Gene
rbpja
- ID
- ZDB-GENE-031117-1
- Name
- recombination signal binding protein for immunoglobulin kappa J region a
- Symbol
- rbpja Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have RNA polymerase II repressing transcription factor binding activity and sequence-specific DNA binding activity. Involved in several processes, including animal organ development; blood vessel development; and embryonic pattern specification. Predicted to localize to MAML1-RBP-Jkappa- ICN1 complex; nucleus; and transcription factor complex. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and dilated cardiomyopathy. Is expressed in head; midbrain; and otic vesicle. Orthologous to human RBPJ (recombination signal binding protein for immunoglobulin kappa J region).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Adams-Oliver syndrome | Alliance | Adams-Oliver syndrome 3 | 614814 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available