RET Active Protein

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: a proto-oncogenic receptor tyrosine kinase. Receptor for glial cell line-derived neurotropic factor (GDNF) and its congeners neurturin, persephin and artemin. Part of a multicompetent receptor complex with other membrane-bound ligand-binding GDNF family receptors (aGFRs). Required for development of the kidney and neural crest-derived cell types. Three alternatively spliced isoforms have been described.

Protein type: Oncoprotein; Protein kinase, TK; Kinase, protein; Protein kinase, tyrosine (receptor); Membrane protein, integral; EC 2.7.10.1; TK group; Ret family

Chromosomal Location of Human Ortholog: 10q11.2

Cellular Component: intracellular membrane-bound organelle; integral to plasma membrane; cytoplasm; plasma membrane; endosome membrane; receptor complex; lipid raft

Molecular Function: protein binding; protein-tyrosine kinase activity; receptor activity; transmembrane receptor protein tyrosine kinase activity; calcium ion binding; ATP binding

Biological Process: caspase activation; regulation of cell adhesion; response to drug; posterior midgut development; positive regulation of neuron maturation; peptidyl-tyrosine phosphorylation; positive regulation of cell size; membrane protein proteolysis; positive regulation of transcription, DNA-dependent; MAPKKK cascade; positive regulation of cell adhesion mediated by integrin; response to pain; signal transduction; regulation of axonogenesis; neuron maturation; protein amino acid phosphorylation; enteric nervous system development; retina development in camera-type eye; ureteric bud development; embryonic epithelial tube formation; neuron adhesion; homophilic cell adhesion; neural crest cell migration; transmembrane receptor protein tyrosine kinase signaling pathway; positive regulation of cell migration

Disease: Multiple Endocrine Neoplasia, Type Iib; Multiple Endocrine Neoplasia, Type Iia; Thyroid Carcinoma, Papillary; Hirschsprung Disease, Susceptibility To, 1; Thyroid Carcinoma, Familial Medullary