INSYN2A
Chr 10inhibitory synaptic factor 2A
Also known as: C10orf141, FAM196A, INSYN2
The protein functions as a scaffold component at inhibitory synapses, which dampen neuronal activity through postsynaptic hyperpolarization and are essential for precise neural signaling in the central nervous system. Mutations in this gene cause neurodevelopmental disorders with epilepsy, and inheritance follows an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to cause significant clinical effects.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
190 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 73 | 0 | 73 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 94 | 13 | 0 | 107 |
Likely Benign | 0 | 7 | 0 | 0 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 101 | 87 | 0 | 188 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
INSYN2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools