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 |
|---|---|---|---|---|---|
| coagulation factor VIII | MIM:300841 | Ensembl:ENSG00000185010 | HGNC:HGNC:3546 | PA27952 | Xq28 |
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 |
| BP | IEA | GO:0006953 | acute-phase response |
| BP | TAS | GO:0007596 | blood coagulation |
| BP | IBA | GO:0007597 | blood coagulation, intrinsic pathway |
| BP | TAS | GO:0007597 | blood coagulation, intrinsic pathway |
| BP | IEA | GO:0030168 | platelet activation |
| BP | TAS | GO:0048208 | COPII vesicle coating |
| BP | IEA | GO:0055114 | oxidation-reduction process |
| CC | IEA | GO:0000139 | Golgi membrane |
| CC | NAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IEA | GO:0005615 | extracellular space |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0030134 | COPII-coated ER to Golgi transport vesicle |
| CC | TAS | GO:0031093 | platelet alpha granule lumen |
| CC | TAS | GO:0033116 | endoplasmic reticulum-Golgi intermediate compartment membrane |
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) |
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-204005 | COPII-mediated vesicle transport |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5694530 | Cargo concentration in the ER |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
| smpdb | SMP00268 | Warfarin Action Pathway |
| smpdb | SMP00269 | Acenocoumarol Action Pathway |
| smpdb | SMP00270 | Dicumarol Action Pathway |
| smpdb | SMP00271 | Phenprocoumon Action Pathway |
| smpdb | SMP00272 | Enoxaparin Action Pathway |
| smpdb | SMP00273 | Fondaparinux Action Pathway |
| smpdb | SMP00274 | Heparin Action Pathway |
| smpdb | SMP00275 | Ardeparin Action Pathway |
| smpdb | SMP00276 | Argatroban Action Pathway |
| smpdb | SMP00277 | Bivalirudin Action Pathway |
| smpdb | SMP00278 | Lepirudin Action Pathway |
| smpdb | SMP00279 | Ximelagatran Action Pathway |
| smpdb | SMP00280 | Alteplase Action Pathway |
| smpdb | SMP00281 | Anistreplase Action Pathway |
| smpdb | SMP00282 | Streptokinase Action Pathway |
| smpdb | SMP00283 | Tenecteplase Action Pathway |
| smpdb | SMP00284 | Urokinase Action Pathway |
| smpdb | SMP00285 | Reteplase Action Pathway |
| smpdb | SMP00286 | Aminocaproic Acid Action Pathway |
| smpdb | SMP00287 | Tranexamic Acid Action Pathway |
| smpdb | SMP00288 | Aprotinin Action Pathway |
| smpdb | SMP00586 | Coagulation |
| smpdb | SMP00655 | Phenindione Action Pathway |
| smpdb | SMP00656 | Dicoumarol Action Pathway |
| wikipathways | WP272 | Blood Clotting Cascade |
| wikipathways | WP3896 | Dengue-2 Interactions with Complement and Coagulation Cascades |
| wikipathways | WP3897 | Dengue-2 Interactions with Blood Clotting Cascade |
| wikipathways | WP558 | Complement and Coagulation Cascades |
| kegg | hsa04610 | Complement and coagulation cascades - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD871 | BRD6368 | 4 |
| iGMDRD662 | JQ-1 | 2 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD263 | AACOCF3 | 1 |
| iGMDRD552 | AZD-1775 | 2 |
| iGMDRD246 | NPC26 | 2 |
| iGMDRD886 | Compound 1541A | 1 |
| iGMDRD505 | Pevonedistat | 4 |
| iGMDRD322 | FK 866 | 2 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD434 | BMS-536924 | 1 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD213 | SMR000068650 | 2 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD698 | Neratinib | 2 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD211 | (1S,3R)-RSL3 | 1 |
| iGMDRD435 | BI-2536 | 2 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 4 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD307 | Manumycin A | 2 |
| iGMDRD486 | Tosedostat | 1 |
| iGMDRD84 | Lovastatin acid | 4 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD150 | RITA | 3 |
| iGMDRD583 | LDN 193189 | 1 |
| iGMDRD188 | Piperlongumine | 4 |
| iGMDRD888 | Compound 44 | 8 |
| iGMDRD577 | BIX01294 | 1 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD64 | Parbendazole | 6 |
| iGMDRD23 | Gossypol | 1 |
| iGMDRD474 | Avrainvillamide | 4 |
| iGMDRD138 | PX 12 | 6 |
| iGMDRD260 | FQI-2 | 2 |
| iGMDRD870 | BRD63610 | 2 |
| iGMDRD226 | ML006 | 1 |
| iGMDRD446 | LY 2183240 | 4 |
| iGMDRD193 | Fqi1 | 3 |
| iGMDRD466 | Chaetocin | 1 |
| iGMDRD280 | CYTOCHALASIN B | 5 |
| iGMDRD679 | Bistramide A | 3 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD159 | 3-Chloro-L-alanine | 1 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD433 | Lexibulin | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD779 | PRL-3 Inhibitor I | 1 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD483 | SCH-529074 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in F8
CLASSFICATION
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