AlphaFold predicted structure
SCN11A · Q9UI33
Mean pLDDT
69.3/ 100
Low
1,791 residues
Confidence breakdown
- Very high(≥ 90)10%
- Confident(70–90)53%
- Low(50–70)16%
- Very low(< 50)21%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SCN11A
Chr 3p22.2sodium voltage-gated channel alpha subunit 11
- Aliases:
- Nav1.9, NaN, SNS-2
- MANE:
- ENST00000302328.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFamilial dysautonomia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedGastrointestinal neuromuscular disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPain syndromes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
+1 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
familial episodic pain syndrome with predominantly lower limb involvement
0.80hereditary sensory and autonomic neuropathy type 7
0.78familial episodic pain syndrome
0.68major depressive disorder
0.62epilepsy
0.61Pain
0.61bipolar disorder
0.61Seizure
0.60Lennox-Gastaut syndrome
0.60Pruritus
0.59
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sodium channel protein type 11 subunit alpha
Sodium channel mediating 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 (PubMed:10580103, PubMed:12384689, PubMed:24036948, PubMed:24776970, PubMed:25791876, PubMed:26645915). Involved in membrane depolarization during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system (PubMed:24036948, PubMed:24776970, PubMed:25791876, PubMed:26645915). Also involved in rapid BDNF-evoked neuronal depolarization (PubMed:12384689)
Diseases associated with SCN11A
Curated MONDO disease pages that list SCN11A among their top associated genes.