MBTPS2 (membrane bound transcription factor peptidase, site 2)

2014-07-01  

Identity

HGNC
LOCATION
Xp22.12
LOCUSID
ALIAS
BRESEK,IFAP,KFSD,KFSDX,OI19,OLMSX,S2P
FUSION GENES

Other Information

Locus ID:

NCBI: 51360
MIM: 300294
HGNC: 15455
Ensembl: ENSG00000012174

Variants:

dbSNP: 51360
ClinVar: 51360
TCGA: ENSG00000012174
COSMIC: MBTPS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000012174ENST00000365779B9ZVQ3
ENSG00000012174ENST00000379484O43462

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
ATF6 (ATF6-alpha) activates chaperonesREACTOMER-HSA-381033
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
Chylomicron-mediated lipid transportREACTOMER-HSA-174800
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
118504082002IRE1-mediated unconventional mRNA splicing and S2P-mediated ATF6 cleavage merge to regulate XBP1 in signaling the unfolded protein response.351
152990162004Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6.47
273808942016MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.30
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
193616142009IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.20
235711572013The site-2 protease.17
229319122013A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.10
206723782010Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.8
233160142013Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.8
208544072010A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.4

Citation

Dessen P

MBTPS2 (membrane bound transcription factor peptidase, site 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54057/mbtps2-(membrane-bound-transcription-factor-peptidase-site-2)