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FLASH GENE
Symbol TGFA contributors: mct/npt/pgu - updated : 02-10-2023
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,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,nucleus
    intracellular,nuclear envelope
    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
  • play multifunctional roles in the central nervous system (CNS), including the provision of neurotropic properties that protect neurons against various neurotoxic insults
  • modulates epithelial-mesenchymal transition (EMT) markers and NFKB signaling pathway in colon cancer cells
  • during head and neck development, IRF6 is involved in the structure formation of the oral and maxillofacial regions, and TGFA is an essential cell regulator, acting during proliferation, differentiation, migration and apoptosis
  • 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
  • ADAM17 regulates terminal differentiation of chondrocytes during endochondral ossification by activating the TGFA/EGFR signaling axis
  • 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
  • YY1 served as a critical negative regulator of the TGFA promoter as overexpression of YY1 decreased, while mutation of YY1 binding site in the promoter increased TGFA promoter activity
  • NFKB1 is a critical positive regulator, whereas YY1 is a negative regulator of the TGFA promoter
  • MITF effectively suppresses EGFR and TGFA expression and therefore serves as link between NFE2L2 and EGFR
  • 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 could be used as blast cell biomarker in diagnostic haematopathology
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    TGFA immunohistochemistry may be of use in identifying a therapeutic 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