FGF10
Fibroblast Growth Factor 10: A Key Regulator of Embryonic Development and Organogenesis
Gene Information Card
| Symbol | FGF10 |
|---|---|
| Full Name | Fibroblast Growth Factor 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p12 |
| NCBI Gene ID | 2255 ncbi.nlm.nih.gov/gene/2255 |
| Ensembl ID | ENSG00000070193 |
| UniProt ID | O15520 |
| OMIM ID | 602115 |
| HGNC ID | 3666 |
| Aliases | FGF-10, KGF-2, fibroblast growth factor 10 |
Description
FGF10 (Fibroblast Growth Factor 10) is a member of the fibroblast growth factor (FGF) family. It encodes a secreted signaling protein that plays a critical role in embryonic development, particularly in the formation of limbs, lungs, lacrimal glands, and salivary glands. FGF10 acts through FGF receptors (FGFR1b and FGFR2b) to regulate cell proliferation, differentiation, and morphogenesis. Mutations in FGF10 are associated with developmental disorders such as LADD syndrome (Lacrimo-Auriculo-Dento-Digital syndrome) and isolated lacrimal gland aplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| LADD syndrome (Lacrimo-Auriculo-Dento-Digital syndrome) | Loss-of-function mutations in FGF10 disrupt FGFR2b signaling, leading to impaired development of lacrimal glands, ears, teeth, and digits. | ClinVar, OMIM |
| Aplasia of lacrimal and salivary glands (ALSG) | Heterozygous missense or nonsense mutations in FGF10 cause reduced FGF10 activity, resulting in absent or hypoplastic lacrimal and salivary glands. | OMIM, NCBI |
| Chronic obstructive pulmonary disease (COPD) | FGF10 polymorphisms may alter lung repair and regeneration, contributing to COPD susceptibility. | NCBI, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | High |
| Salivary gland | 10.2 | High |
| Kidney | 6.8 | Medium |
| Prostate | 5.1 | Medium |
| Skin | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 8.7 | High expression |
| HEK 293 (embryonic kidney) | 4.2 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296G>A (p.Arg99Gln) | Missense | Rare | Reduced FGF10 secretion and signaling; associated with LADD syndrome |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of FGF10 function; causes severe LADD syndrome |
| c.463C>T (p.Arg155*) | Nonsense | Rare | Premature truncation; loss of function; associated with ALSG |
Mutation functional classification
Loss of Function (LOF)
Most FGF10 mutations are loss-of-function, leading to haploinsufficiency or reduced protein activity, impairing FGFR2b signaling and causing developmental defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FGF10.
Dominant Negative (DN)
Some missense mutations (e.g., p.Arg99Gln) may act in a dominant-negative manner by interfering with wild-type FGF10 dimerization or receptor binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (KEGG: hsa04010)
• MAPK signaling pathway (KEGG: hsa04010)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
FGF10 is a 208-amino acid secreted protein with a core FGF domain. It binds specifically to FGFR1b and FGFR2b isoforms, activating downstream signaling cascades including RAS-MAPK and PI3K-AKT. FGF10 is essential for epithelial-mesenchymal interactions during organogenesis, particularly in branching morphogenesis of the lung and salivary glands. The protein is synthesized as a precursor with a signal peptide (residues 1-39) that is cleaved to produce the mature, active form.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF10 Knockout HEK293 Cell Line | EDJ-KQ649 | Human | 2255 | Details Get a Quote |
| FGF10 Knockout HeLa Cell Line | EDJ-KQ53228 | Human | 2255 | Details Get a Quote |
| FGF10 Knockout A-549 Cell Line | EDJ-KQ61706 | Human | 2255 | Details Get a Quote |
| FGF10 Knockout HCT 116 Cell Line | EDJ-KQ70192 | Human | 2255 | Details Get a Quote |
| FGF10 (p.N129S) Point Mutation in HAP1 Cell Line | EDC03484 | Human | 2255 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
