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MBTPS2 (membrane bound transcription factor peptidase, site 2)

Identity

Alias_namesKFSD
membrane-bound transcription factor protease, site 2
keratosis follicularis spinulosa decalvans
Alias_symbol (synonym)S2P
Other aliasBRESEK
IFAP
KFSDX
OLMSX
HGNC (Hugo) MBTPS2
LocusID (NCBI) 51360
Atlas_Id 54057
Location Xp22.12  [Link to chromosome band Xp22]
Location_base_pair Starts at 21857656 and ends at 21903541 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MBTPS2 (Xp22.12) / CNKSR2 (Xp22.12)MBTPS2 (Xp22.12) / EDEM2 (20q11.22)MBTPS2 (Xp22.12) / MLLT4 (6q27)
MBTPS2 (Xp22.12) / YY2 (Xp22.12)MBTPS2 Xp22.12 / CNKSR2 Xp22.12MBTPS2 Xp22.12 / EDEM2 20q11.22

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Prostate tumors: an overview


External links

Nomenclature
HGNC (Hugo)MBTPS2   15455
Cards
Entrez_Gene (NCBI)MBTPS2  51360  membrane bound transcription factor peptidase, site 2
AliasesBRESEK; IFAP; KFSD; KFSDX; 
OLMSX; S2P
GeneCards (Weizmann)MBTPS2
Ensembl hg19 (Hinxton)ENSG00000012174 [Gene_View]  chrX:21857656-21903541 [Contig_View]  MBTPS2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000012174 [Gene_View]  chrX:21857656-21903541 [Contig_View]  MBTPS2 [Vega]
ICGC DataPortalENSG00000012174
TCGA cBioPortalMBTPS2
AceView (NCBI)MBTPS2
Genatlas (Paris)MBTPS2
WikiGenes51360
SOURCE (Princeton)MBTPS2
Genetics Home Reference (NIH)MBTPS2
Genomic and cartography
GoldenPath hg19 (UCSC)MBTPS2  -     chrX:21857656-21903541 +  Xp22.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MBTPS2  -     Xp22.12   [Description]    (hg38-Dec_2013)
EnsemblMBTPS2 - Xp22.12 [CytoView hg19]  MBTPS2 - Xp22.12 [CytoView hg38]
Mapping of homologs : NCBIMBTPS2 [Mapview hg19]  MBTPS2 [Mapview hg38]
OMIM300294   300918   308205   308800   
Gene and transcription
Genbank (Entrez)AF019612 AK056736 AK292933 AK307143 AK312474
RefSeq transcript (Entrez)NM_015884
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012797 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)MBTPS2
Cluster EST : UnigeneHs.443490 [ NCBI ]
CGAP (NCI)Hs.443490
Alternative Splicing GalleryENSG00000012174
Gene ExpressionMBTPS2 [ NCBI-GEO ]   MBTPS2 [ EBI - ARRAY_EXPRESS ]   MBTPS2 [ SEEK ]   MBTPS2 [ MEM ]
Gene Expression Viewer (FireBrowse)MBTPS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51360
GTEX Portal (Tissue expression)MBTPS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43462   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43462  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43462
Splice isoforms : SwissVarO43462
Catalytic activity : Enzyme3.4.24.85 [ Enzyme-Expasy ]   3.4.24.853.4.24.85 [ IntEnz-EBI ]   3.4.24.85 [ BRENDA ]   3.4.24.85 [ KEGG ]   
PhosPhoSitePlusO43462
Domaine pattern : Prosite (Expaxy)ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)MBTPS2    PDZ    Peptidase_M50   
Domain families : Pfam (Sanger)Peptidase_M50 (PF02163)   
Domain families : Pfam (NCBI)pfam02163   
Conserved Domain (NCBI)MBTPS2
DMDM Disease mutations51360
Blocks (Seattle)MBTPS2
SuperfamilyO43462
Human Protein AtlasENSG00000012174
Peptide AtlasO43462
HPRD02243
IPIIPI00328263   IPI00642939   
Protein Interaction databases
DIP (DOE-UCLA)O43462
IntAct (EBI)O43462
FunCoupENSG00000012174
BioGRIDMBTPS2
STRING (EMBL)MBTPS2
ZODIACMBTPS2
Ontologies - Pathways
QuickGOO43462
Ontology : AmiGOGolgi membrane  metalloendopeptidase activity  cytoplasm  cholesterol metabolic process  metallopeptidase activity  integral component of membrane  membrane protein intracellular domain proteolysis  response to endoplasmic reticulum stress  ATF6-mediated unfolded protein response  metal ion binding  positive regulation of sequence-specific DNA binding transcription factor activity  positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  
Ontology : EGO-EBIGolgi membrane  metalloendopeptidase activity  cytoplasm  cholesterol metabolic process  metallopeptidase activity  integral component of membrane  membrane protein intracellular domain proteolysis  response to endoplasmic reticulum stress  ATF6-mediated unfolded protein response  metal ion binding  positive regulation of sequence-specific DNA binding transcription factor activity  positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress  
Pathways : BIOCARTASREBP control of lipid synthesis [Genes]   
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkMBTPS2
Atlas of Cancer Signalling NetworkMBTPS2
Wikipedia pathwaysMBTPS2
Orthology - Evolution
OrthoDB51360
GeneTree (enSembl)ENSG00000012174
Phylogenetic Trees/Animal Genes : TreeFamMBTPS2
HOVERGENO43462
HOGENOMO43462
Homologs : HomoloGeneMBTPS2
Homology/Alignments : Family Browser (UCSC)MBTPS2
Gene fusions - Rearrangements
Fusion : MitelmanMBTPS2/CNKSR2 [Xp22.12/Xp22.12]  
Fusion : MitelmanMBTPS2/EDEM2 [Xp22.12/20q11.22]  [t(X;20)(p22;q11)]  
Fusion : MitelmanMBTPS2/YY2 [Xp22.12/Xp22.12]  [t(X;X)(p22;p22)]  
Fusion: TCGAMBTPS2 Xp22.12 CNKSR2 Xp22.12 BRCA
Fusion: TCGAMBTPS2 Xp22.12 EDEM2 20q11.22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMBTPS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MBTPS2
dbVarMBTPS2
ClinVarMBTPS2
1000_GenomesMBTPS2 
Exome Variant ServerMBTPS2
ExAC (Exome Aggregation Consortium)MBTPS2 (select the gene name)
Genetic variants : HAPMAP51360
Genomic Variants (DGV)MBTPS2 [DGVbeta]
DECIPHER (Syndromes)X:21857656-21903541  ENSG00000012174
CONAN: Copy Number AnalysisMBTPS2 
Mutations
ICGC Data PortalMBTPS2 
TCGA Data PortalMBTPS2 
Broad Tumor PortalMBTPS2
OASIS PortalMBTPS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMBTPS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMBTPS2
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MBTPS2
DgiDB (Drug Gene Interaction Database)MBTPS2
DoCM (Curated mutations)MBTPS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MBTPS2 (select a term)
intoGenMBTPS2
Cancer3DMBTPS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300294    300918    308205    308800   
Orphanet2192    2142    8652    11674   
MedgenMBTPS2
Genetic Testing Registry MBTPS2
NextProtO43462 [Medical]
TSGene51360
GENETestsMBTPS2
Huge Navigator MBTPS2 [HugePedia]
snp3D : Map Gene to Disease51360
BioCentury BCIQMBTPS2
ClinGenMBTPS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51360
Chemical/Pharm GKB GenePA30672
Clinical trialMBTPS2
Miscellaneous
canSAR (ICR)MBTPS2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMBTPS2
EVEXMBTPS2
GoPubMedMBTPS2
iHOPMBTPS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:14:43 CET 2017

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