Na_v1.4

SCN4A
Identifiers
Aliases	SCN4A, CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1, sodium voltage-gated channel alpha subunit 4
External IDs	OMIM: 603967; MGI: 98250; HomoloGene: 283; GeneCards: SCN4A; OMA:SCN4A - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	63,972,918 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	106,244,114 bp
RNA expression pattern
	Top expressed in
	muscle of thigh; ; gastrocnemius muscle; ; Skeletal muscle tissue of rectus abdominis; ; vastus lateralis muscle; ; glutes; ; thoracic diaphragm; ; triceps brachii muscle; ; Skeletal muscle tissue of biceps brachii; ; deltoid muscle; ; tibialis anterior muscle;
	Top expressed in
	muscle of thigh; ; triceps brachii muscle; ; skeletal muscle tissue; ; medial head of gastrocnemius muscle; ; temporal muscle; ; sternocleidomastoid muscle; ; lip; ; quadriceps femoris muscle; ; knee joint; ; digastric muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ion channel activity; sodium channel activity; voltage-gated ion channel activity; voltage-gated sodium channel activity;
Cellular component	voltage-gated sodium channel complex; integral component of membrane; integral component of plasma membrane; membrane; plasma membrane; axon;
Biological process	regulation of ion transmembrane transport; ion transmembrane transport; muscle contraction; membrane depolarization during action potential; ion transport; neuronal action potential; transmembrane transport; sodium ion transport; sodium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	6329
	110880
	ENSG00000007314
	ENSMUSG00000001027
	P35499
	Q9ER60
	NM_000334
	NM_133199
	NP_000325
	NP_573462; NP_001390570
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium channel protein type 4 subunit alpha is a protein that in humans is encoded by the SCN4A gene.^[5]^[6]^[7]^[8]

The Na_v1.4 voltage-gated sodium channel is encoded by the SCN4A gene. Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000007314 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000001027 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M (Oct 1991). "Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus". Am J Hum Genet. 49 (4): 851–4. PMC 1683172. PMID 1654742.
^ Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF (Jan 1992). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis". Cell. 67 (5): 1021–7. doi:10.1016/0092-8674(91)90374-8. PMID 1659948. S2CID 12539865.
^ Catterall WA, Goldin AL, Waxman SG (Dec 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacol Rev. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. S2CID 7332624.
^ "Entrez Gene: SCN4A sodium channel, voltage-gated, type IV, alpha subunit".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000007314 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001027 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid1654742-5] Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M (Oct 1991). "Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus". Am J Hum Genet. 49 (4): 851–4. PMC 1683172. PMID 1654742.

[pmid1659948-6] Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF (Jan 1992). "Identification of a mutation in the gene causing hyperkalemic periodic paralysis". Cell. 67 (5): 1021–7. doi:10.1016/0092-8674(91)90374-8. PMID 1659948. S2CID 12539865.

[pmid16382098-7] Catterall WA, Goldin AL, Waxman SG (Dec 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacol Rev. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. S2CID 7332624.

[entrez-8] "Entrez Gene: SCN4A sodium channel, voltage-gated, type IV, alpha subunit".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]