Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     prothrombin deficiency More than 50 mutations in the F2 gene have been found to cause prothrombin deficiency. Most of these mutations change one protein building block (amino acid) in prothrombin. Some mutations drastically reduce the activity of prothrombin and can lead to severe bleeding episodes. Other mutations allow for a moderate amount of activity of prothrombin, typically causing mild bleeding episodes. None of the mutations identified eliminate prothrombin function. Researchers believe that people cannot live with a complete absence of prothrombin. prothrombin thrombophilia The mutation that causes most cases of prothrombin thrombophilia changes one DNA building block (nucleotide) in the F2 gene. Specifically, it replaces the nucleotide guanine with the nucleotide adenine at position 20210 (written G20210A or 20210G>A). This mutation, which occurs in a region of the gene called the 3' untranslated region, causes the gene to be overactive and leads to the production of too much prothrombin. An abundance of prothrombin leads to more thrombin, which promotes the formation of blood clots.

     The F2 gene provides instructions for making a protein called prothrombin (also called coagulation factor II). Coagulation factors are a group of related proteins that are essential for normal blood clotting (hemostasis). After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. Prothrombin is made chiefly by cells in the liver. The protein circulates in the bloodstream in an inactive form until an injury occurs that damages blood vessels. In response to injury, prothrombin is converted to its active form, thrombin. Thrombin then converts a protein called fibrinogen into fibrin, the primary protein that makes up blood clots. Thrombin is also thought to be involved in cell growth and division (proliferation), tissue repair, and the formation of new blood vessels (angiogenesis).

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• NF-kappaB
• ER-alpha
• Egr-1
• AP-1
• AhR
• c-Jun
• NF-kappaB1
• NF-1
• Brachyury

Tissue specificity:

Expressed by the liver and secreted in plasma.

Enzyme Regulation:

Inhibited by SERPINA5.

Molecular Function:

• Serine-Type Endopeptidase Activity
• Receptor Binding
• Calcium Ion Binding
• Growth Factor Activity
• Thrombospondin Receptor Activity

Biological Processes:

• Positive Regulation Of Protein Phosphorylation
• Signal Peptide Processing
• Proteolysis
• Er To Golgi Vesicle-Mediated Transport
• Acute-Phase Response
• Cell Surface Receptor Signaling Pathway
• Multicellular Organism Development
• Blood Coagulation
• Blood Coagulation, Intrinsic Pathway
• Positive Regulation Of Cell Proliferation
• Regulation Of Cell Shape
• Response To Wounding
• Regulation Of Gene Expression
• Negative Regulation Of Platelet Activation
• Positive Regulation Of Phosphatidylinositol 3-Kinase Signaling
• Peptidyl-Glutamic Acid Carboxylation
• Platelet Activation
• Regulation Of Blood Coagulation
• Positive Regulation Of Blood Coagulation
• Positive Regulation Of Cell Growth
• Positive Regulation Of Collagen Biosynthetic Process
• Fibrinolysis
• Cellular Protein Metabolic Process
• Negative Regulation Of Proteolysis
• Negative Regulation Of Astrocyte Differentiation
• Leukocyte Migration
• Positive Regulation Of Release Of Sequestered Calcium Ion Into Cytosol
• Regulation Of Cytosolic Calcium Ion Concentration
• Negative Regulation Of Fibrinolysis
• Cellular Response To Mechanical Stimulus
• Positive Regulation Of Lipid Kinase Activity
• Positive Regulation Of Protein Localization To Nucleus
• Positive Regulation Of Phospholipase C-Activating G-Protein Coupled Receptor Signaling Pathway
• Positive Regulation Of Reactive Oxygen Species Metabolic Process

Drug Bank:

• Antihemophilic Factor (Recombinant)
• Art-123
• Coagulation Factor Ix
• Dabigatran Etexilate
• Drotrecogin Alfa
• Menadione
• Bivalirudin
• Proflavine
• Suramin
• Ximelagatran
• Argatroban
• Lepirudin

*synonyms