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:

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

Biological Processes:

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

Drug Bank:

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

*synonyms