HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FGF3
fibroblast growth factor 3
Chromosome 11 Β· 11q13.3
NCBI Gene: 2248Ensembl: ENSG00000186895.4HGNC: HGNC:3681UniProt: A0A7U3JVY0
54PubMed Papers
21Diseases
0Drugs
26Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
fibroblast growth factor receptor signaling pathwaynegative regulation of cardiac muscle tissue developmentpositive regulation of cell population proliferationprotein bindingdeafness with labyrinthine aplasia, microtia, and microdontiacancerbone development diseasefemale reproductive endometrioid cancer
✦AI Summary

FGF3 (fibroblast growth factor 3) is a growth factor that plays crucial roles in embryonic development and cancer progression. During development, FGF3 is essential for inner ear morphogenesis, hindbrain patterning, and tail formation 1. The protein functions through both classical paracrine signaling and unique intracrine mechanisms via alternative translation initiation sites 1. FGF3 activates fibroblast growth factor receptor (FGFR) signaling pathways and promotes cell proliferation and migration. In disease contexts, FGF3 mutations cause LAMM syndrome, characterized by hearing loss and inner ear malformations 1. FGF3 amplification occurs frequently in various cancers, including 41% of esophageal squamous carcinomas 2, hepatocellular carcinomas 3, and pancreatic adenocarcinomas 4. In cancer models, FGF3 promotes tumor growth through FGFR activation, which can be therapeutically targeted with small molecule inhibitors 2. The gene can be aberrantly activated by mutant transcription factors like KLF4K409Q in meningiomas 5. FGF3's expression is tightly regulated, as its dysregulation contributes to both congenital malformations and oncogenesis 1.

Sources cited
1
FGF3 roles in embryonic development, inner ear morphogenesis, intracrine signaling mechanisms, and association with LAMM syndrome
PMID: 37741710
2
FGF3 amplification in 41% of esophageal squamous carcinomas and therapeutic targeting with FGFR inhibitors
PMID: 37922313
3
FGF3 amplification in hepatocellular carcinomas at advanced tumor stages
PMID: 25822088
4
FGF3 amplification in pancreatic adenocarcinomas
PMID: 35302596
5
FGF3 activation by mutant KLF4K409Q in meningiomas
PMID: 35996584
Disease Associationsβ“˜21
deafness with labyrinthine aplasia, microtia, and microdontiaOpen Targets
0.80Strong
cancerOpen Targets
0.59Moderate
bone development diseaseOpen Targets
0.57Moderate
female reproductive endometrioid cancerOpen Targets
0.46Moderate
hearing lossOpen Targets
0.37Weak
ovarian carcinomaOpen Targets
0.37Weak
Hearing impairmentOpen Targets
0.33Weak
breast adenocarcinomaOpen Targets
0.23Weak
alcohol drinkingOpen Targets
0.22Weak
craniofacial microsomiaOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
depressive disorderOpen Targets
0.13Weak
thoracic aortic aneurysmOpen Targets
0.10Weak
prostate cancerOpen Targets
0.08Suggestive
deafnessOpen Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
hearing loss, autosomal recessiveOpen Targets
0.06Suggestive
hearing loss, autosomal dominant 87Open Targets
0.06Suggestive
hearing loss, autosomal dominant 86Open Targets
0.05Suggestive
hearing loss, autosomal dominant 80Open Targets
0.05Suggestive
Deafness with labyrinthine aplasia, microtia and microdontiaUniProt
Pathogenic Variants26
NM_005247.4(FGF3):c.45del (p.Trp16fs)Pathogenic
not provided|FGF3-related disorder|Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜…β˜†β˜†2025β†’ Residue 16
NM_005247.4(FGF3):c.625C>T (p.Arg209Ter)Pathogenic
not provided|Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜…β˜†β˜†2025β†’ Residue 209
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia|not provided|FGF3-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 95
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia|not provided|FGF3-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 104
NM_005247.4(FGF3):c.2T>G (p.Met1Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1
NM_005247.4(FGF3):c.470T>C (p.Val157Ala)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2025β†’ Residue 157
NM_005247.4(FGF3):c.517C>T (p.Gln173Ter)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2025β†’ Residue 173
NM_005247.4(FGF3):c.220+1G>ALikely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2025
NM_005247.4(FGF3):c.63del (p.Ala23fs)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2025β†’ Residue 23
NM_005247.4(FGF3):c.318T>A (p.Tyr106Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 106
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2024β†’ Residue 66
NM_005247.4(FGF3):c.355G>T (p.Glu119Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 119
NM_005247.4(FGF3):c.221-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_005247.4(FGF3):c.269del (p.Gly90fs)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2022β†’ Residue 90
NM_005247.4(FGF3):c.431del (p.Arg144fs)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜…β˜†β˜†β˜†2022β†’ Residue 144
NM_005247.4(FGF3):c.284G>A (p.Arg95Gln)Likely pathogenic
Hearing impairment
β˜…β˜†β˜†β˜†2019β†’ Residue 95
NM_005247.4(FGF3):c.265del (p.Arg89fs)Likely pathogenic
FGF3-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 89
NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter)Likely pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜†β˜†β˜†β˜†2019β†’ Residue 154
NM_005247.4(FGF3):c.270dup (p.Leu91fs)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜†β˜†β˜†β˜†2016β†’ Residue 91
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys)Pathogenic
Deafness with labyrinthine aplasia, microtia, and microdontia
β˜†β˜†β˜†β˜†2011β†’ Residue 106
View on ClinVar β†—
Related Genes
EGFRProtein interaction100%TGFB1Protein interaction100%BDNFProtein interaction100%NTRK1Protein interaction100%KLProtein interaction100%FN1Protein interaction100%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FGF3EGFRTGFB1BDNFNTRK1KLFN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P11487
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.09 [0.61–1.81]
RankingsWhere FGF3 stands among ~20K protein-coding genes
  • #8,311of 20,598
    Most Researched54
  • #1,947of 5,498
    Most Pathogenic Variants26
  • #16,644of 17,882
    Most Constrained (LOEUF)1.81
Genes detectedFGF3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Primer on FGF3.
PMID: 37741710
Differentiation Β· 2024
1.00
2
Molecular Characterization of KRAS Wild-type Tumors in Patients with Pancreatic Adenocarcinoma.
PMID: 35302596
Clin Cancer Res Β· 2022
0.90
3
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
PMID: 25822088
Nat Genet Β· 2015
0.80
4
Mutated KLF4(K409Q) in meningioma binds STRs and activates
PMID: 35996584
iScience Β· 2022
0.70
5
Functional screening of amplification outlier oncogenes in organoid models of early tumorigenesis.
PMID: 37922313
Cell Rep Β· 2023
0.60