MedGen: C4551804OMIM: 601144GeneReviews: Brugada Syndrome
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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 1ESee 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
MedGen: C1859062OMIM: 603830GeneReviews: Long QT Syndrome
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
MedGen: C1879286OMIM: 113900GeneReviews: Not available
See labs
Several common variants modulate heart rate, PR interval and QRS duration.
GeneReviews: Not available
Sick sinus syndrome 1
MedGen: C1837845OMIM: 608567GeneReviews: Not available
See labs
MedGen: C0038644OMIM: 272120GeneReviews: Not available
See labs
Ventricular fibrillation, paroxysmal familial, type 1
MedGen: C2751898OMIM: 603829GeneReviews: Not available
See labs

Copy number response

Copy number response

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-08)

ClinGen Genome Curation PagePubMed

No evidence available (Last evaluated 2021-06-08)

ClinGen Genome Curation Page

Genomic context

Chromosome: 3; NC_000003.12 (38548062..38649687, complement)
Total number of exons:


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