Version 2.77

Descriptions

Multiple Endocrine Neoplasia (MEN) is caused by mutations in the RET gene. The RET gene is located on the long arm of chromosome 10 at position 11.2. More than 25 mutations have been identified as causing type 2 MEN. Most of these mutations change a single amino acid in the RET protein. More than 90% of MEN type 2B is caused by the M918T mutation which replaces amino acid methionine with threonine at position 918. MEN2B mutations result in overactive RET protein that can transmit signals without first attaching to growth factors outside the cell. The overactive protein may trigger abnormal cell growth and division, leading to formation of endocrine tumors. MEN2B mutations are found in 100% of the cases of medullary carcinoma of the thyroid and 50% of cases of pheochromocytoma, as well as with mucosal neuromas and Marfanoid body habitus. Information from ARUP Laboratories and Genetics Home Reference@ghr.nlm.nih.gov, accessed 2007 09 25. Source: Regenstrief Institute

The RET gene (ret proto-oncogene) [HGNC Gene ID:9967] is located on chromosome 10q11.2. 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] [NCBI Gene ID:5979] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type Source Reference
Webcontent Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. Link to OMIM

Basic Part Properties

Part Display Name
RET gene
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
RET gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19763-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19763-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) RET 基因
Synonyms: CDHF12;C-RET;HSCR1;MEN2A;MEN2B;MTC1;PTC;RET 原癌基因;RET 原致癌基因;多发性内分泌肿瘤 2a 型;多发性内分泌肿瘤 2b 型;多发性内分泌肿瘤 IIa 型;多发性内分泌肿瘤 IIb 型
et-EE Estonian (Estonia) RET geen
es-ES Spanish (Spain) Gen RET
it-IT Italian (Italy) RET, gene
Synonyms: Gene RET
tr-TR Turkish (Turkey) RET geni
ru-RU Russian (Russian Federation) RET ген
nl-NL Dutch (Netherlands) RET-gen
Synonyms: RET gen