PTGIS
prostaglandin I2 synthase
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs5602 | 20:48,121,978 | A/G | 3 prime UTR variant | — |
| rs575484956 | 20:48,124,471 | G/A | — | uncertain significance |
| rs201583708 | 20:48,124,487 | G/T | — | uncertain significance |
| rs199725387 | 20:48,124,555 | C/T | — | uncertain significance |
| rs2516935459 | 20:48,124,575 | A/C | — | uncertain significance |
| rs369569836 | 20:48,124,578 | T/G | — | uncertain significance |
| rs145551841 | 20:48,124,582 | C/T | — | likely benign |
| rs777270308 | 20:48,124,594 | A/G | — | uncertain significance |
| rs13306026 | 20:48,127,563 | A/G | — | pathogenic |
| rs56195291 | 20:48,129,688 | G/C | missense variant | — |
| rs5629 | 20:48,129,706 | G/T | synonymous variant | benign |
| rs769652202 | 20:48,129,709 | C/T | — | uncertain significance |
| rs2516939458 | 20:48,129,720 | G/A | — | uncertain significance |
| rs1283952483 | 20:48,129,750 | G/T | — | uncertain significance |
| rs199876310 | 20:48,129,793 | C/T | — | uncertain significance |
| rs745642215 | 20:48,130,860 | G/A | — | uncertain significance |
| rs368611639 | 20:48,130,874 | G/A | — | uncertain significance |
| rs140218468 | 20:48,130,926 | T/C | — | uncertain significance |
| rs774754882 | 20:48,130,928 | T/C | — | uncertain significance |
| rs61734270 | 20:48,140,626 | C/T | missense variant | pathogenic |
| rs150671072 | 20:48,140,627 | G/A | — | uncertain significance |
| rs2516946123 | 20:48,140,678 | T/A | — | uncertain significance |
| rs5628 | 20:48,140,682 | C/T | synonymous variant | benign |
| rs1050638567 | 20:48,140,685 | C/A | — | uncertain significance |
| rs145783271 | 20:48,140,696 | G/A | — | likely benign |
| rs141132754 | 20:48,140,725 | G/A | — | uncertain significance |
| rs5627 | 20:48,140,727 | T/C | — | benign |
| rs151196959 | 20:48,140,731 | A/T | — | uncertain significance |
| rs369038695 | 20:48,140,743 | C/A | — | uncertain significance |
| rs5626 | 20:48,140,744 | G/A | — | benign |
| rs571969417 | 20:48,140,749 | T/C | — | uncertain significance |
| rs150320603 | 20:48,140,765 | G/C | — | uncertain significance |
| rs6067116 | 20:48,142,134 | A/T | — | — |
| rs370989795 | 20:48,156,145 | C/T | — | uncertain significance |
| rs145802460 | 20:48,156,157 | C/T | — | uncertain significance |
| rs5625 | 20:48,156,189 | G/A | — | benign |
| rs767066696 | 20:48,156,199 | G/A | — | uncertain significance |
| rs2516955696 | 20:48,156,201 | C/A | — | uncertain significance |
| rs754311420 | 20:48,156,217 | C/T | — | uncertain significance |
| rs1277631189 | 20:48,156,220 | G/A | — | uncertain significance |
| rs1601196920 | 20:48,160,885 | G/A | — | uncertain significance |
| rs375122641 | 20:48,160,908 | G/A | — | uncertain significance |
| rs2516958397 | 20:48,160,924 | C/G | — | uncertain significance |
| rs770157395 | 20:48,160,941 | T/C | — | uncertain significance |
| rs771458163 | 20:48,160,983 | G/A | — | uncertain significance |
| rs548897351 | 20:48,162,599 | G/A | — | — |
| rs5622 | 20:48,164,401 | A/T | missense variant | — |
| rs2122887144 | 20:48,164,411 | T/C | — | uncertain significance |
| rs761033223 | 20:48,164,442 | C/T | — | uncertain significance |
| rs199740067 | 20:48,164,472 | C/T | — | uncertain significance |
| rs748855737 | 20:48,164,487 | G/T | — | uncertain significance |
| rs777329256 | 20:48,164,501 | G/A | — | uncertain significance |
| rs370701076 | 20:48,164,529 | C/T | — | likely benign |
| rs368280524 | 20:48,164,540 | C/T | — | uncertain significance |
| rs201673445 | 20:48,166,617 | C/T | — | uncertain significance |
| rs1357627559 | 20:48,166,630 | C/T | — | uncertain significance |
| rs761253785 | 20:48,166,673 | G/T | — | uncertain significance |
| rs1057495908 | 20:48,184,644 | C/T | — | uncertain significance |
| rs146531327 | 20:49,511,047 | C/T | missense variant | — |
| rs13306027 | 20:49,514,311 | C/A | stop gained | — |
| rs1173082660 | 20:49,550,151 | G/A | missense variant | — |
| rs773006734 | 20:49,568,117 | C/CGCGGGGCTG | 5 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.