Prothrombin (F2) Protein

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: 11p11

Cellular Component: endoplasmic reticulum lumen; extracellular region; extracellular space; Golgi lumen; plasma membrane

Molecular Function: growth factor activity; protein binding; receptor binding; serine-type endopeptidase activity

Biological Process: blood coagulation; blood coagulation, intrinsic pathway; cell surface receptor linked signal transduction; cellular protein metabolic process; cytosolic calcium ion homeostasis; ER to Golgi vesicle-mediated transport; fibrinolysis; leukocyte migration; multicellular organismal development; negative regulation of astrocyte differentiation; negative regulation of fibrinolysis; negative regulation of proteolysis; peptidyl-glutamic acid carboxylation; platelet activation; positive regulation of blood coagulation; positive regulation of collagen biosynthetic process; positive regulation of protein amino acid phosphorylation; positive regulation of release of sequestered calcium ion into cytosol; proteolysis; regulation of blood coagulation; response to wounding; signal peptide processing

Disease: Pregnancy Loss, Recurrent, Susceptibility To, 2; Prothrombin Deficiency, Congenital; Stroke, Ischemic; Thrombophilia Due To Thrombin Defect