THBD thrombomodulin
Gene ID: 7056, updated on 29-Jul-2024Gene type: protein coding
Also known as: TM; THRM; AHUS6; BDCA3; CD141; BDCA-3; THPH12
- See all available tests in GTR for this gene
- Go to complete Gene record for THBD
- Go to Variation Viewer for THBD variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Atypical hemolytic-uremic syndrome with thrombomodulin anomaly | See labs |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Thrombomodulin-related bleeding disorder | See labs |
Genomic context
- Location:
- 20p11.21
- Sequence:
- Chromosome: 20; NC_000020.11 (23045633..23049672, complement)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for THBD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- THBD database
- Variation ViewerRelated Variants
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