AlphaFold predicted structure
F2 · P00734
Mean pLDDT
83.9/ 100
Confident
622 residues
Confidence breakdown
- Very high(≥ 90)55%
- Confident(70–90)28%
- Low(50–70)7%
- Very low(< 50)10%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
F2
Chr 11p11.2coagulation factor II, thrombin
- MANE:
- ENST00000311907.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomalFactor II deficiency
BIALLELIC, autosomal or pseudoautosomalInherited bleeding disorders
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalThrombophilia with a likely monogenic cause
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital prothrombin deficiency
0.82Congenital factor II deficiency
0.80thrombophilia due to thrombin defect
0.74venous thromboembolism
0.71deep vein thrombosis
0.67blood coagulation disease
0.67ischemic stroke
0.67prothrombin deficiency
0.66pulmonary embolism
0.64hereditary thrombophilia due to congenital protein C deficiency
0.60
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Prothrombin
Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Activates coagulation factor XI (F11); activation is promoted by the contact with negatively charged surfaces (PubMed:2019570, PubMed:21976677). Triggers the production of pro-inflammatory cytokines, such as MCP-1/CCL2 and IL8/CXCL8, in endothelial cells (PubMed:30568593, PubMed:9780208)
Diseases associated with F2
Curated MONDO disease pages that list F2 among their top associated genes.