Identity
HGNC
LOCATION
3p22.2
LOCUSID
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
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | 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 |
|---|---|---|---|
| 38123004 | 2024 | SCN5A-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 |
| 38230679 | 2024 | Overexpression of SCN5A overcomes ABC transporter-mediated multidrug resistance in acute myeloid leukemia through promoting apoptosis. | 0 |
| 38309503 | 2024 | NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination. | 0 |
| 38758505 | 2024 | Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast. | 0 |
| 38123004 | 2024 | SCN5A-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 |
| 38230679 | 2024 | Overexpression of SCN5A overcomes ABC transporter-mediated multidrug resistance in acute myeloid leukemia through promoting apoptosis. | 0 |
| 38309503 | 2024 | NEDD4L intramolecular interactions regulate its auto and substrate Na(V)1.5 ubiquitination. | 0 |
| 38758505 | 2024 | Knockdown of SCN5A alters metabolic-associated genes and aggravates hypertrophy in the cardiomyoblast. | 0 |
| 35394010 | 2023 | Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia. | 11 |
| 36516610 | 2023 | Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome. | 0 |
| 36731785 | 2023 | Functional 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 |
| 36745970 | 2023 | Identification of a novel missense SCN5A mutation in a Chinese Han family with Brugada syndrome. | 0 |
| 36782060 | 2023 | MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be reversed by genetic and pharmacologic intervention. | 4 |
| 36927930 | 2023 | Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters. | 0 |
| 37226398 | 2023 | Inhibition 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
