F2 Chromosome 11
Coagulation factor II, thrombin
Upload your DNA to see your personal genotypes for variants in F2.
What This Gene Does
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]
Gene Info
Gene Group
"Receptor ligands|Gla domain containing|Complement system regulators and receptors|Kringle domain containing"
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000180210
Associated Conditions (20)
Congenital prothrombin deficiency
Thrombophilia due to thrombin defect
Inborn genetic diseases
F2-related disorder
Acute myeloid leukemia
Ischemic stroke
Pregnancy loss
recurrent
susceptibility to
2
Cholangiocarcinoma
Uterine corpus endometrial carcinoma
Gastric cancer
Prolonged prothrombin time
PROTHROMBIN TYPE 3
Cerebral palsy
Coagulation factor deficiency syndrome
DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
Venous thromboembolism
Thrombophilia caused by F2 prothrombin deficiency
Key Variants
RS1013222460
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Congenital prothrombin deficiency
Health Risk
RS142949009
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency
Health Risk
RS143064939
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency
Health Risk
RS144587241
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency
Health Risk
RS144857547
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect
Health Risk
RS146742525
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Inborn genetic diseases, F2-related disorder
Health Risk
RS147699032
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect
Health Risk
RS147892497
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect
Health Risk
RS151121282
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Inborn genetic diseases
Health Risk
RS199772906
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Ischemic stroke, Thrombophilia due to thrombin defect
Health Risk
RS200812621
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect
Health Risk
RS2064876977
Conflicting classifications of pathogenicity
Congenital prothrombin deficiency, Congenital prothrombin deficiency
Health Risk
Related Biomarkers (1)
Fibrinogen
monitor
strong
All Variants (64)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1013222460 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS142949009 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS143064939 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS144587241 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS144857547 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect |
| RS146742525 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Inborn genetic diseases, F2-related disorder |
| RS147699032 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect |
| RS147892497 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect |
| RS151121282 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Inborn genetic diseases |
| RS199772906 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Ischemic stroke, Thrombophilia due to thrombin defect |
| RS200812621 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect |
| RS2064876977 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS2502815919 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS3136532 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Inborn genetic diseases, Thrombophilia due to thrombin defect |
| RS368442575 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS370819135 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS375713715 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS5899 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, F2-related disorder |
| RS5900 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS753976233 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS764029414 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS775927207 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Ischemic stroke |
| RS776618390 | Health Risk | Conflicting classifications of pathogenicity | F2-related disorder, Prolonged prothrombin time, Congenital prothrombin deficiency |
| RS886048333 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS886048335 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS886048338 | Health Risk | Conflicting classifications of pathogenicity | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Inborn genetic diseases |
| RS948273916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital prothrombin deficiency, Inborn genetic diseases |
| RS62623459 | Health Risk | Conflicting classifications of pathogenicity; risk factor | PROTHROMBIN TYPE 3, Congenital prothrombin deficiency, Cerebral palsy |
| RS113164417 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918479 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS1227147475 | Health Risk | Likely pathogenic | Coagulation factor deficiency syndrome, Congenital prothrombin deficiency, Coagulation factor deficiency syndrome |
| RS1310397756 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS1401703940 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS1592422740 | Health Risk | Likely pathogenic | Prolonged prothrombin time, Prolonged prothrombin time |
| RS2134532862 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS2134533215 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS2134537035 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS2502824222 | Health Risk | Likely pathogenic | F2-related disorder, F2-related disorder |
| RS2502855781 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS747234596 | Health Risk | Likely pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS754231232 | Health Risk | Likely pathogenic | Prolonged prothrombin time, Prolonged prothrombin time |
| RS767702854 | Health Risk | Likely pathogenic | Prolonged prothrombin time, Prolonged prothrombin time |
| RS1183827513 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS1202167691 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918477 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Thrombophilia due to thrombin defect, Congenital prothrombin deficiency |
| RS121918480 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918481 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918482 | Health Risk | Pathogenic | DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II, DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II |
| RS121918483 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |
| RS121918484 | Health Risk | Pathogenic | Congenital prothrombin deficiency, Congenital prothrombin deficiency |