FGF8: Fibroblast Growth Factor 8
Key regulator in embryonic development, organogenesis, and cancer signaling
Gene Information Card
| Symbol | FGF8 |
|---|---|
| Full Name | Fibroblast Growth Factor 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 2253 ncbi.nlm.nih.gov/gene/2253 |
| Ensembl ID | ENSG00000107831 |
| UniProt ID | P55075 |
| OMIM ID | 600483 |
| HGNC ID | 3686 |
| Aliases | AIGF, FGF-8, HBGF-8, KAL6, FGF8B, FGF8A, FGF8E, FGF8F, FGF8G, FGF8H |
Description
FGF8 (Fibroblast Growth Factor 8) encodes a member of the fibroblast growth factor (FGF) family. This protein plays a critical role in embryonic development, including brain, limb, and craniofacial morphogenesis, as well as in adult tissue homeostasis. FGF8 signals through FGF receptors (FGFRs) and is involved in cell proliferation, differentiation, and migration. Dysregulation of FGF8 is associated with several congenital disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kallmann syndrome 6 (KAL6) | Loss-of-function mutations in FGF8 impair GnRH neuron migration and olfactory bulb development, leading to hypogonadotropic hypogonadism and anosmia. | ClinVar, OMIM |
| Holoprosencephaly (HPE) | FGF8 mutations disrupt forebrain midline patterning, causing incomplete separation of cerebral hemispheres. | OMIM, NCBI |
| Breast cancer | FGF8 overexpression activates FGFR signaling, promoting tumor growth, angiogenesis, and metastasis. | COSMIC, NCBI |
| Prostate cancer | FGF8 amplification and overexpression correlate with androgen-independent progression and poor prognosis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Kidney | 2.1 | Low |
| Liver | 0.5 | Not detected |
| Lung | 1.3 | Not detected |
| Ovary | 4.7 | Low |
| Testis | 6.9 | Medium |
| Breast | 3.0 | Low |
| Prostate | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 8.5 | High expression; associated with estrogen receptor signaling |
| LNCaP (prostate cancer) | 6.2 | Moderate expression; androgen-regulated |
| HEK293 (embryonic kidney) | 2.3 | Low baseline expression |
| SH-SY5Y (neuroblastoma) | 4.8 | Moderate expression; relevant to neural development |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296C>T (p.Pro99Leu) | Missense | Rare | Loss of function; associated with Kallmann syndrome |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; associated with holoprosencephaly |
| c.676G>A (p.Glu226Lys) | Missense | Rare | Gain of function; reported in breast cancer |
| Amplification | Copy number gain | <1% in cancers | Overexpression; observed in prostate and breast cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro99Leu, p.Met1Val) reduce FGF8 binding affinity to FGFRs, impairing downstream signaling critical for development.
Gain of Function (GOF)
Missense mutations (e.g., p.Glu226Lys) enhance FGF8 stability or receptor activation, promoting oncogenic signaling.
Dominant Negative (DN)
Not well documented for FGF8; most reported mutations are loss-of-function or gain-of-function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (KEGG: hsa04010)
• MAPK signaling pathway (KEGG: hsa04010)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Ras signaling pathway (KEGG: hsa04014)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
FGF8 is a secreted heparin-binding growth factor of approximately 22-28 kDa, depending on alternative splicing. It contains a conserved FGF core domain and a signal peptide for secretion. FGF8 binds to FGFR1c, FGFR2c, FGFR3c, and FGFR4 with high affinity, requiring heparan sulfate proteoglycans as co-receptors. The protein is essential for patterning of the midbrain-hindbrain boundary, limb bud initiation, and craniofacial development. In adults, FGF8 is expressed at low levels in several tissues and is implicated in hormone-sensitive cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF8 Knockout HEK293 Cell Line | EDJ-KQ664 | Human | 2253 | Details Get a Quote |
| FGF8 Knockout HCT 116 Cell Line | EDJ-KQ19173 | Human | 2253 | Details Get a Quote |
| FGF8 Knockout HeLa Cell Line | EDJ-KQ53226 | Human | 2253 | Details Get a Quote |
| FGF8 Knockout A-549 Cell Line | EDJ-KQ61704 | Human | 2253 | Details Get a Quote |
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