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
- Is predicted to be an extracellular matrix structural constituent. Involved in blood vessel morphogenesis; cellular response to mechanical stimulus; and endothelial cell morphogenesis. Acts upstream of or within angiogenesis. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Is expressed in several structures, including blood; brain; cardiovascular system; liver; and pleuroperitoneal region. 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.
- Comparative Information
-
- All Expression Data
- 4 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 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:A0A1Z2R986
|
559 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance