Sodium Voltage-Gated Channel, Alpha Subunit 9

Alternative Names

  • SCN9A
  • Sodium Channel, Voltage-Gated, Type IX, Alpha Subunit
  • NAV1.7
  • Neuroendocrine Sodium Channel
  • NENA
  • Peripheral Sodium Channel
  • PN1
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OMIM Number

603415

NCBI Gene ID

6335

Uniprot ID

Q15858

Length

180,817 bases

No. of Exons

30

No. of isoforms

4

Protein Name

Sodium channel protein type 9 subunit alpha

Molecular Mass

226372 Da

Amino Acid Count

1988

Genomic Location

chr2:166,195,185-166,376,001

Gene Map Locus
2q24.3

Description

This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_002977.3:c.4282G>ALebanonchr2:166226650Benign,Likely BenignGeneralized Epilepsy with Febrile Seizures Plus, Type 7NG_012798.1:g.154338G>A; NM_002977.3:c.4282G>A; NP_002968.1:p.Val1428Phe149346064287829
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