prothrombin: Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Defects in F2 are the cause of factor II deficiency (FA2D). It is a very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. Genetic variations in F2 may be a cause of susceptibility to ischemic stroke (ISCHSTR); also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Defects in F2 are the cause of thrombophilia due to thrombin defect (THPH1). It is a multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. A common genetic variation in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis. Defects in F2 are associated with susceptibility to pregnancy loss, recurrent, type 2 (RPRGL2). A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. Belongs to the peptidase S1 family.
Protein type: Apoptosis; EC 3.4.21.5; Protease; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 3q24
Cellular Component: external side of plasma membrane; extracellular matrix; extracellular space
Molecular Function: calcium ion binding; heparin binding; lipopolysaccharide binding; peptidase activity; receptor binding; serine-type endopeptidase activity
Biological Process: acute-phase response; blood coagulation; cell surface receptor signaling pathway; cytolysis by host of symbiont cells; fibrinolysis; negative regulation of astrocyte differentiation; negative regulation of proteolysis; platelet activation; positive regulation of blood coagulation; positive regulation of cell growth; positive regulation of cell proliferation; positive regulation of collagen biosynthetic process; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of protein phosphorylation; positive regulation of release of sequestered calcium ion into cytosol; proteolysis; regulation of cell shape; regulation of cytosolic calcium ion concentration; regulation of gene expression; response to inactivity; response to wounding
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