Identity
HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
CMS16,HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1
FUSION GENES
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: 6329
MIM: 603967
HGNC: 10591
Ensembl: ENSG00000007314
Variants:
dbSNP: 6329
ClinVar: 6329
TCGA: ENSG00000007314
COSMIC: SCN4A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000007314 | ENST00000435607 | P35499 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA444863 | Malignant Hyperthermia | Disease | MultilinkAnnotation | associated | 9508059 | ||
| PA445030 | Myotonia | Disease | ClinicalAnnotation | associated | PD | 30611854 | |
| PA447050 | Hypokalemic Periodic Paralysis | Disease | MultilinkAnnotation | associated | 9508059 | ||
| PA447130 | Myotonic Disorders | Disease | ClinicalAnnotation | associated | PD | 30611854 | |
| PA449646 | flecainide | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 30611854 | |
| PA450488 | mexiletine | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 30611854 | |
| PA451131 | propafenone | Chemical | VariantAnnotation | not associated | PD | 30611854 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38427496 | 2024 | A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. | 0 |
| 38544349 | 2024 | Idiopathic generalized epilepsy in a family with SCN4A-related myotonia. | 1 |
| 38565511 | 2024 | [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. | 0 |
| 38427496 | 2024 | A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia. | 0 |
| 38544349 | 2024 | Idiopathic generalized epilepsy in a family with SCN4A-related myotonia. | 1 |
| 38565511 | 2024 | [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. | 0 |
| 36628799 | 2023 | Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4. | 1 |
| 36720299 | 2023 | Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. | 1 |
| 37899345 | 2023 | [Two cases of potassium-aggravated myotonia induced by SCN4A gene variation]. | 0 |
| 36628799 | 2023 | Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4. | 1 |
| 36720299 | 2023 | Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study. | 1 |
| 37899345 | 2023 | [Two cases of potassium-aggravated myotonia induced by SCN4A gene variation]. | 0 |
| 34608571 | 2022 | Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes. | 7 |
| 34996390 | 2022 | Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report. | 0 |
| 35866763 | 2022 | Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people. | 1 |
Citation
Dessen P
SCN4A (sodium voltage-gated channel alpha subunit 4)
Atlas Genet Cytogenet Oncol Haematol. 2014-05-01
Online version: http://atlasgeneticsoncology.org/gene/54922/scn4a-(sodium-voltage-gated-channel-alpha-subunit-4)
