RET proto-oncogene

RET
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRET, Ret, PTC, RET51, RET9, c-Ret, CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, RET-ELE1, ret proto-oncogene
External IDsOMIM: 164761; MGI: 97902; HomoloGene: 7517; GeneCards: RET; OMA:RET - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 6: 118.13 – 118.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165731Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030110Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Knowles PP, Murray-Rust J, Kjaer S, Scott RP, Hanrahan S, Santoro M, et al. (November 2006). "Structure and chemical inhibition of the RET tyrosine kinase domain". The Journal of Biological Chemistry. 281 (44): 33577–33587. doi:10.1074/jbc.M605604200. PMID 16928683.
  6. ^ Veiga-Fernandes H, Pachnis V (February 2017). "Neuroimmune regulation during intestinal development and homeostasis". Nature Immunology. 18 (2): 116–122. doi:10.1038/ni.3634. PMID 28092371. S2CID 5519816.
  7. ^ Bahrami A, Joodi M, Moetamani-Ahmadi M, Maftouh M, Hassanian SM, Ferns GA, Avan A (January 2018). "Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application". Journal of Cellular Biochemistry. 119 (1): 28–33. doi:10.1002/jcb.26149. PMID 28543993. S2CID 12086686.