SCN5A (sodium voltage-gated channel alpha subunit 5)

2007-02-01 Affiliation

Identity

HGNC

SCN5A

LOCATION

3p22.2

LOCUSID

6331

ALIAS

CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 6331
MIM: 600163
HGNC: 10593
Ensembl: ENSG00000183873

Variants:

dbSNP: 6331
ClinVar: 6331
TCGA: ENSG00000183873
COSMIC: SCN5A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183873	ENST00000327956	A3EY21
ENSG00000183873	ENST00000333535	Q14524
ENSG00000183873	ENST00000413689	H9KVD2
ENSG00000183873	ENST00000414099	E9PG18
ENSG00000183873	ENST00000423572	Q14524
ENSG00000183873	ENST00000425664	E9PG18
ENSG00000183873	ENST00000449557	A0A0A0MT39
ENSG00000183873	ENST00000450102	K4DIA1
ENSG00000183873	ENST00000451551	K4DIA1
ENSG00000183873	ENST00000455624	E9PHB6
ENSG00000183873	ENST00000612060	Q86V90

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Muscle contraction	REACTOME	R-HSA-397014
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
L1CAM interactions	REACTOME	R-HSA-373760
Interaction between L1 and Ankyrins	REACTOME	R-HSA-445095
Cardiac conduction	REACTOME	R-HSA-5576891
Phase 0 - rapid depolarisation	REACTOME	R-HSA-5576892

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD	PMIDs
PA10389	non-selective monoamine reuptake inhibitors	Chemical	VipGene	associated
PA159018367	Brugada syndrome	Disease	DataAnnotation, Literature, VariantAnnotation, VipGene	associated	PD	23788249, 31484910
PA165819248	SCN5A Haplotype B	Haplotype	VipGene	associated		16415376
PA166156333	rs1805124	Variant	VipGene	associated		14500339, 15851227, 11997281
PA166156414	rs6791924	Variant	VipGene	associated		15851227, 11997281
PA166186035	pilsicainide	Chemical	VariantAnnotation	associated	PD	31484910
PA212	KCNH2	Gene	DataAnnotation	associated
PA223	KCNQ1	Gene	DataAnnotation	associated
PA443459	Atrial Fibrillation	Disease	VariantAnnotation	associated	PD	31484910
PA444366	Heart Block	Disease	VipGene	associated
PA444807	Long QT Syndrome	Disease	VipGene	associated
PA445659	Sick Sinus Syndrome	Disease	VipGene	associated
PA445769	Sudden Infant Death	Disease	VipGene	associated
PA446028	Ventricular Fibrillation	Disease	VariantAnnotation, VipGene	associated	PD	31484910
PA447184	Romano-Ward Syndrome	Disease	DataAnnotation	associated
PA448383	amiodarone	Chemical	VipGene	associated
PA449072	cocaine	Chemical	VipGene	associated
PA449373	disopyramide	Chemical	VipGene	associated
PA449646	flecainide	Chemical	VipGene	associated
PA450226	lidocaine	Chemical	VipGene	associated
PA450243	lithium	Chemical	VipGene	associated
PA450488	mexiletine	Chemical	VipGene	associated
PA451108	procainamide	Chemical	VipGene	associated
PA451131	propafenone	Chemical	VipGene	associated
PA451209	quinidine	Chemical	VipGene	associated

References

Pubmed ID	Year	Title	Citations
11136691	2001	Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.	322
19305408	2009	Common variants at ten loci influence QT interval duration in the QTGEN Study.	190
20062060	2010	Genome-wide association study of PR interval.	185
20129283	2010	An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.	181
15840476	2005	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.	177
19305409	2009	Common variants at ten loci modulate the QT interval duration in the QTSCD Study.	162
15579534	2004	Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.	141
15671429	2005	Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.	138
16061851	2005	Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis.	128
12193783	2002	Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.	127

Citation

Dessen P

SCN5A (sodium voltage-gated channel alpha subunit 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45877/scn5a