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
Note
Gene introduced in Sugden et al, Nat Cell Biol. 2017.
Expression
All Expression Data
2 figures from Sugden et al., 2017
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
8 figures from Sugden et al., 2017
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With eng Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary hemorrhagic telangiectasia Alliance Telangiectasia, hereditary hemorrhagic, type 1 187300
Associated With eng Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
No data available
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations