Homo sapiens Gene: MBTPS2
Summary
InnateDB Gene IDBG-51394.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MBTPS2
Gene Name membrane-bound transcription factor peptidase, site 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000012174
Encoded Proteins
membrane-bound transcription factor peptidase, site 2
membrane-bound transcription factor peptidase, site 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:21839636-21885424
Strand Forward strand
Band p22.12
Transcripts
ENST00000379484 ENSP00000368798
ENST00000365779 ENSP00000368796
ENST00000465888
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006508 proteolysis
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0008203 cholesterol metabolic process
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Unfolded Protein Response (UPR) pathway
Metabolism of lipids and lipoproteins pathway
Metabolism of proteins pathway
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Metabolism pathway
ATF6-alpha activates chaperones pathway
KEGG
Protein processing in endoplasmic reticulum pathway
INOH
PID BIOCARTA
Srebp control of lipid synthesis [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.443490 Hs.645203
RefSeq NM_015884
HUGO
OMIM
CCDS CCDS14201
HPRD 02243
IMGT
EMBL
GenPept
RNA Seq Atlas