FGF6 Gene: Fibroblast Growth Factor 6
Key regulator of muscle development, angiogenesis, and potential oncogenic driver
Gene Information Card
| Symbol | FGF6 |
|---|---|
| Full Name | Fibroblast Growth Factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.32 |
| NCBI Gene ID | 2251 ncbi.nlm.nih.gov/gene/2251 |
| Ensembl ID | ENSG00000111241 |
| UniProt ID | P10767 |
| OMIM ID | 134921 |
| HGNC ID | 3684 |
| Aliases | HST2, HBGF-6 |
Description
FGF6 (Fibroblast Growth Factor 6) is a member of the fibroblast growth factor (FGF) family. It encodes a secreted protein that binds to FGF receptors (FGFRs) and plays a critical role in embryonic development, cell proliferation, differentiation, and angiogenesis. FGF6 is particularly important for skeletal muscle regeneration and maintenance. Aberrant expression and mutations in FGF6 have been implicated in several cancers, including prostate, breast, and gastric cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression and amplification of FGF6 may promote tumor growth and angiogenesis via FGFR signaling | COSMIC; NCBI Gene |
| Breast cancer | FGF6 upregulation associated with poor prognosis; potential autocrine/paracrine loop | NCBI Gene; PubMed |
| Gastric cancer | FGF6 overexpression linked to tumor progression and metastasis | NCBI Gene; PubMed |
| Skeletal muscle disorders | FGF6 mutations may impair muscle regeneration; role in muscular dystrophy | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Prostate | 6.1 | Low |
| Breast | 4.7 | Low |
| Stomach | 3.9 | Low |
| Lung | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.2 | Moderate expression |
| PC3 (prostate cancer) | 7.8 | Elevated expression |
| A549 (lung cancer) | 1.5 | Low expression |
| HepG2 (liver cancer) | 2.3 | Low expression |
| K562 (leukemia) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% | Unknown; may alter receptor binding |
| c.487G>A (p.Gly163Arg) | Missense | 0.01% | Predicted damaging; potential loss of function |
| c.112A>G (p.Asn38Asp) | Missense | 0.005% | Unknown significance |
| Amplification | Copy number gain | 2-5% in prostate cancer | Increased expression; oncogenic potential |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Gly163Arg) predicted to disrupt protein folding or receptor interaction, leading to reduced signaling.
Gain of Function (GOF)
Gene amplification and overexpression in cancers result in enhanced FGFR signaling, promoting cell proliferation and angiogenesis.
Dominant Negative (DN)
No dominant-negative mutations reported in FGF6 to date.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (hsa04010)
• Ras signaling pathway (hsa04014)
• PI3K-Akt signaling pathway (hsa04151)
• Regulation of actin cytoskeleton (hsa04810)
• FGF signaling pathway (WP21)
Protein Summary
FGF6 is a 208-amino-acid secreted protein (UniProt P10767) belonging to the FGF family. It contains a conserved FGF domain and a signal peptide for secretion. The mature protein binds to FGFR1c, FGFR2c, and FGFR4 with high affinity, activating downstream signaling cascades such as MAPK and PI3K-Akt. FGF6 is primarily expressed in skeletal muscle and heart, where it regulates myogenesis and muscle repair. In cancer, FGF6 can act as an oncogene through autocrine/paracrine stimulation of tumor growth and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF6 Knockout HEK293 Cell Line | EDJ-KQ168 | Human | 2251 | Details Get a Quote |
| FGF6 Knockout HeLa Cell Line | EDJ-KQ53224 | Human | 2251 | Details Get a Quote |
| FGF6 Knockout A-549 Cell Line | EDJ-KQ61702 | Human | 2251 | Details Get a Quote |
| FGF6 Knockout HCT 116 Cell Line | EDJ-KQ70190 | Human | 2251 | Details Get a Quote |
| FGF6 (p.V139=) Point Mutation in HAP1 Cell Line | EDC03318 | Human | 2251 | Details Get a Quote |
| FGF6 (p.T122=) Point Mutation in HAP1 Cell Line | EDC03319 | Human | 2251 | Details Get a Quote |
| FGF6 (p.G108=) Point Mutation in HAP1 Cell Line | EDC03320 | Human | 2251 | Details Get a Quote |
| FGF6 (p.V36A) Point Mutation in HAP1 Cell Line | EDC03321 | Human | 2251 | Details Get a Quote |
| FGF6 (c.450+115G>C )Point Mutation in HAP1 Cell Line | EDC03317 | Human | 2251 | Details Get a Quote |
