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Gene: MBTPS2 (membrane bound transcription factor peptidase, site 2) Homo sapiens
Symbol: MBTPS2
Name: membrane bound transcription factor peptidase, site 2
Description: This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRESEK; endopeptidase S2P; FLJ32174; IFAP; keratosis follicularis spinulosa decalvans; KFSD; KFSDX; membrane-bound transcription factor peptidase, site 2; membrane-bound transcription factor protease, site 2; membrane-bound transcription factor site-2 protease; OI19; OLMSX; S2P; site-2 protease; SREBPs intramembrane protease; sterol regulatory element-binding proteins intramembrane protease
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X21,839,538 - 21,885,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X21,857,656 - 21,916,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,767,675 - 21,810,794 (+)NCBINCBI36hg18NCBI36
Build 34X21,617,410 - 21,660,530NCBI
CeleraX25,979,352 - 26,025,249 (+)NCBI
Cytogenetic MapXp22.12NCBI
HuRefX19,598,870 - 19,644,630 (+)NCBIHuRef
CHM1_1X21,888,082 - 21,933,974 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on MBTPS2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1342985
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.