Gene
mbtps2
- ID
- ZDB-GENE-030131-6598
- Name
- membrane-bound transcription factor peptidase, site 2
- Symbol
- mbtps2 Nomenclature History
- Previous Names
-
- s2p (1)
- fb72d02
- wu:fb72d02
- wu:fk47a09
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable metalloendopeptidase activity. Acts upstream of or within cartilage development and lipid metabolic process. Predicted to be located in membrane. Predicted to be active in cytoplasm. 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).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:109961 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Schlombs et al., 2003
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ichthyosis follicularis-alopecia-photophobia syndrome 1 | Alliance | IFAP syndrome with or without BRESHECK syndrome | 308205 |
| osteogenesis imperfecta type 19 | Alliance | Osteogenesis imperfecta, type XIX | 301014 |
| X-linked keratosis follicularis spinulosa decalvans | Alliance | Keratosis follicularis spinulosa decalvans, X-linked | 308800 |
| X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques | Alliance | ?Olmsted syndrome, X-linked | 300918 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Membrane-bound transcription factor site-2 protease | PDZ superfamily | Peptidase M50 |
|---|---|---|---|---|
|
UniProtKB:Q4V9P5
|
494 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mbtps2-201
(1)
|
Ensembl | 3,026 nt |
Interactions and Pathways
No data available
Plasmids
No data available