FGF3: Fibroblast Growth Factor 3
A key regulator of embryonic development and oncogenic signaling
Gene Information Card
| Symbol | FGF3 |
|---|---|
| Full Name | Fibroblast Growth Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.3 |
| NCBI Gene ID | 2248 ncbi.nlm.nih.gov/gene/2248 |
| Ensembl ID | ENSG00000102755 |
| UniProt ID | P11487 |
| OMIM ID | 164950 |
| HGNC ID | 3681 |
| Aliases | HBGF-3, INT2, KS3 |
Description
FGF3 (Fibroblast Growth Factor 3) is a member of the fibroblast growth factor family. It encodes a secreted signaling protein that binds to FGF receptors (FGFRs) to regulate cell proliferation, differentiation, and migration. FGF3 is critical for embryonic development, particularly inner ear and limb formation, and is implicated in several cancers due to amplification and overexpression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Deafness, autosomal recessive 98 (DFNB98) | Loss-of-function mutations in FGF3 disrupt inner ear development, leading to sensorineural hearing loss. | ClinVar, OMIM |
| LADD syndrome (Lacrimo-auriculo-dento-digital) | Heterozygous mutations in FGF3 impair FGFR signaling, causing craniofacial and limb anomalies. | OMIM, ClinVar |
| Breast cancer | FGF3 amplification (11q13 amplicon) leads to overexpression and constitutive FGFR signaling, promoting tumor growth. | COSMIC, NCBI |
| Head and neck squamous cell carcinoma | FGF3 amplification and overexpression contribute to oncogenic transformation and poor prognosis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Breast | 0.8 | Low |
| Esophagus | 0.5 | Low |
| Kidney | 0.3 | Low |
| Lung | 0.2 | Low |
| Ovary | 0.1 | Low |
| Testis | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 0.6 | Low expression |
| K562 (leukemia) | 0.1 | Very low |
| HeLa (cervical cancer) | 0.2 | Low |
| A549 (lung cancer) | 0.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
| c.224G>A (p.Arg75Gln) | Missense | Rare | Impaired receptor binding, associated with DFNB98 |
| c.334C>T (p.Arg112Trp) | Missense | Rare | Reduced secretion, associated with LADD syndrome |
| Amplification | Copy number gain | Frequent in breast and HNSCC | Overexpression, gain of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg75Gln, p.Arg112Trp) impair protein secretion or receptor binding, leading to developmental disorders.
Gain of Function (GOF)
Gene amplification and overexpression in cancers result in enhanced FGFR signaling, promoting cell proliferation.
Dominant Negative (DN)
Not reported for FGF3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (Reactome: R-HSA-190236)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Signaling by FGFR (Reactome: R-HSA-190236)
Protein Summary
FGF3 is a 239-amino acid secreted glycoprotein (UniProt P11487) that belongs to the fibroblast growth factor family. It contains a conserved FGF domain and a signal peptide for secretion. FGF3 binds to FGFRs (especially FGFR1-4) with heparin sulfate as a cofactor, activating downstream pathways such as MAPK and PI3K-Akt. It plays essential roles in embryonic development (inner ear, limb) and is dysregulated in cancer via amplification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF3 Knockout HEK293 Cell Line | EDJ-KQ50271 | Human | 2248 | Details Get a Quote |
| FGF3 Knockout HeLa Cell Line | EDJ-KQ53221 | Human | 2248 | Details Get a Quote |
| FGF3 Knockout A-549 Cell Line | EDJ-KQ61699 | Human | 2248 | Details Get a Quote |
| FGF3 Knockout HCT 116 Cell Line | EDJ-KQ70187 | Human | 2248 | Details Get a Quote |
| FGF3 (p.T136=) Point Mutation in HAP1 Cell Line | EDC03486 | Human | 2248 | Details Get a Quote |
| FGF3 (p.A23=) Point Mutation in HAP1 Cell Line | EDC03487 | Human | 2248 | Details Get a Quote |
