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MBTPS2 Gene

protein-coding   GIFtS: 62
GCID: GC0XP021857

Membrane-Bound Transcription Factor Peptidase, Site 2

(Previous names: membrane-bound transcription factor protease, site 2, keratosis...)
(Previous symbol: KFSD)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane-Bound Transcription Factor Peptidase, Site 21 2     SREBPs Intramembrane Protease2 3
S2P2 3 5     EC 3.4.24.853 8
KFSD1 2     IFAP2 5
Keratosis Follicularis Spinulosa Decalvans1 2     KFSDX2 5
Membrane-Bound Transcription Factor Protease, Site 21 2     BRESEK2
Endopeptidase S2P2 3     Membrane-Bound Transcription Factor Site-2 Protease2
Sterol Regulatory Element-Binding Proteins Intramembrane Protease2 3     

External Ids:    HGNC: 154551   Entrez Gene: 513602   Ensembl: ENSG000000121747   OMIM: 3002945   UniProtKB: O434623   

Export aliases for MBTPS2 gene to outside databases

Previous GC identifers: GC0XP020460 GC0XP021059 GC0XP021219 GC0XP021617 GC0XP021767 GC0XP019598


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MBTPS2 Gene:
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions
in the signal protein activation involved in sterol control of transcription and the ER stress response.
Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP
syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress
response.(provided by RefSeq, Aug 2009)

GeneCards Summary for MBTPS2 Gene:
MBTPS2 (membrane-bound transcription factor peptidase, site 2) is a protein-coding gene. Diseases associated with MBTPS2 include ifap syndrome with or without bresheck syndrome, and keratosis follicularis spinulosa decalvans, x-linked. GO annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462
Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first
transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment
attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_167197.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MBTPS2 gene promoter:
         STAT1   AML1a   GCNF   NRSF form 1   STAT1beta   IRF-1   NRSF form 2   STAT1alpha   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBTPS2 promoter sequence
   Search Chromatin IP Primers for MBTPS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MBTPS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.12-p22.11   Ensembl cytogenetic band:  Xp22.12   HGNC cytogenetic band: Xp22.12-p22.11

MBTPS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBTPS2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP021857:  view genomic region     (about GC identifiers)

Start:
21,857,656 bp from pter      End:
21,903,542 bp from pter
Size:
45,887 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462 (See protein sequence)
Recommended Name: Membrane-bound transcription factor site-2 protease  
Size: 519 amino acids; 57444 Da
Cofactor: Binds 1 zinc ion per subunit
Secondary accessions: Q9UM70 Q9UMD3

Explore the universe of human proteins at neXtProt for MBTPS2: NX_O43462

Explore proteomics data for MBTPS2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn337
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MBTPS2 (O43462) (see all 5)
     LALLGILAL  NGLSISPFHIRWQT  DLVLKSSVYFKHSYEDWLE  LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLV 


    See MBTPS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056968.1  
    ENSEMBL proteins: 
     ENSP00000368798   ENSP00000368796  
    Reactome Protein details: O43462

    MBTPS2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR008915 Peptidase_M50
     IPR001478 PDZ
     IPR001193 MBTPS2

    Graphical View of Domain Structure for InterPro Entry O43462

    ProtoNet protein and cluster: O43462

    2 Blocks protein domains:
    IPB001193 Sterol regulatory element binding protein site 2 protease (M50) signature
    IPB001478 PDZ/DHR/GLGF domain


    UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462
    Similarity: Belongs to the peptidase M50A family


    MBTPS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBTP2_HUMAN, O43462
    Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first
    transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment
    attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop
    Catalytic activity: Cleaves several transcription factors that are type-2 transmembrane proteins within
    membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2
    and forms of the transcriptional activator ATF6. SREBP-2 is cleaved at the site 477-DRSRILL-
    -CVLTFLCLSFNPLTSLLQWGGA-505. The residues Asn-Pro, 11 residues distal to the site of cleavage in the
    membrane-spanning domain, are important for cleavage by S2P endopeptidase. Replacement of either of these
    residues does not prevent cleavage, but there is no cleavage if both of these residues are replaced

         Enzyme Number (IUBMB): EC 3.4.24.851 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    MBTPS2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MBTPS2:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MBTPS2
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    miRNA
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    miRTarBase miRNAs that target MBTPS2:
    hsa-mir-1226-3p (MIRT036430)

    Block miRNA regulation of human, mouse, rat MBTPS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MBTPS2 (see all 62):
    hsa-miR-3678-3p hsa-miR-429 hsa-let-7d hsa-miR-4272 hsa-miR-200a hsa-miR-30d hsa-miR-105 hsa-miR-141
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MBTP2_HUMAN, O43462: Membrane; Multi-pass membrane protein (Probable). Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus4
    plasma membrane3
    cytoskeleton2
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005737cytoplasm IDA19361614
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    MBTPS2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MBTPS2 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperones by ATF6-alpha0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Chks in Checkpoint Regulation
    SREBP Proteolysis0.43
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for MBTPS2
        SREBP Proteolysis

    1 Cell Signaling Technology (CST) Pathway for MBTPS2
        Translational Control

    1 BioSystems Pathway for MBTPS2
        SREBP signalling

    2 Reactome Pathways for MBTPS2
        ATF6-alpha activates chaperones
    Regulation of cholesterol biosynthesis by SREBP (SREBF)


    1 Kegg Pathway  (Kegg details for MBTPS2):
        Protein processing in endoplasmic reticulum


    MBTPS2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBTPS2: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MBTPS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for MBTPS2 (O434623 ENSP000003687984) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF6BQ999413, ENSP000003643494I2D: score=1 STRING: ENSP00000364349
    ENSG00000168468Q999413I2D: score=1 
    ENSG00000228628Q999413I2D: score=1 
    ENSG00000234539Q999413I2D: score=1 
    JUNP054123I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0008203cholesterol metabolic process IEA--
    GO:0030968endoplasmic reticulum unfolded protein response TAS--
    GO:0044267cellular protein metabolic process TAS--

    MBTPS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MBTPS2 (MBTP2)

    3 Novoseek inferred chemical compound relationships for MBTPS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 66.4 1 11750129 (1)
    zinc 45.2 3 19689518 (1), 11750129 (1), 12183368 (1)
    cholesterol 9.58 1 19689518 (1)



    MBTPS2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MBTPS2 gene: 
    NM_015884.3  

    Unigene Cluster for MBTPS2:

    Membrane-bound transcription factor peptidase, site 2
    Hs.443490  [show with all ESTs]
    Unigene Representative Sequence: NM_015884
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465888 ENST00000379484(uc004dae.3 uc010nfr.3) ENST00000365779(uc004dab.2)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate MBTPS2 (see all 62):
    hsa-miR-3678-3p hsa-miR-429 hsa-let-7d hsa-miR-4272 hsa-miR-200a hsa-miR-30d hsa-miR-105 hsa-miR-141
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    Additional mRNA sequence: 

    AF019612.1 AK056736.1 AK292933.1 AK307143.1 AK312474.1 BC012905.1 FJ423751.1 

    6 DOTS entries:

    DT.442859  DT.100718084  DT.121297295  DT.121297298  DT.75130452  DT.91699869 

    Selected AceView cDNA sequences (see all 125):

    AA994295 CA428609 AW243699 BF448656 BQ774809 BU623318 CF552440 BX955067 
    AI015727 Z38312 F05287 CR624755 AI206515 AK056736 AI949332 AW664144 
    BX955586 BP377414 AU130756 Z44025 CK903672 CB959539 AF019612 BC012905 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MBTPS2    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:        -                                                                                 
    SP5:                                                                                          


    ECgene alternative splicing isoforms for MBTPS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MBTPS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTCATAG
    MBTPS2 Expression
    About this image


    MBTPS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MBTPS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MBTPS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443490

    UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462
    Tissue specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MBTPS2: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTPS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MBTPS2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbtps21 , 5 membrane-bound transcription factor peptidase, site more1, 5 92.23(n)1
    97.48(a)1
      X (72.55 cM)5
    2706691  NM_172307.31  NP_758511.11 
     1575353715 
    chicken
    (Gallus gallus)
    Aves MBTPS21 membrane-bound transcription factor peptidase, site more 73.48(n)
    70.65(a)
      427996  XM_425566.4  XP_425566.3 
    lizard
    (Anolis carolinensis)
    Reptilia MBTPS26
    membrane-bound transcription factor peptidase, sit...
    71(a)
    1 ↔ 1
    3(124563799-124602082)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.201222 Transcribed sequence with weak similarity to protein more 73.86(n)    BX760669.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mbtps21 membrane-bound transcription factor protease, site more 63.43(n)
    63.36(a)
      334658  NM_001025461.1  NP_001020632.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta S2P1 , 3 metalloendopeptidase3
    site-2 protease1
    29(a)3
    44.94(n)1
    32.05(a)1
      48C53
    362621  NM_136861.31  NP_610705.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y56A3A.21 Y56A3A.2 45.75(n)
    36.69(a)
      176616  NM_067136.5  NP_499537.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G203101 AT4G20310 42.68(n)
    28.57(a)
      827778  NM_001160783.1  NP_001154255.1 


    ENSEMBL Gene Tree for MBTPS2 (if available)
    TreeFam Gene Tree for MBTPS2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MBTPS2 (see all 656)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0630574
    IFAP syndrome with or without BRESHECK syndrome (IFAPS)4--see VAR_0630572 R H mis40--------
    VAR_0630544
    IFAP syndrome with or without BRESHECK syndrome (IFAPS)4--see VAR_0630542 M I mis40--------
    VAR_0630584
    IFAP syndrome with or without BRESHECK syndrome (IFAPS)4--see VAR_0630582 F S mis40--------
    VAR_0630564
    IFAP syndrome with or without BRESHECK syndrome (IFAPS)4--see VAR_0630562 H L mis40--------
    VAR_0644094
    Keratosis follicularis spinulosa decalvans X-linked (KFSDX)4--see VAR_0644092 N S mis40--------
    VAR_0630554
    IFAP syndrome with or without BRESHECK syndrome (IFAPS)4--see VAR_0630552 W L mis40--------
    rs20147631,2
    C,F--21769888(+) AAGCCG/AGCAGA 1 -- us2k15Minor allele frequency- A:0.03NA EA 256
    rs70584741,2
    C,A--21769890(+) GCCGGC/GAGATC 1 -- us2k1 tfbs30--------
    rs70592411,2
    C,F,A,H--21770071(+) AGATCG/ATCCGA 1 -- us2k13Minor allele frequency- A:0.29WA NA CSA 7
    rs1854639931,2
    --21770112(+) ACTACA/GTCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MBTPS2 (21857656 - 21903542 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MBTPS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740003CNV Deletion23290073

    Human Gene Mutation Database (HGMD): MBTPS2
    Locus Specific Mutation Databases (LSDB): MBTPS2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MBTPS2
    DNA2.0 Custom Variant and Variant Library Synthesis for MBTPS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300294   
    OMIM disorders: 308205  308800  
    UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462
  • IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]: A syndrome characterized by a
    peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree.
    Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum.
    Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of
    patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth
    and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]: A rare disorder affecting the
    skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the
    palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion,
    and corneal degeneration. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for MBTPS2:    
    About MalaCards
    ifap syndrome with or without bresheck syndrome    keratosis follicularis spinulosa decalvans, x-linked    ichthyosis follicularis atrichia photophobia syndrome    blepharitis
    corneal degeneration    olmsted syndrome    keratosis follicularis    keratosis follicularis spinulosa decalvans
    ectropion    folliculitis    keratosis    megacolon
    polyneuropathy    amyloidosis    alopecia    malaria
    multiple myeloma    myeloma

    3 diseases from the University of Copenhagen DISEASES database for MBTPS2:
    Polyneuropathy     Alopecia     Keratosis follicularis

    MBTPS2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MBTPS2
    Human Genome Epidemiology (HuGE) Navigator: MBTPS2 (1 document)

    Export disorders for MBTPS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MBTPS2 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with MBTPS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (PubMed id 20672378)1, 2, 3 Aten E....den Dunnen J.T. (Hum. Mutat. 2010)
    2. Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. (PubMed id 9659902)1, 2, 3 Rawson R.B.... Goldstein J.L. (Mol. Cell 1997)
    3. Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease. (PubMed id 10805775)1, 2, 9 Ye J.... Brown M.S. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    4. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. (PubMed id 19361614)1, 2 Oeffner F.... Grzeschik K.H. (Am. J. Hum. Genet. 2009)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    7. Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins. (PubMed id 10419520)1, 2 Zelenski N.G.... Goldstein J.L. (J. Biol. Chem. 1999)
    8. Toward a complete human genome sequence. (PubMed id 9847074)1, 3 Sulston J.E. and Waterston R. (Genome Res. 1998)
    9. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. (PubMed id 19689518)1, 9 Ming A....Fischer G. (Pediatr Dermatol 2009)
    10. Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6. (PubMed id 15299016)1, 9 Shen J. and Prywes R. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51360 HGNC: 15455 AceView: MBTPS2 Ensembl:ENSG00000012174 euGenes: HUgn51360
    ECgene: MBTPS2 Kegg: 51360 H-InvDB: MBTPS2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MBTPS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MBTPS2 gene:
    Search GeneIP for patents involving MBTPS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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