SCN4A (sodium voltage-gated channel alpha subunit 4)

2014-05-01  

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

Other Information

Locus ID:

NCBI: 6329
MIM: 603967
HGNC: 10591
Ensembl: ENSG00000007314

Variants:

dbSNP: 6329
ClinVar: 6329
TCGA: ENSG00000007314
COSMIC: SCN4A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007314ENST00000435607P35499

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
PA444863Malignant HyperthermiaDiseaseMultilinkAnnotationassociated9508059
PA445030MyotoniaDiseaseClinicalAnnotationassociatedPD30611854
PA447050Hypokalemic Periodic ParalysisDiseaseMultilinkAnnotationassociated9508059
PA447130Myotonic DisordersDiseaseClinicalAnnotationassociatedPD30611854
PA449646flecainideChemicalClinicalAnnotation, VariantAnnotationambiguousPD30611854
PA450488mexiletineChemicalClinicalAnnotation, VariantAnnotationambiguousPD30611854
PA451131propafenoneChemicalVariantAnnotationnot associatedPD30611854

References

Pubmed IDYearTitleCitations
384274962024A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.0
385443492024Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.1
385655112024[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].0
384274962024A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.0
385443492024Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.1
385655112024[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].0
366287992023Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.1
367202992023Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.1
378993452023[Two cases of potassium-aggravated myotonia induced by SCN4A gene variation].0
366287992023Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.1
367202992023Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.1
378993452023[Two cases of potassium-aggravated myotonia induced by SCN4A gene variation].0
346085712022Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.7
349963902022Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.0
358667632022Sequence 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/js/lib/deep-insight-explorer/css/template-nav.css