Fusion genes (updated 2016) | ACBD5 (10p12.1) / RET (10q11.21) | AFAP1 (4p16.1) / RET (10q11.21) | AKAP13 (15q25.3) / RET (10q11.21) |
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BCR (22q11.23) / RET (10q11.21) | CCDC6 (10q21.2) / RET (10q11.21) | CUX1 (7q22.1) / RET (10q11.21) |
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ERC1 (12p13.33) / RET (10q11.21) | FGFR1OP (6q27) / RET (10q11.21) | FKBP15 (9q32) / RET (10q11.21) |
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GOLGA5 (14q32.12) / RET (10q11.21) | HOOK3 (8p11.21) / RET (10q11.21) | HRH4 (18q11.2) / RET (10q11.21) |
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KIAA1468 (18q21.33) / RET (10q11.21) | KIF5B (10p11.22) / RET (10q11.21) | KTN1 (14q22.3) / RET (10q11.21) |
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MBD1 (18q21.1) / RET (10q11.21) | MYH13 (17p13.1) / RET (10q11.21) | NCOA4 (10q11.23) / RET (10q11.21) |
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PARG (10q11.23) / RET (10q11.21) | PCM1 (8p22) / RET (10q11.21) | PRKAR1A (17q24.2) / RET (10q11.21) |
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RET (10q11.21) / ANK3 (10q21.2) | RET (10q11.21) / CCDC6 (10q21.2) | RET (10q11.21) / ERC1 (12p13.33) |
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RET (10q11.21) / GOLGA5 (14q32.12) | RET (10q11.21) / HOOK3 (8p11.21) | RET (10q11.21) / HRH4 (18q11.2) |
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RET (10q11.21) / KIF5B (10p11.22) | RET (10q11.21) / KTN1 (14q22.3) | RET (10q11.21) / MBD1 (18q21.1) |
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RET (10q11.21) / NCOA4 (10q11.23) | RET (10q11.21) / NTRK1 (1q23.1) | RET (10q11.21) / PCM1 (8p22) |
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RET (10q11.21) / PRKAR1A (17q24.2) | RET (10q11.21) / PTCH2 (1p34.1) | RET (10q11.21) / RET (10q11.21) |
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RET (10q11.21) / TAS2R38 (7q34) | RET (10q11.21) / TRIM24 (7q33) | RET (10q11.21) / TRIM27 (6p22.1) |
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RET (10q11.21) / TRIM33 (1p13.2) | SPECC1L (22q11.23) / RET (10q11.21) | TBL1XR1 (3q26.32) / RET (10q11.21) |
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TRIM24 (7q33) / RET (10q11.21) | TRIM27 (6p22.1) / RET (10q11.21) | TRIM33 (1p13.2) / RET (10q11.21) |
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| Description | Several isoforms; 3 main isoforms detected in human : long isoform (RET51): 1114 amino acids ; middle isoform (RET 43): 1106 amino acids ; short isoform (RET 9) : 1072 amino acids. |
| Expression | RET is mainly expressed in tumors of neural crest origin : medullary thyroid carcinoma, pheochromocytoma, neuroblastoma. In human embryos, RET is expressed in a cranial population of neural crest cells, and in the developing nervous and urogenital systems. RET expression is found in several crest-derived cell lines, spleen, thymus, lymph nodes, salivary glands, spermatogonia, and recently in normal thyroid tissue, thyroid adenoma and both papillary and follicular thyroid cell neoplasias. |
| Function | RET is a tyrosine kinase receptor whose ligands are neurotrophic factors of the glial-cell line derived neurotrophic factor (GDNF) family, including GDNF, neurturin, artemin and persefin. RET activation is mediated via different glycosyl phosphatidylinositol-linked GRF_ receptors. |
| Homology | General structure is similar to other tyrosine kinase receptors but RET differs by the presence of a cadherin domain in its extracellular region. |
| RET receptor expression in thyroid follicular epithelial cell-derived tumors. |
| Bunone G, Uggeri M, Mondellini P, Pierotti MA, Bongarzone I |
| Cancer research. 2000 ; 60 (11) : 2845-2849. |
| PMID 10850426 |
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| Mutations of the RET proto-oncogene in Hirschsprung's disease. |
| Edery P, Lyonnet S, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékété C, Ponder BA, Munnich A |
| Nature. 1994 ; 367 (6461) : 378-380. |
| PMID 8114939 |
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| A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. |
| Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Höppener JW, van Amstel HK, Romeo G |
| Nature. 1994 ; 367 (6461) : 375-376. |
| PMID 7906866 |
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| Human ret proto-oncogene mapped to chromosome 10q11.2. |
| Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, Fertitta A, Carrano AV, Nagao M |
| Oncogene. 1989 ; 4 (12) : 1519-1521. |
| PMID 2687772 |
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| The RET proto-oncogene in human cancers. |
| Jhiang SM |
| Oncogene. 2000 ; 19 (49) : 5590-5597. |
| PMID 11114739 |
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| The RET receptor: function in development and dysfunction in congenital malformation. |
| Manié S, Santoro M, Fusco A, Billaud M |
| Trends in genetics : TIG. 2001 ; 17 (10) : 580-589. |
| PMID 11585664 |
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| Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. |
| Marsh DJ, Learoyd DL, Andrew SD, Krishnan L, Pojer R, Richardson AL, Delbridge L, Eng C, Robinson BG |
| Clinical endocrinology. 1996 ; 44 (3) : 249-257. |
| PMID 8729519 |
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| Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. |
| Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L |
| Nature. 1993 ; 363 (6428) : 458-460. |
| PMID 8099202 |
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| The GDNF/RET signaling pathway and human diseases. |
| Takahashi M |
| Cytokine & growth factor reviews. 2001 ; 12 (4) : 361-373. |
| PMID 11544105 |
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| Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. |
| Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H |
| Oncogene. 1988 ; 3 (5) : 571-578. |
| PMID 3078962 |
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