PLG Chromosome 6
Plasminogen
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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
RS121918027
Conflicting classifications of pathogenicity
Dysplasminogenemia, Plasminogen deficiency, type I
Health Risk
RS139071351
Conflicting classifications of pathogenicity
PLG-related disorder, Plasminogen deficiency, type I
Health Risk
RS140537724
Conflicting classifications of pathogenicity
Plasminogen deficiency, type I, Abnormal bleeding
Health Risk
RS140970354
Conflicting classifications of pathogenicity
Health Risk
RS143034754
Conflicting classifications of pathogenicity
Angioedema, hereditary, 4
Health Risk
RS147175166
Conflicting classifications of pathogenicity
Otitis media, susceptibility to, Plasminogen deficiency
Health Risk
RS192519670
Conflicting classifications of pathogenicity
Deep venous thrombosis, PLG-related disorder, Deep venous thrombosis
Health Risk
RS199619244
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200731501
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369616302
Conflicting classifications of pathogenicity
Angioedema, hereditary, 4
Health Risk
RS371661937
Conflicting classifications of pathogenicity
Plasminogen deficiency, type I, Angioedema
Health Risk
RS4252187
Conflicting classifications of pathogenicity
Otitis media, susceptibility to, PLG-related disorder
Health Risk
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 |