Gene
efnb1
- ID
- ZDB-GENE-010618-2
- Name
- ephrin-B1
- Symbol
- efnb1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to enable ephrin receptor binding activity. Acts upstream of or within embryonic liver development and optic vesicle morphogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including alar plate midbrain region; central nervous system; hepatoblast; intestinal rod; and liver and biliary system. Human ortholog(s) of this gene implicated in craniofrontonasal syndrome and dysostosis. Orthologous to human EFNB1 (ephrin B1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu368 (18 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| craniofrontonasal syndrome | Alliance | Craniofrontonasal dysplasia | 304110 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cupredoxin | Ephrin | Ephrin, conserved site | Ephrin receptor-binding domain |
|---|---|---|---|---|---|
|
UniProtKB:Q90Z33
|
341 |
Interactions and Pathways
Plasmids
No data available