| GENE NAME | FGFR3 |
| CHROMOSOME | 4 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000068078 |
| UNIPROT ACCESSION NUMBER | P22607 |
| GO MOLECULAR FUNCTION | ['protein tyrosine kinase activity', 'protein serine/threonine/tyrosine kinase activity', 'transmembrane receptor protein tyrosine kinase activity', 'protein binding', 'fibroblast growth factor-activated receptor activity', 'fibroblast growth factor binding', 'identical protein binding', 'ATP binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa01521; hsa04010; hsa04014; hsa04015; hsa04020; hsa04144; hsa04151; hsa04550; hsa04810; hsa05200; hsa05206; hsa05219; hsa05230; R-HSA-1226099; R-HSA-1643685; R-HSA-1839130; R-HSA-2033514; R-HSA-2033515; R-HSA-5655332; R-HSA-5663202; R-HSA-8853334; R-HSA-8853338; hsa01521; hsa04010; hsa04014; hsa04015; hsa04020; hsa04144; hsa04151; hsa04550; hsa04810; hsa05200; hsa05206; hsa05219; hsa05230 |
| 6 combinations linked to FGFR3 | OLI1745; OLI553; OLI1558; OLI1580; OLI1538; OLI1528 |
| 5 variants linked to FGFR3 | FGFR3:c.1412A>T, p.Lys471Met; FGFR3:c.1885G>A, p.Glu629Lys; FGFR3:c.1498C>T, p.Arg500Trp; FGFR3:c.2339C>G, p.Pro780Arg; FGFR3:c.1633_1634del, p.Cys545HisfsTer17 |
| 3 diseases linked to FGFR3 | Schizophrenia; 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |