FGF18: Fibroblast Growth Factor 18
Key regulator of skeletal development, chondrogenesis, and cell signaling
Gene Information Card
| Symbol | FGF18 |
|---|---|
| Full Name | Fibroblast Growth Factor 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 8817 ncbi.nlm.nih.gov/gene/8817 |
| Ensembl ID | ENSG00000156427 |
| UniProt ID | O76093 |
| OMIM ID | 603726 |
| HGNC ID | 3674 |
| Aliases | FGF-18, ZFGF5 |
Description
FGF18 (Fibroblast Growth Factor 18) is a member of the fibroblast growth factor (FGF) family. It encodes a secreted signaling protein that binds to FGF receptors (FGFR3 and FGFR2) to regulate cell proliferation, differentiation, and migration. FGF18 plays a critical role in skeletal development, chondrogenesis, and osteogenesis. It is also implicated in cancer progression and tissue repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | FGF18 promotes chondrocyte proliferation and cartilage repair; dysregulation contributes to cartilage degradation | ClinVar, PubMed |
| Synovial sarcoma | FGF18 overexpression is associated with tumor growth and invasion | COSMIC, PubMed |
| Colorectal cancer | FGF18 acts as an oncogene via FGFR signaling, promoting cell proliferation and metastasis | COSMIC, PubMed |
| Lung cancer | FGF18 amplification and overexpression linked to poor prognosis | COSMIC, PubMed |
| Hypochondroplasia | FGF18 mutations may affect FGFR3 signaling, leading to skeletal dysplasia | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | High |
| Cartilage | 9.8 | High |
| Lung | 4.2 | Medium |
| Kidney | 3.1 | Medium |
| Brain | 1.5 | Low |
| Liver | 0.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MG-63 (osteosarcoma) | 15.3 | High expression |
| A549 (lung carcinoma) | 6.7 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| HCT116 (colorectal carcinoma) | 8.4 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.482G>A (p.Arg161Gln) | Missense | <0.1% | Altered receptor binding affinity |
| c.724C>T (p.Arg242Trp) | Missense | <0.1% | Potential loss of function |
| c.1015_1016insA | Frameshift | <0.1% | Truncated protein, likely loss of function |
| Amplification | Copy number gain | 1-2% in cancers | Increased FGF18 expression, oncogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt receptor binding lead to reduced FGF signaling, potentially impairing skeletal development.
Gain of Function (GOF)
Amplifications and certain missense mutations that enhance receptor affinity or stability result in increased FGF18 signaling, contributing to oncogenesis.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for FGF18.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (KEGG: hsa04010)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Ras signaling pathway (KEGG: hsa04014)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
FGF18 is a 207-amino acid secreted protein with a core FGF domain. It binds primarily to FGFR3 and FGFR2, activating downstream MAPK and PI3K-Akt pathways. The protein is essential for endochondral ossification, chondrocyte proliferation, and bone formation. In cancer, FGF18 overexpression promotes tumor growth and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF18 Knockout HEK293 Cell Line | EDJ-KQ1196 | Human | 8817 | Details Get a Quote |
| FGF18 Knockout HCT 116 Cell Line | EDJ-KQ20497 | Human | 8817 | Details Get a Quote |
| FGF18 Knockout HeLa Cell Line | EDJ-KQ55012 | Human | 8817 | Details Get a Quote |
| FGF18 Knockout A-549 Cell Line | EDJ-KQ63494 | Human | 8817 | Details Get a Quote |
