The MBTPS2 gene homepage

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_012797.1
Transcript reference NM_015884.3
Exon/intron information NM_015884.3 exon/intron table
Associated with diseases ID, KFSD, KFSDX, OI, OLMSX, IFAP syndrome with or without BRESHECK syndrome
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Emmelien Aten and Johan den Dunnen
Total number of public variants reported 147
Unique public DNA variants reported 59
Individuals with public variants 124
Hidden variants 7
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.
Date created August 07, 2009
Date last updated September 15, 2020
Version MBTPS2:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015884.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
HGNC 15455
Entrez Gene 51360
PubMed articles MBTPS2
OMIM - Gene 300294
OMIM - Diseases KFSD (keratosis follicularis spinulosa decalvans (KFDS))
KFSDX (keratosis follicularis spinulosa decalvans, X-linked (KFSDX))
OLMSX (keratoderma, palmoplantar, mutilating, with periorificial keratotic plaques, X-linked (Olmsted syndrome, X-liked (OLMSX)))
IFAP syndrome with or without BRESHECK syndrome
GeneCards MBTPS2
GeneTests MBTPS2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000534 X membrane-bound transcription factor peptidase, site 2 NM_015884.3 NP_056968.1 147

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2009-2020. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.