F11 Gene - Coagulation Factor XI
Genetic and Functional Insights into Factor XI Deficiency and Thrombosis
Gene Information Card
| Symbol | F11 |
|---|---|
| Full Name | coagulation factor XI |
| Gene Type | protein-coding |
| Chromosomal Location | 4q35.2 |
| NCBI Gene ID | 2160 ncbi.nlm.nih.gov/gene/2160 |
| Ensembl ID | ENSG00000088926 |
| UniProt ID | P03951 |
| OMIM ID | 264900 |
| HGNC ID | 3529 |
| Aliases | FXI, PTA, factor XI, plasma thromboplastin antecedent |
Description
The F11 gene encodes coagulation factor XI (FXI), a serine protease zymogen that circulates in plasma and is activated to FXIa by factor XIIa (FXIIa), thrombin, or autoactivation. FXIa activates factor IX, initiating the intrinsic pathway of blood coagulation. Deficiency of FXI causes hemophilia C, an autosomal bleeding disorder prevalent in Ashkenazi Jews. Gain-of-function variants are associated with increased thrombotic risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemophilia C (Factor XI Deficiency) | Loss-of-function mutations in F11 reduce FXI activity, impairing clot formation and causing bleeding tendency. | OMIM #264900 |
| Thrombosis (Venous Thromboembolism) | Gain-of-function variants (e.g., p.Glu117Lys) increase FXI activity, elevating thrombin generation and thrombotic risk. | ClinVar, PMID: 15956284 |
| Myocardial Infarction | Elevated FXI levels are associated with increased risk of coronary artery thrombosis. | ClinVar, PMID: 16990514 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Plasma | N/A | Secreted |
| Bone Marrow | 0.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (hepatocellular carcinoma) | 10.2 | Primary site of synthesis |
| HUVEC (endothelial) | 0.1 | Minimal expression |
| K562 (leukemia) | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.403G>A (p.Glu135Lys) | Missense | 1-2% in Ashkenazi Jews | Loss-of-function; causes hemophilia C |
| c.124C>T (p.Gln42*) | Nonsense | <0.1% | Loss-of-function; premature truncation |
| c.1694G>A (p.Glu565Lys) | Missense | Rare | Gain-of-function; increased thrombotic risk |
Mutation functional classification
Loss of Function (LOF)
Most F11 mutations are loss-of-function, leading to reduced FXI activity and hemophilia C. Common in Ashkenazi Jewish populations.
Gain of Function (GOF)
Rare missense variants (e.g., p.Glu565Lys) enhance FXI activation or stability, increasing thrombotic risk.
Dominant Negative (DN)
Not well documented; F11 deficiency is typically autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity (GO:0004252) | • extracellular region (GO:0005576) |
| • blood coagulation (GO:0007596) | • hydrolase activity (GO:0016787) |
Pathways
• Intrinsic pathway of coagulation (Reactome: R-HSA-140837)
• Formation of fibrin clot (Reactome: R-HSA-140877)
• Common pathway of coagulation (KEGG: hsa04610)
Protein Summary
Coagulation factor XI (FXI) is a 607-amino-acid glycoprotein synthesized primarily in the liver and secreted into plasma as a homodimer. Each subunit contains four apple domains (AP1-AP4) and a C-terminal trypsin-like serine protease domain. FXI is activated by FXIIa, thrombin, or autoactivation, and in turn activates factor IX. Deficiency causes hemophilia C, while elevated levels or gain-of-function variants predispose to thrombosis.
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