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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FGF4
fibroblast growth factor 4
Chromosome 11 · 11q13.3
NCBI Gene: 2249Ensembl: ENSG00000075388.4HGNC: HGNC:3682UniProt: A0A7U3JW12
62PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mesenchymal cell proliferationfibroblast growth factor receptor signaling pathwaypositive regulation of cell population proliferationregulation of endothelial cell chemotaxis to fibroblast growth factorcancerbone development diseaseneurodegenerative diseasethoracic dysostosis, isolated
✦AI Summary

FGF4 is a fibroblast growth factor that functions as a critical signaling molecule in embryonic development and metabolic homeostasis. During early development, FGF4 works in concert with WNT3A to specify hindgut tissue and, independently, promotes hindgut morphogenesis and intestinal organoid formation from pluripotent stem cells 12. FGF4 also maintains trophoblast stem cell self-renewal in culture 3. Mechanistically, FGF4 signals primarily through FGFR4 to activate distinct downstream pathways depending on tissue context. In hepatocytes, FGF4-FGFR4 signaling activates the AMPK-Caspase 6 axis to enhance fatty acid oxidation and reduce apoptosis 4, while also phosphorylating ERRγ to suppress CYP2E1-mediated oxidative stress 5. In skeletal muscle, FGF4 upregulates GLUT4 surface expression through an AMPKα-dependent, insulin-independent mechanism 6. Hepatically, FGF4 acts as a direct FXR target that paracrinally suppresses bile acid synthesis genes via FGFR4-LRH-1 signaling 7. Clinically, FGF4 shows therapeutic potential in multiple liver pathologies. Loss of hepatic FGF4 exacerbates nonalcoholic fatty liver disease and alcohol-associated liver injury 45, while recombinant FGF4 administration mitigates steatosis and inflammation. In type 2 diabetes, FGF4 demonstrates superior glucose-lowering efficacy compared to FGF21 6. However, in amyotrophic lateral sclerosis, FGF4-mediated astrocyte rescue is limited by TNFα-driven neuroinflammation 8. Mutations in FGF4 are associated with short-rib thoracic dysplasia 22.

Sources cited
1
FGF4 also maintains trophoblast stem cell self-renewal in culture .
PMID: 21106963
2
In hepatocytes, FGF4-FGFR4 signaling activates the AMPK-Caspase 6 axis to enhance fatty acid oxidation and reduce apoptosis , while also phosphorylating ERRγ to suppress CYP2E1-mediated oxidative stress .
PMID: 35152446
3
In hepatocytes, FGF4-FGFR4 signaling activates the AMPK-Caspase 6 axis to enhance fatty acid oxidation and reduce apoptosis , while also phosphorylating ERRγ to suppress CYP2E1-mediated oxidative stress .
PMID: 40009617
4
In skeletal muscle, FGF4 upregulates GLUT4 surface expression through an AMPKα-dependent, insulin-independent mechanism .
PMID: 34907199
5
Hepatically, FGF4 acts as a direct FXR target that paracrinally suppresses bile acid synthesis genes via FGFR4-LRH-1 signaling .
PMID: 39393353
6
However, in amyotrophic lateral sclerosis, FGF4-mediated astrocyte rescue is limited by TNFα-driven neuroinflammation .
PMID: 39362568
Disease Associationsⓘ21
cancerOpen Targets
0.60Moderate
bone development diseaseOpen Targets
0.60Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
thoracic dysostosis, isolatedOpen Targets
0.42Moderate
craniosynostosisOpen Targets
0.37Weak
acrocephalosyndactylyOpen Targets
0.37Weak
female reproductive endometrioid cancerOpen Targets
0.37Weak
ovarian carcinomaOpen Targets
0.37Weak
Abnormality of the liverOpen Targets
0.33Weak
breast adenocarcinomaOpen Targets
0.23Weak
neuroinflammatory disorderOpen Targets
0.18Weak
neoplasmOpen Targets
0.10Suggestive
gastrointestinal stromal tumorOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
diabetic nephropathyOpen Targets
0.07Suggestive
gestational diabetesOpen Targets
0.07Suggestive
cornea transplantationOpen Targets
0.07Suggestive
prostate cancerOpen Targets
0.05Suggestive
lung carcinomaOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
Short-rib thoracic dysplasia 22 without polydactylyUniProt
Pathogenic Variants1
NM_002007.4(FGF4):c.256C>T (p.Leu86Phe)Pathogenic
Thoracic dysostosis, isolated
☆☆☆☆2025→ Residue 86
View on ClinVar ↗
Related Genes
EGFRProtein interaction100%TGFB1Protein interaction100%FGFR1Protein interaction100%FGFR2Protein interaction100%FN1Protein interaction100%KLProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
0%
Brain
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
FGF4EGFRTGFB1FGFR1FGFR2FN1KL
PROTEIN STRUCTURE
Preparing viewer…
PDB1IJT · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.40LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.48–1.40]
RankingsWhere FGF4 stands among ~20K protein-coding genes
  • #7,455of 20,598
    Most Researched62
  • #5,033of 5,498
    Most Pathogenic Variants1
  • #14,474of 17,882
    Most Constrained (LOEUF)1.40
Genes detectedFGF4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro.
PMID: 21151107
Nature · 2011
1.00
2
Hepatic FXR-FGF4 is required for bile acid homeostasis via an FGFR4-LRH-1 signal node under cholestatic stress.
PMID: 39393353
Cell Metab · 2025
0.90
3
Generating human intestinal tissue from pluripotent stem cells in vitro.
PMID: 22082986
Nat Protoc · 2011
0.80
4
TNFα prevents FGF4-mediated rescue of astrocyte dysfunction and reactivity in human ALS models.
PMID: 39362568
Neurobiol Dis · 2024
0.70
5
Repression of the ERRγ-CYP2E1 pathway by FGF4 mitigates alcohol-associated liver injury.
PMID: 40009617
Hepatology · 2025
0.60