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 have calcium ion binding activity and transmembrane signaling receptor activity. Predicted to localize to integral component of 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 | 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
|
515 |
Interactions and Pathways
No data available
Plasmids
No data available