FGF17: Fibroblast Growth Factor 17
A key regulator in embryonic development and neurogenesis, with implications in cancer and genetic disorders.
Gene Information Card
| Symbol | FGF17 |
|---|---|
| Full Name | Fibroblast Growth Factor 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 8822 ncbi.nlm.nih.gov/gene/8822 |
| Ensembl ID | ENSG00000158815 |
| UniProt ID | O60258 |
| OMIM ID | 603725 |
| HGNC ID | 3673 |
| Aliases | FGF-17, FGF17A, FGF17B |
Description
FGF17 (Fibroblast Growth Factor 17) is a member of the fibroblast growth factor (FGF) family, involved in embryonic development, cell growth, morphogenesis, and tissue repair. It plays a critical role in brain development, particularly in the isthmic organizer regulating midbrain and cerebellar patterning. FGF17 signaling through FGF receptors (FGFRs) activates MAPK and PI3K pathways. Aberrant expression or mutations are linked to neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypogonadotropic Hypogonadism 20 with or without Anosmia | Loss-of-function mutations impair FGF17 signaling, disrupting GnRH neuron development and migration. | OMIM #615270; ClinVar |
| Prostate Cancer | Overexpression of FGF17 promotes tumor growth and angiogenesis via autocrine/paracrine FGFR signaling. | COSMIC; PMID: 14525967 |
| Breast Cancer | FGF17 amplification or overexpression correlates with poor prognosis and endocrine therapy resistance. | COSMIC; PMID: 21258371 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
| Kidney | 0.2 | Not detected |
| Testis | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 1.5 | Neuronal lineage |
| MCF7 (breast cancer) | 2.3 | Overexpressed in some breast cancers |
| PC3 (prostate cancer) | 3.1 | Overexpressed in prostate cancer |
| HEK293 (embryonic kidney) | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.358C>T (p.Arg120Cys) | Missense | Rare | Loss of function; associated with hypogonadotropic hypogonadism |
| c.461G>A (p.Arg154His) | Missense | Rare | Loss of function; impaired FGFR binding |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein production |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg120Cys, p.Arg154His) and start-loss variants reduce or abolish FGF17 signaling, leading to hypogonadotropic hypogonadism.
Gain of Function (GOF)
Not well documented; overexpression in cancers may act as a gain-of-function through increased signaling.
Dominant Negative (DN)
Not reported for FGF17.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (Reactome: R-HSA-5673001)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• FGFR signaling pathway (Reactome: R-HSA-190236)
• Signaling by FGF (Reactome: R-HSA-190236)
Protein Summary
FGF17 is a secreted growth factor of approximately 22 kDa, containing a conserved FGF core domain. It binds to FGFRs (especially FGFR1c and FGFR2c) with heparin sulfate as a cofactor, activating downstream signaling cascades. The protein is involved in embryonic patterning, neurogenesis, and angiogenesis. Structural mutations in the core domain disrupt receptor binding and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF17 Knockout HEK293 Cell Line | EDJ-KQ1194 | Human | 8822 | Details Get a Quote |
| FGF17 Knockout HeLa Cell Line | EDJ-KQ55013 | Human | 8822 | Details Get a Quote |
| FGF17 Knockout A-549 Cell Line | EDJ-KQ63495 | Human | 8822 | Details Get a Quote |
| FGF17 Knockout HCT 116 Cell Line | EDJ-KQ71964 | Human | 8822 | Details Get a Quote |
