SCN4A (sodium voltage-gated channel alpha subunit 4)

2014-05-01 Affiliation

Identity

HGNC

SCN4A

LOCATION

17q23.3

LOCUSID

6329

ALIAS

CMS16,HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1

FUSION GENES

Show Gene Fusions

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)

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
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
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/favicon/favicon/case-report-explorer/