membrane bound transcription factor peptidase, site 2
| UniProt | Protein Name |
|---|---|
| O43462 |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitotic G2 DNA damage checkpoint signaling | ||
| cholesterol metabolic process | ||
| endoplasmic reticulum unfolded protein response | ||
| membrane protein intracellular domain proteolysis | ||
| membrane protein intracellular domain proteolysis |
| GO Term | Evidence Code | PMID |
|---|---|---|
| metalloendopeptidase activity | ||
| metalloendopeptidase activity | ||
| metalloendopeptidase activity | ||
| metal ion binding | ||
| transcription regulator activator activity |
| Gene Ontology |
|---|
| membrane protein intracellular domain proteolysis |
| metalloendopeptidase activity |
| proteolysis |
| regulation of response to endoplasmic reticulum stress |
| InterPro |
|---|
| Membrane-bound transcription factor site-2 protease |
| PDZ superfamily |
| Peptidase M50 |
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080754 | X-linked keratosis follicularis spinulosa decalvans | |
| DOID:0111821 | ichthyosis follicularis-alopecia-photophobia syndrome 1 | |
| DOID:0111847 | osteogenesis imperfecta type 19 | |
| DOID:0112012 | X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: December 8, 2025