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FLASH GENE
Symbol TGFBR3 contributors: mct/npt/pgu - updated : 20-02-2013
HGNC name transforming growth factor, beta receptor III
HGNC id 11774
DNA
TYPE functioning gene
STRUCTURE 225.67 kb     17 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • alternative promoters, a distal and proximal promoter
  • only the proximal promoter was responsive and negatively regulated by TGF-beta1 and constitutively active ALK5
  • MAPPING cloned Y linked N status provisional
    Map pter - D1S1572 - D1S435 - TGFBR3 - D1S2804 - D1S3708E - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 6472 93.34 851 - 2008 18845534
    18 - 6308 - 850 - 2008 18845534
    17 - 6475 93.5 851 - 2008 18845534
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Hearing/Equilibriumear   highly
    Lymphoid/Immunethymus     Homo sapiensAdult
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiensAdult
    Connectiveadipose  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneT cell Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • cysteine-rich N terminal extracellular domain involved in ligand binding
  • a single transmembrane domain (1TM), called the GS region
  • a specific cytoplasmic domain interacting with GIPC1 to support epicardial cells invasion and responsiveness to TGFB, FGF2
  • an ectodomain exhibiting a bilobular structure in which each lobule folds independently and binds TGF-beta through distinct nonoverlapping interfaces
  • a C terminal cytoplasmic kinase domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY signaling growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • transforming growth factor beta, receptor, menbrane bound serine/threonine kinase, receptor type
  • could be involved in capturing and retaining tgf-beta for presentation to the signaling receptors
  • heparan sulfate proteoglycan with a short cytoplasmic tail that functions as a TGF-beta superfamily co-receptor, contributing to TGF-beta signaling
  • playing a specific role for clathrin-independent endocytosis in regulating both Smad-dependent and Smad-independent TGF-beta signaling
  • presence of TGFBR3 is required for normal cord formation, normal fetal Leydig cell development, and the establishment of fetal testis endocrine function, thus implicating TGFB superfamily members as regulators of early fetal testis structure and function
  • coreceptor for members of the transforming growth factor beta (TGF-beta) superfamily
  • mediates TGF-beta superfamily ligand dependent as well as ligand independent signaling to both Smad and non-Smad signaling pathways
  • role as a suppressor of cancer progression and/or as a metastasis suppressor
  • TGFBR3 increases basal TGFbeta signalling
  • may act as a protective factor in apoptotic process of cardiac fibroblasts by negative regulation of TGFB signaling and represent a potential therapeutic target for heart remodeling after hypoxia injury
  • plays a central role in regulating responsiveness not only to members of the TGFB family but select mediators of epicardial cell function such FGF2
  • plays a crucial role in thymocyte differentiation
  • inhibins and TGFBR may function as a molecular pair regulating T cell development
  • TGFBR3 is a novel regulator of BAIAP2/WAS via CDC42 to regulate filopodial formation and cell adhesion
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between TGFBR3 and GIPC1
  • GIPC1, ACVR1, BMPR1A, and TGFBR1 are signaling components required for TGFBR3-mediated endothelial cell epithelial-mesenchymal transformation
  • TGFBR3 and CDC42 colocalize to filopodial structures and co-complex in a ARRB2 dependent, and a TGFBR1/TGFBR2 independent manner
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in renal cell carcinoma
    tumoral     --low  
    during the EMT (epithelial to mesenchymal transitions) of pancreatic cancer progression, with a specific role in suppressing EMT-associated increases in motility and invasion
    tumoral     --low  
    important step in prostate tumorigenesis
    tumoral fusion      
    of TGFBR3 and MGRA5, with t(1;10)(p22;q24) in myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor
    Susceptibility
  • to variation of hip BMD
  • to ovarian failure
  • to Behcet disease
  • Variant & Polymorphism SNP
  • rs17131547 significantly associated to variation of hip BMD
  • polymorphisms increasing the risk of ovarian failure
  • rs1805110 CC genotype in TGFBR3 is probably associated with the protection from Behcet disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of Tgfbr3 in the mouse results in death at E14.5 due to failed coronary vessel development that is characterized by an abnormal epicardium, increased subepicardial space, and poorly developed, dysmorphic vessels