MBTPS2 Gene
protein-coding GIFtS: 57
GCID: GC0XP021857
|
|
membrane-bound transcription factor peptidase, site 2(Previous names: membrane-bound transcription factor protease, site 2 )
| |
Aliases
for MBTPS2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Membrane-Bound Transcription Factor Peptidase, Site 21 2 | | EC 3.4.24.853 8 | | S2P1 2 3 5 | | IFAP2 5 | | Membrane-Bound Transcription Factor Protease, Site 21 2 | | BRESEK2 | | Endopeptidase S2P2 3 | | KFSDX2 | | Sterol Regulatory Element-Binding Proteins Intramembrane Protease2 3 | | Membrane-Bound Transcription Factor Site-2 Protease2 | | SREBPs Intramembrane Protease2 3 | | |
Export aliases for MBTPS2 gene to outside databasesPrevious GC identifers: GC0XP020460 GC0XP021059 GC0XP021219 GC0XP021617 GC0XP021767 GC0XP019598 |
Summaries
for MBTPS2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MBTPS2:
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions inthe signal protein activation involved in sterol control of transcription and the ER stress response. Mutations inthis gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAPsyndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.(provided byRefSeq, Aug 2009)
UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the firsttransmembrane 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
|
Genomic Views
for MBTPS2 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167197.1
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for MBTPS2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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-p22.11MBTPS2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for MBTPS2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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
Subcellular location: Membrane; Multi-pass membrane protein (Probable). Cytoplasm
Secondary accessions: Q9UM70 Q9UMD3Explore the universe of human proteins at neXtProt for MBTPS2: NX_O43462
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O43462
4/5 DME Specific Peptides for MBTPS2 (O43462) (see all 5)
MBTPS2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_056968.1
ENSEMBL proteins: ENSP00000368798 ENSP00000368796 Reactome Protein details: O43462
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MBTPS2 for ontologies About GeneDecksing
MBTPS2 Antibody Products:
Assay Products for MBTPS2: |
Protein
Domains /
Families
for MBTPS2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MBTPS2 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O43462ProtoNet protein and cluster: O43462 2 Blocks protein families: IPB001193 Sterol regulatory element binding protein site 2 protease (M50) signature IPB001478 PDZ/DHR/GLGF domain
UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462Similarity: Belongs to the peptidase M50A family |
Function
for MBTPS2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the firsttransmembrane 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 loopCatalytic activity: Cleaves several transcription factors that are type-2 transmembrane proteins withinmembrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2 andforms 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 forcleavage by S2P endopeptidase. Replacement of either of these residues does not prevent cleavage, but there is nocleavage if both of these residues are replacedEnzyme Number (IUBMB): EC 3.4.24.851 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBTPS2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBTPS2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MBTPS2 (NM_015884) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MBTPS2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBTPS2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTPS2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004222 | metalloendopeptidase activity |
IEA | -- | | GO:0046872 | metal ion binding |
IEA | -- |
MBTPS2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MBTPS2:
|
Pathways & Interactions
for MBTPS2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Regulation of Cholesterol Biosynthesis by SREBP (SREBF) | | | 2 | Metabolism | | | 3 | Protein processing in endoplasmic reticulum | | | 4 | Translational Control | | | 5 | Activation of Chaperone Genes by XBP1(S) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MBTPS2
1 
Cell Signaling Technology (CST) Pathway for MBTPS2
1  BioSystems Pathway for MBTPS2
5/6 
Reactome Pathways for MBTPS2 (see all 6)
1 
Kegg Pathway (Kegg details for MBTPS2):
MBTPS2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBTPS2
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
5/6 Interacting proteins for MBTPS2 (O434623 ENSP000003687984) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006508 | proteolysis |
IEA | -- | | GO:0006987 | activation of signaling protein activity involved in unfolded protein response |
TAS | -- | | GO:0008203 | cholesterol metabolic process |
IEA | -- | | GO:0030968 | endoplasmic reticulum unfolded protein response |
TAS | -- |
MBTPS2 for ontologies About GeneDecksing
|
Drugs & Compounds
for MBTPS2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MBTPS2 for compounds About GeneDecksing
 Browse Tocris compounds for MBTPS2
3 Novoseek chemical compound relationships for MBTPS2 gene About this table
Search CenterWatch for drugs/clinical trials and news about MBTPS2 / MBTP2
|
Transcripts
for MBTPS2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0158843 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000379484(uc004dae.3 uc010nfr.3) ENST00000465888 ENST00000365779(uc004dab.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBTPS2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBTPS2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MBTPS2 (NM_015884) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MBTPS2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBTPS2 |
Additional cDNA sequence: AF019612.1 AK056736.1 AK292933.1 AK307143.1 AK312474.1 BC012905.1 FJ423751.1 5 DOTS entries: DT.442859 DT.100718084 DT.121297295 DT.121297298 DT.75130452 24/125 AceView cDNA sequences (see all 125): CB959539 CA428609 Z44025 Z38312 BU623318 F05287 NM_015884 AU130756 BI963704 BX955586 BP377414 AI206515 BF448656 AA994295 BX955067 BQ774809 AA602338 AI949332 CF552440 AI015727 AW243699 Z40075 CK903672 CR624755
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
|
Expression
for MBTPS2 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MBTPS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCTTCATAG
About this image
See MBTPS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MBTPS2
SOURCE GeneReport for Unigene cluster: Hs.443490
UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462Tissue specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas
SABiosciences Expression via Pathway-Focused PCR Arrays including MBTPS2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MBTPS2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MBTPS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBTPS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBTPS2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTPS2 |
Orthologs
for MBTPS2 gene
(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)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MBTPS2 gene from 9/26 species (see all 26) About this table
ENSEMBL Gene Tree for MBTPS2 (if available)
TreeFam Gene Tree for MBTPS2 (if available) |
Paralogs
for MBTPS2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for MBTPS2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MBTPS2 (21857656 - 21903542 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MBTPS2: --
Human Gene Mutation Database (HGMD): MBTPS2
Locus Specific Mutation Databases (LSDB): MBTPS2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MBTPS2 |
|
Disorders
/ Diseases
for MBTPS2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MBTPS2 for disorders About GeneDecksing
OMIM gene information: 300294
OMIM disorders: 308205
UniProtKB/Swiss-Prot: MBTP2_HUMAN, O43462
Defects in MBTPS2 are the cause of ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205].A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia ofvarying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at theinfundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroupof patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growthand psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy Defects in MBTPS2 are a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]. Arare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, andextremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids withblepharitis and ectropion, and corneal degeneration
13  diseases for MBTPS2: About MalaCardsichthyosis follicularis atrichia photophobia syndrome keratosis follicularis spinulosa decalvans ichthyosis cholesterol
keratosis corneal degeneration ectropion blepharitis
megacolon folliculitis polyneuropathy alopecia
amyloidosis
2 diseases from the University of Copenhagen DISEASES database for MBTPS2:Alopecia Polyneuropathy Human Genome Epidemiology (HuGE) Navigator: MBTPS2 (1 document)
Export disorders for MBTPS2 gene to outside databases
|
Publications
for MBTPS2 gene (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)
About This Section
|
PubMed articles for MBTPS2 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with MBTPS2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (1997)
- 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. (2000)
- Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (PubMed id 20672378)1, 2 Aten E....den Dunnen J.T. (2010)
- 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. (2009)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- 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. (1999)
- Toward a complete human genome sequence. (PubMed id 9847074)1, 3 Wilson R. (1998)
- Ichthyosis follicularis, alopecia, and photophobia (I FAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. (PubMed id 19689518)1, 9 Ming A....Fischer G. (2009)
- 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. (2004)
- MBTPS2 mutation in a British pedigree with keratosis f ollicularis spinulosa decalvans. (PubMed id 22816986)1 Fong K....McGrath J.A. (2012)
|
External Searches for MBTPS2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MBTPS2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MBTPS2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MBTPS2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MBTPS2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for MBTPS2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MBTPS2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MBTPS2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MBTPS2 | | | OriGene Protein Over-expression Lysate for MBTPS2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MBTPS2 | | OriGene 3'-UTR Clone for MBTPS2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MBTPS2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBTPS2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MBTPS2 | | OriGene Custom Protein Services for MBTPS2 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MBTPS2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MBTPS2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBTPS2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBTPS2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBTPS2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBTPS2 |
| |
 |  |  |  | |
| | Antibodies & Assays for MBTPS2 |
| | | | Search Tocris compounds for MBTPS2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | MBTPS2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBTPS2 |
|  |  |  | | | | Search ThermoFisher Antibodies for MBTPS2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBTPS2 |
|
|
|
|
