Membrane-bound transcription factor protease, site 2

Preferred Label : Membrane-bound transcription factor protease, site 2;

Symbol : MBTPS2;

CISMeF acronym : MBTPS2;

Type : Gene;

Alternative titles and symbols : Site-2 protease; S2P;

Ensembl ID : ENSG00000012174;

Prefixed ID : *300294;

Details

Origin ID

300294;

UMLS CUI

C1423501;

Automatic exact mappings (from CISMeF team)
- membrane bound transcription factor peptidase, site 2 [ORDO Gene]
- membrane bound transcription factor peptidase, site 2 [HGNC gene]
HGNC gene
- membrane bound transcription factor peptidase, site 2 [HGNC gene]
NCIt concept(s)
- MBTPS2 Gene [NCIt concept]
- MBTPS2 wt Allele [NCIt concept]
- Membrane-Bound Transcription Factor Site-2 Protease [NCIt concept]
ORDO concept(s)
- membrane bound transcription factor peptidase, site 2 [ORDO Gene]
Phenotypes related
- Ifap syndrome 1, with or without bresheck syndrome [OMIM Phenotype]
- Keratosis follicularis spinulosa decalvans, X-linked [OMIM Phenotype]
- Olmsted syndrome, X-linked [OMIM Phenotype]
- Osteogenesis imperfecta, type xix [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- MBTPS2 Gene [NCIt concept]
- membrane bound transcription factor peptidase, site 2 [HGNC gene]

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