Mbtps2 Gene Summary [Mouse]
Predicted to enable metalloendopeptidase activity and transcription regulator activator activity. Involved in mitotic G2 DNA damage checkpoint signaling. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including cerebellum; genitourinary system; hemolymphoid system gland; liver; and pallium. Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Processed Transcript |
| Official Symbol | Mbtps2 |
| Official Name | membrane-bound transcription factor peptidase, site 2 [Source:MGI Symbol;Acc:MGI:2444506] |
| Ensembl ID | ENSMUSG00000046873 |
| Bio databases IDs | |
| Aliases | membrane-bound transcription factor peptidase, site 2 |
| Synonyms | 9630032G22Rik, AI662535, BRESEK, IFAP, KFSD, KFSDX, LOC203411, LRRGT00063, membrane-bound transcription factor peptidase, site 2, OI19, OLMSX, S2P, Site 2 protease |
| 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 Mbtps2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- S2P-M50
- Peptidase family M50
- peptidase
- cpPDZ_Deg_HtrA-like
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the Mbtps2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- IFAP syndrome with BRESHECK syndrome
- IFAP syndrome 1
- IFAP syndrome
- X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
- type XIX osteogenesis imperfecta
- X-linked keratosis follicularis spinulosa decalvans
- severe acute respiratory syndrome
role in cell
- senescence
- molecular cleavage in
- G2/M phase
- endoplasmic reticulum stress response
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
- cellular membrane
- endoplasmic reticulum membrane
- Golgi membrane
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Mbtps2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitotic cell cycle G2/M transition DNA damage checkpoint
- regulation of cholesterol biosynthetic process
- endoplasmic reticulum unfolded protein response
- membrane protein intracellular domain proteolysis
- cholesterol metabolic process
- protein maturation
- bone maturation
- positive regulation of transcription from RNA polymerase II promoter
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- metalloendopeptidase activity