FGF21 (Fibroblast Growth Factor 21)
A key metabolic regulator involved in energy homeostasis, insulin sensitivity, and lipid metabolism.
Gene Information Card
| Symbol | FGF21 |
|---|---|
| Full Name | Fibroblast Growth Factor 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 26291 ncbi.nlm.nih.gov/gene/26291 |
| Ensembl ID | ENSG00000105550 |
| UniProt ID | Q9NSA1 |
| OMIM ID | 609436 |
| HGNC ID | 3678 |
| Aliases | FGF-21 |
Description
FGF21 (Fibroblast Growth Factor 21) encodes a member of the fibroblast growth factor (FGF) family. FGF21 functions as a hormone that regulates glucose and lipid metabolism, energy expenditure, and insulin sensitivity. It is primarily expressed in the liver, adipose tissue, and pancreas, and acts through FGF receptors (FGFR1c, FGFR2c, FGFR3c) in complex with the co-receptor beta-klotho (KLB). FGF21 has emerged as a therapeutic target for metabolic disorders such as obesity, type 2 diabetes, and non-alcoholic fatty liver disease (NAFLD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | FGF21 resistance or deficiency impairs energy expenditure and promotes adiposity. | ClinVar; PMID: 23392654 |
| Type 2 Diabetes | Reduced FGF21 signaling contributes to insulin resistance and hyperglycemia. | ClinVar; PMID: 23392654 |
| Non-alcoholic Fatty Liver Disease (NAFLD) | FGF21 protects against hepatic steatosis by enhancing fatty acid oxidation and reducing lipogenesis. | ClinVar; PMID: 23392654 |
| Lipodystrophy | FGF21 deficiency exacerbates metabolic complications in lipodystrophic states. | OMIM 609436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Adipose Tissue | 4.1 | Medium |
| Pancreas | 2.8 | Medium |
| Skeletal Muscle | 0.9 | Low |
| Heart | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 8.7 | Hepatocellular carcinoma cell line |
| 3T3-L1 (adipocyte) | 5.2 | Differentiated adipocytes |
| MIN6 (pancreatic beta) | 3.1 | Mouse insulinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; reduced protein expression |
| c.331C>T (p.Arg111Cys) | Missense | <0.01% | Impaired receptor binding; reduced activity |
| c.494G>A (p.Arg165His) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce FGF21 secretion or receptor binding (e.g., p.Met1?, p.Arg111Cys) are associated with metabolic dysfunction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in human populations.
Dominant Negative (DN)
No dominant-negative mutations described for FGF21.
View complete mutation data：
Gene Ontology (GO)
Pathways
• FGF signaling pathway (KEGG: hsa04010)
• AMPK signaling pathway (KEGG: hsa04152)
• PPAR signaling pathway (KEGG: hsa03320)
• Insulin signaling pathway (KEGG: hsa04910)
Protein Summary
FGF21 is a 209-amino acid secreted protein (mature form: 181 residues) that belongs to the FGF19 subfamily. It lacks the conventional heparin-binding domain, allowing it to act as an endocrine factor. FGF21 binds to FGFR1c, FGFR2c, or FGFR3c in complex with the co-receptor beta-klotho (KLB), activating downstream MAPK/ERK and PI3K/AKT pathways. It plays a critical role in regulating glucose uptake, lipid oxidation, ketogenesis, and energy expenditure. Recombinant FGF21 analogs are under investigation for treating metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FGF21 Knockout HEK293 Cell Line | EDJ-KQ17774 | Human | 26291 | Details Get a Quote |
| FGF21 Knockout HeLa Cell Line | EDJ-KQ55926 | Human | 26291 | Details Get a Quote |
| FGF21 Knockout A-549 Cell Line | EDJ-KQ64414 | Human | 26291 | Details Get a Quote |
| FGF21 Knockout HCT 116 Cell Line | EDJ-KQ72868 | Human | 26291 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
