AlphaFold predicted structure
SCN3A · Q9NY46

Mean pLDDT
68.3/ 100
Low
2,000 residues
Confidence breakdown
- Very high(≥ 90)16%
- Confident(70–90)45%
- Low(50–70)13%
- Very low(< 50)26%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
sodium voltage-gated channel alpha subunit 3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedfamilial focal epilepsy with variable foci
developmental and epileptic encephalopathy, 62
epilepsy
focal epilepsy
Seizure
Pain
bipolar disorder
major depressive disorder
Pruritus
migraine disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
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.
SCN3A · Q9NY46

Mean pLDDT
68.3/ 100
Low
2,000 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0