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

TGFBI Gene

protein-coding   GIFtS: 68
GCID: GC05P135392

Transforming Growth Factor, Beta-Induced, 68kDa

(Previous names: transforming growth factor, beta-induced, 68kD)
(Previous symbols: CSD3, LCD1, CSD1, CSD2)
  See 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)
About This Section

Aliases
Transforming Growth Factor, Beta-Induced, 68kDa1 2     CDG22 5
CSD21 2 5     CDGG12 5
BIGH32 3 5     CSD2 5
CSD11 2     EBMD2 5
CSD31 2     Transforming Growth Factor, Beta-Induced, 68kD1
LCD11 2     CDB12
Beta Ig-H32 3     kerato-epithelin2
RGD-CAP2 3     Transforming Growth Factor-Beta-Induced Protein Ig-H32
RGD-Containing Collagen-Associated Protein2 3     Kerato-epithelin3

External Ids:    HGNC: 117711   Entrez Gene: 70452   Ensembl: ENSG000001207087   OMIM: 6016925   UniProtKB: Q155823   

Export aliases for TGFBI gene to outside databases

Previous GC identifers: GC05P135240 GC05P136027 GC05P135395 GC05P135440 GC05P130553


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TGFBI Gene:
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in
many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for
several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial
bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell
adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. (provided by RefSeq,
Jul 2008)

GeneCards Summary for TGFBI Gene: 
TGFBI (transforming growth factor, beta-induced, 68kDa) is a protein-coding gene. Diseases associated with TGFBI include lattice corneal dystrophy, and lattice corneal dystrophy type 1, and among its related super-pathways are Packaging Of Telomere Ends. GO annotations related to this gene include integrin binding and extracellular matrix binding. An important paralog of this gene is POSTN.

UniProtKB/Swiss-Prot: BGH3_HUMAN, Q15582
Function: Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen
interactions. In cartilage, may be involved in endochondral bone formation

Gene Wiki entry for TGFBI 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TGFBI gene promoter:
         STAT5B   ISGF-3   SREBP-1c   NF-AT   NF-AT4   NF-AT2   SEF-1 (1)   NF-AT3   ZID   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTGFBI promoter sequence
   Search SABiosciences Chromatin IP Primers for TGFBI

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


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

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P135392:  view genomic region     (about GC identifiers)

Start:
135,364,584 bp from pter      End:
135,399,507 bp from pter
Size:
34,924 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BGH3_HUMAN, Q15582 (See protein sequence)
Recommended Name: Transforming growth factor-beta-induced protein ig-h3 precursor  
Size: 683 amino acids; 74681 Da
Subcellular location: Secreted, extracellular space, extracellular matrix. Note=May be associated both with
microfibrils and with the cell surface
2 PDB 3D structures from and Proteopedia for TGFBI:
1X3B (3D)        2VXP (3D)    
Secondary accessions: D3DQB1 O14471 O14472 O14476 O43216 O43217 O43218 O43219 Q53XM1

Explore the universe of human proteins at neXtProt for TGFBI: NX_Q15582

Explore proteomics data for TGFBI at MOPED 

Post-translational modifications:

  • UniProtKB: Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for
    the binding of calcium (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15582

  • TGFBI Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TGFBI Protein Expression
    REFSEQ proteins: NP_000349.1  
    ENSEMBL proteins: 
     ENSP00000416330   ENSP00000426137   ENSP00000421540   ENSP00000423871   ENSP00000474155  
     ENSP00000421440   ENSP00000426589   ENSP00000423935   ENSP00000427137   ENSP00000306306  
    Reactome Protein details: Q15582
    Human Recombinant Protein Products for TGFBI: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TGFBI (beta IG-H3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TGFBI
    OriGene Protein Over-expression Lysate for TGFBI
    OriGene MassSpec for TGFBI 
    OriGene Custom Protein Services for TGFBI
    GenScript Custom Purified and Recombinant Proteins Services for TGFBI
    Novus Biologicals TGFBI Proteins
    Novus Biologicals TGFBI Lysates
    Sino Biological Recombinant Protein for TGFBI
    Sino Biological Cell Lysate for TGFBI 
    ProSpec Recombinant Protein for TGFBI
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--
    GO:0031012colocalizes with extracellular matrix ISS--

    TGFBI for ontologies           About GeneDecksing



    TGFBI Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for TGFBI (beta IG-H3)
    Cell Signaling Technology (CST) Antibodies for TGFBI  (betaIG-H3)
    OriGene Antibodies for TGFBI
    OriGene Custom Antibody Services for TGFBI
    GenScript Custom Superior Antibodies Services for TGFBI
    Novus Biologicals TGFBI Antibodies
    Abcam antibodies for TGFBI
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for TGFBI
    LSBio Antibodies in human, mouse, rat for TGFBI 

    Assay Products for TGFBI: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TGFBI
    R&D Systems ELISAs for TGFBI (beta IG-H3)         (see all)
    GenScript Custom Assay Services for TGFBI
    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    3 InterPro protein domains:
     IPR011489 EMI_domain
     IPR016666 TGFb-ind_bIGH3/osteoblast_fac2
     IPR000782 FAS1_domain

    Graphical View of Domain Structure for InterPro Entry Q15582

    ProtoNet protein and cluster: Q15582

    2 Blocks protein domains:
    IPB000782 Beta-Ig-H3/Fasciclin domain
    IPB011489 EMI


    UniProtKB/Swiss-Prot: BGH3_HUMAN, Q15582
    Similarity: Contains 1 EMI domain
    Similarity: Contains 4 FAS1 domains


    TGFBI 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BGH3_HUMAN, Q15582
    Function: Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen
    interactions. In cartilage, may be involved in endochondral bone formation
    Induction: By TGFB1

         Genatlas biochemistry entry for TGFBI:
    transforming growth factor B induced gene,keratoepithelin,expressed predominantly on the external surface of
    corneal epithelial cells,mutated in corneal dystrophies,major component of abnormal deposits

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding TAS1388724
    GO:0005515protein binding ----
    GO:0050840extracellular matrix binding IEA--
         
    TGFBI for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TGFBI:
     Increased HPV18 LCR reporter a  Increased S DNA content 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tgfbi):
     cellular  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  tumorigenesis 

    TGFBI for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tgfbitm1Zhao for TGFBI

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TGFBI 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TGFBI

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target TGFBI:
    hsa-mir-21 (MIRT001208)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBI
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBI (see all 9):
    hsa-miR-595 hsa-miR-520d-5p hsa-miR-619 hsa-miR-766 hsa-miR-21 hsa-miR-590-5p hsa-miR-9 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidTGFBI 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TGFBI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBI

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TGFBI
    Sirion Biotech Customized adenovirus for overexpression of TGFBI

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TGFBI (see all 7)
    OriGene ORF clones in mouse, rat for TGFBI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGFBI (NM_000358)
    Sino Biological Human cDNA Clone for TGFBI
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFBI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBI
    Sirion Biotech Customized lentivirus for stable overexpression of TGFBI 
                         Customized lentivirus expression plasmids for stable overexpression of TGFBI 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for TGFBI
    Search LifeMap BioReagents cell lines for TGFBI
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBI


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TGFBI About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Amyloids0.41
    2TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    3Adhesion
    Adhesion
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for TGFBI
        Adhesion
    TGF-beta/Smad Signaling


    2        Reactome Pathways for TGFBI
        Amyloids
    Disease



    TGFBI for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGFBI

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

    5/38 Interacting proteins for TGFBI (Q155823 ENSP000004163304) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FN1P027513, ENSP000003468394I2D: score=3 STRING: ENSP00000346839
    COL1A1P024523, ENSP000002259644I2D: score=2 STRING: ENSP00000225964
    COL4A4P534203, ENSP000003798664I2D: score=1 STRING: ENSP00000379866
    COL2A1P024583, ENSP000003698894I2D: score=2 STRING: ENSP00000369889
    COL1A2P081233, ENSP000002972684I2D: score=2 STRING: ENSP00000297268
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEP11866539
    GO:0007155cell adhesion IEA--
    GO:0007162negative regulation of cell adhesion TAS8024701
    GO:0007601visual perception IEA--
    GO:0008283cell proliferation TAS1388724

    TGFBI for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TGFBI for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TGFBI (BGH3)

    1 HMDB Compound for TGFBI    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    9 Novoseek inferred chemical compound relationships for TGFBI gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arginine 32 6 15059726 (1), 11413411 (1), 14597039 (1), 16888689 (1) (see all 5)
    histidine 26.4 3 15059726 (1), 16888689 (1)
    phenylalanine 0 1 15790870 (1)
    leucine 0 2 11413411 (1), 14597039 (1)
    guanine 0 2 16888689 (1)
    serine 0 2 15559315 (1), 15790870 (1)
    cysteine 0 3 15013897 (1), 15239838 (1)
    adenine 0 2 16888689 (1)
    glutamine 0 1 10554552 (1)

    Search CenterWatch for drugs/clinical trials and news about TGFBI / BGH3

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TGFBI gene: 
    NM_000358.2  

    Unigene Cluster for TGFBI:

    Transforming growth factor, beta-induced, 68kDa
    Hs.369397  [show with all ESTs]
    Unigene Representative Sequence: NM_000358
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442011(uc003lbf.4 uc003lbh.4 uc010jee.3) ENST00000504205
    ENST00000504185 ENST00000506699(uc003lbg.4 uc011cyb.2) ENST00000507018
    ENST00000515433 ENST00000508767 ENST00000509749 ENST00000604555 ENST00000514554
    ENST00000509485 ENST00000514242 ENST00000513497 ENST00000508076 ENST00000503087
    ENST00000504411 ENST00000305126
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TGFBI
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate TGFBI (see all 9):
    hsa-miR-595 hsa-miR-520d-5p hsa-miR-619 hsa-miR-766 hsa-miR-21 hsa-miR-590-5p hsa-miR-9 hsa-miR-524-5p
    SwitchGear 3'UTR luciferase reporter plasmidTGFBI 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TGFBI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBI
    Clone
    Products:
         
    OriGene clones in human, mouse for TGFBI (see all 7)
    OriGene ORF clones in mouse, rat for TGFBI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TGFBI (NM_000358)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGFBI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGFBI
    Sirion Biotech Customized lentivirus for stable overexpression of TGFBI 
                         Customized lentivirus expression plasmids for stable overexpression of TGFBI 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TGFBI
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFBI
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TGFBI
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TGFBI
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TGFBI

    Additional mRNA sequence: 

    AK093916.1 AK094055.1 AK094581.1 AK222833.1 AK298603.1 AK303643.1 BC000097.2 BC004972.1 
    BT009820.1 M77349.1 

    24/71 DOTS entries (see all 71):

    DT.95252770  DT.100039347  DT.91657329  DT.91955900  DT.102839374  DT.120844344  DT.120844331  DT.120844299 
    DT.95234070  DT.102839386  DT.100758803  DT.100883011  DT.95368631  DT.102839389  DT.100883006  DT.95368513 
    DT.100882991  DT.95368556  DT.91839904  DT.91787171  DT.99993841  DT.120844266  DT.320377  DT.102839375 

    24/1663 AceView cDNA sequences (see all 1663):

    AI697295 BM762582 AA071134 CF127483 AI346799 BQ020334 BP374663 AI357303 
    AA071169 AA923664 AI752991 BQ935806 AI687056 BG420652 BP344057 CA306047 
    CF127905 AI829210 AI042130 CO393298 AI590923 AI753010 BG677678 BM694613 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for TGFBI (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^
    SP1:                          -                       -           -     -                 -     -                       -           -                           
    SP2:                          -                       -           -     -                                                           -                           
    SP3:                          -                       -           -     -                       -                       -           -                           
    SP4:                                                              -     -                 -     -                       -                                       
    SP5:                          -                       -           -     -                 -     -                                                               

    ExUns: 13a · 13b ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19a · 19b
    SP1:        -     -                 -     -                                 
    SP2:        -     -                 -     -                                 
    SP3:        -     -                 -     -                                 
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for TGFBI

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    TGFBI expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 13 entries
             Zeugopod Long Bone
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 9 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
             sensory organ/ear/inner ear   
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
             Metanephros
             visceral organ/metanephros/renal medulla   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 6 entries
             Ureter
             visceral organ   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
             skeleton/cranium/chondrocranium   

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

    SOURCE GeneReport for Unigene cluster: Hs.369397

    UniProtKB/Swiss-Prot: BGH3_HUMAN, Q15582
    Tissue specificity: Highly expressed in the corneal epithelium

        SABiosciences Expression via Pathway-Focused PCR Arrays including TGFBI: 
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              TGFB/BMP Signaling Pathway 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TGFBI gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgfbi1 , 5 transforming growth factor, beta induced1, 5 86.97(n)1
    90.63(a)1
      13 (30.09 cM)5
    218101  NM_009369.41  NP_033395.11 
     566096035 
    chicken
    (Gallus gallus)
    Aves TGFBI1 transforming growth factor, beta-induced, 68kDa 77.33(n)
    79.43(a)
      395897  NM_205036.1  NP_990367.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGFBI6
    transforming growth factor, beta-induced, 68kDa
    72(a)
    1 ↔ 1
    GL343223.1(1465840-1531972)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.15872 Xenopus laevis transcribed sequence with moderate similarity to protein pirI52996 (H.sapiens) I52996 transforming growth factor beta-induced protein BIGH3 precursor - human less 77.48(n)    BJ063025.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tgfbi2 transforming growth factor, beta-induced 74.06(n)   321421  AB086407.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mfas3 axonogenesis 22(a)   87A4   --
    worm
    (Caenorhabditis elegans)
    Secernentea F26E4.76
    Protein F26E4.7, isoform a
    15(a)
    1 → many
    I(9774207-9779541)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TGFBI gene
    POSTN2  
    1 SIMAP similar gene for TGFBI using alignment to 10 protein entries:     BGH3_HUMAN (see all proteins):
    POSTN

    TGFBI 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/911 SNPs in TGFBI are shown (see all 911)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0315394
    Corneal dystrophy, lattice type 1 (CDL1)4--see VAR_0315392 A D mis40--------
    VAR_0050834
    Corneal dystrophy, Groenouw type 1 (CDGG1)4--see VAR_0050832 R W mis40--------
    VAR_0315434
    Corneal dystrophy, lattice type 1 (CDL1)4--see VAR_0315432 H R mis40--------
    VAR_0315364
    Corneal dystrophy, epithelial basement membrane (EBMD)4--see VAR_0315362 L R mis40--------
    VAR_0315414
    Corneal dystrophy, lattice type 1 (CDL1)4--see VAR_0315412 L R mis40--------
    VAR_0315354
    Corneal dystrophy, lattice type 1 (CDL1)4--see VAR_0315352 V D mis40--------
    VAR_0315404
    Corneal dystrophy, lattice type 1 (CDL1)4--see VAR_0315402 P Q mis40--------
    VAR_0184844
    Corneal dystrophy, lattice type 1 (CDL1)4--see VAR_0184842 L R mis40--------
    VAR_0315384
    Corneal dystrophy, lattice type 3A (CDL3A)4--see VAR_0315382 F S mis40--------
    VAR_0124484
    Corneal dystrophy, lattice type 3A (CDL3A)4--see VAR_0124482 A T mis40--------

    HapMap Linkage Disequilibrium report for TGFBI (135364584 - 135399507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TGFBI:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1853e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): TGFBI
    SABiosciences Cancer Mutation PCR Assays
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    (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
    OMIM gene information: 601692   
    OMIM disorders: 121900  122200  608470  607541  608471  602082  121820  
    UniProtKB/Swiss-Prot: BGH3_HUMAN, Q15582
  • Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]: A bilateral anterior corneal
    dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or
    microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and
    intraepithelial lacunae filled with cellular debris. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]: A rare form of stromal corneal dystrophy
    characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual
    impairment. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]: A form of lattice corneal dystrophy, a class of
    inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is
    characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating,
    elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent
    corneal ulceration sometimes occurs. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]: A bilateral disorder of the cornea
    characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea
    characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in
    childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease
    of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and
    superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including
    disoriented collagen fibrils. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]: A form of lattice corneal dystrophy, a class of
    inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is
    characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and
    accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically
    resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an
    autosomal dominant inheritance pattern. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Corneal dystrophy, Avellino type (CDA) [MIM:607541]: A corneal disease resulting in reduced visual acuity
    and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal
    button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal
    dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and
    decreased night vision. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/60 diseases for TGFBI (see all 60):    About MalaCards
    lattice corneal dystrophy    lattice corneal dystrophy type 1    epithelial basement membrane corneal dystrophy    groenouw type i corneal dystrophy
    corneal dystrophy avellino type    lattice corneal dystrophy type 3a    corneal dystrophy thiel behnke type    corneal deposit
    corneal dystrophy of bowman layer type 1    recurrent corneal erosion    amyloidosis corneal    corneal disease
    corneal dystrophy    fuchs' endothelial dystrophy    hereditary hemorrhagic telangiectasia    amyloidosis
    loeys-dietz syndrome    gastrointestinal system disease    systemic scleroderma    retinal detachment

    3 diseases from the University of Copenhagen DISEASES database for TGFBI:
    Corneal dystrophy     Keratoconus     Recurrent corneal erosion

    TGFBI for disorders           About GeneDecksing

    10/23 Novoseek inferred disease relationships for TGFBI gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    avellino corneal dystrophy 98.2 22 18332318 (2), 14767905 (2), 16380889 (2), 12610836 (1) (see all 18)
    corneal dystrophy 97.8 134 14767905 (6), 11685063 (4), 17768377 (3), 18001570 (3) (see all 73)
    lattice corneal dystrophy 97.6 52 16541014 (3), 15531312 (3), 12770961 (2), 11413411 (2) (see all 34)
    granular dystrophy corneal 97.2 25 9930165 (4), 15377440 (2), 14767905 (2), 15623763 (2) (see all 16)
    corneal dystrophy, lattice type i 96.4 24 10482106 (4), 14597039 (2), 18470323 (2), 9860011 (2) (see all 13)
    stromal dystrophies corneal 95.8 9 19062536 (2), 11262611 (1), 18079684 (1), 9399907 (1) (see all 7)
    cdgg1 94.7 7 17063427 (2), 18752451 (1), 16606891 (1), 10660331 (1) (see all 5)
    amyloidosis, corneal 94.5 14 9860011 (4), 11004271 (2), 17982422 (1), 16453189 (1) (see all 9)
    corneal dystrophies hereditary 91.4 6 10476785 (1), 15179309 (1), 9930162 (1), 15564760 (1)
    corneal deposit 88.8 6 11262611 (1), 11476689 (1), 15019320 (1), 9930162 (1)

    Genetic Association Database (GAD): TGFBI
    Human Genome Epidemiology (HuGE) Navigator: TGFBI (10 documents)

    Export disorders for TGFBI gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TGFBI gene, integrated from 9 sources (see all 294):
    (articles sorted by number of sources associating them with TGFBI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. (PubMed id 11024425)1, 2, 4, 9 Mashima Y.... Kinoshita S. (2000)
    2. A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and deltaT125-deltaE126. (PubMed id 10865320)1, 2, 4, 9 Dighiero P....Valleix S. (2000)
    3. Mutation hot spots in 5q31-linked corneal dystrophies. (PubMed id 9463327)1, 2, 3, 9 Korvatska E.... Schorderet D.F. (1998)
    4. [Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies] (PubMed id 14767905)1, 4, 9 Jin T....Lu L. (2004)
    5. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. (PubMed id 14597039)1, 2, 9 Warren J.F....Margolis T.P. (2003)
    6. Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype-phenotype correlations. (PubMed id 19303004)1, 4, 9 Zenteno J.C....Villanueva-Mendoza C. (2009)
    7. cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. (PubMed id 1388724)1, 2, 9 Skonier J....Purchio A.F. (1992)
    8. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. (PubMed id 9780098)1, 2, 9 Okada M.... Tano Y. (1998)
    9. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. (PubMed id 15531312)1, 2, 9 Aldave A.J.... Klintworth G.K. (2004)
    10. Corneal dystrophies in Japan. (PubMed id 11501939)1, 2, 9 Fujiki K.... Kanai A. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7045 HGNC: 11771 AceView: TGFBI Ensembl:ENSG00000120708 euGenes: HUgn7045
    ECgene: TGFBI H-InvDB: TGFBI

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TGFBI Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFBI Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBI
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgfbi/

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

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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