FGF20: Fibroblast Growth Factor 20
Key regulator in neurodevelopment and cancer signaling
Gene Information Card
| Symbol | FGF20 |
|---|---|
| Full Name | Fibroblast Growth Factor 20 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8p22 |
| NCBI Gene ID | 26281 ncbi.nlm.nih.gov/gene/26281 |
| Ensembl ID | ENSG00000178537 |
| UniProt ID | Q9NP95 |
| OMIM ID | 605827 |
| HGNC ID | 3677 |
| Aliases | FGF-20, FGFK, UNQ271/PRO308 |
Description
FGF20 encodes fibroblast growth factor 20, a member of the fibroblast growth factor (FGF) family. This protein plays a critical role in embryonic development, particularly in the central nervous system, and is involved in cell proliferation, differentiation, and survival. FGF20 signals through FGF receptors (FGFRs) and is implicated in Parkinson's disease susceptibility and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Parkinson's disease | Genetic variants in FGF20 are associated with increased risk; altered expression may affect dopaminergic neuron survival. | OMIM 605827; NCBI Gene |
| Breast cancer | Overexpression of FGF20 promotes tumor growth and metastasis via FGFR signaling. | COSMIC; PubMed studies |
| Colorectal cancer | FGF20 upregulation correlates with poor prognosis and activates MAPK/ERK pathway. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Heart | 2.1 | Low |
| Kidney | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.3 | High expression; used in neurodevelopment studies |
| MCF7 (breast cancer) | 9.7 | Moderate expression; linked to cancer progression |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12720208 | SNP (intronic) | 0.23 (global) | Associated with altered FGF20 expression and Parkinson's disease risk |
| c.344G>A (p.Arg115His) | Missense | Rare | Potential impact on protein stability; reported in cancer samples |
| c.487C>T (p.Pro163Ser) | Missense | Rare | Unknown functional effect; observed in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression and amplification in cancers suggest gain-of-function role in tumorigenesis.
Dominant Negative (DN)
Not documented for FGF20.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Ras signaling pathway (KEGG: hsa04014)
• FGF signaling pathway (Reactome: R-HSA-190236)
Protein Summary
FGF20 is a 211-amino acid secreted protein that binds to FGF receptors (FGFR1-4) to activate downstream signaling cascades, including MAPK and PI3K-Akt pathways. It is essential for normal brain development, particularly in the substantia nigra, and its dysregulation contributes to neurodegenerative diseases and cancer. The protein structure includes a conserved FGF core domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF20 Knockout HEK293 Cell Line | EDJ-KQ661 | Human | 26281 | Details Get a Quote |
| FGF20 Knockout HeLa Cell Line | EDJ-KQ55920 | Human | 26281 | Details Get a Quote |
| FGF20 Knockout A-549 Cell Line | EDJ-KQ64410 | Human | 26281 | Details Get a Quote |
| FGF20 Knockout HCT 116 Cell Line | EDJ-KQ72862 | Human | 26281 | Details Get a Quote |
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