FGF5: Fibroblast Growth Factor 5
A key regulator of hair growth and cell signaling, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | FGF5 |
|---|---|
| Full Name | Fibroblast Growth Factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.21 |
| NCBI Gene ID | 2256 ncbi.nlm.nih.gov/gene/2256 |
| Ensembl ID | ENSG00000138675 |
| UniProt ID | P12034 |
| OMIM ID | 165190 |
| HGNC ID | 3684 |
| Aliases | HBGF-5, Smag-82 |
Description
FGF5 (Fibroblast Growth Factor 5) encodes a member of the fibroblast growth factor (FGF) family. The encoded protein functions as a secreted signaling molecule that regulates cell proliferation, differentiation, and migration. FGF5 is notably involved in the hair growth cycle, where it promotes the transition from anagen to catagen, thereby limiting hair length. Mutations in FGF5 are associated with trichomegaly (long eyelashes) and have been implicated in various cancers, including breast and prostate cancer, through aberrant signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Trichomegaly (long eyelashes) | Loss-of-function mutations in FGF5 disrupt the hair cycle, prolonging the anagen phase and resulting in abnormally long eyelashes. | OMIM #190330; ClinVar |
| Breast cancer | Overexpression of FGF5 in tumor cells promotes angiogenesis and proliferation via FGFR signaling. | COSMIC; PubMed studies |
| Prostate cancer | FGF5 upregulation correlates with disease progression and androgen-independent growth. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.8 | Low |
| Hair follicle | 2.1 | Medium |
| Brain | 1.5 | Low |
| Heart | 0.3 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 1.2 | Moderate expression |
| MCF7 (breast cancer) | 3.5 | Overexpressed |
| PC3 (prostate cancer) | 2.8 | Overexpressed |
| HEK293 | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.163C>T (p.Arg55*) | Nonsense | Rare | Loss of function; associated with trichomegaly |
| c.374G>A (p.Arg125His) | Missense | Rare | Unknown functional effect |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations in FGF5 lead to truncated or absent protein, resulting in prolonged anagen phase and trichomegaly.
Gain of Function (GOF)
Overexpression of wild-type FGF5 in cancers (e.g., breast, prostate) acts as an oncogenic driver via FGFR signaling.
Dominant Negative (DN)
No dominant-negative mutations have been reported for FGF5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGFR signaling pathway (Reactome: R-HSA-190236)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Regulation of hair cycle (Reactome: R-HSA-2559582)
Protein Summary
FGF5 is a 268-amino acid secreted glycoprotein (UniProt P12034) that belongs to the fibroblast growth factor family. It contains a conserved FGF domain and a signal peptide for secretion. The mature protein binds to fibroblast growth factor receptors (FGFRs), particularly FGFR1 and FGFR2, initiating downstream signaling cascades such as MAPK and PI3K-Akt. FGF5 is critical for hair cycle regulation; its absence prolongs hair growth. In cancer, FGF5 overexpression contributes to tumor progression and angiogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF5 Knockout HEK293 Cell Line | EDJ-KQ663 | Human | 2250 | Details Get a Quote |
| FGF5 Knockout HeLa Cell Line | EDJ-KQ53223 | Human | 2250 | Details Get a Quote |
| FGF5 Knockout A-549 Cell Line | EDJ-KQ61701 | Human | 2250 | Details Get a Quote |
| FGF5 Knockout HCT 116 Cell Line | EDJ-KQ70189 | Human | 2250 | Details Get a Quote |
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