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This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]
F2 (Coagulation Factor II, Thrombin) is a Protein Coding gene. Diseases associated with F2 include Prothrombin Deficiency, Congenital and Thrombophilia Due To Thrombin Defect. Among its related pathways are RET signaling and Formation of Fibrin Clot (Clotting Cascade). Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is PAMR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001530 | lipopolysaccharide binding | IDA | 20421939 |
GO:0004252 | serine-type endopeptidase activity | IEA,IDA | 1672265 |
GO:0005102 | signaling receptor binding | IPI | 8626514 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 3279057 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA,TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 9639571 |
GO:0005623 | cell | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
GO:0005796 | Golgi lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Formation of Fibrin Clot (Clotting Cascade) |
Extrinsic Prothrombin Activation Pathway
.01
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2 | Gamma carboxylation, hypusine formation and arylsulfatase activation | ||
3 | Peptide ligand-binding receptors | ||
4 | Signaling by GPCR | ||
5 | Folate Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001934 | positive regulation of protein phosphorylation | IDA | 7559487 |
GO:0006508 | proteolysis | IEA | -- |
GO:0006888 | ER to Golgi vesicle-mediated transport | TAS | -- |
GO:0006953 | acute-phase response | IEA | -- |
GO:0007166 | cell surface receptor signaling pathway | IDA | 1672265 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Argatroban | Approved, Investigational | Pharma | Target, inhibitor | Thrombin mediated fibrinogen cleavage inhibitor | 27 | |
Bivalirudin | Approved, Investigational | Pharma | Target, inhibitor | 79 | ||
Ximelagatran | Approved, Investigational, Withdrawn | Pharma | Target, inhibitor | 2 | ||
Lepirudin | Approved | Pharma | Target, inhibitor | 5 | ||
Menadione | Approved | Nutra | Target, activator, inhibitor | 327 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
5-R-Rivaroxaban | Factor Xa (FXa) inhibitor | 865479-71-6 |
Argatroban | Thrombin mediated fibrinogen cleavage inhibitor | 74863-84-6 |
BIBR 953 (Dabigatran, Pradaxa) | Thrombin inhibitor,potent,reversible and direct | 211914-51-1 |
BIBR-1048 | Thrombin inhibitor | 211915-06-9 |
Bivalirudin Trifluoroacetate | Reversible thrombin inhibitor | 128270-60-0 |
CORM-3 | Exhibits anti-inflammatory/cardioprotective effects | 475473-26-8 |
Dabigatran etexilate mesylate | Direct thrombin inhibitor,anticoagulant,prodrug of dabigatran | 872728-81-9 |
Dabigatran ethyl ester | Thrombin activity inhibitor | 429658-95-7 |
heparin cofactor II precursor (SERPIND1) fragment [Homo sapiens] | Thrombin inhibitor | |
heparin cofactor II precursor fragment [Homo sapiens] | Thrombin inhibitor | |
PPACK Dihydrochloride | Thrombin inhibitor | |
Thrombin Receptor Activator for Peptide 5 (TRAP-5) | 141685-53-2 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | F2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | F2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | F2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | F2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | F2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | F2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | F2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | F2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | F2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | f2 30 |
|
||
Str.8528 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.29409 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | f2 30 31 |
|
OneToOne | |
Dr.26855 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11579 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
627173 | Likely Pathogenic: Reduced prothrombin activity | 46,739,365(+) | T/C | MISSENSE_VARIANT | |
627194 | Likely Pathogenic: Reduced prothrombin activity | 46,726,734(+) | GAGA/G | INFRAME_DELETION | |
627289 | Likely Pathogenic: Coagulation factor deficiency syndrome | 46,720,542(+) | A/G | MISSENSE_VARIANT | |
627408 | Likely Pathogenic: Reduced prothrombin activity | 46,726,564(+) | G/A | MISSENSE_VARIANT | |
692073 | Pathogenic: Venous thrombosis | 46,739,326(+) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
prothrombin deficiency, congenital |
|
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thrombophilia due to thrombin defect |
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pregnancy loss, recurrent 2 |
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stroke, ischemic |
|
|
thrombosis |
|