Property Summary

NCBI Gene PubMed Count 23
Grant Count 33
R01 Count 18
Funding $4,497,126.87
PubMed Score 81.22
PubTator Score 79.37

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
osteosarcoma 1.632 0.000
atypical teratoid / rhabdoid tumor 1.400 0.000
glioblastoma 1.400 0.001
group 4 medulloblastoma 1.500 0.001
medulloblastoma, large-cell 1.900 0.000
pancreatic ductal adenocarcinoma liver m... -1.765 0.007
lung cancer 1.100 0.006
nasopharyngeal carcinoma 1.100 0.000
lung carcinoma 1.100 0.000
ovarian cancer -2.100 0.000
Gaucher disease type 1 -1.200 0.009

Gene RIF (13)

PMID Text
23571157 S2P is essential owing to its activation of the sterol regulatory element binding proteins (SREBPs); in the absence of exogenous lipid, cells lacking S2P cannot survive. (Review)
23316014 In male patients, a genotype-phenotype correlation has begun to emerge, linking the site of the mutation in MBTPS2 with the clinical outcome described as IFAP syndrome.
22931912 We demonstrate a novel association between an MBTPS2 mutation and an X-linked form of Olmsted syndrome.
22816986 We report a fourth pedigree affected with Keratosis Follicularis Spinulosa Decalvans resulting from a recurrent missense mutation in the MBTPS2 gene.
21426410 Both intronic MBTPS2 c.671-9T>G and c.225-6T>A point mutations are ichthyosis follicularis, alopecia and photophobia syndrome causing mutations.
21315478 We confirm that MBTPS2 mutations cause ichthyosis follicularis atricia and photophobia syndrome in patients of Chinese origin
20854407 Chinese family with a mild IFAP phenotype and a novel mutation in the MBTPS2 gene
20672378 Missense mutations in the MBTPS2 gene have been identified as the cause of Follicularis Spinulosa Decalvans (KFSD).
19689518 study presents the largest kindred of ichthyosis follicularis, alopecia and photophobia (IFAP) reported to date clearly demonstrating X-linked inheritance; missense mutations of the gene, MBTPS2 are associated with the IFAP phenotype in this kindred
19361614 assign the IFAP syndrome locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype
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AA Sequence

MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHIRWQTAVFNRAFYSWGRRKAR      1 - 70
MLYQWFNFGMVFGVIAMFSSFFLLGKTLMQTLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNE     71 - 140
QVLQVVVPGINLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGAFVDLFTTHLQ    141 - 210
LISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLVT    211 - 280
HLQDCPVTNVQDWNECLDTIAYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNN    281 - 350
FNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYVGHPLHLHYT    351 - 420
VSITSFIPRFNFLSIDLPVVVETFVKYLISLSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVK    421 - 490
DLIGFFILLGGSVLLAANVTLGLWMVTAR                                             491 - 519
//

Text Mined References (23)

PMID Year Title
23571157 2013 The site-2 protease.
23316014 2013 Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
22934019 2012 The endoplasmic reticulum stress response in aging and age-related diseases.
22931912 2013 A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
22816986 2012 MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
21426410 2011 Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.
21315478 2011 A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.
20854407 2010 A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family.
20672378 2010 Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
19689518 Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.
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