SCN5A (sodium voltage-gated channel alpha subunit 5)

2007-02-01  

Identity

HGNC
SCN5A
LOCATION
3p22.2
LOCUSID
6331
ALIAS
CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183873ENST00000327956A3EY21
ENSG00000183873ENST00000333535Q14524
ENSG00000183873ENST00000413689H9KVD2
ENSG00000183873ENST00000414099E9PG18
ENSG00000183873ENST00000423572Q14524
ENSG00000183873ENST00000425664E9PG18
ENSG00000183873ENST00000449557A0A0A0MT39
ENSG00000183873ENST00000450102K4DIA1
ENSG00000183873ENST00000451551K4DIA1
ENSG00000183873ENST00000455624E9PHB6
ENSG00000183873ENST00000612060Q86V90

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

PathwaySourceExternal ID
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Cardiac conductionREACTOMER-HSA-5576891
Phase 0 - rapid depolarisationREACTOMER-HSA-5576892

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10389non-selective monoamine reuptake inhibitorsChemicalVipGeneassociated
PA159018367Brugada syndromeDiseaseDataAnnotation, Literature, VariantAnnotation, VipGeneassociatedPD23788249, 31484910
PA165819248SCN5A Haplotype BHaplotypeVipGeneassociated16415376
PA166156333rs1805124VariantVipGeneassociated14500339, 15851227, 11997281
PA166156414rs6791924VariantVipGeneassociated15851227, 11997281
PA166186035pilsicainideChemicalVariantAnnotationassociatedPD31484910
PA212KCNH2GeneDataAnnotationassociated
PA223KCNQ1GeneDataAnnotationassociated
PA443459Atrial FibrillationDiseaseVariantAnnotationassociatedPD31484910
PA444366Heart BlockDiseaseVipGeneassociated
PA444807Long QT SyndromeDiseaseVipGeneassociated
PA445659Sick Sinus SyndromeDiseaseVipGeneassociated
PA445769Sudden Infant DeathDiseaseVipGeneassociated
PA446028Ventricular FibrillationDiseaseVariantAnnotation, VipGeneassociatedPD31484910
PA447184Romano-Ward SyndromeDiseaseDataAnnotationassociated
PA448383amiodaroneChemicalVipGeneassociated
PA449072cocaineChemicalVipGeneassociated
PA449373disopyramideChemicalVipGeneassociated
PA449646flecainideChemicalVipGeneassociated
PA450226lidocaineChemicalVipGeneassociated
PA450243lithiumChemicalVipGeneassociated
PA450488mexiletineChemicalVipGeneassociated
PA451108procainamideChemicalVipGeneassociated
PA451131propafenoneChemicalVipGeneassociated
PA451209quinidineChemicalVipGeneassociated

References

Pubmed IDYearTitleCitations
381230042024SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.2
382306792024Overexpression of SCN5A overcomes ABC transporter-mediated multidrug resistance in acute myeloid leukemia through promoting apoptosis.0
383095032024NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination.0
387585052024Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast.0
381230042024SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.2
382306792024Overexpression of SCN5A overcomes ABC transporter-mediated multidrug resistance in acute myeloid leukemia through promoting apoptosis.0
383095032024NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination.0
387585052024Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast.0
353940102023Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.11
365166102023Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.0
367317852023Functional characterization and identification of a therapeutic for a novel SCN5A-F1760C variant causing type 3 long QT syndrome refractory to all guideline-directed therapies.4
367459702023Identification of a novel missense SCN5A mutation in a Chinese Han family with Brugada syndrome.0
367820602023MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention.4
369279302023Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters.0
372263982023Inhibition of Wnt/β-catenin signaling upregulates Na(v) 1.5 channels in Brugada syndrome iPSC-derived cardiomyocytes.2

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-(sodium-voltage-gated-channel-alpha-subunit-5)