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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)
 Explore 59 diseases affiliated with
TGFBI via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TGFBI    

Aliases
for TGFBI gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transforming Growth Factor, Beta-Induced, 68kDa1 2     RGD-CAP2 3
BIGH31 2 3 5     RGD-Containing Collagen-Associated Protein2 3
CDGG11 2 5     CDG22 5
CSD21 2 5     CSD2 5
CDB11 2     EBMD2 5
CSD11 2     Transforming Growth Factor, Beta-Induced, 68kD1
CSD31 2     Kerato-Epithelin1
LCD11 2     Transforming Growth Factor-Beta-Induced Protein Ig-H32
Beta Ig-H32 3     Kerato-Epithelin1

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


Summaries
for TGFBI gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  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 plasmid: TGFBI 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

Proteins
for TGFBI gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15582

    • TGFBI Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000349.1  
    ENSEMBL proteins: 
     ENSP00000416330   ENSP00000426137   ENSP00000421540   ENSP00000423871   ENSP00000421440  
     ENSP00000426589   ENSP00000423935   ENSP00000427137   ENSP00000306306  
    Reactome Protein details: Q15582
    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: TGFBI
    OriGene Protein Over-expression Lysate: 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
    ProSpec Recombinant Protein for TGFBI
    Browse Proteins at Uscn

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

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


    TGFBI for ontologies           About GeneDecksing



    TGFBI Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals TGFBI Antibodies
    Abcam antibodies for TGFBI 
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    ThermoFisher Antibody for TGFBI

    Assay Products for TGFBI: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    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 and CLIAs at Uscn

    Protein Domains /
    Families
    for TGFBI gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TGFBI for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB000782 Beta-Ig-H3/Fasciclin domain
    IPB011489 EMI


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


    Function
    for TGFBI gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

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

    OriGene 3'-UTR Clone: TGFBI
    Browse MicroRNA Expression Plasmids
    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 plasmid: TGFBI 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFBI (see all 4)
    OriGene shRNA RFP: TGFBI
    OriGene siRNA: TGFBI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBI

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TGFBI (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
    Search LifeMap BioReagents cell lines for TGFBI

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGFBI

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding TAS1388724
    GO:0050840extracellular matrix binding IEA--


    TGFBI for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Tgfbitm1Zhao for TGFBI
         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


    Pathways & Interactions
    for TGFBI gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Amyloid precursor proteins form ordered fibrils
    		Amyloid precursor proteins form ordered fibrils1.00
    		Amyloids0.43
    2TGF-beta/Smad Signaling
    		TGF-beta/Smad Signaling1.00
    3Adhesion
    		Adhesion1.00
    4Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for TGFBI
        Amyloids
    Amyloid precursor proteins form ordered fibrils
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

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


    TGFBI for ontologies           About GeneDecksing



    Drugs & Compounds
    for TGFBI gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

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

    Transcripts
    for TGFBI gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, 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
    16 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 ENST00000514554 ENST00000509485
    ENST00000514242 ENST00000513497 ENST00000508076 ENST00000503087 ENST00000504411
    ENST00000305126

    miRNA
    Products:             		 OriGene 3'-UTR Clone: TGFBI
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: TGFBI 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGFBI (see all 4)
    OriGene shRNA RFP: TGFBI
    OriGene siRNA: TGFBI
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGFBI
    Clone
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    GenScript: all cDNA clones in your preferred vector: TGFBI (NM_000358)
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    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    AK094055 AA627863 AI419418 BQ477859 CR590452 AA071134 BM721817 AI940541 
    AI590923 BQ272337 AI754703 BQ917510 CR609674 AI829210 AA599657 AA857136 
    AI300781 CF128677 AI357302 BG679649 BE049566 BI833516 BP344057 AA071128 

    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

    Expression
    for TGFBI gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGTGTTTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TGFBI expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/26 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 26) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartEndocardiumCushion Mesenchymal CellsEndocardium
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    LungTracheal CartilageChondrocytesLung
    PancreasDorsal Pancreatic BudImmature Beta Progenitor CellsPancreas
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
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    Orthologs
    for TGFBI gene

    (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 6/18 species (see all 18)    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
    		 --
    		 74(a)
    		 1 ↔ 1
    		 GL343223.1(1466043-1524533)
    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 mfas3 axonogenesis 22(a)   87A4   --


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

    Paralogs
    for TGFBI gene

    (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



    Genomic Variants
    for TGFBI gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/683 NCBI SNPs in TGFBI are shown (see all 683)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219092171,2
    		C,pathogenic137366603(+) CAGAGG/CTCTGT 2 /S /R mis11Minor allele frequency- C:0.00EU 537
    rs1219092121,2
    		C,pathogenic137373506(+) CCCCCC/ACAATG 2 /T /P mis11Minor allele frequency- A:0.00EU 577
    rs1219092111,2
    		Cpathogenic137382868(+) GGACCA/G/TCACGG 3 H R L mis10--------
    rs1219092101,2
    		Cpathogenic137382869(+) CGGACA/C/TGCACG 3 S R C mis10--------
    rs455024981,2
    		C,F,--130551764(+) CCTTGA/TCTCTC 1 -- us2k12Minor allele frequency- T:0.03NS WA 296
    rs20735071,2
    		C,F,H,--130552025(+) TTCTTC/TCCTAC 1 -- us2k1 trp35Minor allele frequency- T:0.03EA NS 1920
    rs454590971,2
    		C,--130552300(+) CCCCAG/CGGCTA 1 -- us2k11Minor allele frequency- C:0.01NS 178
    rs589730111,2
    		C,F,--130552315(+) TGCCAA/GGTAAC 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs454783951,2
    		C,--130552704(+) GGTGTT/CCTGGG 1 -- us2k11Minor allele frequency- C:0.01NS 180
    rs456187371,2
    		C,--130552867(+) CCTAAG/CGGACC 1 -- us2k11Minor allele frequency- C:0.01NS 170

    HapMap Linkage Disequilibrium report for TGFBI (135364584 - 135399507 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TGFBI
         1 CNV: 3577
    Human Gene Mutation Database (HGMD): TGFBI

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    Disorders / Diseases
    for TGFBI gene

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

    OMIM gene information: 601692   
    OMIM disorders: 121900  122200  608470  607541  608471  602082  121820  
    UniProtKB/Swiss-Prot: BGH3_HUMAN, Q15582
  • Defects in TGFBI are the cause of epithelial basement membrane corneal dystrophy (EBMD) [MIM:121820]; also
    • known as Cogan corneal dystrophy or map-dot-fingerprint type corneal dystrophy. EBMD is 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. Although this disorder usually is not considered to be inherited, families with autosomal
    dominant inheritance have been identified
  • Defects in TGFBI are the cause of corneal dystrophy Groenouw type 1 (CDGG1) [MIM:121900]; also known as
    • corneal dystrophy granular type. Inheritance is autosomal dominant. Corneal dystrophies show progressive opacification
    of the cornea leading to severe visual handicap
  • Defects in TGFBI are the cause of corneal dystrophy lattice type 1 (CDL1) [MIM:122200]. Inheritance is
    • autosomal dominant
  • Defects in TGFBI are a cause of corneal dystrophy Thiel-Behnke type (CDTB) [MIM:602082]; also known as corneal
    • dystrophy of Bowman layer type 2 (CDB2)
  • Defects in TGFBI are the cause of Reis-Buecklers corneal dystrophy (CDRB) [MIM:608470]; also known as corneal
    • dystrophy of Bowman layer type 1 (CDB1)
  • Defects in TGFBI are the cause of lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]. 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
  • Defects in TGFBI are the cause of 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

    20/59 diseases for TGFBI (see all 59):    About MalaCards
    corneal dystrophy    corneal dystrophy thiel behnke type    lattice corneal dystrophy    corneal dystrophy of bowman layer type 1
    corneal dystrophy avellino type    lattice corneal dystrophy type iiia    lattice corneal dystrophy type 3a    epithelial basement membrane corneal dystrophy
    groenouw type i corneal dystrophy    lattice corneal dystrophy type 1    loeys-dietz syndrome    corneal deposit
    recurrent corneal erosion    graft versus host disease    amyloidosis corneal    hereditary hemorrhagic telangiectasia
    clear cell renal cell carcinoma    type 2 diabetes mellitus    proliferative vitreoretinopathy    renal clear cell carcinoma

    17 diseases from the University of Copenhagen DISEASES database for TGFBI:
    Corneal dystrophy     Kidney disease     Lung disease     Systemic scleroderma
    Hereditary hemorrhagic telangiectasia     Arthritis     Ureteral disease     Breast cancer
    Hypertension     Carcinoma     Diabetes mellitus     Liver disease
    Prostate cancer     Malignant glioma     Atherosclerosis     Proliferative vitreoretinopathy
    Heart disease

    10/23 Novoseek 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

    Publications
    for TGFBI gene

    (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 287):
    (articles sorted by number of sources associating them with TGFBI)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Mutation hot spots in 5q31-linked corneal dystrophies. (PubMed id 9463327)1, 2, 3, 9 Korvatska E.... Schorderet D.F. (1998)
    3. [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)
    4. 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)
    5. 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)
    6. Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy. (PubMed id 9780098)1, 2, 9 Okada M.... Tano Y. (1998)
    7. 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)
    8. Corneal dystrophies in Japan. (PubMed id 11501939)1, 2, 9 Fujiki K.... Kanai A. (2001)
    9. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. (PubMed id 15790870)1, 2, 9 Stix B.... Roecken C. (2005)
    10. Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene. (PubMed id 11413411)1, 2, 9 Hirano K.... Yamamoto N. (2001)

    External Searches for TGFBI gene

    (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)

    Genome Databases showing TGFBI gene

    (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

    Other Databases showing TGFBI gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TGFBI gene

    (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/

    Intellectual Property
    for TGFBI gene

    (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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