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

Length

180,817 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001365536.1:c.2720G>A	Saudi Arabia	NC_000002.12:g.166277137C>T	Likely Pathogenic, Pathogenic	Likely Pathogenic	Indifference to Pain, Congenital, Autosomal Recessive	NG_012798.1:g.103851G>A; NM_001365536.1:c.2720G>A; NP_001352465.1:p.Arg907Gln	1024152367	938920
NM_002977.3:c.4282G>A	Lebanon	chr2:166226650	Benign, Likely Benign	Likely Pathogenic	Generalized Epilepsy with Febrile Seizures Plus, Type 7	NG_012798.1:g.154338G>A; NM_002977.3:c.4282G>A; NP_002968.1:p.Val1428Phe	149346064	287829

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External Links

https://medlineplus.gov/genetics/gene/scn9a/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCN9A https://www.ncbi.nlm.nih.gov/gene/6335

Contributors

Pratibha Nair: 18.11.2020

Edit History

Pratibha Nair: 18.11.2020

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