PTGER1

Chr 19

prostaglandin E receptor 1

Also known as: EP1

The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
P/LP submissions
P/LP missense
1.58
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.58LOEUF
pLI 0.001
Z-score 0.52
OE 0.78 (0.411.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.75Z-score
OE missense 0.84 (0.730.96)
141 obs / 168.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.78 (0.411.58)
00.351.4
Missense OE?0.84 (0.730.96)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 5 / 6.4Missense obs/exp: 141 / 168.2Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PTGER1 · 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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