Gene
rbbp8
- ID
- ZDB-GENE-050220-14
- Name
- retinoblastoma binding protein 8
- Symbol
- rbbp8 Nomenclature History
- Previous Names
-
- zgc:113143
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have DNA binding activity and single-stranded DNA endodeoxyribonuclease activity. Predicted to be involved in DNA double-strand break processing involved in repair via single-strand annealing and double-strand break repair via homologous recombination. Predicted to localize to site of double-strand break. Human ortholog(s) of this gene implicated in Seckel syndrome 2. Orthologous to human RBBP8 (RB binding protein 8, endonuclease).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:113143 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Seckel syndrome 2 | Alliance | Seckel syndrome 2 | 606744 |
| Jawad syndrome | 251255 | ||
| Pancreatic carcinoma, somatic |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DNA endonuclease activator Ctp1, C-terminal | DNA endonuclease Ctp1, N-terminal | DNA endonuclease RBBP8-like |
|---|---|---|---|---|
|
UniProtKB:F1R983
|
651 |
Interactions and Pathways
No data available
Plasmids
No data available