The SCN4A gene homepage

General information
Gene symbol SCN4A
Gene name sodium channel, voltage-gated, type IV, alpha subunit
Chromosome 17
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_011699.1
Transcript reference NM_000334.4
Exon/intron information NM_000334.4 exon/intron table
Associated with diseases CMS16, HOKPP, HOKPP2, HYPP, PMC, myotonia congenita, atypical, acetazolamide-responsive
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1072
Unique public DNA variants reported 271
Individuals with public variants 518
Hidden variants 23
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. We gratefully acknowledge the work of Ieke Ginjaar (LUMC, Leiden) and Vincent Janmaat (LUMC, Leiden) submitting published variants to this gene variant database.
Date created September 06, 2007
Date last updated November 27, 2023
Version SCN4A:231127

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000334.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 10591
Entrez Gene 6329
PubMed articles SCN4A
OMIM - Gene 603967
OMIM - Diseases CMS16 (myasthenic syndrome, congenital, type 16, acetazolamide-responsive (CMS-16))
HOKPP2 (paralysis, hypokalemic, periodic, type 2 (HOKPP-2))
HYPP (paralysis, periodic, hyperkalemic (HYPP))
PMC (paramyotonia congenita of von Eulenburg (PMC))
myotonia congenita, atypical, acetazolamide-responsive
GeneCards SCN4A
GeneTests SCN4A
Orphanet SCN4A

Active transcripts




NCBI ID     

NCBI Protein ID     

00018521 17 sodium channel, voltage-gated, type IV, alpha subunit NM_000334.4 NP_000325.4 1072

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2007-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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