Sodium Voltage-Gated Channel, Alpha Subunit 2

Alternative Names

  • SCN2A
  • Sodium Channel, Voltage-Gated, Type II, Alpha Subunit
  • Sodium Channel, Brain Type II, Alpha Subunit
  • NAC2
  • Nav1.2
  • Sodium Channel, Neuronal Type II, Alpha Subunit-1
  • SCN2A1

Associated Diseases

Episodic Ataxia, Type 9
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OMIM Number

182390

NCBI Gene ID

6326

Uniprot ID

Q99250

Length

152,891 bases

No. of Exons

31

No. of isoforms

2

Protein Name

Sodium channel protein type 2 subunit alpha

Molecular Mass

227975 Da

Amino Acid Count

2005

Genomic Location

chr2:165,239,414-165,392,304

Gene Map Locus
2q24.3

Description

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001040142.2:c.304C>TSaudi ArabiaNC_000002.12:g.165297053C>TPathogenicPathogenicEpisodic Ataxia, Type 9NG_008143.1:g.62652C>T; NM_001040142.2:c.304C>T; NP_001035232.1:p.Arg102Ter38790668329885
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