MBTPS2 (membrane bound transcription factor peptidase, site 2)

2014-07-01  

Identity

HGNC
MBTPS2
LOCATION
Xp22.12
LOCUSID
51360
ALIAS
BRESEK,IFAP,KFSD,KFSDX,OI19,OLMSX,S2P
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
337437322021MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.8
337437322021MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.8
299519982019Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.2
302948112019Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.1
305893672019Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation.0
299519982019Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.2
302948112019Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.1
305893672019Retinal venous tortuosity in a woman hemizygous for MBTPS2 mutation.0
287179302017Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.5
287179302017Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3.5
273808942016MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.58
273808942016MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.58
229319122013A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.16
233160142013Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.14
235711572013The site-2 protease.26

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)