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 enable deUFMylase activity. Predicted to be involved in proteolysis and ribosome disassembly. Predicted to be located in cytoplasm. Predicted to be active in 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 and developmental and epileptic encephalopathy 106. 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 | UfSP1/2/DUB, catalytic domain |
|---|---|---|---|
|
UniProtKB:Q7T347
|
401 | ||
|
UniProtKB:B8JIG4
|
466 |
Interactions and Pathways
No data available
Plasmids
No data available