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 153
Unique public DNA variants reported 64
Individuals with public variants 125
Hidden variants 10
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 May 09, 2022
Version MBTPS2:220509

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 https://www.LOVD.nl/MBTPS2
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
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))
OI19 (osteogenesis imperfecta type XIX (OI19))
IFAP syndrome with/without BRESHECK syndrome
Olmsted syndrome, X-linked
HGMD MBTPS2
GeneCards MBTPS2
GeneTests MBTPS2
Orphanet MBTPS2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000534 X membrane-bound transcription factor peptidase, site 2 NM_015884.3 NP_056968.1 153


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