Gene: THBD

Alternate names for this Gene: AHUS6|BDCA-3|BDCA3|CD141|THPH12|THRM|TM

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20p11.21

Description of this Gene: thrombomodulin

Type of Gene: protein-coding

rs3176130 in THBD gene and Electrocardiogram: P-R interval PMID 24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.

rs121918667 in THBD gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PMID 19821824 2010 Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.

PMID 19625716 2009 Thrombomodulin mutations in atypical hemolytic-uremic syndrome.

PMID 19846853 2009 Atypical hemolytic-uremic syndrome.

rs13306848 in THBD gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs13306848 in THBD gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs41348347 in THBD gene and Thrombophilia due to Thrombomodulin Defect PMID 12139752 2002 Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.

PMID 9198186 1997 Thrombomodulin gene variations and thromboembolic disease.

PMID 7811989 1995 The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.