Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     Covered on Genetics Home Reference: atypical hemolytic-uremic syndromeFrom NCBI Gene: Atypical hemolytic-uremic syndrome 6Thrombophilia due to thrombomodulin defectFrom UniProt: Thrombophilia due to thrombomodulin defect (THPH12): A hemostatic disorder characterized by a tendency to thrombosis. [MIM:614486] Hemolytic uremic syndrome atypical 6 (AHUS6): An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. [MIM:612926]

     From NCBI Gene: The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008] From UniProt: Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• NF-kappaB
• PPAR-gamma1
• PPAR-gamma2
• p53
• Egr-1
• NF-kappaB1

Tissue specificity:

Endothelial cells are unique in synthesizing thrombomodulin.

Molecular Function:

• Calcium Ion Binding
• Receptor Activity
• Transmembrane Signaling Receptor Activity

Biological Processes:

• Blood Coagulation
• Female Pregnancy
• Leukocyte Migration
• Negative Regulation Of Blood Coagulation
• Negative Regulation Of Fibrinolysis
• Negative Regulation Of Platelet Activation
• Response To Camp
• Response To Lipopolysaccharide
• Response To X-Ray

Drug Bank:

• Drotrecogin Alfa
• Ibuprofen

*synonyms