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TGFBI Gene

protein-coding   GIFtS: 68
GCID: GC05P135364

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)
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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 GC05P135392 GC05P130553


(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 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 epithelial basement membrane corneal dystrophy, and corneal dystrophy avellino type. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   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 Chromatin IP Primers for TGFBI

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC05P135364:  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 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: BGH3_HUMAN, Q15582 (See protein sequence)
Recommended Name: Transforming growth factor-beta-induced protein ig-h3 precursor  
Size: 683 amino acids; 74681 Da
4 PDB 3D structures from and Proteopedia for TGFBI:
1X3B (3D)        2LTB (3D)        2LTC (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: 

  • Gamma-carboxyglutamate residues are formed by vitamin K dependent carboxylation. These residues are essential for
    the binding of calcium (By similarity)1
  • Glycosylation2 at Ser28
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_000349.1  
    ENSEMBL proteins: 
     ENSP00000416330   ENSP00000421540   ENSP00000423871   ENSP00000474155   ENSP00000421440  
     ENSP00000426589   ENSP00000423935   ENSP00000427137   ENSP00000306306  
    Reactome Protein details: Q15582

    TGFBI Human Recombinant Protein Products:

    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.

    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
    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

    TGFBI Assay Products:

    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)
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    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,
    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: 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:    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/body  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: Let us create your new Knockout/Knockin mouse model for TGFBI
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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-30a-5p (MIRT028431), hsa-mir-21-5p (MIRT001208), hsa-mir-16-5p (MIRT031494), hsa-mir-26b-5p (MIRT028995), hsa-mir-9-5p (MIRT006894)

    Block miRNA regulation of human, mouse, rat TGFBI using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for TGFBI
    Predesigned siRNA for gene silencing in human, mouse, rat TGFBI

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

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBI


    (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
    BGH3_HUMAN, Q15582: Secreted, extracellular space, extracellular matrix. Note=May be associated both with
    microfibrils and with the cell surface
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IEA--
    GO:0005886plasma membrane TAS--

    TGFBI 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 TGFBI About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    Amyloids0.68
    2TGF-beta/Smad Signaling
    TGF-beta/Smad Signaling
    3Disease
    Disease
    4Adhesion
    Adhesion

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    1 Reactome Pathway for TGFBI
        Amyloids



    TGFBI for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGFBI: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGFBI

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

    Selected Interacting proteins for TGFBI (Q155823 ENSP000004163304) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    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): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEP11866539
    GO:0002062chondrocyte differentiation IEA--
    GO:0007155cell adhesion IEA--
    GO:0007162negative regulation of cell adhesion TAS8024701
    GO:0007601visual perception IEA--

    TGFBI 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)
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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 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)



    TGFBI 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 )
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    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
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000442011(uc003lbf.4 uc003lbh.4 uc010jee.3) ENST00000504185
    ENST00000506699(uc003lbg.4 uc011cyb.2) ENST00000507018 ENST00000515433
    ENST00000508767 ENST00000509749 ENST00000604555 ENST00000514554 ENST00000509485
    ENST00000514242 ENST00000513497 ENST00000508076 ENST00000503087 ENST00000504411
    ENST00000305126
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TGFBI using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for TGFBI
    Predesigned siRNA for gene silencing in human, mouse, rat TGFBI
    Clone
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    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
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TGFBI
    OriGene qSTAR qPCR primer pairs in human, mouse for TGFBI
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TGFBI
      QuantiTect SYBR Green Assays in human, mouse, rat TGFBI
      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 

    Selected 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 

    Selected AceView cDNA sequences (see all 1663):

    AI697295 AI753585 BI835409 AI682678 AA923664 NM_000358 CR609674 AI289888 
    BQ935806 AI343573 AL546570 AI042130 BF569380 AI754681 AL545021 CR619547 
    CB118629 BQ892269 AI754703 AA877373 AA865647 BX355832 AW581149 BM557704 

    GeneLoc Exon Structure

    Selected 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™, 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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    TGFBI expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 27) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 7 entries
             Zeugopod Long Bone
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Chondrocytes Tracheal Cartilage
             Tracheal Cartilage
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Liver Bud
             Hepatocyte-like cells
    TGFBI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGFBI Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369397

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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TGFBI gene from Selected species (see all 16)    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 87.22(n)1
    91.21(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 77.54(n)
    79.57(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 more 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 mfas1 , 3 axonogenesis3
    midline fasciclin1
    22(a)3
    43(n)1
    26.67(a)1
      87A43
    414551  NM_176473.11  NP_788650.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F26E4.76
    Protein F26E4.7, isoform a (F26E4.7) mRNA, complet...
    16(a)
    1 → many
    I(9774207-9779541) WBGene00009162


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TGFBI (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
    ----------
    rs1219092121,2,,4
    CCorneal dystrophy, lattice type 3A (CDL3A)4 pathogenic1135669066(+) CCCCCA/C/TCAATG 2 T P mis11EU 577
    rs1219092171,2,,4
    CCorneal dystrophy, epithelial basement membrane (EBMD)4 pathogenic1135675970(+) CAGAGG/CTCTGT 2 /S /R mis11Minor allele frequency- C:0.00EU 537
    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--------

    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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGFBI
    DNA2.0 Custom Variant and Variant Library Synthesis for TGFBI

    (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.)
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    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

  • Selected diseases for TGFBI (see all 65):    
    About MalaCards
    epithelial basement membrane corneal dystrophy    corneal dystrophy avellino type    lattice corneal dystrophy type 3a    corneal dystrophy thiel behnke type
    groenouw type i corneal dystrophy    corneal deposit    lattice corneal dystrophy type 1    corneal dystrophy of bowman layer type 1
    lattice corneal dystrophy    amyloidosis corneal    recurrent corneal erosion    fuchs' endothelial dystrophy
    corneal dystrophy    corneal disease    hereditary hemorrhagic telangiectasia    loeys-dietz syndrome
    amyloidosis    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

    Selected 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)
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    PubMed articles for TGFBI gene, integrated from 10 sources (see all 298):
    (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. (Am. J. Ophthalmol. 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. (Arch. Ophthalmol. 2000)
    3. Mutation hot spots in 5q31-linked corneal dystrophies. (PubMed id 9463327)1, 2, 3, 9 Korvatska E.... Schorderet D.F. (Am. J. Hum. Genet. 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. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 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. (Am. J. Ophthalmol. 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. (Exp. Eye Res. 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. (DNA Cell Biol. 1992)
    8. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. (PubMed id 9780098)1, 2, 9 Okada M.... Tano Y. (Am. J. Ophthalmol. 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. (Am. J. Ophthalmol. 2004)
    10. Corneal dystrophies in Japan. (PubMed id 11501939)1, 2, 9 Fujiki K.... Kanai A. (J. Hum. Genet. 2001)

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

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

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

    (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 TGFBI Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TGFBI Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TGFBI[genesymbol]
    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.)
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    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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