ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable glycosaminoglycan binding activity; transforming growth factor beta receptor activity; and type II transforming growth factor beta receptor binding activity. Predicted to contribute to transforming growth factor beta binding activity. Involved in blood vessel morphogenesis; cellular response to mechanical stimulus; and endothelial cell morphogenesis. Acts upstream of or within blood vessel development and heart development. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including brain; cardiovascular system; hematopoietic system; liver; and pleuroperitoneal region. Used to study hereditary hemorrhagic telangiectasia. 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
- 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 | Additional Resources | Length | TGFBR3/Endoglin-like, N-terminal domain | Zona pellucida, ZP-C domain |
|---|---|---|---|---|
| UniProtKB:A0A8M9PLN7 | InterPro | 521 | ||
| UniProtKB:A0A1Z2R986 | InterPro | 559 | ||
| UniProtKB:A0A8M9Q9Y4 | InterPro | 559 | ||
| UniProtKB:A0AC58JMW1 | InterPro | 559 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance