FGFR3
Summary: This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:134934 Ensembl IDEnsembl:ENSG00000068078 HGNC IDHGNC:HGNC:3690 PHARMGKB IDPA28129 Map Location4p16.3 | |||||
GO terms in FGFR3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004709 | MAP kinase kinase kinase activity |
| MF | IBA | GO:0004713 | protein tyrosine kinase activity |
| MF | IDA | GO:0004713 | protein tyrosine kinase activity |
| MF | TAS | GO:0004713 | protein tyrosine kinase activity |
| MF | IBA | GO:0004714 | transmembrane receptor protein tyrosine kinase activity |
| MF | IBA | GO:0004888 | transmembrane signaling receptor activity |
Gene expression in normal tissue: FGFR3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FGFR3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | fgf_pathway | FGF signaling pathway |
| pid | syndecan_1_pathway | Syndecan-1-mediated signaling events |
| pid | syndecan_2_pathway | Syndecan-2-mediated signaling events |
| pid | syndecan_3_pathway | Syndecan-3-mediated signaling events |
| pharmgkb | PA165980050 | Vemurafenib Pathway, Pharmacodynamics |
| pharmgkb | PA165980050 | update your name in edit mode |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FGFR3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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