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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
Corresponding disease
OFC2 orofacial cleft 2
Location 2p13.3      Physical location : 70.674.418 - 70.781.105
DNA
TYPE functioning gene
STRUCTURE 106.70 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
LOC388957 2 similar to expressed sequence C79663 LOC388958 2 hypothetical gene supported by AF090101 AAK1 2p24.3-p14 AP2 associated kinase 1 ANXA4 2p13 annexin A4 FLJ13057 2p13.3 hypothetical protein FLJ13057 similar to germ cell-less RY1 2p13.3 putative nucleic acid binding protein RY-1 MAD 2p12 MAX dimerization protein 1 FLJ25084 2p13.3 hypothetical protein FLJ25084 PCBP1 2p13-p12 poly(rC) binding protein 1 LOC151518 2p13.3 hypothetical LOC151518 MRPL36P1 2p13.2 hypothetical LOC151518 FLJ20558 2p13.3 hypothetical protein FLJ20558 TIA1 2p13 TIA1 cytotoxic granule-associated RNA binding protein PCYOX1 2p13.3 prenylcysteine oxidase 1 SNRPG 2p12 small nuclear ribonucleoprotein polypeptide G FLJ14668 2p13.3 hypothetical protein FLJ14668 TGFA 2p13 transforming growth factor, alpha ADD2 2p14-p13 adducin 2 (beta) CLECSF13 2p13.3 likely ortholog of mouse C-type (calcium dependent, carbohydrate recognition domain) lectin, superfamily member 13 CD207 2p13 CD207 antigen, langerin VAX2 2p13.3 ventral anterior homeobox 2 ATP6V1B1 2p13 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 1 (Renal tubular acidosis with deafness) FLJ12056 2p13.2 hypothetical protein FLJ12056 TEX261 2p13.2 testis expressed gene 261 LOC115131 2p13.2 similar to POSSIBLE GUSTATORY RECEPTOR CLONE PTE01 OR7E91P 2p12 olfactory receptor, family 7, subfamily E, member 91 pseudogene OR7E62P 2p12 olfactory receptor, family 7, subfamily E, member 62 pseudogene NAGK 2p13 N-acetylglucosamine kinase MCEE 2p12 methylmalonyl CoA epimerase MPHOSPH10 2p12 M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) LOC391386 2 similar to KIAA1155 protein NP220 2p13 similar to KIAA1155 protein
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 4261 - 159 - 1992 1639032
6 - 4264 - 160 - 1992 1639032
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivemouthtongue  highly
Nervousbrainforebrain  highly Homo sapiens
 brainlimbic systemhippocampusdentate gyrushighly Homo sapiens
 spinal cord   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Epithelialbarrier/lining   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunemacrophage
Nervousastrocyte Homo sapiens
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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