GSPT2
Chr XG1 to S phase transition 2
Also known as: ERF3B, GST2
The protein is a GTPase that forms a complex with eukaryotic release factor 1 to mediate translation termination at stop codons and plays a role in nonsense-mediated mRNA decay. Mutations cause autosomal dominant intellectual disability with developmental delay and behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI = 0.98, LOEUF = 0.24), indicating that haploinsufficiency is likely not tolerated in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GSPT2 · 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