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FLASH GENE
Symbol TGFB3 contributors: mct - updated : 27-09-2011
HGNC name transforming growth factor, beta 3
HGNC id 11769
Corresponding disease
ARVD1 arrhythmogenic right ventricular dysplasia, familial, 1
Location 14q24.3      Physical location : 76.424.441 - 76.448.092
Synonym name transforming growth factor, beta 3, including the latent-associated peptide
Synonym symbol(s) ARVD, FLJ16571, TGF-beta3
DNA
TYPE functioning gene
STRUCTURE 23.65 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   HRE
text structure
  • a putative FOXE1 consensus site in its promoter region
  • cAMP-responsive element (CRE) in TGFB3 promoter is recognized as an important regulatory site for TGFB3 auto-regulation
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 3183 - 412 - 2002 12239581
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connective    
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
     digestive
    Blood/Hematopoieticmonocyte
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal LAP (latency associated peptide)
  • prodomains of TGFB1 and TGFB3 contain an RGD motif that is recognized by alpha5 integrins
  • EGF repeats
  • a C terminal TGFB sequence
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY TGF beta superfamily
    CATEGORY signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • involved in embryogenesis and cell differentiation
  • role in the etiology of Cleft lip/palate among the central European population if the risk allele is inherited from the father
  • may actually play a protective role against tumourigenesis in a range of tissues including the skin, breast, oral and gastric mucosa
  • TGFB3 signaling is crucial for proper differentiation and morphogenesis of neural crest-derived cells in eye structures
  • MSX1 and TGFB3 signaling is crucial for proper differentiation and morphogenesis of neural crest-derived cells in eye structures
  • TGFB3 signaling cascade regulates the FasL-Fas-caspase extrinsic apoptosis pathway and is essential for palatal fusion during craniofacial development
  • CELLULAR PROCESS cell life, proliferation/growth
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling signal transduction
    via the SMAD (MADH2 or MADH3-MADH4) complex
    a component forming a small latent complex by disulfide bonding between TGFB dimer and the propeptide dimer TGF-beta 1 latency associated prolypeptide (LAP)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • great interaction between TGFB1 and TGFB3 in the developing palate, confirming that TGFB3 has a more active role in midline epithelial seam cell death than TGFB1
  • interacting with CDC42 (CDC42 is a crucial regulatory component in the TGFB3-mediated cascade of events that leads to the disruption of the tight junction fibrils above the preleptotene spermatocytes to facilitate their transit (
  • interacting with FOXE1 (role of FOXE1 in controlling the expression of MSX1 and TGFB3 relevant in craniofacial development)
  • interacting with Wnt/CTNNB (essential role for Wnt/CTNNB signaling in the epithelial component at the step of palate fusion during palate development by controlling the expression of TGFB3 in the medial edge epithelium (MEE))
  • cell & other epithelial-mesenchymal interactions
    REGULATION
    induced by SNAI1, SNAI2 (SNAI1 and SNAI2 promote formation of beta-catenin-T-cell factor (TCF)-4 transcription complexes that bind to the promoter of the TGFB3 gene to increase its transcription)
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in chondrosarcomas
    Susceptibility
  • to nonsyndromic cleft lip with or without cleft palate
  • to ossification of the posterior longitudinal ligament of the spine
  • Variant & Polymorphism SNP
  • increasing the risk of ossification of the posterior longitudinal ligament of the spine
  • polymorphisms increasing the risk of nonsyndromic cleft lip with or without cleft palate
  • Candidate gene
  • to nonsyndromic cleft lip with or without cleft palate
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • abnormal limb development and cleft palate in mice lacking TGFB3
  • Tgf-beta3 null mutant palates of two strains of mice (C57/BL/6J (C57), and MF1) that develop cleft palates of different severity