FGFR3 Gene: Fibroblast Growth Factor Receptor 3
Key regulator of bone development and oncogenic driver in bladder cancer and multiple myeloma
Gene Information Card
| Symbol | FGFR3 |
|---|---|
| Full Name | Fibroblast growth factor receptor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 2261 ncbi.nlm.nih.gov/gene/2261 |
| Ensembl ID | ENSG00000068078 |
| UniProt ID | P22607 |
| OMIM ID | 134934 |
| HGNC ID | 3690 |
| Aliases | ACH, CEK2, JTK4, HSFGFR3EX |
Description
FGFR3 encodes a member of the fibroblast growth factor receptor family, a transmembrane tyrosine kinase receptor that binds fibroblast growth factors. It plays a critical role in cell proliferation, differentiation, and bone development. Mutations in FGFR3 cause various skeletal dysplasias and are implicated in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Achondroplasia | Gain-of-function mutations (e.g., G380R) lead to constitutive activation, inhibiting chondrocyte proliferation. | OMIM #100800; ClinVar |
| Thanatophoric dysplasia | Severe gain-of-function mutations (e.g., K650E) cause constitutive activation, leading to lethal skeletal dysplasia. | OMIM #187600; ClinVar |
| Bladder cancer | Activating mutations (e.g., S249C) promote oncogenic signaling, often in non-muscle-invasive tumors. | COSMIC; ClinVar |
| Multiple myeloma | Translocations t(4;14) upregulate FGFR3 expression, contributing to tumor growth. | COSMIC; OMIM #254500 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | High | High expression in chondrocytes |
| Kidney | Moderate | Moderate expression in renal tubules |
| Skin | Low | Low expression in keratinocytes |
| Brain | Low | Low expression in specific regions |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RT4 | High | Bladder cancer cell line with FGFR3 mutation |
| KMS-11 | High | Myeloma cell line with t(4;14) |
| HEK293 | Low | Embryonic kidney cells, low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| G380R | Missense | ~98% of achondroplasia cases | Constitutive activation |
| S249C | Missense | Common in bladder cancer | Ligand-independent activation |
| K650E | Missense | Thanatophoric dysplasia type II | Strong constitutive activation |
| Y373C | Missense | Thanatophoric dysplasia type I | Aberrant disulfide bonding, activation |
Mutation functional classification
Loss of Function (LOF)
Rare; may lead to mild skeletal abnormalities or craniosynostosis in some contexts.
Gain of Function (GOF)
Most common; constitutive activation leads to skeletal dysplasias and cancer.
Dominant Negative (DN)
Not typically described for FGFR3; most mutations are activating.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • fibroblast growth factor binding |
| • protein tyrosine kinase activity | • transmembrane receptor protein tyrosine kinase signaling pathway |
| • cell proliferation | • bone development |
Pathways
• MAPK signaling pathway
• PI3K-Akt signaling pathway
• Ras signaling pathway
• FGFR3 signaling in skeletal development
Protein Summary
FGFR3 is a single-pass type I membrane protein with an extracellular region containing three immunoglobulin-like domains, a transmembrane domain, and an intracellular tyrosine kinase domain. Upon ligand binding, it dimerizes and autophosphorylates, activating downstream signaling cascades. It negatively regulates bone growth by limiting chondrocyte proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGFR3 Knockout HEK293 Cell Line | EDJ-KQ17818 | Human | 2261 | Details Get a Quote |
| FGFR3 Knockout A-549 Cell Line | EDJ-KQ19179 | Human | 2261 | Details Get a Quote |
| FGFR3 Knockout HCT 116 Cell Line | EDJ-KQ19180 | Human | 2261 | Details Get a Quote |
| FGFR3 Knockout HeLa Cell Line | EDJ-KQ19181 | Human | 2261 | Details Get a Quote |
| Fgfr3 Knockout RAW 264.7 Cell Line | EDJ-KZ254 | Mouse | 14184 | Details Get a Quote |
| FGFR3 (p.R248C) Point Mutation in HCT 116 Cell Line | EDC03075 | Human | 2261 | Details Get a Quote |
| FGFR3 (p.Y373C) Point Mutation in HCT 116 Cell Line | EDC03175 | Human | 2261 | Details Get a Quote |
| FGFR3 (p.N294=) Point Mutation in HAP1 Cell Line | EDC03490 | Human | 2261 | Details Get a Quote |
| FGFR3 (c.616-40T>C )Point Mutation in HAP1 Cell Line | EDC03489 | Human | 2261 | Details Get a Quote |
Displaying Records 1 To 9 Of 9 Records
