Gene
ufsp2
- ID
- ZDB-GENE-030131-8726
- Name
- ufm1-specific peptidase 2
- Symbol
- ufsp2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have UFM1 hydrolase activity and thiolester hydrolase activity. Predicted to be involved in proteolysis. Predicted to localize to endoplasmic reticulum and nucleus. Is expressed in hatching gland; myotome; notochord; polster; and segmental plate. Human ortholog(s) of this gene implicated in Beukes hip dysplasia. Orthologous to human UFSP2 (UFM1 specific peptidase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb891 (6 images)
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 |
|---|---|---|---|
| Beukes hip dysplasia | Alliance | ?Hip dysplasia, Beukes type | 142669 |
| developmental and epileptic encephalopathy 106 | Alliance | Developmental and epileptic encephalopathy 106 | 620028 |
| Spondyloepimetaphyseal dysplasia, Di Rocco type | 617974 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Ubiquitin-fold modifier 1 specific protease 2-like, N-terminal | UFM1-specific isopeptidase | UfSP1/2/DUB, catalytic domain |
|---|---|---|---|---|
|
UniProtKB:Q7T347
|
401 | |||
|
UniProtKB:B8JIG4
|
466 |
Interactions and Pathways
No data available
Plasmids
No data available