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TGFB3 Gene

protein-coding   GIFtS: 72
GCID: GC14M076424

Transforming Growth Factor, Beta 3

(Previous name: arrhythmogenic right ventricular dysplasia 1)
(Previous symbols: ARVD1, ARVD)
  See TGFB3-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 31 2     RNHF2 5
ARVD11 2 5     Arrhythmogenic Right Ventricular Dysplasia 11
ARVD1 2     TGF-beta32
Prepro-Transforming Growth Factor Beta-31 2     Transforming Growth Factor Beta-32
TGF-beta-32 3     

External Ids:    HGNC: 117691   Entrez Gene: 70432   Ensembl: ENSG000001196997   OMIM: 1902305   UniProtKB: P106003   

Export aliases for TGFB3 gene to outside databases

Previous GC identifers: GC14M073930 GC14M070241 GC14M074414 GC14M075494 GC14M056593


(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 TGFB3 Gene:
This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in
embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right
ventricular dysplasia 1. (provided by RefSeq, Mar 2009)

GeneCards Summary for TGFB3 Gene:
TGFB3 (transforming growth factor, beta 3) is a protein-coding gene. Diseases associated with TGFB3 include arrhythmogenic right ventricular dysplasia 1, and rienhoff syndrome. GO annotations related to this gene include growth factor activity and identical protein binding. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot: TGFB3_HUMAN, P10600
Function: Involved in embryogenesis and cell differentiation

Gene Wiki entry for TGFB3 (Transforming growth factor, beta 3) 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:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGFB3 gene promoter:
         GR   GR-beta   Nkx2-5   Meis-1b   GATA-2   FOXO1a   GR-alpha   Meis-1a   FOXO1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGFB3 promoter sequence
   Search Chromatin IP Primers for TGFB3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGFB3


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

Entrez Gene cytogenetic band: 14q24   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24

TGFB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFB3 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M076424:  view genomic region     (about GC identifiers)

Start:
76,424,442 bp from pter      End:
76,449,334 bp from pter
Size:
24,893 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: TGFB3_HUMAN, P10600 (See protein sequence)
Recommended Name: Transforming growth factor beta-3 precursor  
Size: 412 amino acids; 47328 Da
Subunit: Homodimer; disulfide-linked. Interacts with ASPN
Sequence caution: Sequence=CAA33024.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
5 PDB 3D structures from and Proteopedia for TGFB3:
1KTZ (3D)        1TGJ (3D)        1TGK (3D)        2PJY (3D)        3EO1 (3D)    

Explore the universe of human proteins at neXtProt for TGFB3: NX_P10600

Explore proteomics data for TGFB3 at MOPED

Post-translational modifications: 

  • The precursor is cleaved into mature TGF-beta-3 and LAP, which remains non-covalently linked to mature TGF-beta-3
    rendering it inactive (By similarity)1
  • Glycosylation2 at Asn74, Asn135, Asn142
  • Modification sites at PhosphoSitePlus

  • See TGFB3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003230.1  
    ENSEMBL proteins: 
     ENSP00000238682   ENSP00000451110  
    Reactome Protein details: P10600

    TGFB3 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant TGFB3 Protein
    R&D Systems Recombinant & Natural Proteins for TGFB3 (TGF-beta 3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TGFB3
    OriGene Protein Over-expression Lysate for TGFB3
    OriGene MassSpec for TGFB3
    OriGene Custom Protein Services for TGFB3
    GenScript Custom Purified and Recombinant Proteins Services for TGFB3
    Novus Biologicals TGFB3 Proteins
    Novus Biologicals TGFB3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for TGFB3
    Browse Proteins at Cloud-Clone Corp.

     
    eBioscience Proteins for TGFB3: (see all 2
                        Human TGF beta 3 Recombinant Protein Carrier-Free 100 ug

    TGFB3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for TGFB3 (TGF-beta 3)
    Cell Signaling Technology (CST) Antibodies for TGFB3 
    OriGene Antibodies for TGFB3
    OriGene Custom Antibody Services for TGFB3
    Novus Biologicals TGFB3 Antibodies
    Abcam antibodies for TGFB3 (P10600, P01137)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for TGFB3
    LSBio Antibodies in human, mouse, rat for TGFB3

    TGFB3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TGFB3
    R&D Systems ELISAs for TGFB3 (TGF-beta 3)         (see all)
    GenScript Custom Assay Services for TGFB3
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for TGFB3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    Selected InterPro protein domains (see all 6):
     IPR001111 TGF-b_N
     IPR015615 TGF-beta-rel
     IPR016319 TGF-beta
     IPR001839 TGF-b_C
     IPR017948 TGFb_CS

    Graphical View of Domain Structure for InterPro Entry P10600

    ProtoNet protein and cluster: P10600

    5 Blocks protein domains:
    IPB001111 Transforming growth factor beta (TGFb)
    IPB001839 Transforming growth factor beta (TGFb)
    IPB002400 Growth factor cystine knot superfamily signature
    IPB003911 Transforming growth factor beta precursor signature
    IPB003941 Transforming growth factor beta 3 precursor signature


    UniProtKB/Swiss-Prot: TGFB3_HUMAN, P10600
    Similarity: Belongs to the TGF-beta family


    Find genes that share domains with TGFB3           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: TGFB3_HUMAN, P10600
    Function: Involved in embryogenesis and cell differentiation

         Genatlas biochemistry entry for TGFB3:
    transforming growth factor,beta 3,152.6kDa,homodimerizing,expressed by
    fibroblast,platelet,monocyte,chondrocyte,osteoblasts,including the latency associated peptide (LAP),involved in
    the pathogenesis of cleft lip and palate

         Summary: 
    During embryonic development, TGFB3 as signaling molecule is secreted from the following cells:
                
    Brain: Mature Choroid Plexus Cells (Choroid Plexus), Choroid Plexus Progenitor Cells (Choroid Plexus)
    Cartilage: Intervertebral Disc Annulus Fibrosus Cells (Annulus Fibrosus)

    It affects the following cells:
    Cartilage: Intervertebral Disc Annulus Fibrosus Cells (Annulus Fibrosus)

    TGFB3 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
          selected tissues (see all 5)      fully expand
    Cartilage: Hypertrophic chondrocytes like cells, Articular chondrocyte-like cells      fully expand to see all 16 cells
    Bone: HyStem+TGFbeta3+GDF5-induced MEL2 cells, Chondrocyte pellets      fully expand to see all 13 cells

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005114type II transforming growth factor beta receptor binding IPI1333888
    GO:0005160transforming growth factor beta receptor binding ----
    GO:0005515contributes to protein binding IPI9872992
    GO:0008083growth factor activity IEA--
    GO:0034713type I transforming growth factor beta receptor binding IDA18243111
         
    Find genes that share ontologies with TGFB3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for TGFB3:
     Decreased viability with pacli  Increased cell death HMECs cel 

         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tgfb3):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     normal  respiratory system  skeleton  vision/eye 

    Find genes that share phenotypes with TGFB3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TGFB3: Tgfb3tm1Jhg Tgfb3tm1Doe Tgfb3tm1.1Moaz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGFB3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGFB3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGFB3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGFB3

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGFB3:
    hsa-mir-10a-5p (MIRT047598), hsa-mir-29a-3p (MIRT005910)

    Block miRNA regulation of human, mouse, rat TGFB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGFB3 (see all 17):
    hsa-miR-300 hsa-miR-520d-5p hsa-miR-631 hsa-miR-875-5p hsa-miR-4312 hsa-miR-381 hsa-miR-516b* hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidTGFB3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TGFB3
    Predesigned siRNA for gene silencing in human, mouse, rat TGFB3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGFB3

    Clone
    Products:
         
    OriGene clones in human, mouse for TGFB3 (see all 6)
    OriGene ORF clones in mouse, rat for TGFB3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGFB3 (NM_003239)
    Sino Biological Human cDNA Clone for TGFB3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB3

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TGFB3
    ESI BIO PureStem Progenitors for TGFB3: 
    PureStem ES-210, Ecto-ntu Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB3


    (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
    TGFB3_HUMAN, P10600: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    cytoskeleton2
    golgi apparatus2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane IC11157754

    Find genes that share ontologies with TGFB3           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 TGFB3 About   (see all 58)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1PEDF Induced Signaling
    MIF Regulation of Innate Immune Cells0.94
    IL-6 Pathway0.61
    MIF Mediated Glucocorticoid Regulation0.94
    STAT3 Pathway0.47
    PEDF Induced Signaling0.73
    Endothelin-1 Signaling Pathway0.46
    all-trans-Retinoic Acid Signaling in Brain0.71
    Cytokine-cytokine receptor interaction0.43
    2MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    3Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    4GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with TGFB3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected R&D Systems Pathways for TGFB3 (see all 6)
        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
    IL-9 Signaling and its Primary Biological Effects in Different Immune Cell Types
    Th17 Differentiation
    TGF-beta Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TGFB3 (see all 76)
        Telomerase Components in Cell Signaling
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    2 Cell Signaling Technology (CST) Pathways for TGFB3
        Angiogenesis
    TGF-beta/Smad Signaling

    5 BioSystems Pathways for TGFB3
        MAPK signaling pathway
    TGF-beta Receptor Signaling Pathway
    Glypican 1 network
    TGF-beta receptor signaling
    ALK1 signaling events

    1 Sino Biological Pathway for TGFB3
        TGF-beta Signaling Pathway

    3 Reactome Pathways for TGFB3
        Molecules associated with elastic fibres
    ECM proteoglycans
    Platelet degranulation


    Selected Kegg Pathways  (Kegg details for TGFB3) (see all 24):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    FoxO signaling pathway
    Cell cycle
    Endocytosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFB3 (see all 12): 
              Osteogenesis in human mouse rat
              Growth Factors in human mouse rat
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGFB3

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

    Selected Interacting proteins for TGFB3 (P106001, 2, 3 ENSP000002386824) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371731, 2, 3, ENSP000003519054EBI-1033020,EBI-296151 MINT-8182884 MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 MINT-8182809 I2D: score=6 STRING: ENSP00000351905
    TGFBR3Q031672, 3, ENSP000002123554MINT-8182955 I2D: score=2 STRING: ENSP00000212355
    TGFBR1P368972, 3, ENSP000003641334MINT-8182908 MINT-8183771 MINT-8182846 MINT-8182828 MINT-8182931 I2D: score=3 STRING: ENSP00000364133
    FMODQ068283, ENSP000003470414I2D: score=2 STRING: ENSP00000347041
    VASNQ6EMK43, ENSP000003068644I2D: score=2 STRING: ENSP00000306864
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 51):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IEA--
    GO:0001666response to hypoxia IDA18156205
    GO:0001701in utero embryonic development ISS--
    GO:0002576platelet degranulation TAS--
    GO:0007179transforming growth factor beta receptor signaling pathway IDA11157754

    Find genes that share ontologies with TGFB3           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 TGFB3

    1 DrugBank Compound for TGFB3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,4-Diethylene Dioxide-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for TGFB3 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 81 55 17270215 (6), 11514049 (5), 11413354 (4), 10598907 (3) (see all 28)
    glycosaminoglycan 50.6 4 15639641 (1), 17673669 (1), 17540854 (1), 19296541 (1)
    4-hydroperoxycyclophosphamide 47.3 2 1493854 (1)
    4-hydroxytamoxifen 39.6 4 10811566 (1), 1834933 (1), 8143893 (1)
    ribonucleic acid 32.7 5 7962292 (1), 8013382 (1), 8784073 (1)
    progestin 30.1 1 8788200 (1)
    polyglycolic acid 29.8 18 17518652 (1), 19195026 (1), 17195220 (1)
    alginate 25.4 3 18950289 (2), 16572454 (1)
    estrogen 24.4 14 11159847 (3), 8612550 (2), 1834933 (2), 8143893 (1) (see all 5)
    raloxifene 19.5 6 8612550 (4), 11641521 (1)



    Find genes that share compounds with TGFB3           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 TGFB3 gene: 
    NM_003239.2  

    Unigene Cluster for TGFB3:

    Transforming growth factor, beta 3
    Hs.592317  [show with all ESTs]
    Unigene Representative Sequence: NM_003239
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554980 ENST00000238682(uc001xsc.2) ENST00000556507 ENST00000557493
    ENST00000556285(uc001xsd.3) ENST00000555193 ENST00000556674
    miRNA
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    Block miRNA regulation of human, mouse, rat TGFB3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TGFB3 (see all 17):
    hsa-miR-300 hsa-miR-520d-5p hsa-miR-631 hsa-miR-875-5p hsa-miR-4312 hsa-miR-381 hsa-miR-516b* hsa-miR-3661
    SwitchGear 3'UTR luciferase reporter plasmidTGFB3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TGFB3
    Predesigned siRNA for gene silencing in human, mouse, rat TGFB3
    Clone
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    OriGene clones in human, mouse for TGFB3 (see all 6)
    OriGene ORF clones in mouse, rat for TGFB3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGFB3 (NM_003239)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TGFB3
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFB3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGFB3
      QuantiTect SYBR Green Assays in human, mouse, rat TGFB3
      QuantiFast Probe-based Assays in human, mouse, rat TGFB3

    Additional mRNA sequence: 

    AK122902.1 AK313564.1 BC018503.1 BT007287.1 EF560714.1 J03241.1 X14149.1 

    9 DOTS entries:

    DT.215431  DT.100714802  DT.92423994  DT.40218690  DT.306255  DT.95161997  DT.91940060  DT.95284401 
    DT.97799847 

    Selected AceView cDNA sequences (see all 115):

    BQ030450 AA040274 W92741 BU151315 AK122902 BX645476 BQ006716 CD671877 
    CR611616 BX336094 AL120171 AL532438 CA392865 BX399398 BQ130448 BX356587 
    BI962560 AA460528 BI962684 F04539 BM677003 BC018503 BX111975 C02030 

    GeneLoc Exon Structure


    (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)
    About This Section

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    TGFB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCACACAG
    TGFB3 Expression
    About this image


    TGFB3 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
     
     Bone (Muscoskeletal System)    fully expand to see all 11 entries
             Hypertrophic Chondrocytes Rib
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 7 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Pancreas (Endocrine System)    fully expand to see all 6 entries
             Duct Cells Pancreatic Ducts
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
    TGFB3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGFB3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.592317
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFB3 (see all 12): 
              Osteogenesis in human mouse rat
              Growth Factors in human mouse rat
              Fibrosis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Angiogenesis 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 animals.

    Orthologs for TGFB3 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfb31 , 5 transforming growth factor, beta 31, 5 91.5(n)1
    97.57(a)1
      12 (40.09 cM)5
    218091  NM_009368.31  NP_033394.21 
     860567445 
    chicken
    (Gallus gallus)
    Aves TGFB31 transforming growth factor, beta 3 82.28(n)
    88.35(a)
      396438  NM_205454.1  NP_990785.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGFB36
    transforming growth factor, beta 3
    76(a)
    1 ↔ 1
    1(21990965-22021438)
    zebrafish
    (Danio rerio)
    Actinopterygii tgfb32 transforming growth factor, beta 3 79.41(n)   369195  AY338731.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta daw6
    dawdle
    15(a)
    1 → many
    2L(2805518-2812147)


    ENSEMBL Gene Tree for TGFB3 (if available)
    TreeFam Gene Tree for TGFB3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TGFB3 gene
    GDF112  MSTN2  INHBE2  TGFB22  INHBB2  INHBC2  INHBA2  TGFB12  
    8 SIMAP similar genes for TGFB3 using alignment to 7 protein entries:     TGFB3_HUMAN (see all proteins):
    TGFB2    DKFZp686A06204    GDF5    BMP7    TGFB1    gdf7
    GDF8    BMP6

    Find genes that share paralogs with TGFB3           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 TGFB3 (see all 574)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1930593641,2
    --57410073(+) CAGAAC/TTAGCC 1 -- ds50010--------
    rs1852426831,2
    --57410136(+) CGGGTC/GGGGGG 1 -- ds50010--------
    rs1492727361,2
    --57410206(+) ATGCAA/GGGATT 1 -- ds50010--------
    rs39172191,2
    H--57410234(-) ATACCT/CGTGGG 1 -- ds50015Minor allele frequency- C:0.00NS EA 568
    rs1897489901,2
    --57410256(+) ATTCGA/TATGTG 1 -- ds50010--------
    rs1394754441,2
    --57410652(+) AGTCTA/GTGCGT 1 -- ut310--------
    rs1814193421,2
    --57410658(+) TGCGTC/TTGGGG 1 -- ut310--------
    rs1165861101,2
    C,F--57410783(+) CCATAA/GTGCCC 1 -- ut311Minor allele frequency- G:0.02WA 118
    rs39172181,2
    C,F,H--57410787(-) CTTGGG/AGCATT 1 -- ut3116Minor allele frequency- A:0.02NS NA EU WA 1494
    rs101294781,2
    C,F,H--57410911(+) ACAGGA/GGAGGG 1 -- ut31 ese39Minor allele frequency- G:0.02NS EA NA EU CSA WA 623

    HapMap Linkage Disequilibrium report for TGFB3 (76424442 - 76449334 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TGFB3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1360CNV Loss18451855
    nsv902101CNV Loss21882294

    Human Gene Mutation Database (HGMD): TGFB3
    Locus Specific Mutation Databases (LSDB): TGFB3

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing TGFB3:
    Pancreatic Cancer
    SeqTarget long-range PCR primers for resequencing TGFB3
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFB3

    (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: 190230   
    OMIM disorders: 107970  615582  
    UniProtKB/Swiss-Prot: TGFB3_HUMAN, P10600
  • Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1) [MIM:107970]: A congenital heart disease
    characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial
    cells, resulting in ventricular and supraventricular arrhythmias. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 17 diseases for TGFB3:    
    About MalaCards
    arrhythmogenic right ventricular dysplasia 1    rienhoff syndrome    arrhythmogenic right ventricular dysplasia/cardiomyopathy 1    arrhythmogenic right ventricular dysplasia
    juvenile nasopharyngeal angiofibroma    precocious puberty, male    hemimegalencephaly    diabetic foot ulcers
    van der woude syndrome    desmoplastic small round cell tumor    hypertrophic scars    cleft lip
    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, left dominant form    leiomyoma    familial isolated arrhythmogenic ventricular dysplasia, right dominant form
    cleft palate

    4 diseases from the University of Copenhagen DISEASES database for TGFB3:
    Cleft palate     Cleft lip     Cancer     Craniosynostosis

    Find genes that share disorders with TGFB3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TGFB3 gene (see all 50)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cleft palate 60.5 12 10433915 (4), 15668235 (1), 16245336 (1), 14653390 (1) (see all 7)
    cleft lip 59.6 12 12733956 (2), 9003904 (2), 14653390 (2), 11396489 (1) (see all 6)
    arrhythmogenic right ventricular dysplasia 48 2 15639468 (1), 15639475 (1)
    keloid 44.2 5 16043141 (2), 10454326 (1), 20428796 (1), 11496185 (1)
    scar 42.3 17 19223298 (2), 10454326 (1), 16980850 (1), 18300967 (1) (see all 9)
    leiomyoma 41.1 28 10785229 (6), 11158066 (5), 16613890 (3), 15139000 (1) (see all 8)
    stomatitis 35 5 9192553 (2), 11565840 (2), 8118793 (1)
    peritoneal adhesions 31.6 1 11387308 (1)
    uterine leiomyoma 26.8 8 18272045 (2), 16697947 (2), 19700613 (1), 16613890 (1)
    preeclampsia 26.3 8 17671384 (2), 20075204 (1), 11869091 (1)

    GeneTests: TGFB3
    GeneReviews: TGFB3
    Genetic Association Database (GAD): TGFB3
    Human Genome Epidemiology (HuGE) Navigator: TGFB3 (36 documents)

    Export disorders for TGFB3 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 TGFB3 gene, integrated from 10 sources (see all 468):
    (articles sorted by number of sources associating them with TGFB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. (PubMed id 15639475)1, 2, 3, 9 Beffagna G....Rampazzo A. (Cardiovasc. Res. 2005)
    2. [No association between 3 polymorphisms of transforming growth factor beta3 gene and essential hypertension in Chinese]. (PubMed id 15924806)1, 4, 9 Hu B.C....Zhu D.L. (Zhonghua Xin Xue Guan Bing Za Zhi 2005)
    3. Maternal and fetal variants in the TGF-beta3 gene and risk of pregnancy-induced hypertension in a predominantly Latino population. (PubMed id 19628198)1, 4, 9 Wilson M.L....Ingles S.A. (Am. J. Obstet. Gynecol. 2009)
    4. Genetic susceptibility to keloid disease: mutation screening of the TGFbeta3 gene. (PubMed id 16043141)1, 4, 9 Bayat A....Ferguson M.W. (Br J Plast Surg 2005)
    5. Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients. (PubMed id 14659070)1, 4, 9 Kim M.H....Nahm D.S. (J. Biochem. Mol. Biol. 2003)
    6. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. (PubMed id 11754469)1, 4, 9 Beaty T.H....McIntosh I. (Genet. Epidemiol. 2002)
    7. Association between genetic variation in transforming growth factors beta1 and beta3 and renal dysfunction in non-diabetic Chinese. (PubMed id 18293167)1, 4, 9 Hu B.C....Wang J.G. (Clin. Exp. Hypertens. 2008)
    8. Transforming growth factor-beta gene polymorphisms in sarcoidosis patients with and without fibrosis. (PubMed id 16778279)1, 4, 9 Kruit A....van den Bosch J.M. (Chest 2006)
    9. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. (PubMed id 12733956)1, 4, 9 Slayton R.L....Nishimura C.J. (Cleft Palate Craniofac. J. 2003)
    10. MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non-syndromic cleft lip and cleft palate in China. (PubMed id 20082468)1, 4, 9 Zhu J....Li Z. (Am. J. Med. Genet. A 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: 7043 HGNC: 11769 AceView: TGFB3 Ensembl:ENSG00000119699 euGenes: HUgn7043
    ECgene: TGFB3 Kegg: 7043 H-InvDB: TGFB3

    (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 TGFB3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFB3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TGFB3[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgfb3/
    SeattleSNPshttp://pga.gs.washington.edu/data/tgfb3/
    Wikipedia http://en.wikipedia.org/wiki/TGF_beta_3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGFB3 gene:
    Search GeneIP for patents involving TGFB3

    Licensable Technologies for TGFB3 gene:
     Tufts University:  Use of miRNAs to selectively modulate TGF-beta/BMP signaling to treat TGF-beta/BMP mediated disorders
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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