FGF22: Fibroblast Growth Factor 22
Key regulator of synapse development and neuronal plasticity
Gene Information Card
| Symbol | FGF22 |
|---|---|
| Full Name | Fibroblast Growth Factor 22 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 27006 ncbi.nlm.nih.gov/gene/27006 |
| Ensembl ID | ENSG00000170835 |
| UniProt ID | Q9HCT0 |
| OMIM ID | 609001 |
| HGNC ID | 3679 |
| Aliases | FGF-22, FGF22_HUMAN |
Description
FGF22 (Fibroblast Growth Factor 22) is a member of the fibroblast growth factor (FGF) family. It is primarily expressed in the nervous system and plays a critical role in synapse development, particularly in the formation of excitatory synapses. FGF22 acts as a presynaptic organizer, promoting the differentiation of presynaptic terminals. It is also involved in neuronal plasticity and has been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered FGF22 signaling may disrupt synapse formation and neuronal connectivity, contributing to conditions such as autism spectrum disorder and intellectual disability. | ClinVar, OMIM |
| Epilepsy | Dysregulation of FGF22-mediated synaptic organization may lead to abnormal neuronal excitability and seizure susceptibility. | ClinVar, OMIM |
| Cancer (e.g., breast, lung) | FGF22 overexpression or amplification can promote tumor growth and metastasis through aberrant FGF receptor signaling. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.2 | Medium |
| Hippocampus | 18.7 | Medium |
| Cerebellum | 8.3 | Low |
| Spinal cord | 6.1 | Low |
| Testis | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.2 | Neuronal model |
| U-87 MG (glioblastoma) | 7.8 | Glial model |
| HEK293 (embryonic kidney) | 3.1 | Low expression |
| MCF7 (breast cancer) | 5.6 | Cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.488G>A (p.Arg163Gln) | Missense | <0.01% | Potentially damaging; associated with neurodevelopmental phenotypes |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) are predicted to abolish protein translation, leading to loss of FGF22 function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
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)
• Synapse organization (GO:0050808)
Protein Summary
FGF22 is a secreted growth factor of approximately 22 kDa. It contains a conserved FGF domain and binds to fibroblast growth factor receptors (FGFRs), particularly FGFR2 and FGFR3, to activate downstream signaling cascades including MAPK and PI3K-Akt. In the nervous system, FGF22 is localized to presynaptic terminals and is essential for the formation and maintenance of excitatory synapses. Its expression is enriched in the brain, especially in the hippocampus and cerebral cortex. FGF22 has also been implicated in cancer, where aberrant expression may contribute to tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF22 Knockout HEK293 Cell Line | EDJ-KQ51196 | Human | 27006 | Details Get a Quote |
| FGF22 Knockout HeLa Cell Line | EDJ-KQ55980 | Human | 27006 | Details Get a Quote |
| FGF22 Knockout A-549 Cell Line | EDJ-KQ64464 | Human | 27006 | Details Get a Quote |
| FGF22 Knockout HCT 116 Cell Line | EDJ-KQ72922 | Human | 27006 | Details Get a Quote |
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