SCN4A sodium voltage-gated channel alpha subunit 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCN4Aprovided by HGNC
Official Full Name: sodium voltage-gated channel alpha subunit 4provided by HGNC
Primary source: HGNC:HGNC:10591
See related: Ensembl:ENSG00000007314 MIM:603967; AllianceGenome:HGNC:10591
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HYPP; SkM1; CMS16; HYKPP; NAC1A; HOKPP2; Nav1.4; CMYO22A; CMYP22A; Na(V)1.4
Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 9.2), thyroid (RPKM 1.5) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q23.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (63938554..63972918, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (64809317..64843693, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (62015914..62050278, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
Title: Idiopathic generalized epilepsy in a family with SCN4A-related myotonia.
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Title: A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].
Title: [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene].
[Two cases of potassium-aggravated myotonia induced by SCN4A gene variation].
Title: [Two cases of potassium-aggravated myotonia induced by SCN4A gene variation].
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.
Title: Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.
Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Title: Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Title: Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.
Title: Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Title: Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Differences in local anaesthetic and antiepileptic binding in the inactivated state of human sodium channel Nav1.4.
Title: Differences in local anaesthetic and antiepileptic binding in the inactivated state of human sodium channel Nav1.4.

Submit: New GeneRIF Correction See all GeneRIFs (119)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 16 MedGen: C3280112 OMIM: 614198 GeneReviews: Congenital Myasthenic Syndromes Overview	not available
Congenital myopathy 22A, classic MedGen: C5830453 OMIM: 620351 GeneReviews: Not available	not available
Congenital myopathy 22B, severe fetal MedGen: C5830501 OMIM: 620369 GeneReviews: Not available	not available
Familial hyperkalemic periodic paralysis MedGen: C0238357 OMIM: 170500 GeneReviews: Hyperkalemic Periodic Paralysis	not available
Hypokalemic periodic paralysis, type 1 MedGen: C3714580 OMIM: 170400 GeneReviews: Hypokalemic Periodic Paralysis	not available
Hypokalemic periodic paralysis, type 2 MedGen: C2750061 OMIM: 613345 GeneReviews: Hypokalemic Periodic Paralysis	not available
Paramyotonia congenita of Von Eulenburg MedGen: C0221055 OMIM: 168300 GeneReviews: Not available	not available
Potassium-aggravated myotonia MedGen: C2931826 OMIM: 608390 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Scn3a (e-PCR), detects polymorphism
- UniSTS:516640

Scn4a (e-PCR), detects polymorphism
- UniSTS:516642

RH66541 (e-PCR)
- UniSTS:46381

RH77871 (e-PCR)
- UniSTS:83006

D2S2975 (e-PCR)
- UniSTS:74585

STS-M81758 (e-PCR)
- UniSTS:10376

GDB:186996 (e-PCR)
- UniSTS:155528

GDB:186997 (e-PCR)
- UniSTS:155529

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated sodium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated sodium channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle cell action potential involved in contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in regulation of skeletal muscle contraction by action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in sodium ion transport	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated sodium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated sodium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sodium channel protein type 4 subunit alpha

Names: CTC-264K15.6; skeletal muscle sodium channel alpha subunit; skeletal muscle voltage-dependent sodium channel type IV alpha subunit; sodium channel protein skeletal muscle subunit alpha; sodium channel protein type IV subunit alpha; sodium channel, voltage-gated, type IV, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011699.1 RefSeqGene

Range

5001..39365

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000334.4 → NP_000325.4 sodium channel protein type 4 subunit alpha

See identical proteins and their annotated locations for NP_000325.4

Status: REVIEWED

Source sequence(s)

AC127029, AY212253, M81758

Consensus CDS

CCDS45761.1

UniProtKB/Swiss-Prot

P35499, Q15478, Q16447, Q7Z6B1

Related

ENSP00000396320.1, ENST00000435607.3

Conserved Domains (4) summary

cd13433
Location:1296 → 1348

Na_channel_gate; Inactivation gate of the voltage-gated sodium channel alpha subunits

pfam00520
Location:1048 → 1304

Ion_trans; Ion transport protein

pfam06512
Location:816 → 1026

Na_trans_assoc; Sodium ion transport-associated

pfam16905
Location:1620 → 1675

GPHH; Voltage-dependent L-type calcium channel, IQ-associated