PLAT
plasminogen activator, tissue type
Summary
This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1804182 | 8:42,033,519 | G/A | — | benign |
| rs776112395 | 8:42,033,567 | C/T | — | uncertain significance |
| rs141151565 | 8:42,033,571 | C/T | — | likely benign |
| rs966869491 | 8:42,033,572 | G/A | — | uncertain significance |
| rs201967222 | 8:42,033,629 | C/T | — | likely benign |
| rs1320916062 | 8:42,033,636 | C/T | — | uncertain significance |
| rs13306824 | 8:42,033,661 | C/T | — | benign |
| rs61755432 | 8:42,036,464 | C/G | — | uncertain significance |
| rs62001886 | 8:42,036,466 | A/T | — | likely benign |
| rs114534719 | 8:42,036,534 | A/G | — | likely benign |
| rs564988743 | 8:42,036,566 | G/A | — | uncertain significance |
| rs1043243956 | 8:42,037,459 | C/T | — | uncertain significance |
| rs756918378 | 8:42,037,479 | T/G | — | uncertain significance |
| rs201544156 | 8:42,037,483 | T/C | — | uncertain significance |
| rs1805152937 | 8:42,037,496 | C/G | — | uncertain significance |
| rs778193644 | 8:42,037,506 | G/T | — | uncertain significance |
| rs1587928114 | 8:42,037,536 | C/A | — | uncertain significance |
| rs540586282 | 8:42,037,541 | C/G | — | uncertain significance |
| rs753320550 | 8:42,037,554 | C/T | — | likely benign |
| rs1587928179 | 8:42,037,556 | G/A | — | likely benign |
| rs149824937 | 8:42,037,768 | T/C | — | uncertain significance |
| rs199960677 | 8:42,037,809 | T/C | — | likely benign |
| rs8178781 | 8:42,037,815 | G/C | — | benign |
| rs148523981 | 8:42,037,832 | C/G | — | uncertain significance |
| rs146538335 | 8:42,037,851 | C/T | — | likely benign |
| rs116381625 | 8:42,037,864 | C/G | — | uncertain significance |
| rs547017710 | 8:42,037,889 | G/T | — | uncertain significance |
| rs151006962 | 8:42,038,165 | G/A | — | uncertain significance |
| rs8178777 | 8:42,039,483 | C/T | — | benign |
| rs114878147 | 8:42,039,484 | G/A | — | likely benign |
| rs115902460 | 8:42,039,506 | C/T | — | uncertain significance |
| rs114720257 | 8:42,039,507 | G/A | — | benign |
| rs367827951 | 8:42,039,518 | G/A | — | uncertain significance |
| rs2486757968 | 8:42,040,266 | T/G | — | likely benign |
| rs115475531 | 8:42,040,350 | G/A | — | benign |
| rs556443869 | 8:42,042,616 | G/T | — | likely benign |
| rs41387546 | 8:42,042,645 | C/G | — | likely benign |
| rs61231575 | 8:42,042,646 | G/A | — | uncertain significance |
| rs201110341 | 8:42,042,657 | G/A | — | likely benign |
| rs374169548 | 8:42,042,680 | G/C | — | uncertain significance |
| rs8178885 | 8:42,043,637 | C/A | regulatory region variant | — |
| rs63020761 | 8:42,043,689 | T/G | — | — |
| rs774505410 | 8:42,044,950 | T/C | — | likely benign |
| rs148679956 | 8:42,044,964 | C/T | — | uncertain significance |
| rs2020921 | 8:42,044,965 | G/A | missense variant | — |
| rs778150215 | 8:42,044,992 | C/T | — | uncertain significance |
| rs561637468 | 8:42,044,993 | G/A | — | likely benign |
| rs141317668 | 8:42,045,020 | G/A | — | likely benign |
| rs199724423 | 8:42,045,030 | G/A | — | uncertain significance |
| rs8178884 | 8:42,045,041 | C/T | — | likely benign |
| rs887965470 | 8:42,045,070 | C/T | — | uncertain significance |
| rs778893632 | 8:42,045,469 | C/T | — | uncertain significance |
| rs757271387 | 8:42,046,575 | C/T | — | uncertain significance |
| rs8178733 | 8:42,048,904 | G/T | — | likely benign |
| rs141964626 | 8:42,050,647 | G/A | — | likely benign |
| rs879293 | 8:42,055,146 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.