PTGS2

Chr 1

prostaglandin-endoperoxide synthase 2

Also known as: COX-2, COX2, GRIPGHS, PGG/HS, PGHS-2, PHS-2, hCox-2

Prostaglandin-endoperoxide synthase 2 (PTGS2) is an inducible cyclooxygenase enzyme that catalyzes the conversion of arachidonic acid to prostaglandins, playing a central role in inflammation and the biosynthesis of specialized pro-resolving mediators. This gene is highly constrained (pLI 0.996, LOEUF 0.263) and has an associated GeneReviews entry, though the specific disease phenotype and inheritance pattern are not provided in the available clinical data. Additional clinical information would be needed to characterize the neurogenetic disorder associated with PTGS2 mutations.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.26
Clinical SummaryPTGS2
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
5 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.26LOEUF
pLI 0.996
Z-score 4.52
OE 0.10 (0.040.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.48Z-score
OE missense 0.62 (0.550.69)
208 obs / 335.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.10 (0.040.26)
00.351.4
Missense OE0.62 (0.550.69)
00.61.4
Synonymous OE1.12
01.21.6
LoF obs/exp: 3 / 29.5Missense obs/exp: 208 / 335.8Syn Z: -1.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PTGS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
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