MBTPS2 Gene Summary [Human]
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Details
| Type | Processed Transcript |
| Official Symbol | MBTPS2 |
| Official Name | membrane bound transcription factor peptidase, site 2 [Source:HGNC Symbol;Acc:HGNC:15455] |
| Ensembl ID | ENSG00000012174 |
| Bio databases IDs | |
| Aliases | membrane bound transcription factor peptidase, site 2, site-2 protease, sterol regulatory element-binding proteins intramembrane protease |
| Synonyms | 9630032G22Rik, AI662535, BRESEK, IFAP, KFSD, KFSDX, LOC203411, LRRGT00063, membrane-bound transcription factor peptidase, site 2, OI19, OLMSX, S2P, Site 2 protease |
| Species | Human, Homo sapiens |
| 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 human 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 human 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 human 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