PTGIR: Prostaglandin I2 Receptor
GPCR for Prostacyclin in Vascular and Platelet Function
Gene Information Card
| Symbol | PTGIR |
|---|---|
| Full Name | Prostaglandin I2 Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 5739 ncbi.nlm.nih.gov/gene/5739 |
| Ensembl ID | ENSG00000160013 |
| UniProt ID | P43119 |
| OMIM ID | 601699 |
| HGNC ID | 9602 |
| Aliases | IP, PRIPR, prostacyclin receptor |
Description
PTGIR encodes the prostaglandin I2 (prostacyclin) receptor, a G protein-coupled receptor (GPCR) that binds prostacyclin (PGI2). Activation of this receptor stimulates adenylate cyclase, increasing cAMP levels, leading to vasodilation, inhibition of platelet aggregation, and anti-proliferative effects on vascular smooth muscle. It plays a critical role in cardiovascular homeostasis and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Impaired receptor signaling reduces vasodilation, contributing to elevated blood pressure. | ClinVar; PMID: 10601291 |
| Pulmonary Arterial Hypertension (PAH) | Loss-of-function variants reduce prostacyclin-mediated vasodilation in pulmonary vasculature. | OMIM #601699; PMID: 23576714 |
| Thrombosis | Defective platelet IP receptor increases thrombotic risk due to reduced anti-aggregatory cAMP signaling. | ClinVar; PMID: 11733556 |
| Myocardial Infarction | Polymorphisms in PTGIR are associated with increased risk of MI. | NCBI Gene; PMID: 15146469 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Artery | 15.1 | High |
| Platelets | 20.0 | High |
| Kidney | 6.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Overexpression model |
| A549 | 9.7 | Lung epithelial |
| HUVEC | 22.1 | Endothelial |
| THP-1 | 5.3 | Monocytic |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.185C>T (p.Pro62Leu) | Missense | 0.01% | Reduced cAMP response; associated with hypertension |
| c.341G>A (p.Arg114His) | Missense | 0.005% | Impaired ligand binding; PAH risk |
| c.679C>T (p.Arg227Cys) | Missense | 0.02% | Loss of function; thrombosis susceptibility |
Mutation functional classification
Loss of Function (LOF)
p.Arg114His and p.Arg227Cys reduce or abolish receptor activation and cAMP production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for PTGIR.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • prostacyclin receptor activity |
| • adenylate cyclase-activating G protein-coupled receptor signaling pathway | • vasodilation |
| • negative regulation of platelet aggregation | • inflammatory response |
Pathways
• Prostanoid signaling (Reactome: R-HSA-416476)
• cAMP signaling pathway (KEGG: hsa04024)
• Vascular smooth muscle contraction (KEGG: hsa04270)
Protein Summary
The PTGIR protein (UniProt P43119) is a 386-amino acid GPCR with seven transmembrane domains. It is expressed on platelets, vascular smooth muscle, and endothelial cells. Binding of prostacyclin triggers Gs-mediated cAMP production, leading to vasorelaxation and platelet inhibition. The receptor is a target for prostacyclin analogs used in PAH therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTGIR Knockout HEK293 Cell Line | EDJ-KQ5583 | Human | 5739 | Details Get a Quote |
| PTGIR Knockout HeLa Cell Line | EDJ-KQ54260 | Human | 5739 | Details Get a Quote |
| PTGIR Knockout A-549 Cell Line | EDJ-KQ62751 | Human | 5739 | Details Get a Quote |
| PTGIR Knockout HCT 116 Cell Line | EDJ-KQ71219 | Human | 5739 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
