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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:610619
PHARMGKB IDPA161
Map Location5q35.3

Gene Categories:

PROTEASEDRUGGABLE GENOME

GO terms in F12


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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
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Gene expression in normal tissue: F12

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in F12


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD318 PAC-1 3
iGMDRD351 GW843682X 3
iGMDRD536 PLX-4720 1
iGMDRD137 Indisulam 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in F12

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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