F8
Summary: This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:300841 Ensembl IDEnsembl:ENSG00000185010 HGNC IDHGNC:HGNC:3546 PHARMGKB IDPA27952 Map LocationXq28 |
Gene Categories:
DRUGGABLE GENOMEGO terms in F8
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IEA | GO:0005507 | copper ion binding |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0016491 | oxidoreductase activity |
MF | IBA | GO:0070492 | oligosaccharide binding |
BP | TAS | GO:0002576 | platelet degranulation |
BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
Gene expression in normal tissue: F8
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in F8
Database | Pathway ID | Pathway Des. |
---|---|---|
biocarta | intrinsicpathway | intrinsic prothrombin activation pathway |
reactome | R-HSA-109582 | Hemostasis |
reactome | R-HSA-114608 | Platelet degranulation |
reactome | R-HSA-140837 | Intrinsic Pathway of Fibrin Clot Formation |
reactome | R-HSA-140875 | Common Pathway of Fibrin Clot Formation |
reactome | R-HSA-140877 | Formation of Fibrin Clot (Clotting Cascade) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in F8
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |