Gene
thbd
- ID
- ZDB-GENE-110411-281
- Name
- thrombomodulin
- Symbol
- thbd Nomenclature History
- Previous Names
-
- si:ch1073-471m19.4
- TM-a (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to enable calcium ion binding activity; carbohydrate binding activity; and transmembrane signaling receptor activity. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in several diseases, including acute kidney failure; atypical hemolytic-uremic syndrome; cerebrovascular disease (multiple); rheumatoid arthritis; and thrombophilia (multiple). Orthologous to human THBD (thrombomodulin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lee et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| thrombophilia due to thrombomodulin defect | Alliance | Thrombophilia 12 due to thrombomodulin defect | 614486 |
| {Hemolytic uremic syndrome, atypical, susceptibility to, 6} | 612926 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
| Domain | IPR000742 | EGF-like domain |
| Domain | IPR001304 | C-type lectin-like |
| Domain | IPR001881 | EGF-like calcium-binding domain |
| Domain | IPR015149 | Thrombomodulin-like, EGF-like |
| Domain | IPR026823 | Complement Clr-like EGF domain |
| Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
| Family | IPR051505 | C-type lectin domain-containing protein |
| Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
| Homologous_superfamily | IPR016186 | C-type lectin-like/link domain superfamily |
| Homologous_superfamily | IPR016187 | C-type lectin fold |
| PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Domain Details Per Protein
| Protein | Additional Resources | Length | Complement Clr-like EGF domain | C-type lectin domain-containing protein | C-type lectin fold | C-type lectin-like | C-type lectin-like/link domain superfamily | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Growth factor receptor cysteine-rich domain superfamily | NOTCH1 EGF-like calcium-binding domain | Thrombomodulin-like, EGF-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M6Z2V7 | InterPro | 515 | ||||||||||||
| UniProtKB:A0AB32TB02 | InterPro | 515 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available