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TGFBR3 Gene

protein-coding   GIFtS: 68
GCID: GC01M092145

Transforming Growth Factor, Beta Receptor III

(Previous names: transforming growth factor, beta receptor III (betaglycan,...)
  See TGFBR3-related diseases
at  

(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
Transforming Growth Factor, Beta Receptor III1 2     BGCAN2
Betaglycan Proteoglycan1 2     betaglycan2
TGFR-32 3     Transforming Growth Factor Beta Receptor Type 32
TGF-Beta Receptor Type 32 3     Betaglycan3
TGF-Beta Receptor Type III2 3     Transforming Growth Factor Beta Receptor III3
Transforming Growth Factor, Beta Receptor III (Betaglycan, 300kDa)1     

External Ids:    HGNC: 117741   Entrez Gene: 70492   Ensembl: ENSG000000697027   OMIM: 6007425   UniProtKB: Q031673   

Export aliases for TGFBR3 gene to outside databases

Previous GC identifers: GC01M092604 GC01M091345 GC01M091485 GC01M091619 GC01M091860 GC01M090263


(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 TGFBR3 Gene:
This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane
proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain
shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has
been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been
identified for this gene.(provided by RefSeq, Sep 2010)

GeneCards Summary for TGFBR3 Gene:
TGFBR3 (transforming growth factor, beta receptor III) is a protein-coding gene. Diseases associated with TGFBR3 include familial cerebral saccular aneurysm, and priapism. GO annotations related to this gene include heparin binding and SMAD binding. An important paralog of this gene is TGFBR3L.

UniProtKB/Swiss-Prot: TGBR3_HUMAN, Q03167
Function: Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the
signaling receptors

Gene Wiki entry for TGFBR3 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGFBR3 gene promoter:
         Max1   Sp1   Pax-2   MyoD   Pax-2a   Pax-2b   Sox9   GCNF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTGFBR3 promoter sequence
   Search Chromatin IP Primers for TGFBR3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGFBR3


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

Entrez Gene cytogenetic band: 1p33-p32   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p33-p32

TGFBR3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFBR3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M092145:  view genomic region     (about GC identifiers)

Start:
92,145,900 bp from pter      End:
92,371,892 bp from pter
Size:
225,993 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TGFBR3

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TGBR3_HUMAN, Q03167 (See protein sequence)
Recommended Name: Transforming growth factor beta receptor type 3 precursor  
Size: 851 amino acids; 93499 Da
Subunit: Interacts with TCTEX1D4
Sequence caution: Sequence=AAA67061.1; Type=Frameshift; Positions=70, 73, 349, 350;
Secondary accessions: A0AUW8 A8K5N0 B9EG88 Q5T2T4 Q5U731 Q9UGI2
Alternative splicing: 2 isoforms:  Q03167-1   Q03167-2   

Explore the universe of human proteins at neXtProt for TGFBR3: NX_Q03167

Explore proteomics data for TGFBR3 at MOPED

Post-translational modifications: 

  • Extensively modified by glycosaminoglycan groups (GAG)1
  • Glycosylation2 at Asn141, Thr369, Asn492, Ser534, Ser545, Asn571, Asn590, Asn697
  • Modification sites at PhosphoSitePlus

  • See TGFBR3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001182612.1  NP_001182613.1  NP_003234.2  

    ENSEMBL proteins: 
     ENSP00000433477   ENSP00000359426   ENSP00000436127   ENSP00000434994   ENSP00000432638  
     ENSP00000395975   ENSP00000212355  

    TGFBR3 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for TGFBR3
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    Novus Biologicals TGFBR3 Lysate
    Sino Biological Recombinant Protein for TGFBR3
    Sino Biological Cell Lysate for TGFBR3
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for TGFBR3 

    TGFBR3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for TGFBR3 (TGF-beta RIII)
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    Search eBioscience for ELISAs for TGFBR3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CSPG: Proteoglycans / Cell surface : Other

    IUPHAR Guide to PHARMACOLOGY protein family classification: transforming growth factor, beta receptor III
    Type II receptor serine/threonine kinases
    Type II subfamily

    2 InterPro protein domains:
     IPR017977 ZP_dom_CS
     IPR001507 ZP_dom

    Graphical View of Domain Structure for InterPro Entry Q03167

    ProtoNet protein and cluster: Q03167

    UniProtKB/Swiss-Prot: TGBR3_HUMAN, Q03167
    Similarity: Contains 1 ZP domain


    Find genes that share domains with TGFBR3           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGBR3_HUMAN, Q03167
    Function: Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the
    signaling receptors

         Genatlas biochemistry entry for TGFBR3:
    transforming growth factor beta,receptor type III

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005024transforming growth factor beta-activated receptor activity IDA12958365
    GO:0005114type II transforming growth factor beta receptor binding IDA11157754
    GO:0005160transforming growth factor beta receptor binding ISS1333192
    GO:0005515contributes to protein binding IPI10746731
    GO:0005539glycosaminoglycan binding TAS1333192
         
    Find genes that share ontologies with TGFBR3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TGFBR3:
     Decreased viability with carbo  Increased G2M DNA content, inc  Increased number of mitotic ce 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tgfbr3):
     cardiovascular system  cellular  hematopoietic system  immune system  limbs/digits/tail 
     liver/biliary system  mortality/aging  muscle  reproductive system  skeleton 

    Find genes that share phenotypes with TGFBR3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TGFBR3: Tgfbr3tm1Stv Tgfbr3tm1.1Jba

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGFBR3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGFBR3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGFBR3

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGFBR3:
    hsa-mir-101-3p (MIRT027244), hsa-mir-181a-5p (MIRT025118), hsa-mir-193b-3p (MIRT016418), hsa-mir-21-5p (MIRT005330)

    Block miRNA regulation of human, mouse, rat TGFBR3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGFBR3 (see all 98):
    hsa-miR-124* hsa-miR-193a-3p hsa-miR-15a hsa-miR-128 hsa-miR-502-3p hsa-miR-3148 hsa-miR-376c hsa-miR-193b
    SwitchGear 3'UTR luciferase reporter plasmidTGFBR3 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat TGFBR3

    Gene Editing
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    Sino Biological Human cDNA Clone for TGFBR3
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBR3
    Addgene plasmids for TGFBR3 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBR3


    (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
    TGBR3_HUMAN, Q03167: Secreted. Secreted, extracellular space. Cell membrane; Single-pass type I membrane protein
    (Potential). Note=Exists both as a membrane-bound form and as soluble form in serum and in the extracellular
    matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytosol2
    endoplasmic reticulum2
    golgi apparatus1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space TAS18184661
    GO:0005737cytoplasm ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0005887integral component of plasma membrane ISS--

    Find genes that share ontologies with TGFBR3           About GenesLikeMe


    (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 TGFBR3 About   (see all 25)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    PPAR Pathway0.66
    Cellular Apoptosis Pathway0.85
    Rac1 Pathway0.65
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2PAK Pathway
    PAK Pathway0.56
    Epithelial Adherens Junctions0.36
    Antioxidant Action of Vitamin-C0.56
    3Apoptosis Pathway
    Apoptosis Pathway0.45
    Akt Pathway0.39
    NF-kappaB Pathway0.45
    4CREB Pathway
    CREB Pathway0.68
    Activation of PKC through GPCR0.63
    5p70S6K Signaling
    p70S6K Signaling0.60
    Renin-Angiotensin Pathway0.60


    Find genes that share SuperPaths with TGFBR3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 R&D Systems Pathways for TGFBR3
        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
    TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TGFBR3 (see all 29)
        MAPK Signaling
    Nuclear Receptor Activation by Vitamin-A
    DHA Signaling
    Sertoli-Sertoli Cell Junction Dynamics
    Actin-Based Motility by Rho Family GTPases

    2 Cell Signaling Technology (CST) Pathways for TGFBR3
        Angiogenesis
    TGF-beta/Smad Signaling

    4 Tocris Bioscience Pathways for TGFBR3
        Akt Pathway
    Apoptosis Pathway
    TGF-beta Pathway
    NF-kappaB Pathway

    2 GeneGo (Thomson Reuters) Pathways for TGFBR3
        Signal transduction Activin A signaling regulation
    Cell adhesion Plasmin signaling

    3 BioSystems Pathways for TGFBR3
        TGF Beta Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    TGF-beta receptor signaling

    1 Sino Biological Pathway for TGFBR3
        TGF-beta Signaling Pathway


        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFBR3: 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Wound Healing in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGFBR3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for TGFBR3 (Q031671, 2, 3 ENSP000002123554) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GIPC1O149081, 2, 3, ENSP000003406984EBI-2852679,EBI-373132 MINT-1785662 MINT-1785690 MINT-1785632 I2D: score=2 STRING: ENSP00000340698
    TGFB1P011371, 3, ENSP000002219304EBI-2852679,EBI-779636 I2D: score=3 STRING: ENSP00000221930
    TGFB3P106002, 3, ENSP000002386824MINT-8182955 I2D: score=2 STRING: ENSP00000238682
    TGFBR2P371733, ENSP000003519054I2D: score=2 STRING: ENSP00000351905
    TCTEX1D4Q5JR983, ENSP000003418034I2D: score=1 STRING: ENSP00000341803
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0001666response to hypoxia IEA--
    GO:0001701in utero embryonic development ----
    GO:0001824blastocyst development IEA--
    GO:0001837epithelial to mesenchymal transition IDA18184661

    Find genes that share ontologies with TGFBR3           About GenesLikeMe



    (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 TGFBR3 (TGBR3)

    3 Novoseek inferred chemical compound relationships for TGFBR3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycosaminoglycan 37.3 2 2021626 (1)
    threonine 28.6 1 9808055 (1)
    tyrosine 0 2 12011974 (1), 11836631 (1)

    1 PharmGKB related drug/compound annotation for TGFBR3 gene    About this table
    Drug/compound PharmGKB Annotation
    antidepressantsCA  



    Find genes that share compounds with TGFBR3           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TGFBR3 gene (3 alternative transcripts): 
    NM_001195683.1  NM_001195684.1  NM_003243.4  

    Unigene Cluster for TGFBR3:

    Transforming growth factor, beta receptor III
    Hs.482390  [show with all ESTs]
    Unigene Representative Sequence: NR_036634
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533089(uc009wde.3) ENST00000370399 ENST00000525962 ENST00000532540
    ENST00000465892 ENST00000470600 ENST00000529608 ENST00000468996 ENST00000417833
    ENST00000533370 ENST00000212355(uc010osy.2 uc001doh.3 uc001doi.3 uc001doj.3)

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    Selected qRT-PCR Assays for microRNAs that regulate TGFBR3 (see all 98):
    hsa-miR-124* hsa-miR-193a-3p hsa-miR-15a hsa-miR-128 hsa-miR-502-3p hsa-miR-3148 hsa-miR-376c hsa-miR-193b
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TGFBR3
      QuantiFast Probe-based Assays in human, mouse, rat TGFBR3

    Additional mRNA sequence: 

    AJ251961.1 AK225799.1 AK291345.1 BC099914.1 BC126116.1 BC136295.1 BC143869.1 NR_036634.1 

    7 DOTS entries:

    DT.215242  DT.121440729  DT.95205359  DT.95280403  DT.101967980  DT.95206272  DT.121440802 

    Selected AceView cDNA sequences (see all 189):

    CD671105 BE218208 BM728363 R51478 AL119877 F09712 CB156260 BQ694835 
    BU631893 AA886268 AI241155 AI184420 BG622117 H83716 F12072 BI492212 
    AI433350 AW193698 CA413877 CD678597 AI204684 CB156250 AI698012 BE645258 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBR3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:              -                       -                                                                           
    SP2:              -                       -                                                                           
    SP3:                                      -                                                                           
    SP4:              -                                                                                                   
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for TGFBR3

    (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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    TGFBR3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACTGACAG
    TGFBR3 Expression
    About this image


    TGFBR3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Medulla Oblongata
             Midbrain dopaminergic-like neurons
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Heart (Cardiovascular System)
             Endocardial Cells Endocardium
    TGFBR3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGFBR3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.482390
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFBR3: 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Wound Healing in human mouse rat
              Stem Cell Signaling in human mouse rat

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    (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 chordates.

    Orthologs for TGFBR3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfbr31 , 5 transforming growth factor, beta receptor III1, 5 84.2(n)1
    82.15(a)1
      5 (51.90 cM)5
    218141  NM_011578.31  NP_035708.21 
     1071065705 
    chicken
    (Gallus gallus)
    Aves TGFBR31 transforming growth factor, beta receptor III 70.01(n)
    69.08(a)
      374251  NM_204339.1  NP_989670.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGFBR36
    transforming growth factor, beta receptor III
    65(a)
    1 ↔ 1
    4(94142008-94336924)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tgfbr31 transforming growth factor, beta receptor III 63.5(n)
    60.77(a)
      100492271  XM_002933806.2  XP_002933852.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tgfbr31 transforming growth factor, beta receptor III 57.21(n)
    51.09(a)
      100332594  XM_002662431.3  XP_002662477.3 


    ENSEMBL Gene Tree for TGFBR3 (if available)
    TreeFam Gene Tree for TGFBR3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TGFBR3 gene
    TGFBR3L2  ENG2  
    Selected SIMAP similar genes for TGFBR3 using alignment to 4 protein entries:     TGBR3_HUMAN (see all proteins) (see all similar genes):
    BUB1B    C12orf23    FAM3A    WDR6    GALK2    MTX2
    LRTOMT    ZNF23    CES4A    FANCA    C19orf47    ECD
    IFT122    ZNF415    CNOT2    TMEM67    COX7A2    NSD1

    Find genes that share paralogs with TGFBR3           About GenesLikeMe



    (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 TGFBR3 (see all 4860)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939208271,2
    Cuntested192171354(-) CAGCAC/TGCAGA 7 T M mis10--------
    rs178855811,2
    C,F--90282031(-) TTTTTG/CTAAGT 4 -- int14Minor allele frequency- C:0.12NS NA 176
    rs710879651,2
    C--90287929(-) TTTTT-/TTTTTT 4 -- int11Minor allele frequency- T:0.00NA 2
    rs125686111,2
    C,H--90287930(+) aaaaaG/Aaaaga 4 -- int1 trp31Minor allele frequency- A:0.50CSA 2
    rs178820961,2
    F--90295713(-) GAAATAT/-TAAAG 4 -- int11Minor allele frequency- -:0.04NS 178
    rs558571751,2
    C--90301297(+) AAAAA-/A/AA  
            
    CTGCC
    4 -- int11NA 2
    rs30394351,2
    C--90307072(+) GCCTT-/AAAAA/AAAAAAAA/AAA
    AAAAAA
    /AAAAAAAAAAAAAA
    AAAAA
    7 -- int1 cds10--------
    rs1452417441,2
    C--90332245(+) TTATT-/AT    
       T
    /TTG
    GCTAA
    7 -- int1 cds10--------
    rs3710015151,2
    C--90332246(+) TATTA-/TTGCTAAC 4 -- int10--------
    rs1863997671,2
    --90351938(+) CACTAC/GATTCT 4 -- int10--------

    HapMap Linkage Disequilibrium report for TGFBR3 (92145900 - 92371892 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TGFBR3 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714684CNV Deletion23290073
    esv989733CNV Deletion20482838
    esv2661714CNV Deletion23128226
    esv988308CNV Deletion20482838
    esv2714795CNV Deletion23290073
    nsv830581CNV Loss17160897
    nsv519291CNV Loss19592680
    nsv525320CNV Loss19592680
    esv25877CNV Loss19812545
    nsv823520CNV Loss20364138

    Human Gene Mutation Database (HGMD): TGFBR3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGFBR3
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFBR3

    (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.)
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    OMIM gene information: 600742    OMIM disorders: --

    2 diseases for TGFBR3:    
    About MalaCards
    familial cerebral saccular aneurysm    priapism


    Find genes that share disorders with TGFBR3           About GenesLikeMe

    4 Novoseek inferred disease relationships for TGFBR3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 11.4 4 9312157 (2), 17160136 (1), 10519421 (1)
    tumors 7.26 1 17975259 (1)
    cancer 1.83 2 10519421 (1), 18299279 (1)
    metastasis 0.398 2 9293481 (1), 20208565 (1)

    Genetic Association Database (GAD): TGFBR3
    Human Genome Epidemiology (HuGE) Navigator: TGFBR3 (28 documents)

    Export disorders for TGFBR3 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 TGFBR3 gene, integrated from 10 sources (see all 153):
    (articles sorted by number of sources associating them with TGFBR3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of the human and porcine transforming growth factor-beta type III receptors. (PubMed id 1333192)1, 2, 3, 9 Moren A.... Miyazono K. (Biochem. Biophys. Res. Commun. 1992)
    2. Transforming growth factor-beta receptor-3 is associated with pulmonary emphysema. (PubMed id 19131638)1, 4, 9 Hersh C.P....Silverman E.K. (Am. J. Respir. Cell Mol. Biol. 2009)
    3. Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure. (PubMed id 16613887)1, 4, 9 Dixit H....Singh L. (Hum. Reprod. 2006)
    4. Eleven single nucleotide polymorphisms and one triple nucleotide insertion of the human TGF-beta III receptor gene. (PubMed id 10944857)1, 2, 9 Zippert R.... Schunkert H. (J. Hum. Genet. 2000)
    5. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    6. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection. (PubMed id 20587546)1, 4 Nalpas B....Abel L. (Gut 2010)
    10. Association between genetic variations of the transforming growth factor A9 receptor type III and asthma in a Korean population. (PubMed id 20386084)1, 4 Kim H.K....Kim Y.Y. (amp 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7049 HGNC: 11774 AceView: TGFBR3 Ensembl:ENSG00000069702 euGenes: HUgn7049
    ECgene: TGFBR3 H-InvDB: TGFBR3

    (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 TGFBR3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFBR3 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgfbr3/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGFBR3 gene:
    Search GeneIP for patents involving TGFBR3

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



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