Ufsp2 Gene Summary [Mouse]
Enables deUFMylase activity. Involved in regulation of type II interferon production. Located in endoplasmic reticulum and nucleus. Is expressed in liver; orbito-sphenoid; pancreas epithelium; and turbinate bone primordium. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ufsp2 |
| Official Name | UFM1-specific peptidase 2 [Source:MGI Symbol;Acc:MGI:1913679] |
| Ensembl ID | ENSMUSG00000031634 |
| Bio databases IDs | |
| Aliases | UFM1-specific peptidase 2 |
| Synonyms | 1810047C23Rik, BHD, C4orf20, DEE106, RGD1311161, SEMDDR, UFM1-specific peptidase 2 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ufsp2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cysteine-type peptidase
- peptidase
- Peptidase family C78
- protein binding
- ubiquitin-like-specific protease
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Beukes type hip dysplasia
- Di Rocco type spondyloepimetaphyseal dysplasia
- developmental and epileptic encephalopathy type 106
- X-linked myoclonic epilepsy with generalized spasticity and intellectual disability
- congenital dislocation of hip
- cortical visual impairment and intellectual disability
role in cell
- expression in
- activation in
- disassembly
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ufsp2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ribosome disassembly
- proteolysis
- regulation of intracellular estrogen receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- UFM1 hydrolase activity