full name
membrane bound transcription factor peptidase, site 2

synonyms
BRESEK, IFAP, KFSDX, S2P, MBTPS2, ENSG00000012174

HGNC
HGNC:15455

Entrez Gene
Gene:51360

ENSEMBL
ENSG00000012174

location
chr: X
start: 21857656
stop: 21916427
strand: +

OMIM
OMIM:300294: MBTPS2
OMIM:300918: ?Olmsted syndrome, X-linked
OMIM:308205: IFAP syndrome with or without BRESHECK syndrome
OMIM:308800: Keratosis follicularis spinulosa decalvans, X-linked
OMIM:301014: Osteogenesis imperfecta, type XIX

transcripts
NM_015884.3

pathways
ATF6 (ATF6-alpha) activates chaperones [NCBI:1268757] [REACTOME:R-HSA-381033] [PUBMED:25821458] [PUBMED:18048764] [PUBMED:18038217] [PUBMED:18436705]
Chylomicron-mediated lipid transport [NCBI:1270006] [REACTOME:R-HSA-174800]
Lipid digestion, mobilization, and transport [NCBI:1270002] [REACTOME:R-HSA-73923]
Lipoprotein metabolism [NCBI:1270005] [REACTOME:R-HSA-174824]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Protein processing in endoplasmic reticulum [NCBI:167325] [KEGG:hsa04141] [PUBMED:20347046] [PUBMED:18023214] [PUBMED:20219571] [PUBMED:19491040] [PUBMED:20112977]
Regulation of cholesterol biosynthesis by SREBP (SREBF) [NCBI:1270038] [REACTOME:R-HSA-1655829] [PUBMED:15457548] [PUBMED:19933148] [PUBMED:18974038]
Unfolded Protein Response (UPR) [NCBI:1268756] [REACTOME:R-HSA-381119] [PUBMED:18436705] [PUBMED:18038217] [PUBMED:27067637] [PUBMED:16365312] [PUBMED:18048764] [PUBMED:15952902]