GeneID: 175


Common Name: F2 Type: Gene
Chromosome: 11 (NC_000011.10) Locus: NG_008953.1 (F2)
HUGO Symbol: F2 Full Name: coagulation factor II, thrombin
Exons: 14 Introns: 13

The F2 gene encodes coagulation factor II (also called prothrombin), an essential component in the early stages of the blood coagulation cascade. It is synthesized in the liver as an inactive precursor. It is proteolytically cleaved to form the active enzyme thrombin (serine protease) by the prothrombinase complex, which consists of factor Xa, factor Va and Ca2+ assembled on an anionic phospholipid membrane. Complete activation of thrombin requires cleavage at two sites, Arg320 and Arg271. Thrombin plays an important role in haemostasis and thrombosis; it converts fibrinogen to fibrin for blood clot formation, stimulates platelet aggregation, and activates coagulation factors V, VIII, and XIII. Furthermore, thrombin interacts with thrombomodulin to activate protein C (natural anticoagulant mechanism). The activated protein C inactivates coagulation cofactors, factors Va and VIIIa, dampening thrombin formation and in turn inhibiting acute inflammation triggered by coagulation. Mutations in F2 lead to various forms of thrombosis and dysprothrombinemia. Although evidence is conflicting, studies conducted among Brazilian sickle cell disease (SCD) patients revealed a non-significant association between F2 gene variants and vascular complications (e.g., thrombosis, stroke, and avascular necrosis) of SCD.

Synonyms: prepro-coagulation factor II , PT , THPH1 , RPRGL2


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Publications / Origin

  1. Glenn KC, Frost GH, Bergmann JS, Carney DH, Synthetic peptides bind to high-affinity thrombin receptors and modulate thrombin mitogenesis., Pept. Res. , 1(2), 65-73, 1988 PubMed
  2. Andrade FL, Annichino-Bizzacchi JM, Saad ST, Costa FF, Arruda VR, Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil., Am. J. Hematol., 59(1), 46-50, 1998 PubMed
  3. Levi M, Keller TT, van Gorp E, ten Cate H, Infection and inflammation and the coagulation system., Cardiovasc. Res., 60(1), 26-39, 2003 PubMed
  4. Hatzlhofer BL, Bezerra MA, Santos MN, Albuquerque DM, Freitas EM, Costa FF, Araújo AS, Muniz MT, MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease., Genet Test Mol Biomarkers, 16(9), 1038-43, 2012 PubMed
  5. Adams TE, Huntington JA, Structural transitions during prothrombin activation: On the importance of fragment 2., Biochimie, 122(0), 235-42, 2016 PubMed
Created on 2016-09-29 18:08:41, Last reviewed on (Show full history)

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