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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
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