SCN4A
protein-coding gene in the species Homo sapiens
Facts
13 properties- Instance of
- gene
- Subclass of
- protein-coding gene[2]
- Chromosome
- human chromosome 17[13]
- Cytogenetic location
- 17q23.3[22]
- 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[23][24][25][26][27][28][29][30][31][32]
- Found in taxon
- Homo sapiens[12]
- Genetic association
- paramyotonia congenita, congenital myasthenic syndrome 16, hypokalemic periodic paralysis, hyperkalemic periodic paralysis, potassium-aggravated myotonia, acetazolamide-responsive myotonia, congenital myasthenic syndrome[14][15][16][17][18][19][20]
- HomoloGene ID
- 283[3]
- Strand orientation
- reverse strand[21]
🏷️ Also known as
en CMS16
en HOKPP2
en HYKPP
en HYPP
en NAC1A
en Nav1.4
en Na(V)1.4
en SCN4A
en SkM1
en sodium voltage-gated channel alpha subunit 4
🔖 Identifiers · 11
- Ensembl gene ID
- ENSG00000007314
- Ensembl transcript ID
- ENST00000584310, ENST00000435607, ENST00000581514
- Entrez Gene ID
- 6329
- Exact match
- identifiers.org
- Freebase ID
- /m/0h04z3
- HGNC ID
- 10591
- HGNC gene symbol
- SCN4A
- Microsoft Academic ID (discontinued)
- 181993826
- OMIM ID
- 603967
- RefSeq RNA ID
- NM_000334
- UMLS CUI
- C1419862
🔗 Connections
Expressed in 7
Genetic association 4
← Genetic association 4
Chromosome 1
Found in taxon 1
Instance of 1
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Summary
SCN4A is a gene[1].