Version 5.4
Mus musculus Gene: Mbtps2
Summary
InnateDB Gene IDBG-181722.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Mbtps2
Gene Name membrane-bound transcription factor peptidase, site 2
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000046873
Encoded Proteins
IDBP-181726
membrane-bound transcription factor peptidase, site 2
IDBP-255837
membrane-bound transcription factor peptidase, site 2
IDBP-540756
membrane-bound transcription factor peptidase, site 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000012174:
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:157535371-157598715
Strand Reverse strand
Band F4
Transcripts
ENSMUST00000065857
ENSMUST00000058098 ENSMUSP00000059471
ENSMUST00000112522 ENSMUSP00000108141
ENSMUST00000134211
ENSMUST00000139786
ENSMUST00000149249 ENSMUSP00000118134
ENSMUST00000152826
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0004222 metalloendopeptidase activity
GO:0005515 protein binding
GO:0046872 metal ion binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0008203 cholesterol metabolic process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000012174
View Gene Order
ENSBTAG00000008183
Not yet available
Pathways
NETPATH
REACTOME
REACT_198968
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
REACT_239697
Unfolded Protein Response (UPR) pathway
REACT_188937
Metabolism pathway
REACT_247926
Metabolism of proteins pathway
REACT_232291
Metabolism of lipids and lipoproteins pathway
REACT_231897
ATF6-alpha activates chaperones pathway
KEGG
mmu04141
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_18348
ATF6-alpha activates chaperones pathway
REACT_147797
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
REACT_18356
Unfolded Protein Response (UPR) pathway
REACT_22258
Metabolism of lipids and lipoproteins pathway
REACT_17015
Metabolism of proteins pathway
REACT_111217
Metabolism pathway
REACT_213782
Metabolism of proteins pathway
REACT_219933
Metabolism of lipids and lipoproteins pathway
REACT_219139
Metabolism pathway
REACT_226614
Unfolded Protein Response (UPR) pathway
REACT_208174
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
REACT_213463
ATF6-alpha activates chaperones pathway
KEGG
hsa04141
Protein processing in endoplasmic reticulum pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.37577 Mm.396031 Mm.488262
RefSeq NM_172307
OMIM
CCDS CCDS30498 CCDS53233
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca