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 have ephrin receptor binding activity. Involved in embryonic liver development and optic vesicle morphogenesis. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in craniofrontonasal syndrome and dysostosis. Is expressed in several structures, including alar plate midbrain region; central nervous system; hepatoblast; intestinal rod; and liver and biliary system. 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