Gene
eng
- ID
- ZDB-GENE-170530-1
- Name
- endoglin
- Symbol
- eng Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Unmapped
- Description
- Predicted to have extracellular matrix structural constituent. Involved in blood vessel morphogenesis; cellular response to mechanical stimulus; and endothelial cell morphogenesis. Predicted to localize to apical plasma membrane; cell surface; and extracellular space. Is expressed in hindbrain and vasculature. Human ortholog(s) of this gene implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Orthologous to human ENG (endoglin).
- Genome Resources
-
- Alliance (1)
- Gene:101883074 (1)
- Note
-
Gene introduced in Sugden et al, Nat Cell Biol. 2017.
- All Expression Data
- 2 figures from Sugden et al., 2017
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 8 figures from Sugden et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary hemorrhagic telangiectasia | Alliance | Telangiectasia, hereditary hemorrhagic, type 1 | 187300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001507 | Zona pellucida domain |
Domain Details Per Protein
| Protein | Length | Zona pellucida domain |
|---|---|---|
|
UniProtKB:A0A1Z2R986
|
559 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available