• Gene id: 6331

Gene Summary

• Gene Symbol: SCN5A   Gene   UCSC   Ensembl
• Aliases: CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
• Gene name: sodium voltage-gated channel alpha subunit 5
• Alternate names: sodium channel protein type 5 subunit alpha, cardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunit, sodium channel protein cardiac muscle subunit alpha, sodium channel, voltage-gated, type V, alpha subunit, voltage-gated sodium chann,
• Gene location: 3p22.2 (38649686: 38548060)     Exons: 29     NC_000003.12
• Gene summary(Entrez): 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 e
• OMIM: 600760

Protein Summary

KEGG pathways

Pathway id	Pathway name
hsa04261	Adrenergic signaling in cardiomyocytes

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Long QT syndrome	KEGG:H00720
Atrial fibrillation	KEGG:H00731
Brugada syndrome	KEGG:H00728
Progressive cardiac conduction defect	KEGG:H01263
Sick sinus syndrome	KEGG:H00729
Familial idiopathic ventricular fibrillation	KEGG:H00730
Dilated cardiomyopathy	KEGG:H00294
Long QT syndrome	KEGG:H00720
Atrial fibrillation	KEGG:H00731
Brugada syndrome	KEGG:H00728
Progressive cardiac conduction defect	KEGG:H01263
Sick sinus syndrome	KEGG:H00729
Familial idiopathic ventricular fibrillation	KEGG:H00730
Arrhythmogenic right ventricular cardiomyopathy	PMID:23178689
Long QT syndrome 3	PMID:30566038
Long QT syndrome	PMID:15840476
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq