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 enable damaged DNA binding activity. Predicted to be involved in DNA double-strand break processing involved in repair via single-strand annealing. Predicted to act upstream of or within DNA repair; cell division; and meiotic cell cycle. Predicted to be located in chromosome and nucleus. 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