RET ret proto-oncogene
Gene ID: 5979, updated on 14-Nov-2024Gene type: protein coding
Also known as: PTC; MTC1; HSCR1; MEN2A; MEN2B; CDHF12; CDHR16; RET-ELE1
- See all available tests in GTR for this gene
- Go to complete Gene record for RET
- Go to Variation Viewer for RET variants
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
| Description | Tests |
|---|---|
| A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease. GeneReviews: Not available | |
| Familial medullary thyroid carcinoma | not available |
| Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease. GeneReviews: Not available | |
| Hirschsprung disease, susceptibility to, 1 | not available |
| Multiple endocrine neoplasia type 2A | not available |
| Multiple endocrine neoplasia type 2B | not available |
| Multiple endocrine neoplasia, type 2 MedGen: C4048306GeneReviews: Multiple Endocrine Neoplasia Type 2 | not available |
| Pheochromocytoma | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-08-26) ClinGen Genome Curation PageHaploinsufficency 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RET variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Catalogue of Somatic Mutations in Cancer (COSMIC)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- RET database
- Variation ViewerRelated Variants
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