Version: 8.0.0Date: Tue Jan 28 2025
Gene
RET
- Species
- Homo sapiens
- Symbol
- RET
- Name
- ret proto-oncogene
- Synonyms
- cadherin family member 12
- cadherin-related family member 16
- Biotype
- protein coding gene
- Automated Description
- Enables calcium ion binding activity and transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including GDF15-GFRAL signaling pathway; neuron cell-cell adhesion; and positive regulation of signal transduction. Located in endosome membrane. Part of plasma membrane protein complex and receptor complex. Is active in plasma membrane. Implicated in several diseases, including Hirschsprung's disease; familial medullary thyroid carcinoma; multiple endocrine neoplasia type 2A; multiple endocrine neoplasia type 2B; and pheochromocytoma. Biomarker of pancreatic cancer.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24416
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr10:43077064...43130351 + (53.29 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.