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SCN3A

Chr 2q24.3

sodium voltage-gated channel alpha subunit 3

Aliases:
Nav1.3
MANE:
ENST00000283254.12

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Malformations of cortical development

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • familial focal epilepsy with variable foci

    0.77
  • developmental and epileptic encephalopathy, 62

    0.76
  • epilepsy

    0.75
  • focal epilepsy

    0.73
  • Seizure

    0.72
  • Pain

    0.61
  • bipolar disorder

    0.60
  • major depressive disorder

    0.60
  • Pruritus

    0.59
  • migraine disorder

    0.59

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

Protein function (UniProt)

Sodium channel protein type 3 subunit alpha

Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:24157691, PubMed:28235671, PubMed:29466837, PubMed:35277491). In some secretory cell types, it also participates in cell excitability through membrane depolarization and regulates cells responsiveness to stimuli triggering secretion. For instance, it controls the release of serotonin/5-hydroxytryptamine by enterochromaffin cells and is required for both glucagon- and glucose-induced insulin secretion in pancreatic endocrine cells (By similarity)

Curated MONDO disease pages that list SCN3A 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.