F12
Summary: This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| coagulation factor XII | MIM:610619 | Ensembl:ENSG00000131187 | HGNC:HGNC:3530 | PA161 | 5q35.3 |
GO terms in F12
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IDA | GO:0002353 | plasma kallikrein-kinin cascade |
| BP | IDA | GO:0002542 | Factor XII activation |
| BP | IBA | GO:0006508 | proteolysis |
| BP | IC | GO:0007597 | blood coagulation, intrinsic pathway |
| BP | TAS | GO:0007597 | blood coagulation, intrinsic pathway |
| BP | IDA | GO:0010756 | positive regulation of plasminogen activation |
| BP | IDA | GO:0016485 | protein processing |
| BP | IDA | GO:0016540 | protein autoprocessing |
| BP | IDA | GO:0030194 | positive regulation of blood coagulation |
| BP | IDA | GO:0031638 | zymogen activation |
| BP | IEA | GO:0042730 | fibrinolysis |
| BP | TAS | GO:0045087 | innate immune response |
| BP | IDA | GO:0051788 | response to misfolded protein |
| BP | IDA | GO:0051919 | positive regulation of fibrinolysis |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IBA | GO:0005791 | rough endoplasmic reticulum |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IBA | GO:0004252 | serine-type endopeptidase activity |
| MF | IDA | GO:0004252 | serine-type endopeptidase activity |
| MF | TAS | GO:0004252 | serine-type endopeptidase activity |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IC | GO:0051787 | misfolded protein binding |
Gene expression in normal tissue: F12
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in F12
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | intrinsicpathway | intrinsic prothrombin activation pathway |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-140837 | Intrinsic Pathway of Fibrin Clot Formation |
| reactome | R-HSA-140877 | Formation of Fibrin Clot (Clotting Cascade) |
| 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 |
| 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 |
| kegg | hsa04610 | Complement and coagulation cascades - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD351 | GW843682X | 3 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD137 | Indisulam | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in F12
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