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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
    Physical map
    C14orf111 14q24.2 chromosome 14 open reading frame 111 C14orf170 14q24.3 chromosome 14 open reading frame 170 FLJ36749 14q24.2 hypothetical protein FLJ36749 LOC390494 14 similar to DC3 DLST 14q24.3 dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) RPS6KL1 14q24.2 ribosomal protein S6 kinase-like 1 PGF 14q24.3 placental growth factor, vascular endothelial growth factor-related protein EIF2B2 14q24.3 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa MLH3 14q24.3 mutL homolog 3 (E. coli) LOC387998 14 similar to Acylphosphatase, organ-common type isozyme (Acylphosphate phosphohydrolase) (Acylphosphatase, erythrocyte isozyme) C14orf140 14q24.2 chromosome 14 open reading frame 140 NEK9 14q24.2 NIMA (never in mitosis gene a)- related kinase 9 TMP21 14q24.3 NIMA (never in mitosis gene a)- related kinase 9 LOC338918 14q24.2 hypothetical LOC338918 FOS 14q24.3 v-fos FBJ murine osteosarcoma viral oncogene homolog LOC341912 14q24.2 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 JDP2 14q24.3 jun dimerization protein 2 BATF 14q24 basic leucine zipper transcription factor, ATF-like C14orf58 14q24.2 chromosome 14 open reading frame 58 RPS24P2 14 ribosomal protein S24 pseudogene 2 C14orf1 14q24.3 chromosome 14 open reading frame 1 KIAA0998 14q24.3 chromosome 14 open reading frame 1 TGFB3 14q24.3 transforming growth factor, beta 3 MGC16028 14q24.3 MGC16028 similar to RIKEN cDNA 1700019E19 gene C14orf118 14q22.1-q24.3 chromosome 14 open reading frame 118 ESRRB 14q24.3 estrogen-related receptor beta CYCSP1 14q24.3 cytochrome c, somatic pseudogene 1 LAMR1P3 14 laminin receptor 1 pseudogene 3 LOC388000 14 LOC388000 KIAA1036 14q24.3 LOC388000 KIAA0759 14q24.3 LOC388000 LOC145497 14q24.3 hypothetical protein LOC145497 RPL22P2 14 ribosomal protein L22 pseudogene 2 RPLP1P1 14q23 ribosomal protein, large, P1 pseudogene 1 C14orf4 14q24.3 chromosome 14 open reading frame 4 KIAA1737 14q24.3 KIAA1737 C14orf59 14 chromosome 14 open reading frame 59
    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