Gene
tsr2
- ID
- ZDB-GENE-021231-2
- Name
- TSR2 ribosome maturation factor
- Symbol
- tsr2 Nomenclature History
- Previous Names
-
- chunp6926
- dt1p1a10l (1)
- un-named hi1116a
- unm hi1116a
- zgc:109784
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Human ortholog(s) of this gene implicated in Diamond-Blackfan anemia 14 with mandibulofacial dysostosis. Orthologous to human TSR2 (TSR2 ribosome maturation factor).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | Alliance | ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | 300946 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR019398 | Pre-rRNA-processing protein TSR2 |
Domain Details Per Protein
Protein | Length | Pre-rRNA-processing protein TSR2 |
---|---|---|
UniProtKB:Q3KRG3
|
181 | |
UniProtKB:Q8JGT2
|
182 | |
UniProtKB:A0A8M9PQP0
|
137 |
Interactions and Pathways
No data available
Plasmids
No data available