PTGES2
Chr 9prostaglandin E synthase 2
Also known as: C9orf15, GBF-1, PGES2, mPGES-2
The encoded protein is a membrane-associated prostaglandin E synthase that catalyzes the conversion of prostaglandin H2 to prostaglandin E2, and also activates transcription through gamma-interferon-activated transcription elements. Based on the provided information, no specific diseases associated with PTGES2 mutations or inheritance patterns have been documented. The extremely low pLI score suggests this gene is highly tolerant to loss-of-function mutations in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
130 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 | 38 | 0 | 38 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 64 | 2 | 0 | 66 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 70 | 41 | 0 | 111 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PTGES2 · 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 →External Resources
Links to major genomics databases and tools