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SCN10A

Chr 3p22.2

sodium voltage-gated channel alpha subunit 10

Aliases:
Nav1.8, hPN3, SNS, PN3
MANE:
ENST00000449082.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Pain syndromes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Brugada syndrome and cardiac sodium channel disease

    Unknown
  • Paediatric pseudo-obstruction syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Paroxysmal central nervous system disorders

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Short QT syndrome

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • episodic pain syndrome, familial, 2

    0.72
  • atrial fibrillation

    0.71
  • cardiac arrhythmia

    0.68
  • sodium channelopathy-related small fiber neuropathy

    0.63
  • epilepsy

    0.61
  • Pain

    0.61
  • bipolar disorder

    0.60
  • Seizure

    0.60
  • major depressive disorder

    0.60
  • migraine disorder

    0.60

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium channel protein type 10 subunit alpha

Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms

Curated MONDO disease pages that list SCN10A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.