Basic Information

Symbol
SCN10A
RNA class
mRNA
Alias
Sodium Voltage-Gated Channel Alpha Subunit 10 PN3 Peripheral Nerve Sodium Channel 3 Nav1.8 HPN3 SNS Sodium Channel, Voltage-Gated, Type X, Alpha Polypeptide Sodium Channel, Voltage-Gated, Type X, Alpha Subunit Voltage-Gated Sodium Channel Subunit Alpha Nav1.8 Sodium Channel Protein Type 10 Subunit Alpha Sodium Channel Protein Type X Subunit Alpha Sensory Neuron Sodium Channel Sodium Channel, Voltage Gated, Type X Alpha Subunit FEPS2
Location (GRCh38)
3:38696802-38816286
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis Sudden unexpected death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006514.4
Sequence length
6626.0 nt
GC content
0.4965

Transcripts

ID Sequence Length GC content
NM_001293306.2 NCBI
AUGGAAUUCCCCAUUGGAUCCCUCGAAACUAACAACUUCCGUCGCUUUA… 5871 nt 0.5071
NM_001293307.2 NCBI
AUGGAAUUCCCCAUUGGAUCCCUCGAAACUAACAACUUCCGUCGCUUUA… 5580 nt 0.5023
NM_006514.4 NCBI
UUCUUGCUUCACACACUAGCCUCUUGGCUAGAGAACAGACAUCAGAUGG… 6626 nt 0.4965
Summary

The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Forensic Context

A study in humans, rats, and mice demonstrated that four of five SCN10A variants (L388M, L867F, P1102S, V1518I) identified in sudden unexplained death cases have deleterious functional effects on the Nav1.8 channel, including loss- or gain-of-function phenotypes, while the R756W variant was functionally similar to wild-type [Gando et al. DOI:10.1016/J.Forsciint.2019.05.042].