PLAUR
plasminogen activator, urokinase receptor
Summary
This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4251923 | 19:44,153,003 | C/A | 3 prime UTR variant | — |
| rs762558158 | 19:44,153,061 | C/A | — | uncertain significance |
| rs2513745879 | 19:44,153,088 | A/C | — | uncertain significance |
| rs531179636 | 19:44,153,222 | G/A | — | likely benign |
| rs138492321 | 19:44,153,248 | T/C | — | likely benign |
| rs4251946 | 19:44,156,378 | G/A | — | likely benign |
| rs4251912 | 19:44,156,387 | G/A | — | benign |
| rs759697690 | 19:44,156,410 | T/C | — | uncertain significance |
| rs1430049910 | 19:44,156,491 | G/A | — | uncertain significance |
| rs772081331 | 19:44,156,496 | T/C | — | uncertain significance |
| rs150879389 | 19:44,156,520 | A/G | — | uncertain significance |
| rs755296902 | 19:44,159,600 | C/T | — | uncertain significance |
| rs138306315 | 19:44,159,662 | T/C | — | likely benign |
| rs143053936 | 19:44,159,670 | C/T | — | likely benign |
| rs753424409 | 19:44,159,699 | G/A | — | uncertain significance |
| rs750699531 | 19:44,159,708 | G/A | — | uncertain significance |
| rs140011964 | 19:44,159,722 | C/T | — | likely benign |
| rs4251864 | 19:44,162,233 | A/G | downstream gene variant | — |
| rs2239372 | 19:44,162,954 | A/G | downstream gene variant | — |
| rs564272258 | 19:44,165,381 | C/T | — | — |
| rs572525019 | 19:44,167,503 | A/G | — | — |
| rs150182203 | 19:44,168,210 | T/C | regulatory region variant | — |
| rs2239374 | 19:44,168,281 | C/T | regulatory region variant | — |
| rs150986089 | 19:44,169,497 | C/T | — | likely benign |
| rs1967184789 | 19:44,169,509 | T/C | — | uncertain significance |
| rs184935465 | 19:44,169,510 | C/T | — | uncertain significance |
| rs144494060 | 19:44,169,517 | G/T | — | uncertain significance |
| rs399145 | 19:44,169,522 | T/C | missense variant | — |
| rs977635101 | 19:44,169,539 | C/G | — | uncertain significance |
| rs753884538 | 19:44,169,560 | G/T | — | uncertain significance |
| rs146937073 | 19:44,169,602 | T/A | — | uncertain significance |
| rs1280799709 | 19:44,169,611 | T/A | — | uncertain significance |
| rs344787 | 19:44,170,586 | A/G | — | — |
| rs4251824 | 19:44,170,593 | C/G | — | — |
| rs344786 | 19:44,171,142 | T/A | — | — |
| rs745972219 | 19:44,171,778 | G/C | — | uncertain significance |
| rs772169129 | 19:44,171,784 | A/C | — | uncertain significance |
| rs344782 | 19:44,172,890 | A/C | regulatory region variant | — |
| rs200437703 | 19:44,174,212 | C/A | — | likely benign |
| rs62639324 | 19:44,174,249 | C/T | — | likely benign |
| rs867018678 | 19:44,174,250 | G/A | — | likely benign |
| rs1425938686 | 19:44,174,257 | G/C | — | uncertain significance |
| rs4251805 | 19:44,174,441 | C/T | regulatory region variant | — |
| rs344781 | 19:44,174,788 | C/T | upstream gene variant | — |
| rs36229204 | 19:44,175,982 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.