Gene
eng
- ID
- ZDB-GENE-170530-1
- Name
- endoglin
- Symbol
- eng Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Involved in blood vessel morphogenesis; cellular response to mechanical stimulus; and endothelial cell morphogenesis. Predicted to localize to integral component of membrane and plasma membrane. Human ortholog(s) of this gene implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Is expressed in hindbrain and vasculature. Orthologous to human ENG (endoglin).
- Genome Resources
-
- Alliance (1)
- Gene:101883074 (1)
- Note
-
Gene introduced in Sugden et al, Nat Cell Biol. 2017.
- Comparative Information
-
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 18 figures from 5 publications
- 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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hereditary hemorrhagic telangiectasia | WT + MO1-eng | standard conditions | Wang et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Zona pellucida domain | Zona pellucida, ZP-C domain |
|---|---|---|---|
|
UniProtKB:A0A8M9PLN7
|
521 | ||
|
UniProtKB:A0A1Z2R986
|
559 | ||
|
UniProtKB:A0A8M9Q9Y4
|
559 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance