Gene
rbpjb
- ID
- ZDB-GENE-070319-1
- Name
- recombination signal binding protein for immunoglobulin kappa J region b
- Symbol
- rbpjb Nomenclature History
- Previous Names
-
- Su(H)2 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within several processes, including circulatory system development; kidney development; and regionalization. Predicted to be located in cytoplasm and nucleus. Predicted to be part of MAML1-RBP-Jkappa- ICN1 complex. Is expressed in eye and head. Human ortholog(s) of this gene implicated in Adams-Oliver syndrome and dilated cardiomyopathy. Orthologous to human RBPJ (recombination signal binding protein for immunoglobulin kappa J region).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Echeverri et al., 2007
- Cross-Species Comparison
- Alliance
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
Interactions and Pathways
No data available
Plasmids
No data available