| Gene Symbol | FGFR3 |
|---|---|
| Entrez Gene | 2261 |
| Alt Symbol | ACH, CD333, CEK2, HSFGFR3EX, JTK4 |
| Species | Human |
| Gene Type | protein-coding |
| Description | fibroblast growth factor receptor 3 |
| Other Description | FGFR-3|fibroblast growth factor receptor 3 variant 4|hydroxyaryl-protein kinase|tyrosine kinase JTK4 |
| Swissprots | Q59FL9 D3DVP9 Q16294 P22607 Q14308 Q16608 D3DVQ0 |
| Accessions | AAA67781 AAB33323 AAM22078 AAM22079 AAU89726 CAA70981 EAW82562 EAW82563 EAW82564 EAW82565 EAW82566 EAW82567 EAW82568 P22607 AB209441 BAD92678 AF238374 AAF97749 AF245114 AAF63380 AF369211 AAK54727 AF369212 AAK54728 AF369213 AAK54729 AK308936 AW204106 BC121175 AAI21176 BC128610 AAI28611 BC153824 AAI53825 BC166684 AAI66684 DR003490 HM244683 ADM64307 KJ534834 AHW56474 KJ534974 AHW56614 KJ535004 AHW56643 M58051 AAA52450 M59374 AAA63209 M64347 AAA58470 X84939 CAA59334 XM_006713868 XP_006713931 XM_006713869 XP_006713932 XM_006713870 XP_006713933 XM_006713871 XP_006713934 XM_006713872 XP_006713935 XM_006713873 XP_006713936 XM_011513420 XP_011511722 XM_011513422 XP_011511724 NM_000142 NP_000133 NM_001163213 NP_001156685 NM_022965 NP_075254 |
| Function | Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. |
| Subcellular Location | Isoform 3: Secreted. |
| Tissue Specificity | Expressed in brain, kidney and testis. Very low or no expression in spleen, heart, and muscle. In 20- to 22- week old fetuses it is expressed at high level in kidney, lung, small intestine and brain, and to a lower degree in spleen, liver, and muscle. Isoform 2 is detected in epithelial cells. Isoform 1 is not detected in epithelial cells. Isoform 1 and isoform 2 are detected in fibroblastic cells. {ECO:0000269|PubMed:1664411}. |
| Top Pathways | PI3K-Akt signaling pathway, Rap1 signaling pathway, Central carbon metabolism in cancer, Signaling pathways regulating pluripotency of stem cells, MicroRNAs in cancer |