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FLASH GENE
Symbol TGFBI contributors: mct/npt/pgu/shn - updated : 21-05-2012
HGNC name transforming growth factor, beta-induced, 68kDa
HGNC id 11771
Corresponding disease
CDGG1 Groenouw type 1, granular corneal dystrophy
CDL3A corneal dystrophy, lattice type IIIA
CSD3 corneal dystrophy 3, Avellino type
CSD4 corneal dystrophy 4, granular, Reis-Buckler type
CSD5 corneal dystrophy 5, lattice type I
EBMD1 corneal dystrophy, epithelial basement membrane 1
Location 5q31.1      Physical location : 135.364.583 - 135.399.506
Synonym name
  • transforming growth factor, beta-induced, 68kD
  • transforming growth factor-beta-induced protein ig-h3
  • beta ig-h3
  • p68 beta ig-h3
  • beta ig-h3 protein/ betaig-h3
  • kerato-epithelin
  • RGD-containing collagen-associated protein
  • 66-kDa collagen fiber-associated protein
    • Synonym symbol(s) BIGH3, CDGG1, LCD1, MP78/70, RGD-CAP, LCD1, CSD1, CSD2, CSD3, CDB1, CDG2, CSD, EBMD, RGD-CAP
    DNA
    TYPE functioning gene
    STRUCTURE 34.92 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • induced by KLF10, transactivated by KLF10 cell type-specific manner
  • promoter activity was increased when Sp1 or Sp3 factors was overexpressed
    • MAPPING cloned Y linked Y status confirmed
    Map cen - D5S2115 - D5S816 - TGFBI - D5S393 - D5S399 - qter
    Physical map
    FLJ37562 5q31.2 hypothetical protein FLJ37562 FLJ22625 5q31.2 hypothetical protein FLJ22625 DCOHM 5q31.2 hypothetical protein FLJ22625 CATSPER3 5q31.2 cation channel, sperm associated 3 PITX1 5q31 paired-like homeodomain transcription factor 1 LOC389328 5 LOC389328 LOC389329 5 LOC389329 H2AFY 5q31.3-q32 H2A histone family, member Y DCNP1 5q31.2 dendritic cell nuclear protein 1 LOC345607 5q31.2 similar to FLJ00292 protein NEUROG1 5q23-q31 neurogenin 1 CXCL14 5q31 chemokine (C-X-C motif) ligand 14 LOC389330 5 LOC389330 LOC389331 5 LOC389331 LOC153328 5q31.2 similar to CG4995 gene product IL9 5q31.1 interleukin 9 FBXL3B 5q31 F-box and leucine-rich repeat protein 3B LECT2 5q31.1-q32 leukocyte cell-derived chemotaxin 2 TGFBI 5q31.1 transforming growth factor, beta-induced, 68kDa DAMS 5q31.1 SMAD in the antisense orientation MADH5 5q31.1 MAD, mothers against decapentaplegic homolog 5 (Drosophila) LOC389332 5 hypothetical gene supported by BC048329 TRPC7 5q31.2 transient receptor potential cation channel, subfamily C, member 7 LOC391834 5 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) LOC391835 5 similar to Hypothetical protein FLJ20189 SPOCK 5q31 sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 2805 68 683 - 2009 1388724
    mature protein predicted to have a molecular mass of, ­68 kDa
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
     pharynx   highly
    Endocrinepancreas    
    Reproductivefemale systemplacenta  highly
    Skin/Tegumentskin   highly
    Urinarykidney   highly
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualepithelial cell
    cell lineage chondrocytes throughout all stages (
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal secretory signal peptide that targets it for insertion into the lumen of the endoplasmic reticulum (ER) for eventual secretion, cysteine-rich EMI domain critical for the interaction with periostin
  • four tandem repeats of fasciclin-1 like (FAS1) domains
  • RGD sequence in the C-terminal region (
    • HOMOLOGY
    interspecies ortholog to Tgfbi, Mus musculus
    ortholog to Tgfbi, Rattus norvegicus
    ortholog to tgfbi, danio rerio
    ortholog to TGFBI, Pan troglodytes
    Homologene
    FAMILY
  • family of proteins, which includes periostin, STAB1, and STAB2
    • CATEGORY secretory , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,Golgi
    text
  • external surface
  • endogenous periostin and TGFBI colocalize in the trans-Golgi network
    • basic FUNCTION
  • may be playing an important role in cell-collagen interactions in cartilage
  • may function as an extracellular attachment protein in skin (
  • may be involved in endochondral bone formation
  • may play a critical role in endothelial cells-matrix interactions (
  • plays an important role in mediating human corneal epithelial (HCE) cell adhesion and migration
  • modulate cell adhesion and tumor formation
  • may be having a role as a secreted factor involved in cell adhesion, proliferation, and migration
  • associated with other ECM (extracellular matrix) proteins and functions as a ligand for various types of integrins
  • its expression is well correlated with chromatin conformation at the TGFBI promoter, and Sp1 and Sp3 are the primary determinants for the control of constitutive expression of TGFBI gene
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • TGFBI for ternary complex with COL6 and SLRPs
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • type I, II, and IV collagens (
  • strongly to type I collagen, fibronectin, and laminin; moderately to collagen type II and VI; and minimally to collagen type IV (
  • fibronectin (
  • extracellular matrix proteins, including fibronectin, biglycan, decorin, and several types of collagen
    • cell & other
    REGULATION
    induced by the hypoxia (one of multiple stress-related stimuli that may induce TGFBI)
    Other both chromatin structure and regulatory elements in the TGFBI promoter region that bind factors Sp1 and Sp3 regulate constitutive expression of TGFBI
    ASSOCIATED DISORDERS
    corresponding disease(s) CDL3A , CSD3 , CSD4 , CSD5 , EBMD1 , CDGG1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    in primary lung carcinoma and related to the tumor progression
    tumoral     --over  
    in renal, gastrointestinal, brain tumors
    tumoral     --over  
    in head-and-neck squamous cell carcinoma and seminoma
    Susceptibility to diffuse idiopathic skeletal hyperostosis in Japanese
    Variant & Polymorphism
    Candidate gene may serve as a diagnostic marker in brain tumors
    Marker
    Therapy target
    ANIMAL & CELL MODELS