proto-oncogene tyrosine-protein kinase receptor ret; C-ret; (RET, CDHF12)
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Function
- receptor tyrosine kinase
- functional receptor for GDNFR-alpha
- role in development
- phosphorylated form interacts with the PBT domain of DOK2, DOK4 & DOK5 (putative)
- phosphorylated
- autophosphorylated on C-terminal Tyr upon ligand stimulation
Structure
- belongs to the protein kinase superfamily, Tyr protein kinase family
- contains 1 cadherin domain
- contains 1 protein kinase domain
Compartment
membrane
Pathology
- defects in RET may cause
- chromosomal aberrations involving RET are a cause of thyroid papillary carcinoma (PACT) [MIM:188550]
- inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene
- inversion inv(10)(q11.2;q11.2) generates the RET/NCOA4 (PTC3)oncogene
- translocation t(10;14)(q11;q32) with GOLGA5 generates the RET/GOLGA5 (PTC5) oncogene; may occur secondary to radiation exposure
- translocation t(8;10)(p21.3;q11.2) with PCM1 generates the PCM1/RET fusion
- translocation t(6;10)(p21.3;q11.2) with RFP generates the delta RFP/RET oncogene
- translocation t(1;10)(p13;q11) with TRIM33 generates the TRIM33/RET (PTC7) oncogene
- translocation t(7;10)(q32;q11) with TIF1 generates the TIF1/RET (PTC6) oncogene
Polymorphism
- the Cys-982 polymorphism may be associated with an increased risk for developing Hirschsprung disease
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P07949.html
- ↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/RETID76.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=RET
- ↑ MEN2 RET database http://www.arup.utah.edu/database/MEN2/MEN2_welcome.php
- ↑ Hunter T. Cooperation between oncogenes. Cell. 1991 Jan 25;64(2):249-70. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/1988147
- ↑ van Heyningen V. Genetics. One gene-four syndromes. Nature. 1994 Jan 27;367(6461):319-20. PMID: https://www.ncbi.nlm.nih.gov/pubmed/7906865
- ↑ Romeo G et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994 Jan 27;367(6461):377-8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8114938
- ↑ Trupp M et al. Functional receptor for GDNF encoded by the c-ret proto- oncogene. Nature. 1996 Jun 27;381(6585):785-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8657281
Database
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5979
- OMIM: https://mirror.omim.org/entry/114500
- OMIM: https://mirror.omim.org/entry/142623
- OMIM: https://mirror.omim.org/entry/155240
- OMIM: https://mirror.omim.org/entry/162300
- OMIM: https://mirror.omim.org/entry/164761
- OMIM: https://mirror.omim.org/entry/171300
- OMIM: https://mirror.omim.org/entry/171400
- OMIM: https://mirror.omim.org/entry/188550
- OMIM: https://mirror.omim.org/entry/191830
- OMIM: https://mirror.omim.org/entry/209880
- UniProt: http://www.uniprot.org/uniprot/P07949.html