• Gene id: 51360

Gene Summary

• Gene Symbol: MBTPS2   Gene   UCSC   Ensembl
• Aliases: BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P
• Gene name: membrane bound transcription factor peptidase, site 2
• Alternate names: membrane-bound transcription factor site-2 protease, SREBPs intramembrane protease, endopeptidase S2P, keratosis follicularis spinulosa decalvans, membrane-bound transcription factor protease, site 2, site-2 protease, sterol regulatory element-binding proteins ,
• Gene location: Xp22.12 (21839616: 21885422)     Exons: 11     NC_000023.11
• Gene summary(Entrez): 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 as
• OMIM: 300294

Protein Summary

• Protein general information: O43462  
  • Name: Membrane bound transcription factor site 2 protease (EC 3.4.24.85) (Endopeptidase S2P) (Sterol regulatory element binding proteins intramembrane protease) (SREBPs intramembrane protease)
  • Length: 519  
  • Mass: 57444
  • Tissue specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. {ECO
• Sequence:

  MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKARMLYQW
  FNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGI
  NLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQLISPVQQLRIFCAGI
  WHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI
  AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPARKAVEATQVCRTNK
  DCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLIS
  LSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGFFILLGGSVLLAANVTLGLWMVTAR

• Structural information:
  • Interpro: IPR001193  IPR036034  IPR008915  
  • Prosite: PS00142
  • STRING: ENSP00000368798
• Other Databases: GeneCards:  MBTPS2  Malacards:  MBTPS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036500	ATF6-mediated unfolded protein response	TAS	biological process
GO:1990440	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IGI	biological process
GO:0034976	response to endoplasmic reticulum stress	ISS	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IGI	biological process
GO:0031293	membrane protein intracellular domain proteolysis	IGI	biological process
GO:1990440	positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress	IBA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IBA	biological process
GO:0031293	membrane protein intracellular domain proteolysis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0070977	bone maturation	IMP	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008202	steroid metabolic process	IEA	biological process
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0008203	cholesterol metabolic process	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0004222	metalloendopeptidase activity	EXP	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0030968	endoplasmic reticulum unfolded protein response	TAS	biological process
GO:0036500	ATF6-mediated unfolded protein response	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Keratosis follicularis spinulosa decalvans	KEGG:H00750
Ichthyosis follicularis, alopecia, and photophobia syndrome	KEGG:H00740
Keratosis follicularis spinulosa decalvans	KEGG:H00750
Ichthyosis follicularis, alopecia, and photophobia syndrome	KEGG:H00740
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881