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RET ret proto-oncogene

Gene ID: 5979, updated on 19-Feb-2024
Gene type: protein coding
Also known as: PTC; MTC1; HSCR1; MEN2A; MEN2B; CDHF12; CDHR16; RET-ELE1

Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
GeneReviews: Not available
Familial medullary thyroid carcinomaSee labs
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
GeneReviews: Not available
Hirschsprung disease, susceptibility to, 1
MedGen: C3888239OMIM: 142623GeneReviews: Not available
See labs
Multiple endocrine neoplasia, type 2See labs
Multiple endocrine neoplasia, type 2aSee labs
Multiple endocrine neoplasia, type 2bSee labs
PheochromocytomaSee labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-08-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-08-26)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
10q11.21
Sequence:
Chromosome: 10; NC_000010.11 (43077069..43130351)
Total number of exons:
20

Links

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