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FLASH GENE
Symbol TGFA contributors: mct/npt/pgu - updated : 12-12-2014
HGNC name transforming growth factor, alpha
HGNC id 11765
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an EGF-like domain
  • HOMOLOGY
    Homologene
    FAMILY
  • epidermal growth factor family
  • CATEGORY signaling cytokine growth factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    basic FUNCTION
  • transforming growth factor, involved in mitogenesis and angiogenenesis
  • able to bind to the EGF receptor and to act synergistically with TGF beta to promote anchorage-independent cell proliferation
  • major autocrine EGF receptor ligand
  • having an EGFR-independent action, in which it protects NKD2 from proteasomal degradation, thus ensuring its delivery to the basolateral surface of polarized epithelial cells
  • influence risk of CL/P through unconventional means with an apparent parent-of-origin effect (excess maternal transmission) and possible interaction with maternal exposures
  • TGFA and EREG lead to complete receptor recycling, and AREG does not target EGFR for lysosomal degradation but causes fast as well as slow EGFR recycling
  • EGF and TGFA retain some level of functional redundancy, possibly resulting from their divergence from a common ancestral gene
  • may attenuate hepatic fibrosis in part because of upregulation of the expression of MMP1
  • MMP9 expression induced by TGFA is a valid target of PPARD ligands in keratinocytes
  • appears to be an important growth factor regulating the conversion of cartilage to bone during the process of endochondral ossification
  • increased proliferation and migration of pancreatic stellate cells (PSCs), and TGFA-induced migration of cells may be partly due to upregulation of MMP1
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • tethered to GORASP2, involved in the stacking of the Golgi cieternae in vitro
  • has a role in efficient trafficking of TGFA to the cell surface in polarized epithelial cells
  • interacting with CD9 (CD9 decreases its ectodomain shedding to release soluble TGFA)
  • interaction with NKD2 (Ding 2008)
  • CITED2 functions as a molecular switch of TGFA and TGFB1-induced growth control
  • interaction of IRF6 and TGFA contribute to subsets of CL/P with specific dental anomalies
  • P4HTM overexpression in tumor cells stimulated the expression of TGFa, which was necessary and sufficient to promote angiogenic sprouting of endothelial cells
  • increased the cell migration and expression of intercellular adhesion molecule-1 (ICAM1) in human osteosarcoma cells
  • cell & other
    REGULATION
    Other regulated by PAX3 or PAX3-FOXO1A
    ASSOCIATED DISORDERS
    corresponding disease(s) OFC2
    Susceptibility
  • to cleft lip with/without cleft palate
  • to tooth agenesis
  • Variant & Polymorphism other variants and haplotypes are associated with tooth agenesis
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    highly,in the epithelial tissue of the medial edge of the palatal shelves at the time of shelf fusion in mice