RET proto-oncogene

RET
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2IVS, 2IVT, 2IVU, 2IVV, 2X2K, 2X2L, 2X2M, 2X2U, 4CKI, 4CKJ, 4UX8, 5AMN
Identifiers
Aliases	RET, Ret, PTC, RET51, RET9, c-Ret, CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, RET-ELE1, ret proto-oncogene
External IDs	OMIM: 164761; MGI: 97902; HomoloGene: 7517; GeneCards: RET; OMA:RET - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q11.21 Start 43,077,064 bp[1] End 43,130,351 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 F1|6 55.86 cM Start 118,128,706 bp[2] End 118,174,679 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pars reticulata spinal ganglia Pars compacta trigeminal ganglion gonad testicle pons tibialis anterior muscle lateral nuclear group of thalamus muscle of thigh Top expressed in ventral tegmental area substantia nigra facial motor nucleus enteric nervous system lumbar spinal ganglion submandibular gland trigeminal ganglion anterior horn of spinal cord medial vestibular nucleus thyroid gland More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity nucleotide binding calcium ion binding protein kinase activity kinase activity protein binding protein tyrosine kinase activity ATP binding signaling receptor activity transmembrane receptor protein tyrosine kinase activity receptor tyrosine kinase transmembrane signaling receptor activity Cellular component integral component of membrane endosome intracellular membrane-bounded organelle membrane receptor complex integral component of plasma membrane axon neuronal cell body dendrite early endosome membrane raft endosome membrane plasma membrane cytosol plasma membrane protein complex cytoplasm Biological process cellular response to retinoic acid ureteric bud development embryonic epithelial tube formation membrane protein proteolysis phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell migration neuron cell-cell adhesion nervous system development neuron maturation positive regulation of metanephric glomerulus development positive regulation of transcription, DNA-templated regulation of axonogenesis protein phosphorylation enteric nervous system development positive regulation of extrinsic apoptotic signaling pathway in absence of ligand regulation of cell adhesion lymphocyte migration into lymphoid organs cell adhesion positive regulation of gene expression ureter maturation response to pain retina development in camera-type eye neural crest cell migration neuron differentiation positive regulation of cell size positive regulation of neuron projection development posterior midgut development positive regulation of cell adhesion mediated by integrin innervation positive regulation of neuron maturation activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction homophilic cell adhesion via plasma membrane adhesion molecules Peyer's patch morphogenesis peptidyl-tyrosine phosphorylation MAPK cascade axon guidance positive regulation of peptidyl-serine phosphorylation of STAT protein glial cell-derived neurotrophic factor receptor signaling pathway positive regulation of MAPK cascade positive regulation of protein kinase B signaling negative regulation of signal transduction cell differentiation negative regulation of apoptotic process positive regulation of ERK1 and ERK2 cascade neurogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5979 19713 Ensembl ENSG00000165731 ENSMUSG00000030110 UniProt P07949 P35546 RefSeq (mRNA) NM_000323 NM_020629 NM_020630 NM_020975 NM_001355216 NM_001080780 NM_009050 RefSeq (protein) NP_065681 NP_066124 NP_001342145 NP_066124.1 NP_001074249 NP_033076 Location (UCSC) Chr 10: 43.08 – 43.13 Mb Chr 6: 118.13 – 118.17 Mb PubMed search [3] [4]
Wikidata
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The RET proto-oncogene encodes a receptor tyrosine kinase for members of the glial cell line-derived neurotrophic factor (GDNF) family of extracellular signalling molecules.^[5] RET loss of function mutations are associated with the development of Hirschsprung's disease,^[6][7] while gain of function mutations are associated with the development of various types of human cancer, including medullary thyroid carcinoma, multiple endocrine neoplasias type 2A and 2B, pheochromocytoma and parathyroid hyperplasia.^{[citation needed]}