AlphaFold predicted structure
SCN2A · Q99250
Mean pLDDT
68.8/ 100
Low
2,005 residues
Confidence breakdown
- Very high(≥ 90)17%
- Confident(70–90)46%
- Low(50–70)12%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SCN2A
Chr 2q24.3sodium voltage-gated channel alpha subunit 2
- Aliases:
- Nav1.2, HBSCII, HBSCI
- MANE:
- ENST00000375437.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntracerebral calcification disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedWhite matter disorders and cerebral calcification - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
developmental and epileptic encephalopathy, 11
0.84seizures, benign familial infantile, 3
0.81Seizure
0.77episodic ataxia, type 9
0.76bipolar disorder
0.71epilepsy
0.70benign familial infantile epilepsy
0.67complex neurodevelopmental disorder
0.67focal epilepsy
0.66infantile spasms
0.65
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sodium channel protein type 2 subunit alpha
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 Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity)
Diseases associated with SCN2A
Curated MONDO disease pages that list SCN2A among their top associated genes.