PTGIS: Prostaglandin I2 Synthase
Key enzyme in prostacyclin biosynthesis, vascular homeostasis, and genetic disease association
Gene Information Card
| Symbol | PTGIS |
|---|---|
| Full Name | prostaglandin I2 synthase |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 5740 ncbi.nlm.nih.gov/gene/5740 |
| Ensembl ID | ENSG00000124212 |
| UniProt ID | Q16647 |
| OMIM ID | 601699 |
| HGNC ID | 9603 |
| Aliases | CYP8A1, PTGI, PGIS, CYP8 |
Description
PTGIS encodes prostaglandin I2 (prostacyclin) synthase, a member of the cytochrome P450 superfamily. This enzyme catalyzes the conversion of prostaglandin H2 to prostacyclin (PGI2), a potent vasodilator and inhibitor of platelet aggregation. PTGIS is critical for vascular homeostasis and is implicated in pulmonary hypertension, thrombosis, and cardiovascular diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary arterial hypertension | Reduced prostacyclin production due to PTGIS deficiency leads to vasoconstriction and vascular remodeling | ClinVar, OMIM |
| Essential hypertension | Genetic variants in PTGIS may alter prostacyclin levels affecting blood pressure regulation | NCBI Gene, OMIM |
| Myocardial infarction | Impaired PGI2 synthesis contributes to thrombosis and ischemic events | ClinVar, OMIM |
| Stroke | Dysregulation of prostacyclin pathway increases risk of cerebrovascular events | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Kidney | 6.7 | Low |
| Liver | 4.2 | Low |
| Skeletal muscle | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 45.2 | High expression |
| A549 (lung carcinoma) | 3.8 | Low expression |
| HEK 293 (embryonic kidney) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1114C>T (p.Arg372*) | Nonsense | <0.01% | Loss of function; associated with pulmonary hypertension |
| c.940G>A (p.Gly314Ser) | Missense | <0.01% | Reduced enzyme activity; linked to hypertension |
| c.1465C>T (p.Arg489Cys) | Missense | <0.01% | Decreased prostacyclin synthesis; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish prostacyclin synthase activity, leading to vasoconstriction and increased thrombosis risk.
Gain of Function (GOF)
Not reported for PTGIS.
Dominant Negative (DN)
Not reported for PTGIS.
View complete mutation data：
Gene Ontology (GO)
| • prostaglandin-endoperoxide synthase activity | • heme binding |
| • iron ion binding | • oxidoreductase activity |
| • prostacyclin biosynthetic process | • response to hypoxia |
| • blood coagulation |
Pathways
• Arachidonic acid metabolism
• Prostacyclin signaling pathway
• Vascular smooth muscle contraction
Protein Summary
Prostaglandin I2 synthase (UniProt Q16647) is a 500-amino acid microsomal cytochrome P450 enzyme. It converts prostaglandin H2 to prostacyclin (PGI2), a key mediator of vasodilation and platelet inhibition. The protein contains a heme-binding domain essential for catalytic activity. Mutations or reduced expression impair vascular protection and are linked to pulmonary hypertension and cardiovascular disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTGIS Knockout HEK293 Cell Line | EDJ-KQ5586 | Human | 5740 | Details Get a Quote |
| PTGIS Knockout HeLa Cell Line | EDJ-KQ54261 | Human | 5740 | Details Get a Quote |
| PTGIS Knockout A-549 Cell Line | EDJ-KQ62752 | Human | 5740 | Details Get a Quote |
| PTGIS Knockout HCT 116 Cell Line | EDJ-KQ71220 | Human | 5740 | Details Get a Quote |
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