Gene
ret
- ID
- ZDB-GENE-980526-307
- Name
- ret proto-oncogene receptor tyrosine kinase
- Symbol
- ret Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Exhibits protein homodimerization activity. Involved in several processes, including autonomic nervous system development; branchiomeric skeletal muscle development; and pronephros morphogenesis. Predicted to localize to axon; integral component of plasma membrane; and receptor complex. Used to study Hirschsprung's disease. Human ortholog(s) of this gene implicated in several diseases, including Hirschsprung's disease; congenital central hypoventilation syndrome; familial medullary thyroid carcinoma; multiple endocrine neoplasia type 2A; and multiple endocrine neoplasia type 2B. Is expressed in nervous system; pharyngeal arch; presumptive enteric nervous system; pronephric duct; and vagal neural crest. Orthologous to human RET (ret proto-oncogene).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 41 figures from 30 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 24 figures from 13 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
familial medullary thyroid carcinoma | Alliance | Medullary thyroid carcinoma | 155240 |
multiple endocrine neoplasia type 2A | Alliance | Multiple endocrine neoplasia IIA | 171400 |
multiple endocrine neoplasia type 2B | Alliance | Multiple endocrine neoplasia IIB | 162300 |
pheochromocytoma | Alliance | Pheochromocytoma | 171300 |
{Hirschsprung disease, protection against} | 142623 | ||
{Hirschsprung disease, susceptibility to, 1} | 142623 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Hirschsprung's disease | retwmr1/+; em2Tg/em2Tg | standard conditions | Baker et al., 2022 |
Hirschsprung's disease | rethu2846/+ | standard conditions | Heanue et al., 2016 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Active_site | IPR008266 | Tyrosine-protein kinase, active site |
Binding_site | IPR017441 | Protein kinase, ATP binding site |
Domain | IPR000719 | Protein kinase domain |
Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
Domain | IPR002126 | Cadherin-like |
Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
Domain | IPR040667 | Tyrosine-protein kinase receptor Ret, cadherin like domain 3 |
Domain | IPR041163 | Ret, cadherin like domain 1 |
Domain | IPR041317 | RET, cadherin-like domain 4 |
Family | IPR016249 | Tyrosine-protein kinase, Ret receptor |
Family | IPR050122 | Receptor Tyrosine Kinase |
Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Homologous_superfamily | IPR015919 | Cadherin-like superfamily |
Domain Details Per Protein
Protein | Length | Cadherin-like | Cadherin-like superfamily | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Ret, cadherin like domain 1 | RET, cadherin-like domain 4 | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase receptor Ret, cadherin like domain 3 | Tyrosine-protein kinase, Ret receptor |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A8E7C6
|
1106 |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-ret | polyclonal | Rabbit |
|
Santa Cruz Biotechnology, Inc.
|
4 |
Plasmids
No data available