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TGFB1 Gene

protein-coding   GIFtS: 74
GCID: GC19M041837

Transforming Growth Factor, Beta 1


(Previous symbols: TGFB, DPD1)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transforming Growth Factor, Beta 11 2     Camurati-Engelmann Disease1
TGFB1 2 3     LAP2
DPD11 2 5     TGFbeta2
Prepro-Transforming Growth Factor Beta-11 2     Latency-Associated Peptide2
TGF-beta-12 3     Transforming Growth Factor Beta-12
CED2 5     

External Ids:    HGNC: 117661   Entrez Gene: 70402   Ensembl: ENSG000001053297   OMIM: 1901805   UniProtKB: P011373   

Export aliases for TGFB1 gene to outside databases

Previous GC identifers: GC19M042475 GC19M042227 GC19M046484 GC19M046528 GC19M038268


(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 TGFB1 Gene:
This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are
multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions
in many cell types. Many cells have TGFB receptors, and the protein positively and negatively regulates many
other growth factors. The secreted protein is cleaved into a latency-associated peptide (LAP) and a mature TGFB1
peptide, and is found in either a latent form composed of a TGFB1 homodimer, a LAP homodimer, and a latent
TGFB1-binding protein, or in an active form composed of a TGFB1 homodimer. The mature peptide may also form
heterodimers with other TGFB family members. This gene is frequently upregulated in tumor cells, and mutations in
this gene result in Camurati-Engelmann disease.(provided by RefSeq, Oct 2009)

GeneCards Summary for TGFB1 Gene:
TGFB1 (transforming growth factor, beta 1) is a protein-coding gene. Diseases associated with TGFB1 include communicating hydrocephalus, and dacryoadenitis. GO annotations related to this gene include enzyme binding and protein homodimerization activity. An important paralog of this gene is GDF11.

UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell
types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates
many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of
osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts

Gene Wiki entry for TGFB1 (TGF beta 1) 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_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGFB1 gene promoter:
         AhR   MAZR   p53   Nkx2-5   AP-2gamma   Arnt   PPAR-gamma1   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): TGFB1 promoter sequence
   Search Chromatin IP Primers for TGFB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGFB1


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

TGFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGFB1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041837:  view genomic region     (about GC identifiers)

Start:
41,807,492 bp from pter      End:
41,859,831 bp from pter
Size:
52,340 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137 (See protein sequence)
Recommended Name: Transforming growth factor beta-1 precursor  
Size: 390 amino acids; 44341 Da
Subunit: Homodimer; disulfide-linked, or heterodimer with TGFB2 (By similarity). Secreted and stored as a
biologically inactive form in the extracellular matrix in a 290 kDa complex (large latent TGF-beta1 complex)
containing the TGFB1 homodimer, the latency-associated peptide (LAP), and the latent TGFB1 binding protein-1
(LTBP1). The complex without LTBP1 is known as the'small latent TGF-beta1 complex'. Dissociation of the TGFB1
from LAP is required for growth factor activation and biological activity. Release of the large latent TGF-beta1
complex from the extracellular matrix is carried out by the matrix metalloproteinase MMP3 (By similarity). May
interact with THSD4; this interaction may lead to sequestration by FBN1 microfibril assembly and attenuation of
TGFB signaling. Interacts with the serine proteases, HTRA1 and HTRA3: the interaction with either inhibits
TGFB1-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity).
Latency-associated peptide interacts with NREP; the interaction results in a decrease in TGFB1 autoinduction (By
similarity). Interacts with CD109, DPT and ASPN
4 PDB 3D structures from and Proteopedia for TGFB1:
1KLA (3D)        1KLC (3D)        1KLD (3D)        3KFD (3D)    
Secondary accessions: A8K792 Q9UCG4

Explore the universe of human proteins at neXtProt for TGFB1: NX_P01137

Explore proteomics data for TGFB1 at MOPED

Post-translational modifications: 

  • Glycosylated1
  • The precursor is cleaved into mature TGF-beta-1 and LAP, which remains non-covalently linked to mature TGF-beta-1
    rendering it inactive1
  • Ubiquitination2 at Lys291
  • Glycosylation2 at Asn82, Asn136, Asn176
  • Modification sites at PhosphoSitePlus

  • See TGFB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000651.3  
    ENSEMBL proteins: 
     ENSP00000472767   ENSP00000221930  
    Reactome Protein details: P01137

    TGFB1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant TGFB1 Protein
    R&D Systems Recombinant & Natural Proteins for TGFB1 (LAP (TGF-beta 1), TGF-beta 1)
    Enzo Life Sciences proteins for TGFB1
    OriGene Purified Protein for TGFB1
    OriGene Protein Over-expression Lysate for TGFB1
    OriGene MassSpec for TGFB1
    OriGene Custom Protein Services for TGFB1
    GenScript Custom Purified and Recombinant Proteins Services for TGFB1
    Novus Biologicals TGFB1 Proteins
    Novus Biologicals TGFB1 Lysates
    Sino Biological Recombinant Protein for TGFB1
    Sino Biological Cell Lysate for TGFB1
    ProSpec Recombinant Protein for TGFB1
    Browse Proteins at Cloud-Clone Corp.

    TGFB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TGFB1
    R&D Systems Antibodies for TGFB1 (TGF-beta 1/1.2, LAP (TGF-beta 1), TGF-beta 1)
    Cell Signaling Technology (CST) Antibodies for TGFB1 
    OriGene Antibodies for TGFB1
    OriGene Custom Antibody Services for TGFB1
    Novus Biologicals TGFB1 Antibodies
    Abcam antibodies for TGFB1 (P61812, P01137)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for TGFB1
    LSBio Antibodies in human, mouse, rat for TGFB1

    TGFB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TGFB1
    R&D Systems Flow Cytometry Kits for TGFB1 (TGF-beta 1)         (see all)
    GenScript Custom Assay Services for TGFB1
    Enzo Life Sciences assays for TGFB1
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 P01137

    ProtoNet protein and cluster: P01137

    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
    IPB003939 Transforming growth factor beta 1 precursor signature


    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Domain: The 'straitjacket' and 'arm' domains encircle the growth factor monomers and are fastened together by
    strong bonding between Lys-56 and Tyr-103/Tyr-104. Activation of TGF-beta1 requires the binding of integrin
    alpha-V to an RGD sequence in the prodomain and exertion of force on this domain, which is held in the
    extracellular matrix by latent TGF-beta binding proteins. The sheer physical force unfastens the straitjacket and
    releases the active growth factor dimer (By similarity)
    Similarity: Belongs to the TGF-beta family


    TGFB1 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: TGFB1_HUMAN, P01137
    Function: Multifunctional protein that controls proliferation, differentiation and other functions in many cell
    types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates
    many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of
    osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts
    Induction: Activated in vitro at pH below 3.5 and over 12.5

         Genatlas biochemistry entry for TGFB1:
    transforming growth factor,beta 1,152.6kDa,homodimerizing,expressed by
    fibroblast,platelet,monocyte,chondrocyte,osteoblasts,stimulating articular chondrocyte cell growth through MAPK3
    activation,including the latency associated peptide (LAP),involved in the growth inhibition suppression by the
    complex Rb/Bog,may be implicated in susceptibility to atherosclerosis,bone diseases or various forms of
    cancer,regarding the presence of particular alleles at the locus

         Summary: 
    During embryonic development, TGFB1 as signaling molecule is secreted from the following cells:
          selected tissues (see all 6)      fully expand
    Limb: Prechondrocytic Mesenchymal Cells (Stylopod), Prechondrocytic Mesenchymal Cells (Autopod)      fully expand to see all 3 cells
    Tooth: Early Ameloblasts (Dental Enamel)

    It affects the following cells:
          selected tissues (see all 7)      fully expand
    Limb: Prechondrocytic Mesenchymal Cells (Zeugopod), Prechondrocytic Mesenchymal Cells (Autopod)      fully expand to see all 6 cells
    Heart: Mesenchymal Cells (Epicardium), Vascular Smooth Muscle Cells (Aortic Arch Arteries)      fully expand to see all 2 cells

    TGFB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
          selected tissues (see all 4)      fully expand
    Smooth Muscle: Lateral plate mesoderm-derived smooth muscle cells, Smooth muscle-like cells      fully expand to see all 6 cells
    Cartilage: Intervertebral disc (IVD) annulus fibrosus (AF) cells (Mm), Chondrocytes      fully expand to see all 4 cells

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding IPI16754747
    GO:0005114type II transforming growth factor beta receptor binding IPI1333888
    GO:0005515protein binding IPI10092230
    GO:0008083growth factor activity IEA--
    GO:0019899enzyme binding IPI19366691
         
    TGFB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TGFB1:
     Decreased viability with pacli 

         Selected MGI mutant phenotypes (inferred from 11 alleles(MGI details for Tgfb1) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  liver/biliary system  mortality/aging 

    TGFB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TGFB1: Tgfb1tm1Doe Tgfb1tm1N

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGFB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGFB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGFB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGFB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGFB1:
    hsa-mir-633 (MIRT006499), hsa-mir-24-3p (MIRT005918), hsa-mir-744-5p (MIRT037719), hsa-mir-21-5p (MIRT030730)

    Block miRNA regulation of human, mouse, rat TGFB1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TGFB1:
    hsa-miR-663 hsa-miR-3180-3p hsa-miR-1908 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmidTGFB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TGFB1
    Predesigned siRNA for gene silencing in human, mouse, rat TGFB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGFB1

    Clone
    Products:
         
    OriGene clones in human, mouse for TGFB1 (see all 7)
    OriGene ORF clones in mouse, rat for TGFB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGFB1 (NM_000660)
    Sino Biological Human cDNA Clone for TGFB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TGFB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for TGFB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1


    (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
    TGFB1_HUMAN, P01137: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus4
    nucleus4
    cytoskeleton3
    plasma membrane3
    cytosol2
    endoplasmic reticulum2
    mitochondrion2
    peroxisome2
    endosome1

    Gene Ontology (GO): Selected cellular component terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ISS--
    GO:0005615extracellular space IDA19734317
    GO:0005634nucleus IDA18040277
    GO:0005737cytoplasm IDA18040277

    TGFB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TGFB1 About   (see all 97)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics0.37
    ACE Inhibitor Pathway0.00
    ACE Inhibitor Pathway, Pharmacodynamics0.00
    2Cell cycle
    Cell cycle0.59
    Cell cycle0.59
    3MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    4PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    Cytokine-cytokine receptor interaction0.43
    5Apoptotic 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected R&D Systems Pathways for TGFB1 (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 TGFB1 (see all 69)
        Telomerase Components in Cell Signaling
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    2 Cell Signaling Technology (CST) Pathways for TGFB1
        Angiogenesis
    TGF-beta/Smad Signaling

    Selected GeneGo (Thomson Reuters) Pathways for TGFB1 (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

    Selected BioSystems Pathways for TGFB1 (see all 27)
        ACE Inhibitor Pathway
    MAPK signaling pathway
    MicroRNAs in cardiomyocyte hypertrophy
    Cytokines and Inflammatory Response
    Cell cycle

    1 Sino Biological Pathway for TGFB1
        TGF-beta Signaling Pathway

    Selected Reactome Pathways for TGFB1 (see all 15)
        Transcriptional regulation of white adipocyte differentiation
    TGF-beta receptor signaling activates SMADs
    TGFBR2 MSI Frameshift Mutants in Cancer
    Influenza Virus Induced Apoptosis
    TGFBR2 Kinase Domain Mutants in Cancer

    3 PharmGKB Pathways for TGFB1
        ACE Inhibitor Pathway, Pharmacodynamics
    Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for TGFB1) (see all 28):
        MAPK signaling pathway
    Cytokine-cytokine receptor interaction
    FoxO signaling pathway
    Cell cycle
    Endocytosis


    TGFB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFB1 (see all 38): 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGFB1

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

    Selected Interacting proteins for TGFB1 (P011371, 2, 3 ENSP000002219304) via UniProtKB, MINT, STRING, and/or I2D (see all 201) (see top 5)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFBR2P371731, 2, 3, ENSP000003519054EBI-779636,EBI-296151 MINT-7990932 MINT-8044787 I2D: score=5 STRING: ENSP00000351905
    DIP2AQ146891, 2, 3, ENSP000003920664EBI-779636,EBI-2564275 MINT-7990981 MINT-7991013 I2D: score=1 STRING: ENSP00000392066
    APPP050671, 3, ENSP000002849814EBI-779636,EBI-77613 I2D: score=3 STRING: ENSP00000284981
    TGFBR3Q031671, 3, ENSP000002123554EBI-779636,EBI-2852679 I2D: score=3 STRING: ENSP00000212355
    DAXXQ9UER73, ENSP000003968764I2D: score=1 STRING: ENSP00000396876
    ENSG00000206206Q9UER73I2D: score=1 
    ENSG00000206279Q9UER73I2D: score=1 
    ENSG00000227046Q9UER73I2D: score=1 
    ENSG00000231617Q9UER73I2D: score=1 
    FSTL1Q128411, 2, 3, ENSP000002956334EBI-779636,EBI-2349801 MINT-7990941 MINT-7990813 I2D: score=1 STRING: ENSP00000295633
    TGFBR1P368971, 3, ENSP000003641334EBI-779636,EBI-1027557 I2D: score=3 STRING: ENSP00000364133
    ENGP178131, 3, ENSP000003622994EBI-779636,EBI-2834630 I2D: score=3 STRING: ENSP00000362299
    THBS1P079961, 3, ENSP000002603564EBI-779636,EBI-2530274 I2D: score=3 STRING: ENSP00000260356
    WFIKKN1Q96NZ82, 3, ENSP000003247634MINT-8044138 I2D: score=1 STRING: ENSP00000324763
    WFIKKN2Q8TEU82, 3, ENSP000003111844MINT-8044312 I2D: score=1 STRING: ENSP00000311184
    COL2A1P024583, ENSP000003698894I2D: score=3 STRING: ENSP00000369889
    EIF3IQ133473, ENSP000003626884I2D: score=3 STRING: ENSP00000362688
    FMODQ068283, ENSP000003470414I2D: score=3 STRING: ENSP00000347041
    YWHAEP622583, ENSP000002643354I2D: score=3 STRING: ENSP00000264335
    BGNP218103, ENSP000003273364I2D: score=2 STRING: ENSP00000327336
    CTGFP292793, ENSP000003569544I2D: score=2 STRING: ENSP00000356954
    DCNP075853, ENSP000000527544I2D: score=2 STRING: ENSP00000052754
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    FNTAP493543, ENSP000003034234I2D: score=2 STRING: ENSP00000303423
    LTBP4Q8N2S13, ENSP000003119054I2D: score=2 STRING: ENSP00000311905
    MMP2P082533, ENSP000002190704I2D: score=2 STRING: ENSP00000219070
    SPARCP094863, ENSP000002310614I2D: score=2 STRING: ENSP00000231061
    BMP2P126433, ENSP000003681044I2D: score=1 STRING: ENSP00000368104
    LTBP1Q147663, ENSP000003464674I2D: score=1 STRING: ENSP00000346467
    LTBP3Q9NS153, ENSP000003018734I2D: score=1 STRING: ENSP00000301873
    SMAD2Q157963, ENSP000002621604I2D: score=1 STRING: ENSP00000262160
    SMAD3P840223, ENSP000003329734I2D: score=1 STRING: ENSP00000332973
    TGFBRAP1Q8WUH23, ENSP000002584494I2D: score=1 STRING: ENSP00000258449
    TP53P046373, ENSP000002693054I2D: score=1 STRING: ENSP00000269305
    A2MP010233, ENSP000003239294I2D: score=1 STRING: ENSP00000323929
    TGFB2P618123, ENSP000003558964I2D: score=2 STRING: ENSP00000355896
    BMP3P126453, ENSP000002827014I2D: score=1 STRING: ENSP00000282701
    CCL3P101473, ENSP000002252454I2D: score=2 STRING: ENSP00000225245
    DPTQ075073, ENSP000003567914I2D: score=2 STRING: ENSP00000356791
    FCN1O006023, ENSP000003608714I2D: score=3 STRING: ENSP00000360871
    ITGAVP067563, ENSP000002610234I2D: score=2 STRING: ENSP00000261023
    ITGB6P185643, ENSP000002832494I2D: score=1 STRING: ENSP00000283249
    ITGB8P260123, ENSP000002225734I2D: score=1 STRING: ENSP00000222573
    MMP9P147803, ENSP000003614054I2D: score=1 STRING: ENSP00000361405
    SDC2P347413, ENSP000003070464I2D: score=1 STRING: ENSP00000307046
    VASNQ6EMK43, ENSP000003068644I2D: score=2 STRING: ENSP00000306864
    FKBP1AP629423, ENSP000003711384I2D: score=1 STRING: ENSP00000371138
    SNIP1Q8TAD83, ENSP000002962154I2D: score=1 STRING: ENSP00000296215
    VTNP040043, ENSP000002262184I2D: score=2 STRING: ENSP00000226218
    EPS15P425663, ENSP000003607984I2D: score=1 STRING: ENSP00000360798
    VDRP114733, ENSP000002290224I2D: score=1 STRING: ENSP00000229022
    LAMB1P079423, ENSP000002223994I2D: score=3 STRING: ENSP00000222399
    ACVRL1P370233I2D: score=4 
    ALAS2P225573I2D: score=2 
    DSTQ030013I2D: score=2 
    EFEMP1Q128053I2D: score=2 
    FBN1P355553I2D: score=2 
    FLNAP213333I2D: score=2 
    SPTBN1Q010823I2D: score=2 
    SYNE1Q8NF913I2D: score=2 
    HTRA1Q927433I2D: score=1 
    SUZ12Q150223I2D: score=1 
    TGFBIQ155823I2D: score=1 
    ACTN1ENSP000003779414STRING: ENSP00000377941
    ACTN2ENSP000003555374STRING: ENSP00000355537
    ACTN4ENSP000002526994STRING: ENSP00000252699
    ALBENSP000002958974STRING: ENSP00000295897
    ALDOAENSP000003369274STRING: ENSP00000336927
    CAV1ENSP000003391914STRING: ENSP00000339191
    CCNCENSP000003582224STRING: ENSP00000358222
    CDK19ENSP000003579074STRING: ENSP00000357907
    CDK8ENSP000003709384STRING: ENSP00000370938
    CEBPBENSP000003054224STRING: ENSP00000305422
    CEBPDENSP000003861654STRING: ENSP00000386165
    CFDENSP000003321394STRING: ENSP00000332139
    CGNENSP000002716364STRING: ENSP00000271636
    CLUENSP000003151304STRING: ENSP00000315130
    EBF1ENSP000003228984STRING: ENSP00000322898
    EGFENSP000002651714STRING: ENSP00000265171
    EGR2ENSP000002424804STRING: ENSP00000242480
    ENSG00000270149ENSP000002897794STRING: ENSP00000289779
    F13A1ENSP000002648704STRING: ENSP00000264870
    F5ENSP000003567714STRING: ENSP00000356771
    F8ENSP000003533934STRING: ENSP00000353393
    FABP4ENSP000002561044STRING: ENSP00000256104
    FIGFENSP000002979044STRING: ENSP00000297904
    FOSENSP000003062454STRING: ENSP00000306245
    FURINENSP000002681714STRING: ENSP00000268171
    GAS6ENSP000003318314STRING: ENSP00000331831
    HDAC3ENSP000003029674STRING: ENSP00000302967
    IFNGENSP000002291354STRING: ENSP00000229135
    IL17AENSP000003441924STRING: ENSP00000344192
    JUNENSP000003602664STRING: ENSP00000360266
    KLF4ENSP000003638044STRING: ENSP00000363804
    KLF5ENSP000003669154STRING: ENSP00000366915
    KNG1ENSP000002650234STRING: ENSP00000265023
    LEPENSP000003126524STRING: ENSP00000312652
    MAPK1ENSP000002158324STRING: ENSP00000215832
    MAPK3ENSP000002630254STRING: ENSP00000263025
    MED12ENSP000003631934STRING: ENSP00000363193
    MED15ENSP000002632054STRING: ENSP00000263205
    MED17ENSP000002518714STRING: ENSP00000251871
    MED18ENSP000003629484STRING: ENSP00000362948
    MED19ENSP000003373404STRING: ENSP00000337340
    MED21ENSP000002828924STRING: ENSP00000282892
    MED22ENSP000003423434STRING: ENSP00000342343
    MED23ENSP000003570474STRING: ENSP00000357047
    MED26ENSP000002633904STRING: ENSP00000263390
    MED27ENSP000002920354STRING: ENSP00000292035
    MED29ENSP000003143434STRING: ENSP00000314343
    MED30ENSP000002973474STRING: ENSP00000297347
    MED31ENSP000002257284STRING: ENSP00000225728
    MMRN1ENSP000002647904STRING: ENSP00000264790
    NCOA1ENSP000003209404STRING: ENSP00000320940
    NCOA2ENSP000003999684STRING: ENSP00000399968
    NCOA3ENSP000003610664STRING: ENSP00000361066
    NCOR2ENSP000003485514STRING: ENSP00000348551
    NEDD4LENSP000003831994STRING: ENSP00000383199
    PARD3ENSP000003639214STRING: ENSP00000363921
    PF4ENSP000002960294STRING: ENSP00000296029
    PLGENSP000003089384STRING: ENSP00000308938
    PPARGC1AENSP000002648674STRING: ENSP00000264867
    PPBPENSP000002960284STRING: ENSP00000296028
    PPP1CBENSP000002961224STRING: ENSP00000296122
    PPP1CCENSP000003350844STRING: ENSP00000335084
    PRKCZENSP000003678304STRING: ENSP00000367830
    RPS6KB1ENSP000002255774STRING: ENSP00000225577
    RXRAENSP000004196924STRING: ENSP00000419692
    SDC1ENSP000002543514STRING: ENSP00000254351
    SERPINA1ENSP000003480684STRING: ENSP00000348068
    SERPINE1ENSP000002230954STRING: ENSP00000223095
    SERPINF2ENSP000003218534STRING: ENSP00000321853
    SERPING1ENSP000002784074STRING: ENSP00000278407
    SMAD4ENSP000003415514STRING: ENSP00000341551
    SMAD7ENSP000002621584STRING: ENSP00000262158
    SMAD9ENSP000003691544STRING: ENSP00000369154
    SMURF2ENSP000002624354STRING: ENSP00000262435
    SRGNENSP000002424654STRING: ENSP00000242465
    TGFB3ENSP000002386824STRING: ENSP00000238682
    TIMP1ENSP000002183884STRING: ENSP00000218388
    UBA52ENSP000003881074STRING: ENSP00000388107
    UBBENSP000003046974STRING: ENSP00000304697
    UCHL5ENSP000003564254STRING: ENSP00000356425
    VEGFCENSP000002801934STRING: ENSP00000280193
    ADIPOQENSP000003207094STRING: ENSP00000320709
    ARHGEF18ENSP000003529954STRING: ENSP00000352995
    MED10ENSP000002557644STRING: ENSP00000255764
    MED11ENSP000002937774STRING: ENSP00000293777
    MED13ENSP000003808884STRING: ENSP00000380888
    MED13LENSP000002819284STRING: ENSP00000281928
    MED14ENSP000003237204STRING: ENSP00000323720
    MED16ENSP000003256124STRING: ENSP00000325612
    MED20ENSP000002653504STRING: ENSP00000265350
    MED24ENSP000003486104STRING: ENSP00000348610
    MED4ENSP000002586484STRING: ENSP00000258648
    MED6ENSP000002563794STRING: ENSP00000256379
    MED7ENSP000002863174STRING: ENSP00000286317
    MED8ENSP000002906634STRING: ENSP00000290663
    MED9ENSP000002687114STRING: ENSP00000268711
    PPP1R15AENSP000002004534STRING: ENSP00000200453
    SLC2A4ENSP000003209354STRING: ENSP00000320935
    USP15ENSP000002581234STRING: ENSP00000258123
    CLEC4MENSP000003162284STRING: ENSP00000316228
    ENSG00000183748ENSP000003321244STRING: ENSP00000332124
    INHBAENSP000002422084STRING: ENSP00000242208
    INHBBENSP000002952284STRING: ENSP00000295228
    INHBCENSP000003087164STRING: ENSP00000308716
    INHBEENSP000002666464STRING: ENSP00000266646
    LEFTY1ENSP000002721344STRING: ENSP00000272134
    LEFTY2ENSP000003557854STRING: ENSP00000355785
    MRC2ENSP000003075134STRING: ENSP00000307513
    NOS2ENSP000003272514STRING: ENSP00000327251
    PLA2R1ENSP000002832434STRING: ENSP00000283243
    VIMENSP000002242374STRING: ENSP00000224237
    LRRC32ENSP000002600614STRING: ENSP00000260061
    PZPENSP000002613364STRING: ENSP00000261336
    PARD6AENSP000002192554STRING: ENSP00000219255
    ACVR2BENSP000003403614STRING: ENSP00000340361
    ACVR2AENSP000002414164STRING: ENSP00000241416
    UBCENSP000003448184STRING: ENSP00000344818
    KRT1ENSP000002522444STRING: ENSP00000252244
    KRT2ENSP000003108614STRING: ENSP00000310861
    KRT5ENSP000002522424STRING: ENSP00000252242
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 161):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation IDA--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0000165MAPK cascade IMP--
    GO:0001657ureteric bud development IEA--
    GO:0001666response to hypoxia IEA--

    TGFB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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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 TGFB1

    1 DrugBank Compound for TGFB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HyaluronidaseHYAL-1 (see all 5)488712-31-8targetinhibitor9850732 11327694 7648625 9435505

    Selected Novoseek inferred chemical compound relationships for TGFB1 gene (see all 122)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tgf beta1 96.8 3587 11882926 (15), 12174377 (12), 9628655 (11), 16686283 (11) (see all 99)
    vegf 72.2 717 18048965 (8), 19180561 (8), 20193458 (7), 17088559 (7) (see all 99)
    procollagen 68.8 92 7717995 (6), 11040229 (4), 9401768 (2), 1900574 (2) (see all 53)
    thymidine 62.4 128 10786820 (4), 10420148 (3), 8856846 (2), 11330966 (2) (see all 90)
    glycosaminoglycan 55.7 59 1613437 (4), 2120082 (4), 15133980 (3), 19840848 (3) (see all 25)
    tranilast 55 32 9622270 (4), 19282654 (3), 11082441 (2), 16284627 (2) (see all 13)
    il 10 54.5 41 20404426 (3), 15367225 (3), 12668154 (3), 16287542 (2) (see all 24)
    cycloheximide 53 63 11032362 (3), 1655396 (1), 9145908 (1), 9537840 (1) (see all 48)
    pd 98,059 50.3 53 19862801 (3), 16598650 (2), 16547158 (2), 18346908 (2) (see all 35)
    rantes 50.2 73 10336000 (9), 16564576 (7), 10925048 (3), 11931377 (3) (see all 41)



    TGFB1 for compounds           About GeneDecksing



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

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    REFSEQ mRNAs for TGFB1 gene: 
    NM_000660.5  

    Unigene Cluster for TGFB1:

    Transforming growth factor, beta 1
    Hs.645227  [show with all ESTs]
    Unigene Representative Sequence: X02812
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598758 ENST00000221930(uc002oqh.2) ENST00000600196 ENST00000597453

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

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TGFB1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TGFB1:
    hsa-miR-663 hsa-miR-3180-3p hsa-miR-1908 hsa-miR-744
    SwitchGear 3'UTR luciferase reporter plasmidTGFB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TGFB1
    Predesigned siRNA for gene silencing in human, mouse, rat TGFB1
    Clone
    Products:
         
    OriGene clones in human, mouse for TGFB1 (see all 7)
    OriGene ORF clones in mouse, rat for TGFB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGFB1 (NM_000660)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFB1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TGFB1
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGFB1
      QuantiTect SYBR Green Assays in human, mouse, rat TGFB1
      QuantiFast Probe-based Assays in human, mouse, rat TGFB1

    Additional mRNA sequence: 

    AK291907.1 AK307742.1 AY820829.1 BC000125.1 BC001180.1 BC022242.1 BT007245.1 M38449.1 
    X02812.1 

    16 DOTS entries:

    DT.100797270  DT.95265833  DT.113054  DT.100833261  DT.95144033  DT.92410325  DT.92433717  DT.100031024 
    DT.100797272  DT.91811260  DT.99954228  DT.99961298  DT.92414144  DT.95265834  DT.100797271  DT.92466233 

    Selected AceView cDNA sequences (see all 334):

    CA423539 AI954807 BI818841 BM553137 BM681750 BM674987 BM717493 T28993 
    BF950318 BF223609 BQ675698 BQ003136 BQ576225 CA426391 BI031619 CR612251 
    BI029228 BM670402 BU632686 CA503085 BM555996 BE312000 BM469326 CR601792 

    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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    TGFB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGCTGTAT
    TGFB1 Expression
    About this image


    TGFB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 26) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 19 entries
             Hypertrophic Chondrocytes Rib
             Bone Marrow
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Cartilage (Muscoskeletal System)    fully expand to see all 10 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
     
     Tooth (Integumentary System)    fully expand to see all 8 entries
             Odontoblasts Dentin
             Dentin
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Blood (Cardiovascular System)    fully expand to see all 5 entries
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
             Bone marrow-derived mesenchymal stem cells and monocytes (Ixmyelocel-T)
    TGFB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGFB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.645227

    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
    Tissue specificity: Highly expressed in bone. Abundantly expressed in articular cartilage and chondrocytes and is
    increased in osteoarthritis (OA). Colocalizes with ASPN in chondrocytes within OA lesions of articular cartilage

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFB1 (see all 38): 
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TGFB1
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGFB1
    QuantiTect SYBR Green Assays in human, mouse, rat TGFB1
    QuantiFast Probe-based Assays in human, mouse, rat TGFB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFB1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for TGFB1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfb11 , 5 transforming growth factor, beta 11, 5 85.38(n)1
    89.65(a)1
      7 (13.98 cM)5
    218031  NM_011577.11  NP_035707.11 
     256870025 
    lizard
    (Anolis carolinensis)
    Reptilia TGFB16
    transforming growth factor, beta 1
    52(a)
    1 ↔ 1
    LGf(3763499-3801964)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tgfb11 transforming growth factor, beta 1 53.18(n)
    51(a)
      100498430  XM_002939387.2  XP_002939433.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5638841 transforming growth factor beta-1-like 53.16(n)
    48.52(a)
      563884  XM_687246.5  XP_692338.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta daw6
    dawdle
    15(a)
    1 → many
    2L(2805518-2812147)


    ENSEMBL Gene Tree for TGFB1 (if available)
    TreeFam Gene Tree for TGFB1 (if available)

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

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    Paralogs for TGFB1 gene
    GDF112  MSTN2  INHBE2  TGFB22  INHBB2  TGFB32  INHBC2  INHBA2  
    10 SIMAP similar genes for TGFB1 using alignment to 8 protein entries:     TGFB1_HUMAN (see all proteins):
    DKFZp686A06204    BMP4    BMP2    BMP6    BMP7    BMP8A
    GDF8    TGFB2    TGFB3    BMP3

    TGFB1 for paralogs           About GeneDecksing



    (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)
    About This Section

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    Polymorphic Variants from UniProtKB/Swiss-Prot
    TGFB1_HUMAN, P01137: In post-menopausal Japanese women, the frequency of Leu-10 is higher in subjects with osteoporosis
    than in controls


    Selected SNPs for TGFB1 (see all 765)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0176094
    Camurati-Engelmann disease (CE)4--see VAR_0176092 R H mis40--------
    VAR_0176084
    Camurati-Engelmann disease (CE)4--see VAR_0176082 R C mis40--------
    VAR_0176114
    Camurati-Engelmann disease (CE)4--see VAR_0176112 C R mis40--------
    VAR_0176074
    Camurati-Engelmann disease (CE)4--see VAR_0176072 Y H mis40--------
    VAR_0673044
    Camurati-Engelmann disease (CE)4--see VAR_0673042 C R mis40--------
    VAR_0673034
    Camurati-Engelmann disease (CE)4--see VAR_0673032 C G mis40--------
    VAR_0176104
    Camurati-Engelmann disease (CE)4--see VAR_0176102 H D mis40--------
    rs18004721,2,,4
    C,F,Hnon-pathogenic142036126(-) GGCCAC/TCCCGC 2 T I mis1 ese329Minor allele frequency- T:0.02MN NA EU NS EA 15162
    rs72584451,2
    C,F,A,Hnon-pathogenic142043777(+) AAATTA/GGCCAG 1 -- int112Minor allele frequency- G:0.32NA EU WA CSA 110
    rs22417151,2
    C,F,A,Hnon-pathogenic142045148(-) GGTCCG/TGTTGC 1 -- int130Minor allele frequency- T:0.41EA NS NA WA CSA 4699

    HapMap Linkage Disequilibrium report for TGFB1 (41807492 - 41859831 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TGFB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911769CNV Loss21882294
    nsv521311CNV Gain19592680

    Human Gene Mutation Database (HGMD): TGFB1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGFB1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 190180   
    OMIM disorders: 131300  219700  
    UniProtKB/Swiss-Prot: TGFB1_HUMAN, P01137
  • Camurati-Engelmann disease (CE) [MIM:131300]: Autosomal dominant disorder characterized by hyperostosis
    and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain,
    muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis,
    hearing difficulties and loss of vision. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • Selected diseases for TGFB1 (see all 478):    
    About MalaCards
    communicating hydrocephalus    dacryoadenitis    vitreous disease    kidney hypertrophy
    cystic fibrosis lung disease, modifier of    camurati-engelmann disease    cystic fibrosis    cftr-related disorders
    peyronie's disease    peyronies disease    keloids    macular corneal dystrophy
    shprintzen-goldberg syndrome    craniodiaphyseal dysplasia    scleroderma    hypertrophic scars
    clonorchiasis    posterior urethral valves    posterior urethral valve    burn scar

    Selected diseases from the University of Copenhagen DISEASES database for TGFB1 (see all 38):
    Kidney disease     Pulmonary fibrosis     Ureteral disease     Hypersensitivity reaction type II disease
    Arthritis     Asthma     Breast cancer     Carcinoma
    Hereditary hemorrhagic telangiectasia     Eye disease     Diabetes mellitus     Hypertension
    Liver disease     Connective tissue disease     Pneumonia     Heart disease
    Prostate cancer     Colorectal cancer     Atherosclerosis     Camurati-Engelmann disease

    TGFB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for TGFB1 gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    renal fibrosis 78.6 59 19536084 (2), 15313011 (2), 19858036 (2), 18266088 (2) (see all 40)
    liver fibrosis 71.8 161 11412388 (6), 17456311 (5), 14642613 (5), 9727721 (5) (see all 75)
    camurati-engelmann disease 69.9 29 19654961 (2), 11810278 (2), 12493741 (2), 12843182 (1) (see all 15)
    necrosis 69.1 569 1587858 (2), 9633531 (2), 17622749 (2), 10417853 (2) (see all 99)
    scars hypertrophic 69.1 86 12560674 (5), 11955370 (5), 7963657 (4), 9682679 (4) (see all 34)
    diabetic nephropathies 67.6 106 16734145 (5), 12500218 (4), 8691733 (4), 17319955 (4) (see all 56)
    tumors 66.7 1477 12720300 (8), 9721065 (6), 18176914 (6), 11505481 (6) (see all 99)
    pulmonary fibrosis 66.3 67 11413354 (3), 18583319 (2), 8630262 (2), 9490651 (2) (see all 46)
    glomerulosclerosis 66.2 52 12417087 (3), 11728950 (2), 9052888 (2), 17494887 (2) (see all 40)
    keloid 66 134 11838050 (7), 12560674 (5), 12640331 (4), 11368663 (4) (see all 43)

    GeneTests: TGFB1
    GeneReviews: TGFB1
    Genetic Association Database (GAD): TGFB1
    Human Genome Epidemiology (HuGE) Navigator: TGFB1 (742 documents)
    Tumor Gene Database (TGDB): TGFB1

    Export disorders for TGFB1 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 TGFB1 gene, integrated from 10 sources (see all 6292):
    (articles sorted by number of sources associating them with TGFB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro. (PubMed id 12843182)1, 2, 4, 9 McGowan N.W.... Helfrich M.H. (J. Clin. Endocrinol. Metab. 2003)
    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. (J. Hum. Genet. 2002)
    3. Association of a polymorphism of the transforming growth factor-beta1 gene with genetic susceptibility to osteoporosis in postmenopausal Japanese women. (PubMed id 9783545)1, 2, 4, 9 Yamada Y.... Ikeda K. (J. Bone Miner. Res. 1998)
    4. [Effect of polymorphism of transforming growth factor beta1 gene on HBV-induced liver cirrhosis]. (PubMed id 16029542)1, 4, 9 Yang Z.X....Zhao W.J. (Zhonghua Yi Xue Za Zhi 2005)
    5. Transforming growth factor beta-1 and gene polymorphisms in oriental ankylosing spondylitis. (PubMed id 15479754)1, 4, 9 Howe H.S....Leung B.P. (Rheumatology (Oxford) 2005)
    6. TGF-beta1 genotype and phenotype in breast cancer and their associations with IGFs and patient survival. (PubMed id 18827819)1, 4, 9 Mu L....Yu H. (Br. J. Cancer 2008)
    7. Association between a TGFbeta1 promoter polymorphism and rhinosinusitis in aspirin-intolerant asthmatic patients. (PubMed id 16916603)1, 4, 9 Kim S.H....Park C.S. (Respir Med 2007)
    8. Serum levels and genetic variation of TGF-beta1 are not associated with Alzheimer's disease. (PubMed id 17986101)1, 4, 9 RodrA-guez-RodrA-guez E....Combarros O. (Acta Neurol. Scand. 2007)
    9. [The relationship between the gene polymorphism of TGF-beta1 and early renal injury in patients with essential hypertension, and the effect of the gene polymorphism of TGF- beta1 on the individual treatment with valsartan]. (PubMed id 17680535)1, 4, 9 Zhao C....Zhang Q.Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)
    10. TGFbeta1 haplotypes and asthma in Indian populations. (PubMed id 15753900)1, 4, 9 Nagpal K....Ghosh B. (J. Allergy Clin. Immunol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7040 HGNC: 11766 AceView: TGFB1 Ensembl:ENSG00000105329 euGenes: HUgn7040
    ECgene: TGFB1 Kegg: 7040 H-InvDB: TGFB1

    (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 TGFB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFB1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TGFB1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/TGF_beta_1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGFB1 gene:
    Search GeneIP for patents involving TGFB1

    Licensable Technologies for TGFB1 gene:
     Tufts University:  Use of miRNAs to selectively modulate TGF-beta/BMP signaling to treat TGF-beta/BMP mediated disorders
    GeneCards and IP:
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