PTGES2

Chr 9

prostaglandin E synthase 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.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
12
Pubs (1 yr)
0
P/LP submissions
P/LP missense
1.28
LOEUF
Mechanism
Clinical SummaryPTGES2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.28LOEUF
pLI 0.000
Z-score 0.68
OE 0.83 (0.551.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.90Z-score
OE missense 0.82 (0.720.93)
165 obs / 201.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.83 (0.551.28)
00.351.4
Missense OE0.82 (0.720.93)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 15 / 18.1Missense obs/exp: 165 / 201.0Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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