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

rsidPosition (GRCh37)AllelesClassClinVar
rs425192319:44,153,003C/A3 prime UTR variant
rs76255815819:44,153,061C/Auncertain significance
rs251374587919:44,153,088A/Cuncertain significance
rs53117963619:44,153,222G/Alikely benign
rs13849232119:44,153,248T/Clikely benign
rs425194619:44,156,378G/Alikely benign
rs425191219:44,156,387G/Abenign
rs75969769019:44,156,410T/Cuncertain significance
rs143004991019:44,156,491G/Auncertain significance
rs77208133119:44,156,496T/Cuncertain significance
rs15087938919:44,156,520A/Guncertain significance
rs75529690219:44,159,600C/Tuncertain significance
rs13830631519:44,159,662T/Clikely benign
rs14305393619:44,159,670C/Tlikely benign
rs75342440919:44,159,699G/Auncertain significance
rs75069953119:44,159,708G/Auncertain significance
rs14001196419:44,159,722C/Tlikely benign
rs425186419:44,162,233A/Gdownstream gene variant
rs223937219:44,162,954A/Gdownstream gene variant
rs56427225819:44,165,381C/T
rs57252501919:44,167,503A/G
rs15018220319:44,168,210T/Cregulatory region variant
rs223937419:44,168,281C/Tregulatory region variant
rs15098608919:44,169,497C/Tlikely benign
rs196718478919:44,169,509T/Cuncertain significance
rs18493546519:44,169,510C/Tuncertain significance
rs14449406019:44,169,517G/Tuncertain significance
rs39914519:44,169,522T/Cmissense variant
rs97763510119:44,169,539C/Guncertain significance
rs75388453819:44,169,560G/Tuncertain significance
rs14693707319:44,169,602T/Auncertain significance
rs128079970919:44,169,611T/Auncertain significance
rs34478719:44,170,586A/G
rs425182419:44,170,593C/G
rs34478619:44,171,142T/A
rs74597221919:44,171,778G/Cuncertain significance
rs77216912919:44,171,784A/Cuncertain significance
rs34478219:44,172,890A/Cregulatory region variant
rs20043770319:44,174,212C/Alikely benign
rs6263932419:44,174,249C/Tlikely benign
rs86701867819:44,174,250G/Alikely benign
rs142593868619:44,174,257G/Cuncertain significance
rs425180519:44,174,441C/Tregulatory region variant
rs34478119:44,174,788C/Tupstream gene variant
rs3622920419:44,175,982C/Tupstream gene variant

Gene information from NCBI Gene. Variant classifications from ClinVar.