Identity
HGNC
LOCATION
Xp22.12
LOCUSID
ALIAS
BRESEK,IFAP,KFSD,KFSDX,OI19,OLMSX,S2P
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51360
MIM: 300294
HGNC: 15455
Ensembl: ENSG00000012174
Variants:
dbSNP: 51360
ClinVar: 51360
TCGA: ENSG00000012174
COSMIC: MBTPS2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000012174 | ENST00000365779 | B9ZVQ3 |
| ENSG00000012174 | ENST00000379484 | O43462 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33743732 | 2021 | MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. | 8 |
| 33743732 | 2021 | MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders. | 8 |
| 29951998 | 2019 | Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. | 2 |
| 30294811 | 2019 | Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree. | 1 |
| 30589367 | 2019 | Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation. | 0 |
| 29951998 | 2019 | Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. | 2 |
| 30294811 | 2019 | Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree. | 1 |
| 30589367 | 2019 | Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation. | 0 |
| 28717930 | 2017 | Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. | 5 |
| 28717930 | 2017 | Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. | 5 |
| 27380894 | 2016 | MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. | 58 |
| 27380894 | 2016 | MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. | 58 |
| 22931912 | 2013 | A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. | 16 |
| 23316014 | 2013 | Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. | 14 |
| 23571157 | 2013 | The site-2 protease. | 26 |
Citation
Dessen P
MBTPS2 (membrane bound transcription factor peptidase, site 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-07-01
Online version: http://atlasgeneticsoncology.org/gene/54057/mbtps2-(membrane-bound-transcription-factor-peptidase-site-2)
