GENE NAME | RET |
CHROMOSOME | 10 |
ENSEMBL ID | ENSG00000165731 |
ENTREZ ID | 5979 |
UNIPROT ACCESSION NUMBER | P07949 |
GO MOLECULAR FUNCTION | protein binding; transmembrane receptor protein tyrosine kinase activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05230; R-HSA-5673001; R-HSA-162582; R-HSA-8853659; hsa04020; hsa05223; R-HSA-5684996; hsa05216; hsa05223; hsa05216; R-HSA-1266738; hsa04020; R-HSA-422475; R-HSA-5683057; R-HSA-9675108; hsa05230; hsa05200; hsa05200 |
6 combinations linked to RET | OLI343; OLI184; OLI035; OLI597; OLI021; OLI347 |
6 variants linked to RET | RET:c.2379delC, p.Cys794AlafsTer75; RET:p.Ile647=; RET:p.Asp489Gly; RET:c.3120G>C, p.Leu1040=; RET:c.1465G>A, p.Asp489Asn; RET:c.1907C>T, p.Thr636Met |
3 diseases linked to RET | Disorder of sex development; Hirschsprung disease; 46,XY disorder of sex development |