SCN4A (sodium voltage-gated channel alpha subunit 4)

2014-05-01  

Identity

HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
CMS16,HOKPP2,HYKPP,HYPP,NAC1A,Na(V)1.4,Nav1.4,SkM1
FUSION GENES

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

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
191182772009Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.56
200388122010Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.55
301903092018Structure of the human voltage-gated sodium channel Na<sub>v</sub>1.4 in complex with β1.49
127662262003Myasthenic syndrome caused by mutation of the SCN4A sodium channel.46
180792772008State- and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine.33
267006872016Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.29
155967592004New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.28
183377302008In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.24
183377302008In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.24
192115982009Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.22

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