SCN4A (sodium voltage-gated channel alpha subunit 4)

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Gene: SCN4A (sodium voltage-gated channel alpha subunit 4) Homo sapiens

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Symbol:

SCN4A

Name:

sodium voltage-gated channel alpha subunit 4

RGD ID:

732165

HGNC Page

HGNC:10591

Description:

Enables voltage-gated sodium channel activity. Involved in regulation of skeletal muscle contraction by action potential and sodium ion transmembrane transport. Located in plasma membrane. Part of voltage-gated sodium channel complex. Implicated in congenital myasthenic syndrome 16; congenital myopathy 22A; congenital myopathy 22B; hyperkalemic periodic paralysis; and paramyotonia congenita of Von Eulenburg.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CMS16; CMYO22A; CMYP22A; CTC-264K15.6; HOKPP2; HYKPP; HYPP; Na(V)1.4; NAC1A; Nav1.4; skeletal muscle sodium channel alpha subunit; skeletal muscle voltage-dependent sodium channel type IV alpha subunit; SkM1; sodium channel protein skeletal muscle subunit alpha; sodium channel protein type 4 subunit alpha; sodium channel protein type IV subunit alpha; sodium channel, voltage gated, type IV alpha subunit; sodium channel, voltage-gated, type IV, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.4

RGD Orthologs

Alliance Orthologs

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Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	63,938,554 - 63,972,918 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	63,938,554 - 63,972,918 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	62,015,914 - 62,050,278 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	59,369,646 - 59,404,010 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	59,369,645 - 59,404,010	NCBI
Celera	17	56,403,975 - 56,438,354 (-)	NCBI		Celera
Cytogenetic Map	17	q23.3	NCBI
HuRef	17	57,383,629 - 57,417,946 (-)	NCBI		HuRef
CHM1_1	17	62,079,833 - 62,114,196 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	64,809,317 - 64,843,693 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar