THBD Gene (Thrombomodulin)
Key regulator of coagulation and inflammation
Gene Information Card
| Symbol | THBD |
|---|---|
| Full Name | Thrombomodulin |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 7056 ncbi.nlm.nih.gov/gene/7056 |
| Ensembl ID | ENSG00000178726 |
| UniProt ID | P07204 |
| OMIM ID | 188040 |
| HGNC ID | 11784 |
| Aliases | TM, CD141, THRM, AHUS6 |
Description
The THBD gene encodes thrombomodulin, an endothelial cell surface glycoprotein that acts as a cofactor for thrombin-mediated activation of protein C, thereby regulating coagulation and inflammation. It is involved in anticoagulant pathways and is associated with thrombotic disorders and atypical hemolytic uremic syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Thrombophilia, hereditary, due to THBD deficiency | Loss of thrombomodulin function reduces protein C activation, increasing thrombosis risk | ClinVar, OMIM #188040 |
| Atypical hemolytic uremic syndrome (aHUS) | THBD mutations impair complement regulation on endothelium, leading to microvascular thrombosis | ClinVar, OMIM #612926 |
| Thrombomodulin deficiency | Homozygous or compound heterozygous mutations cause severe neonatal thrombosis | OMIM #188040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 45.2 | High |
| Heart | 32.1 | High |
| Kidney | 28.5 | High |
| Liver | 12.3 | Medium |
| Brain | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 120.0 | High expression |
| A549 (lung) | 35.0 | Moderate |
| HEK293 (embryonic kidney) | 18.0 | Moderate |
| K562 (leukemia) | 2.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1456G>A (p.Ala486Thr) | Missense | Rare | Reduced protein C activation |
| c.1681C>T (p.Arg561Cys) | Missense | Rare | Impaired thrombin binding |
| c.127G>A (p.Ala43Thr) | Missense | Rare | Associated with aHUS |
Mutation functional classification
Loss of Function (LOF)
Missense mutations reducing thrombomodulin cofactor activity for protein C activation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • thrombomodulin activity |
| • receptor activity | • endothelial cell surface |
| • blood coagulation |
Pathways
• Protein C anticoagulant pathway
• Complement and coagulation cascades (KEGG: hsa04610)
Protein Summary
Thrombomodulin is a 575-amino acid type I transmembrane glycoprotein expressed on endothelial cells. It binds thrombin with high affinity, converting it from a procoagulant to an anticoagulant enzyme that activates protein C. The protein contains an N-terminal lectin-like domain, six EGF-like repeats, a serine/threonine-rich region, a transmembrane domain, and a short cytoplasmic tail. It also modulates complement activation and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THBD Knockout HEK293 Cell Line | EDJ-KQ3232 | Human | 7056 | Details Get a Quote |
| THBD Knockout A-549 Cell Line | EDJ-KQ23349 | Human | 7056 | Details Get a Quote |
| THBD Knockout HeLa Cell Line | EDJ-KQ24741 | Human | 7056 | Details Get a Quote |
| THBD Knockout HCT 116 Cell Line | EDJ-KQ71607 | Human | 7056 | Details Get a Quote |
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