PTGFR

Chr 1

prostaglandin F receptor

Also known as: FP

NCBI Gene: 5737 ENSG00000122420 UniProt: P43088 OMIM: 600563

The PTGFR protein is a G-protein coupled receptor that binds prostaglandin F2-alpha and activates phosphatidylinositol-calcium signaling pathways, with roles in smooth muscle contraction and modulating intraocular pressure. Mutations cause autosomal recessive primary congenital glaucoma, typically presenting in infancy with elevated intraocular pressure, corneal clouding, and progressive vision loss. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.754), consistent with its autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.75

LOEUF

Multiple*

Mechanism· predicted