SCN9A sodium voltage-gated channel alpha subunit 9

Gene ID: 6335, updated on 11-Apr-2024
Gene type: protein coding
Also known as: PN1; ETHA; NENA; SFNP; FEB3B; NE-NA; GEFSP7; HSAN2D; Nav1.7

Summary

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. [provided by RefSeq, Aug 2009]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Channelopathy-associated congenital insensitivity to pain, autosomal recessive MedGen: C1855739OMIM: 243000GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II, Congenital Insensitivity to Pain Overview	See labs
Genome-wide association scan of dental caries in the permanent dentition. GeneReviews: Not available
Neuropathy, hereditary sensory and autonomic, type 2A MedGen: C2752089OMIM: 201300GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II	See labs
Paroxysmal extreme pain disorder MedGen: C1833661OMIM: 167400GeneReviews: SCN9A Neuropathic Pain Syndromes	See labs
Primary erythromelalgia MedGen: C0014805OMIM: 133020GeneReviews: SCN9A Neuropathic Pain Syndromes	See labs

Genomic context

Location:: 2q24.3

Sequence:: Chromosome: 2; NC_000002.12 (166195185..166375987, complement)

Total number of exons:: 29

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SCN9A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SCN9A database
Variation Viewer
Related Variants

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