The MBTPS2 gene homepage
 Osteogenesis Imperfecta Variant Database
| General information |
| Gene symbol |
MBTPS2 |
| Gene name |
membrane-bound transcription factor peptidase, site 2 |
| Chromosome |
X |
| Chromosomal band |
p22.12-p22.11 |
| Imprinted |
Unknown |
| Genomic reference |
NG_012797.2 |
| Transcript reference |
NM_015884.3 |
| Exon/intron information |
NM_015884.3 exon/intron table |
| Associated with diseases |
ID, KFSD, KFSDX, OI, OI19, IFAP syndrome with/without BRESHECK syndrome, Olmsted syndrome, X-linked |
| Citation reference(s) |
- |
| Refseq URL |
Genomic reference sequence |
| Curators (5) |
Johan den Dunnen, Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha |
| Total number of public variants reported |
160 |
| Unique public DNA variants reported |
66 |
| Individuals with public variants |
126 |
| Hidden variants |
9 |
| Download all this gene's data |
Download all data |
| Notes |
When using this databse please refer to Aten et al. (2010), Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum.Mutat. 31: 1125-1133.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
This database is supported by  Osteogenesis Imperfecta Federation Europe (OIFE) |
| Date created |
August 07, 2009 |
| Date last updated |
February 26, 2024 |
| Version |
MBTPS2:240226 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2009-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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