STOX2
Chr 4storkhead box 2
The protein contains a Storkhead-box winged-helix domain and is differentially expressed in decidual tissue. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly and growth restriction, typically with onset in infancy or early childhood. The gene shows high constraint against loss-of-function variants (LOEUF 0.425), suggesting intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
247 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 | 90 | 0 | 90 |
Likely Pathogenic | 0 | 0 | 9 | 0 | 9 |
VUS | 0 | 119 | 10 | 0 | 129 |
Likely Benign | 0 | 3 | 2 | 1 | 6 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 122 | 111 | 1 | 234 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STOX2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools