FGF16: Fibroblast Growth Factor 16
Key regulator in embryonic development and cancer signaling
Gene Information Card
| Symbol | FGF16 |
|---|---|
| Full Name | Fibroblast Growth Factor 16 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq21.1 |
| NCBI Gene ID | 8823 ncbi.nlm.nih.gov/gene/8823 |
| Ensembl ID | ENSG00000196468 |
| UniProt ID | O43320 |
| OMIM ID | 300827 |
| HGNC ID | 3672 |
| Aliases | FGF-16, FGFG3 |
Description
FGF16 encodes a member of the fibroblast growth factor (FGF) family. FGF16 is involved in embryonic development, cell growth, morphogenesis, and tissue repair. It signals through FGF receptors (FGFRs) and plays a critical role in heart and limb development. Mutations in FGF16 are associated with skeletal abnormalities and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metacarpal 4-5 fusion | Loss-of-function mutations disrupt FGF signaling during limb bud development, leading to bone fusion. | OMIM #309630 |
| Breast cancer | Overexpression of FGF16 promotes tumor growth and angiogenesis via FGFR signaling. | COSMIC; PMID: 23454898 |
| Prostate cancer | FGF16 upregulation correlates with disease progression and androgen independence. | PMID: 20010871 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Brain | 5.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression |
| PC3 (prostate cancer) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | Rare | Loss of function; associated with metacarpal fusion |
| c.447G>A (p.Trp149*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations in FGF16 reduce or abolish protein function, leading to skeletal defects.
Gain of Function (GOF)
Not well documented; overexpression in tumors suggests potential gain-of-function in cancer.
Dominant Negative (DN)
No dominant-negative mutations reported for FGF16.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (KEGG: hsa04010)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
FGF16 is a 207-amino acid secreted growth factor that binds to FGFRs (especially FGFR1c and FGFR2c) to activate downstream signaling cascades including MAPK and PI3K-Akt. It is essential for heart and limb development and is implicated in cancer progression when dysregulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF16 Knockout HEK293 Cell Line | EDJ-KQ167 | Human | 8823 | Details Get a Quote |
| FGF16 Knockout HeLa Cell Line | EDJ-KQ55014 | Human | 8823 | Details Get a Quote |
| FGF16 Knockout A-549 Cell Line | EDJ-KQ63496 | Human | 8823 | Details Get a Quote |
| FGF16 Knockout HCT 116 Cell Line | EDJ-KQ71965 | Human | 8823 | Details Get a Quote |
