PTGFR
Chr 1prostaglandin F receptor
Also known as: FP
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PTGFR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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