Aliases for RET Gene
- Ret Proto-Oncogene 2 3 5
- Cadherin-Related Family Member 16 2 3
- Rearranged During Transfection 2 3
- RET Receptor Tyrosine Kinase 2 3
- Cadherin Family Member 12 3 4
- Proto-Oncogene C-Ret 3 4
- EC 18.104.22.168 4 61
- CDHF12 3 4
- CDHR16 3 4
- RET51 3 4
- PTC 3 4
- Ret Proto-Oncogene (Multiple Endocrine Neoplasia And Medullary Thyroid Carcinoma 1, Hirschsprung Disease) 3
- Multiple Endocrine Neoplasia And Medullary Thyroid Carcinoma 1 2
External Ids for RET Gene
Previous HGNC Symbols for RET Gene
Previous GeneCards Identifiers for RET Gene
This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]
RET mutations and the RET fusion RET-PTC lead to activation of this tyrosine kinase receptor and are associated with thyroid cancers. RET point mutations are the most common mutations identified in medullary thyroid cancer (MTC) with germline and somatic mutations in RET associated with hereditary and sporadic forms, respectively. The most common somatic form mutation is M918T (exon 16) and a variety of other mutations effecting exons 10, 11 and 15 have been described. The prognostic significance of these mutations have been hotly debated in the field, however, data suggests that some RET mutation may confer drug resistence. No RET-specific agents are currently clinically available but several promiscuous kinase inhibitors that target RET, among others, have been approved for MTC treatment.
GeneCards Summary for RET Gene
RET (Ret Proto-Oncogene) is a Protein Coding gene. Diseases associated with RET include Multiple Endocrine Neoplasia Iia and Medullary Thyroid Carcinoma, Familial. Among its related pathways are RET signaling and Innate Immune System. GO annotations related to this gene include calcium ion binding and protein kinase activity. An important paralog of this gene is PDGFRB.
UniProtKB/Swiss-Prot for RET Gene
Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyers patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration.