PLG Chromosome 6

Plasminogen
32 variants 32 Health Risk

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What This Gene Does
The plasminogen protein encoded by this gene is a serine protease that circulates in blood plasma as an inactive zymogen and is converted to the active protease, plasmin, by several plasminogen activators such as tissue plasminogen activator (tPA), urokinase plasminogen activator (uPA), kallikrein, and factor XII (Hageman factor). The conversion of plasminogen to plasmin involves the cleavage of the peptide bond between Arg-561 and Val-562. Plasmin cleavage also releases the angiostatin protein which inhibits angiogenesis. Plasmin degrades many blood plasma proteins, including fibrin-containing blood clots. As a serine protease, plasmin cleaves many products in addition to fibrin such as fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin is inactivated by proteins such as alpha-2-macroglobulin and alpha-2-antiplasmin in addition to inhibitors of the various plasminogen activators. Plasminogen also interacts with plasminogen receptors which results in the retention of plasmin on cell surfaces and in plasmin-induced cell signaling. The localization of plasminogen on cell surfaces plays a role in the degradation of extracellular matrices, cell migration, inflamation, wound healing, oncogenesis, metastasis, myogenesis, muscle regeneration, neurite outgrowth, and fibrinolysis. This protein may also play a role in acute respiratory distress syndrome (ARDS) which, in part, is caused by enhanced clot formation and the suppression of fibrinolysis. Compared to other mammals, the cluster of plasminogen-like genes to which this gene belongs has been rearranged in catarrhine primates. [provided by RefSeq, May 2020]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
6q26
Ensembl
ENSG00000122194
Associated Conditions (17)
Dysplasminogenemia
Plasminogen deficiency
type I
PLG-related disorder
Angioedema
hereditary
4
Abnormal bleeding
Thrombocytopenia
Deep venous thrombosis
Thrombus
Otitis media
susceptibility to
Inborn genetic diseases
Hereditary angioedema with normal C1Inh
Hereditary angioneurotic edema
Cystic fibrosis
Key Variants
All Variants (32)
RSID Category Clinical Significance Conditions
RS121918027 Health Risk Conflicting classifications of pathogenicity Dysplasminogenemia, Plasminogen deficiency, type I
RS139071351 Health Risk Conflicting classifications of pathogenicity PLG-related disorder, Plasminogen deficiency, type I
RS140537724 Health Risk Conflicting classifications of pathogenicity Plasminogen deficiency, type I, Abnormal bleeding
RS140970354 Health Risk Conflicting classifications of pathogenicity
RS143034754 Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary, 4
RS147175166 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to, Plasminogen deficiency
RS192519670 Health Risk Conflicting classifications of pathogenicity Deep venous thrombosis, PLG-related disorder, Deep venous thrombosis
RS199619244 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200731501 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369616302 Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary, 4
RS371661937 Health Risk Conflicting classifications of pathogenicity Plasminogen deficiency, type I, Angioedema
RS4252187 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to, PLG-related disorder
RS746890698 Health Risk Conflicting classifications of pathogenicity
RS750185991 Health Risk Conflicting classifications of pathogenicity Angioedema, hereditary, 4
RS2115181746 Health Risk Likely pathogenic Plasminogen deficiency, type I, Plasminogen deficiency
RS2484324739 Health Risk Likely pathogenic
RS2484376042 Health Risk Likely pathogenic PLG-related disorder, PLG-related disorder
RS772727378 Health Risk Likely pathogenic
RS121918028 Health Risk Pathogenic Dysplasminogenemia, Dysplasminogenemia
RS121918029 Health Risk Pathogenic Dysplasminogenemia, Dysplasminogenemia
RS121918030 Health Risk Pathogenic Plasminogen deficiency, type I, Plasminogen deficiency
RS121918031 Health Risk Pathogenic Plasminogen deficiency, type I, Plasminogen deficiency
RS121918032 Health Risk Pathogenic Plasminogen deficiency, type I, Plasminogen deficiency
RS1385652944 Health Risk Pathogenic
RS1582955358 Health Risk Pathogenic Hereditary angioedema with normal C1Inh, Angioedema, hereditary
RS1777777927 Health Risk Pathogenic Plasminogen deficiency, type I, Plasminogen deficiency
RS367707054 Health Risk Pathogenic
RS606231210 Health Risk Pathogenic Plasminogen deficiency, type I, Plasminogen deficiency
RS886042477 Health Risk Pathogenic
RS889957249 Health Risk Pathogenic Hereditary angioneurotic edema, Angioedema, hereditary
RS73015965 Health Risk Pathogenic/Likely pathogenic Plasminogen deficiency, type I, Otitis media
RS756287836 Health Risk risk factor Cystic fibrosis, Cystic fibrosis
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