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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TGFBR2 Gene

protein-coding   GIFtS: 76
GCID: GC03P030623

transforming growth factor, beta receptor II (70/80kDa)

(Previous names: transforming growth factor, beta receptor II (70-80kD)...)
(Previous symbol: MFS2)
 Explore 179 diseases affiliated with
TGFBR2 via our new
 Human Malady Compendium 
Biological research products
for TGFBR2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transforming Growth Factor, Beta Receptor II (70/80kDa)1 2     TGFbeta-RII2
MFS21 2 5     TbetaR-II3
TGFR-22 3     TGF-Beta Receptor Type IIB2
TGF-Beta Type II Receptor2 3     TGF-Beta Receptor Type-22
EC 2.7.11.303 8     Transforming Growth Factor Beta Receptor Type IIC2
AAT32 5     Transforming Growth Factor, Beta Receptor II (70/80kDa) Isoform 12
LDS1B2 5     Transforming Growth Factor, Beta Receptor II (70/80kDa) Isoform 22
LDS2B2 5     TbetaR-II3
Transforming Growth Factor, Beta Receptor II (70-80kD)1     TGF-Beta Receptor Type II3
FAA32     Transforming Growth Factor-Beta Receptor Type II3
RIIC2     HNPCC65
TAAD22     EC 2.7.118

External Ids:    HGNC: 117731   Entrez Gene: 70482   Ensembl: ENSG000001635137   OMIM: 1901825   UniProtKB: P371733   

Export aliases for TGFBR2 gene to outside databases

Previous GC identifers: GC03M030227 GC03M029766 GC03P030497 GC03P030622


(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 TGFBR2:
This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is
a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein,
and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate
the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with
Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively
spliced transcript variants encoding different isoforms have been characterized. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173
Function: Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor,
TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2
and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and
pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell
proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and
carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound
to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2.
Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4
complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated
genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical,
SMAD-independent TGF-beta signaling pathways

Gene Wiki entry for TGFBR2 (TGF beta receptor 2)


(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_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TGFBR2 gene promoter:
         SRY   Sox5   E2F   E2F-1   MyoD   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTGFBR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TGFBR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TGFBR2


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

Entrez Gene cytogenetic band: 3p22   Ensembl cytogenetic band:  3p24.1   HGNC cytogenetic band: 3p22

TGFBR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFBR2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P030623:  view genomic region     (about GC identifiers)

Start:
30,647,994 bp from pter      End:
30,735,634 bp from pter
Size:
87,641 bases      Orientation:
plus strand

(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: TGFR2_HUMAN, P37173 (See protein sequence)
Recommended Name: TGF-beta receptor type-2 precursor  
Size: 567 amino acids; 64568 Da
Cofactor: Magnesium or manganese (By similarity)
Subunit: Homodimer. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed
of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGFRB1 and
TGFRB2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological
activities of TGFB1, TGFB2 and TGFB3. Interacts with DAXX. Interacts with TCTEX1D4. Interacts with ZFYVE9; ZFYVE9
recruits SMAD2 and SMAD3 to the TGF-beta receptor. Interacts with and is activated by SCUBE3; this interaction does
not affect TGFB1-binding to TGFBR2. Interacts with VPS39; this interaction is independent of the receptor kinase
activity and of the presence of TGF-beta
Subcellular location: Cell membrane; Single-pass type I membrane protein
5 PDB 3D structures from and Proteopedia for TGFBR2:
1KTZ (3D)        1M9Z (3D)        1PLO (3D)        2PJY (3D)        3KFD (3D)    
Secondary accessions: B4DTV5 Q15580 Q6DKT6 Q99474
Alternative splicing: 2 isoforms:  P37173-1   P37173-2   

Explore the universe of human proteins at neXtProt for TGFBR2: NX_P37173

Post-translational modifications:

  • Phosphorylated on a Ser/Thr residue in the cytoplasmic domain1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P37173

  • 4/14 DME Specific Peptides for TGFBR2 (P37173) (see all 14)
     VKNDLTC  WLITAFH  VAVKIFP  LCKFCDV 

    TGFBR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001020018.1  NP_003233.4  

    ENSEMBL proteins: 
     ENSP00000295754   ENSP00000351905  
    Reactome Protein details: P37173
    Human Recombinant Protein Products: 
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    Novus Biologicals TGFBR2 Lysate
    Sino Biological Recombinant Protein for TGFBR2
    ProSpec Recombinant Protein for TGFBR2
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane TAS--
    GO:0005901caveola IDA17878231
    GO:0009897external side of plasma membrane IDA18453574
    GO:0016021integral to membrane IDA7852346


    TGFBR2 for ontologies           About GeneDecksing



    TGFBR2 Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TGFBR2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom
     IPR015013 Transforming_GF_b_rcpt_2_ecto

    Graphical View of Domain Structure for InterPro Entry P37173

    ProtoNet protein and cluster: P37173

    1 Blocks protein family: IPB000472 Domain in TGF-beta receptor/activin receptor

    UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173
    Similarity: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily
    Similarity: Contains 1 protein kinase domain


    (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: TGFR2_HUMAN, P37173
    Function: Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor,
    TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2
    and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and
    pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell
    proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and
    carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound
    to the cytokine dimer results in the phosphorylation and the activation of TGFRB1 by the constitutively active TGFBR2.
    Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4
    complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated
    genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical,
    SMAD-independent TGF-beta signaling pathways
    Catalytic activity: ATP + [receptor-protein] = ADP + [receptor-protein] phosphate

         Genatlas biochemistry entry for TGFBR2:
    transforming growth factor beta,receptor type II,75kDa,activating MADH2 and MADH3 (see TSG3B),often altered during
    adenoma-carcinoma progression of HNPCC,also prevalently mutated in the squamous cell carcinoma of head and neck,in
    pancreatic adenocarcinomas,in hepatocellular carcinoma,and in sporadic gastric cancer,inactivated in pancreatic and
    biliary cancers and in thyroid carcinoma,major target of the EWSR1/FLI1 chimeric oncoprotein

    Enzyme Numbers (IUBMB): EC 2.7.11.301 2 EC 2.7.112

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGFBR2:
    hsa-mir-590-5p (MIRT004619), hsa-mir-92a (MIRT004737), hsa-mir-18a (MIRT004592), hsa-mir-302b (MIRT005930), hsa-mir-372 (MIRT005931), hsa-mir-19a (MIRT004593), hsa-mir-20a (MIRT001785), hsa-mir-17 (MIRT004591), hsa-mir-19b (MIRT004594), hsa-mir-204 (MIRT003272), hsa-mir-21 (MIRT001189)

    OriGene 3'-UTR Clone (see all 2): TGFBR2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBR2
    8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBR2 (see all 99):
    hsa-miR-520f hsa-miR-520e hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-1244 hsa-miR-93 hsa-miR-130b
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFBR2 (see all 7)
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    OriGene siRNA: TGFBR2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBR2

    Gene Editing
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    Clone
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    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 TGFBR2 (see all 6)
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    GenScript: all cDNA clones in your preferred vector (see all 2): TGFBR2 (NM_001024847)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR2

    Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004675transmembrane receptor protein serine/threonine kinase activity IDA12015308
    GO:0004702receptor signaling protein serine/threonine kinase activity IEA--
    GO:0005024transforming growth factor beta-activated receptor activity IMP1333888
    GO:0005026transforming growth factor beta receptor activity, type II IEA--
    GO:0005515contributes to protein binding IPI11157754


    TGFBR2 for ontologies           About GeneDecksing


    6 GenomeRNAi human phenotypes for TGFBR2:
     Decreased mitotic index  Decreased substrate adherent c  Gemcitabine induced cell-death  Increased apoptosis 
     Increased cell death HMECs cel  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for TGFBR2: Tgfbr2tm1.1Hlm Tgfbr2tm1Mmt Tgfbr2tm1Sjkm Tgfbr2tm1.1Karl
         15/21 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Tgfbr2) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system 
     homeostasis/metabolism  immune system  liver/biliary system  mortality/aging  muscle 

    TGFBR2 for phenotypes           About GeneDecksing


    (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 - 5/46 super-pathways (see all 46About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Th17 Differentiation
    Th17 Differentiation1.00
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types0.47
    2Development_CNTF receptor signaling
    Translation _Regulation of EIF4F activity0.32
    Cell adhesion Plasmin signaling0.07
    Translation Regulation activity of EIF4F0.32
    Cell adhesion_Plasmin signaling0.07
    3Apoptosis Pathway
    Apoptosis Pathway1.00
    Akt Pathway0.39
    NF-kappaB Pathway0.45
    4Development_TGF-beta receptor signaling
    Development_TGF-beta receptor signaling1.00
    Development TGF-beta receptor signaling0.96
    5Transcription_Androgen Receptor nuclear signaling
    Transcription_Androgen Receptor nuclear signaling1.00
    Transcription Androgen Receptor nuclear signaling0.99

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5 EMD Millipore Pathways for TGFBR2
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Development TGF-beta receptor signaling
    Translation Regulation activity of EIF4F
    Cell adhesion Plasmin signaling

    4 R&D Systems Pathways for TGFBR2
        IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types
    IL-21 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation
    TGF-beta Signaling Pathways

    5/16 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TGFBR2 (see all 16)
        PKA Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    TOB in T-Cell Signaling
    TGF-Beta Pathway

    1 Cell Signaling Technology (CST) Pathway for TGFBR2
        TGF-beta/Smad Signaling

    4 Tocris Bioscience Pathways for TGFBR2
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    5/6 GeneGo (Thomson Reuters) Pathways for TGFBR2 (see all 6)
        Transcription Androgen Receptor nuclear signaling
    Cell cycle Regulation of G1/S transition (part 1)
    Cell adhesion Plasmin signaling
    Cytokine production by Th17 cells in CF (Mouse model)
    Translation Regulation of EIF4F activity

    5/8 BioSystems Pathways for TGFBR2 (see all 8
        TGF Beta Signaling Pathway
    Integrated Breast Cancer Pathway
    MAPK signaling pathway
    TGF-beta Receptor Signaling Pathway
    Glypican 1 network

    5/7        Reactome Pathways for TGFBR2 (see all 7)
        Signaling by TGF-beta Receptor Complex
    TGF-beta receptor signaling activates SMADs
    Signal Transduction
    Degradation of TGF-beta receptor complex
    Disassembly of tight junctions


    5/11         Kegg Pathways  (Kegg details for TGFBR2) (see all 11):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    Endocytosis
    TGF-beta signaling pathway
    Osteoclast differentiation


    TGFBR2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGFBR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/101 Interacting proteins for TGFBR2 (P371731, 2, 3 ENSP000003519054) via UniProtKB, MINT, STRING, and/or I2D (see all 101)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SHC1P293532, 3, ENSP000004013034MINT-8030651 I2D: score=2 STRING: ENSP00000401303
    TGFB3P106002, 3, ENSP000002386824MINT-8182884 MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 MINT-8182809 I2D: score=6 STRING: ENSP00000238682
    TGFBR1P368972, 3, ENSP000003641334MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D: score=6 STRING: ENSP00000364133
    TGFB1P011371, 2, 3, ENSP000002219304EBI-296151,EBI-779636 MINT-7990932 MINT-8044787 I2D: score=5 STRING: ENSP00000221930
    DAXXQ9UER71, 3, ENSP000003968764EBI-296151,EBI-77321 I2D: score=2 STRING: ENSP00000396876 STRING: ENSP00000266000
    About this table

    Gene Ontology (GO): 5/56 biological process terms (GO ID links to tree view) (see all 56):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development TAS10092230
    GO:0001569patterning of blood vessels ISS--
    GO:0001570vasculogenesis ISS--
    GO:0001701in utero embryonic development IEA--
    GO:0002053positive regulation of mesenchymal cell proliferation ISS--


    TGFBR2 for ontologies           About GeneDecksing



    (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

    TGFBR2 for compounds           About GeneDecksing

    EMD Millipore small molecules for TGFBR2:
    Small Molecule - inhibitor
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    4 HMDB Compounds for TGFBR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    1 DrugBank Compound for TGFBR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycerol-- --target--17139284 17016423

    10/46 Novoseek chemical compound relationships for TGFBR2 gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononucleotide 85.8 44 10690536 (4), 10699890 (2), 17950544 (2), 9500552 (1) (see all 30)
    taad 84.4 15 16027248 (4), 19542084 (2), 16791849 (1), 16646045 (1) (see all 7)
    tgf beta1 76.1 36 17763417 (4), 10208456 (3), 19688145 (3), 11531253 (2) (see all 19)
    threonine 60.3 20 11212236 (2), 10789724 (2), 1310899 (1), 1525823 (1) (see all 17)
    serine 49 20 11212236 (2), 10789724 (2), 1310899 (1), 1525823 (1) (see all 17)
    crcs 39 4 17893910 (2), 10544223 (1), 20026115 (1)
    eb 1089 35.5 1 10613355 (1)
    adenylate 27.8 20 12546068 (3), 11253131 (2), 10928062 (2), 9850059 (1) (see all 9)
    polynucleotide 26.9 3 9808530 (1), 9468559 (1)
    5-aza-2'deoxycytidine 23.9 5 9632722 (1), 11507078 (1), 16163707 (1)

    Search CenterWatch for drugs/clinical trials and news about TGFBR2 / TGFR2 

    (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 TGFBR2 gene (2 alternative transcripts): 
    NM_001024847.2  NM_003242.5  

    Unigene Cluster for TGFBR2:

    Transforming growth factor, beta receptor II (70/80kDa)
    Hs.82028  [show with all ESTs]
    Unigene Representative Sequence: BX648313
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295754(uc021wut.1 uc003cen.3 uc003ceo.3) ENST00000359013


    miRNA
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    OriGene 3'-UTR Clone (see all 2): TGFBR2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBR2
    8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBR2 (see all 99):
    hsa-miR-520f hsa-miR-520e hsa-miR-106a hsa-miR-219-5p hsa-miR-519a hsa-miR-1244 hsa-miR-93 hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidTGFBR2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AJ786388.1 AK300383.1 AK304404.1 AK314102.1 BC040499.1 BX648313.1 D28131.1 M85079.1 

    9 DOTS entries:

    DT.453682  DT.100028901  DT.91829754  DT.95260870  DT.92437549  DT.120891788  DT.91981415  DT.95149729 
    DT.99993512 

    24/387 AceView cDNA sequences (see all 387):

    BQ898216 BF445838 BE463606 BI770594 CA449258 BQ008609 CA421026 BI770585 
    BU618024 BM849154 AI185412 CD244819 AI206758 AA384371 R34684 AJ786388 
    CA418314 AI755235 AI949353 AI927029 AA313197 AW172530 AI888519 AI673468 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR2    About this scheme

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


    ECgene alternative splicing isoforms for TGFBR2

    (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

    TGFBR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TGFBR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/50 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 50
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasPancreatic DuctsDuct CellsPancreas
    LiverIntrahepatic Biliary TreeBiliary Epithelial CellsLiver
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneCervical VertebraeChondrocytesBone, Cartilage
    BoneCervical VertebraeEndochondral PreosteoblastsBone
    BoneCervical VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraeChondrocytesBone, Cartilage
    BoneLumbar VertebraeEndochondral PreosteoblastsBone
    BoneLumbar VertebraeHypertrophic ChondrocytesBone, Cartilage
    BoneSacral VertebraeChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite

    See TGFBR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGFBR2

    SOURCE GeneReport for Unigene cluster: Hs.82028
        SABiosciences Expression via Pathway-Focused PCR Arrays including TGFBR2 (see all 7): 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR2

    (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 chordates.

    Orthologs for TGFBR2 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TGFBR21 transforming growth factor, beta receptor II (70/8 more 73.69(n)
    79.12(a)
      396399  NM_205428.1  NP_990759.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGFBR26
    --
    78(a)
    1 ↔ 1
    1(194655436-194688978)
    African clawed frog
    (Xenopus laevis)
    Amphibia tgfbr2-A2 transforming growth factor, beta receptor II 76.56(n)    AF213685.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tgfbr22 transforming growth factor, beta receptor II 78.39(n)   30739  AY178449.1 


    ENSEMBL Gene Tree for TGFBR2 (if available)
    TreeFam Gene Tree for TGFBR2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGFBR2 gene
    ACVR1C2  AMHR22  ACVR2A2  ACVR2B2  ACVR1B2  TGFBR12  BMPR1A2  ACVR12  
    BMPR22  ACVRL12  BMPR1B2  
    10 SIMAP similar genes for TGFBR2 using alignment to 3 protein entries:     TGFR2_HUMAN (see all proteins):
    H_YH98E06.1    ACVR2B    ACVR2A    TGFBR1    ACVR1B    ACVR1C
    BMPR1A    BMPR1B    BMPR2    ACVR1

    TGFBR2 for paralogs           About GeneDecksing



    (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

    10/1721 NCBI SNPs in TGFBR2 are shown (see all 1721    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22280471,2
    C,F,H,non-pathogenic101877113(+) ACTGCA/GAGATA 4 A syn126Minor allele frequency- C:0.00MN NA EU NS EA WA 7805
    rs11557051,2
    C,F,O,A,H,non-pathogenic101906295(+) TAAGCA/GAGCCT 2 -- int139Minor allele frequency- G:0.44MN EA NA EU NS WA CSA 5497
    rs1048938091,2
    Cpathogenic101859719(+) CAGAAC/TGCTTC 4 R C mis10--------
    rs1048938151,2
    Cpathogenic101859745(+) GGCCCG/ATCTCA 4 /H /R mis11Minor allele frequency- A:0.00NS 1116
    rs1048938101,2
    Cpathogenic101859746(+) AGGCCC/TGTCTC 4 R C mis10--------
    rs1048938191,2
    Cpathogenic101862753(+) GAGATC/TGAGGG 4 R * stg10--------
    rs1048938161,2
    Cpathogenic101877000(+) ATCTCA/GCTGTA 4 H R mis10--------
    rs1048938071,2
    Cpathogenic101877033(+) CTACTC/TCATGG 4 S F mis10--------
    rs1048938181,2
    Cpathogenic101877099(+) GGCTCC/TAGAAG 4 P L mis10--------
    rs1048938171,2
    Cpathogenic101877106(+) GATACA/GTGGCT 4 M V mis10--------

    HapMap Linkage Disequilibrium report for TGFBR2 (30647994 - 30735634 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TGFBR2
         1 Inversion: 37244
    Human Gene Mutation Database (HGMD): TGFBR2

    Locus Specific Mutation Databases (LSDB): TGFBR2

    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing TGFBR2:
    Birth Defects
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TGFBR2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TGFBR2 for disorders           About GeneDecksing

    OMIM gene information: 190182   
    OMIM disorders: 133239  610168  610380  
    UniProtKB/Swiss-Prot: TGFR2_HUMAN, P37173
  • Defects in TGFBR2 are the cause of hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:614331].
  • Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype
    (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2
    genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility.
    It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers
    of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of
    inherited colorectal cancer in the Western world, and accounts for 15% of all colon cancers. Cancers in HNPCC
    originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type
    I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon.
    Type II: patients have an increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach,
    small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam
    criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more
    generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis
    syndromes. The term "suspected HNPCC" or "incomplete HNPCC" can be used to describe families who do not or only
    partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. HNPCC6
    is a type of colorectal cancer complying with the clinical criteria of HNPCC, except that the onset of cancer was
    beyond 50 years of age in all cases
  • Defects in TGFBR2 are a cause of esophageal cancer (ESCR) [MIM:133239]
  • Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]. LDS1 is an aortic
  • aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial tortuosity and
    aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other findings include exotropy,
    micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease,
    translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree
  • Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]. An aortic aneurysm
  • syndrome with widespread systemic involvement. Physical findings include prominent joint laxity, easy bruising, wide
    and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or
    bowel, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of
    the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is
    characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in
    some patients. Note=TGFBR2 mutations Cys-460 and His-460 have been reported to be associated with thoracic aortic
    aneurysms and dissection (TAAD). This phenotype, also known as thoracic aortic aneurysms type 3 (AAT3), is
    distinguised from LDS2B by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also
    exhibit descending aortic disease and aneurysms of other arteries (PubMed:16027248), they have been considered as
    LDS2B by the OMIM resource

    20/179 diseases for TGFBR2 (see all 179):    About MalaCards
    aortic aneurysm    loeys-dietz syndrome    loeys-dietz syndrome type 2b    loeys-dietz syndrome type 1b
    marfan syndrome    spinal-bulbar muscular atrophy    colorectal cancer, hereditary nonpolyposis, type 6    multiple self healing squamous epithelioma
    marfan-like connective tissue disorder    thoracic aortic aneurysm    thoracic aortic aneurysms and aortic dissections    estrogen-receptor negative breast cancer
    estrogen-receptor positive breast cancer    familial thoracic aortic aneurysm and dissection    normal pressure hydrocephalus    sertoli cell-only syndrome
    familial adenomatous polyposis    chronic venous leg ulcers    patent ductus arteriosus    connective tissue disease

    6 diseases from the University of Copenhagen DISEASES database for TGFBR2:
    Loeys-Dietz syndrome     Carcinoma     Lynch syndrome     Colorectal cancer
    Cleft palate     Aortic aneurysm

    10/88 Novoseek disease relationships for TGFBR2 gene (see all 88)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    microsatellite instability 90.9 105 9330602 (3), 16635398 (3), 11751500 (2), 8900429 (2) (see all 69)
    marfan syndrome 72.4 40 15235604 (2), 19533785 (2), 18781618 (2), 16799921 (2) (see all 22)
    colorectal cancer 66.7 81 10690536 (5), 8978340 (4), 17270239 (4), 11159190 (2) (see all 43)
    gastric cancer 61.9 58 12324709 (5), 9230189 (4), 17562261 (4), 17187359 (4) (see all 27)
    colon cancer 61.5 51 16108056 (5), 17985359 (5), 14714614 (2), 20026115 (2) (see all 18)
    aortic aneurysm thoracic 61 10 19542084 (2), 16791849 (1), 18264665 (1), 16027248 (1) (see all 8)
    tumors 60.9 227 11405868 (7), 12825850 (5), 9721065 (3), 16380996 (3) (see all 99)
    cancer 55.2 95 9458298 (3), 9566701 (3), 11253131 (2), 8952554 (2) (see all 59)
    gastric carcinoma 49.4 27 19624886 (3), 9538129 (2), 12692838 (2), 8840981 (2) (see all 14)
    colorectal carcinoma 47.9 18 11319759 (2), 9330602 (2), 8952554 (2), 11212236 (1) (see all 8)

    GeneTests: TGFBR2
    Thoracic Aortic Aneurysms and Aortic Dissections
    Loeys-Dietz Syndrome

    Genetic Association Database (GAD): TGFBR2
    Human Genome Epidemiology (HuGE) Navigator: TGFBR2 (57 documents)

    Export disorders for TGFBR2 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)
    About This Section

    PubMed articles for TGFBR2 gene, integrated from 9 sources (see all 910):
    (articles sorted by number of sources associating them with TGFBR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Heterozygous TGFBR2 mutations in Marfan syndrome. (PubMed id 15235604)1, 2, 3, 9 Mizuguchi T....Matsumoto N. (2004)
    2. A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway. (PubMed id 12202987)1, 2, 4, 9 Watanabe Y.... Yoshiura K. (2002)
    3. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (PubMed id 16027248)1, 2, 9 Pannu H.... Milewicz D.M. (2005)
    4. A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma. (PubMed id 10789724)1, 2, 9 Tanaka S.... Sugimachi K. (2000)
    5. Loeys-Dietz syndrome type I and type II: clinical fin dings and novel mutations in two Italian patients. (PubMed id 19883511)1, 2, 9 Drera B....Colombi M. (2009)
    6. Influence of target gene mutations on survival, stage and histology in sporadic microsatellite unstable colon cancers. (PubMed id 16380996)1, 4, 9 Jung B....Carethers J.M. (2006)
    7. Progressive aortic root and pulmonary artery aneurysm s in a neonate with Loeys-Dietz syndrome type 1B. (PubMed id 20101701)1, 2, 9 Muramatsu Y....Fukushima Y. (2010)
    8. Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer. (PubMed id 11212236)1, 2, 9 Luecke C.D.... Hesketh R. (2001)
    9. Genotyping of patients with sporadic and radiation-associated meningiomas. (PubMed id 15824172)1, 4, 9 Sadetzki S....Friedman E. (2005)
    10. Polymorphisms and haplotype structures in genes for transforming growth factor beta1 and its receptors in familial and unselected breast cancers. (PubMed id 15305380)1, 4, 9 Jin Q....Forsti A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 7048 HGNC: 11773 AceView: TGFBR2 Ensembl:ENSG00000163513 euGenes: HUgn7048
    ECgene: TGFBR2 Kegg: 7048 H-InvDB: TGFBR2

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for TGFBR2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFBR2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBR2
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgfbr2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TGFBR2 gene:
    Search GeneIP for patents involving TGFBR2

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



    (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),
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    About This Section

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     SwitchGear 3'UTR luciferase reporter plasmids for TGFBR2
     SwitchGear Promoter luciferase reporter plasmids for TGFBR2
     ThermoFisher Antibodies for TGFBR2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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