F8 (Coagulation Factor VIII)
Essential clotting factor; mutations cause Hemophilia A
Gene Information Card
| Symbol | F8 |
|---|---|
| Full Name | Coagulation Factor VIII |
| Gene Type | protein-coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2157 ncbi.nlm.nih.gov/gene/2157 |
| Ensembl ID | ENSG00000185010 |
| UniProt ID | P00451 |
| OMIM ID | 300841 |
| HGNC ID | 3546 |
| Aliases | F8C, HEMA, FVIII |
Description
The F8 gene encodes coagulation factor VIII, a critical glycoprotein in the intrinsic blood coagulation cascade. Factor VIII circulates in plasma bound to von Willebrand factor and is activated by thrombin. Deficiency or dysfunction of factor VIII causes Hemophilia A, an X-linked recessive bleeding disorder. The gene spans approximately 186 kb and contains 26 exons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemophilia A | Loss-of-function mutations in F8 lead to deficient or dysfunctional factor VIII, impairing intrinsic coagulation pathway and causing prolonged bleeding. | ClinVar, OMIM |
| Thrombosis (rare gain-of-function) | Specific missense mutations (e.g., p.Arg602Gln) can increase factor VIII activity, predisposing to venous thromboembolism. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 0.2 | Low |
| Blood | 0.1 | Low |
| Spleen | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.1 | Hepatocyte cell line; low endogenous expression |
| K562 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Intron 22 inversion | Structural variant | ~45% of severe Hemophilia A | Complete loss of factor VIII function |
| Intron 1 inversion | Structural variant | ~5% of severe Hemophilia A | Complete loss of factor VIII function |
| c.2167G>A (p.Val723Met) | Missense | Common mild/moderate | Reduced factor VIII activity |
Mutation functional classification
Loss of Function (LOF)
Majority of Hemophilia A mutations (nonsense, frameshift, large deletions, inversions) cause complete or partial loss of factor VIII activity.
Gain of Function (GOF)
Rare missense variants (e.g., p.Arg602Gln) increase factor VIII activity and are associated with thrombotic risk.
Dominant Negative (DN)
Not described for F8; disease is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • blood coagulation (GO:0007596) | • calcium ion binding (GO:0005509) |
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • extracellular region (GO:0005576) |
Pathways
• Intrinsic pathway of coagulation (Reactome: R-HSA-140837)
• Formation of Fibrin Clot (Clotting Cascade) (KEGG: hsa04610)
Protein Summary
Factor VIII is a large multidomain glycoprotein (2332 amino acids) synthesized primarily in hepatocytes and endothelial cells. It circulates as a heterodimer bound to von Willebrand factor. Upon proteolytic activation by thrombin, it dissociates and acts as a cofactor for factor IXa in the tenase complex, accelerating factor X activation. Deficiency leads to Hemophilia A, while excess activity can contribute to thrombosis.
Related Services
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