PLAU
plasminogen activator, urokinase
Summary
This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Known Variants94 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886047204 | 10:75,670,967 | G/A | — | uncertain significance |
| rs886047205 | 10:75,670,976 | G/A | — | uncertain significance |
| rs538342269 | 10:75,670,985 | C/G | — | uncertain significance |
| rs1916341 | 10:75,671,162 | G/T | — | benign |
| rs2227579 | 10:75,671,289 | C/T | — | benign |
| rs201591610 | 10:75,671,294 | A/G | — | benign |
| rs2227555 | 10:75,671,296 | C/A | — | benign |
| rs371106595 | 10:75,671,330 | C/A | — | conflicting classifications of pathogenicity |
| rs2227580 | 10:75,671,356 | G/T | — | benign |
| rs770181188 | 10:75,671,376 | T/C | — | likely benign |
| rs367716060 | 10:75,671,658 | C/A | stop gained | — |
| rs2227581 | 10:75,671,875 | G/A | — | benign |
| rs200927138 | 10:75,671,998 | A/G | — | likely benign |
| rs764051398 | 10:75,672,030 | T/A | — | uncertain significance |
| rs142059320 | 10:75,672,049 | A/G | — | likely benign |
| rs147372618 | 10:75,672,050 | A/G | — | likely benign |
| rs55744193 | 10:75,672,059 | G/A | — | likely benign |
| rs1450169805 | 10:75,672,077 | A/T | — | uncertain significance |
| rs2227558 | 10:75,672,378 | G/T | — | benign |
| rs2227560 | 10:75,672,475 | A/G | — | benign |
| rs183208966 | 10:75,672,682 | A/G | — | uncertain significance |
| rs201299522 | 10:75,672,724 | G/A | — | conflicting classifications of pathogenicity |
| rs768435349 | 10:75,672,748 | T/C | — | uncertain significance |
| rs886047206 | 10:75,672,804 | G/C | — | uncertain significance |
| rs186447765 | 10:75,672,862 | G/C | — | uncertain significance |
| rs2227562 | 10:75,672,961 | G/A | intron variant | benign |
| rs371297216 | 10:75,673,062 | G/A | — | likely benign |
| rs2227564 | 10:75,673,101 | T/G | missense variant | benign |
| rs770199271 | 10:75,673,102 | G/A | — | likely benign |
| rs117135013 | 10:75,673,124 | C/T | — | likely benign |
| rs374267816 | 10:75,673,132 | C/T | — | likely benign |
| rs756402191 | 10:75,673,363 | G/A | — | uncertain significance |
| rs771200321 | 10:75,673,375 | T/C | — | uncertain significance |
| rs528323261 | 10:75,673,384 | A/G | — | uncertain significance |
| rs528761202 | 10:75,673,395 | A/G | — | conflicting classifications of pathogenicity |
| rs1001108568 | 10:75,673,407 | C/T | — | uncertain significance |
| rs145865648 | 10:75,673,417 | C/A | — | uncertain significance |
| rs766391157 | 10:75,673,423 | T/C | — | uncertain significance |
| rs145070893 | 10:75,673,437 | C/T | — | uncertain significance |
| rs549461157 | 10:75,673,438 | G/T | — | benign |
| rs2227565 | 10:75,673,596 | C/T | — | benign |
| rs2227566 | 10:75,673,731 | T/C | — | benign |
| rs2227567 | 10:75,673,748 | A/C | — | benign |
| rs150389556 | 10:75,673,763 | A/G | — | benign |
| rs770663585 | 10:75,673,778 | C/T | — | uncertain significance |
| rs2549161040 | 10:75,673,781 | T/C | — | uncertain significance |
| rs1249124159 | 10:75,673,792 | C/A | — | uncertain significance |
| rs147117027 | 10:75,673,801 | G/A | — | likely benign |
| rs2549161072 | 10:75,673,802 | C/A | — | uncertain significance |
| rs886047207 | 10:75,673,807 | G/C | — | uncertain significance |
| rs1028197552 | 10:75,673,811 | A/T | — | uncertain significance |
| rs2227568 | 10:75,673,879 | C/T | — | benign |
| rs376665535 | 10:75,674,521 | T/C | — | benign |
| rs34930250 | 10:75,674,549 | G/A | — | uncertain significance |
| rs774240822 | 10:75,674,565 | G/T | — | uncertain significance |
| rs546931331 | 10:75,674,582 | G/A | — | benign |
| rs149650503 | 10:75,674,606 | C/T | — | uncertain significance |
| rs2227571 | 10:75,674,740 | T/C | — | benign |
| rs375950656 | 10:75,675,010 | C/T | — | benign |
| rs2549162531 | 10:75,675,021 | A/G | — | uncertain significance |
| rs376138058 | 10:75,675,045 | T/C | — | uncertain significance |
| rs751968486 | 10:75,675,079 | G/C | — | uncertain significance |
| rs72816325 | 10:75,675,086 | T/C | — | likely benign |
| rs558920700 | 10:75,675,091 | C/T | — | benign |
| rs148333167 | 10:75,675,130 | C/T | — | benign |
| rs150522269 | 10:75,676,186 | C/T | — | uncertain significance |
| rs3805118 | 10:75,676,220 | G/T | — | likely benign |
| rs758880290 | 10:75,676,248 | C/T | — | likely benign |
| rs200165551 | 10:75,676,249 | G/A | — | benign |
| rs764252595 | 10:75,676,256 | C/T | — | uncertain significance |
| rs376883758 | 10:75,676,261 | G/C | — | uncertain significance |
| rs148650588 | 10:75,676,286 | G/A | — | likely benign |
| rs886047208 | 10:75,676,326 | G/A | — | uncertain significance |
| rs560674195 | 10:75,676,375 | T/A | — | benign |
| rs142117323 | 10:75,676,383 | A/C | — | benign |
| rs4065 | 10:75,676,464 | C/T | 3 prime UTR variant | benign |
| rs886047209 | 10:75,676,499 | G/T | — | uncertain significance |
| rs565576288 | 10:75,676,589 | T/C | — | benign |
| rs1026194457 | 10:75,676,632 | T/C | — | uncertain significance |
| rs185909762 | 10:75,676,658 | G/A | — | benign |
| rs140559980 | 10:75,676,678 | C/T | — | benign |
| rs190769030 | 10:75,676,721 | C/T | — | benign |
| rs145634997 | 10:75,676,767 | T/A | — | benign |
| rs184153523 | 10:75,676,797 | G/A | — | uncertain significance |
| rs117134857 | 10:75,676,843 | G/T | — | benign |
| rs185856064 | 10:75,676,861 | G/A | — | uncertain significance |
| rs886047210 | 10:75,676,954 | C/T | — | uncertain significance |
| rs886047211 | 10:75,677,011 | C/T | — | uncertain significance |
| rs545559536 | 10:75,677,076 | C/T | — | uncertain significance |
| rs886047212 | 10:75,677,203 | T/A | — | uncertain significance |
| rs886047213 | 10:75,677,223 | A/G | — | uncertain significance |
| rs879420957 | 10:75,677,240 | G/A | — | uncertain significance |
| rs868098697 | 10:75,677,244 | T/C | — | uncertain significance |
| rs886047214 | 10:75,677,258 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.