RET Oncoprotein

Preferred Label : RET Oncoprotein;

NCIt definition : Human RET Oncoprotein is a product of mutated variants (Oncogene RET) of RET Gene, which encodes Tyrosine-Protein Kinase Receptor RET, a type I membrane protein receptor for Glial Cell Line-Derived with an extracellular cadherin-like domain and important in neural crest development. Some oncogenic RET point mutations cause constitutive kinase activation. PTC1 oncogene involves fusion of RET kinase to the H4 dimerization leucine zipper. In PTC6, RET is fused to the N-terminal part of Transcriptional Intermediary Factor-1-Alpha. In PTC7, RET is fused to a C-terminal part of TIF1-Gamma. Oncogenic RET mutations are associated with Hirschsprung's disease, Multiple Endocrine Neoplasia, pheochromocytoma, hyperparathyroidism and medullary thyroid cancer. RET Oncoprotein disrupts normal cell function.;

Details

Origin ID

C19954;

UMLS CUI

C1335613;

OMIM relation
- Rearranged during transfection protooncogene [OMIM Phenotype]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Kinase Family Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Oncogene [NCIt concept]
- Oncogene RET [NCIt concept]
- Phosphotransferase Gene [NCIt concept]
- RET Gene [NCIt concept]
- Receptor Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_biochemical_function
- Cell Surface Receptor [NCIt concept]
- Kinase [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Cytoplasmic Domain [NCIt concept]
- Extracellular Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
- Tyrosine Kinase Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Protein Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumorigenesis [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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