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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.
FGF5
fibroblast growth factor 5
Chromosome 4 Β· 4q21.21
NCBI Gene: 2250Ensembl: ENSG00000138675.17HGNC: HGNC:3683UniProt: P12034
70PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneOncogene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
fibroblast growth factor receptor signaling pathwaypositive regulation of cell population proliferationfibroblast growth factor receptor bindingneurogenesishypertensioncancerbone development diseasetrichomegaly
✦AI Summary

FGF5 (fibroblast growth factor 5) functions primarily as a negative regulator of the hair growth cycle in mammals. It is expressed in the outer root sheath of hair follicles during the late anagen phase and mediates the transition from the anagen growth phase to the catagen regression phase 1. In humans, inherited FGF5 mutations result in trichomegaly, characterized by abnormally long eyelashes 1. Beyond hair regulation, FGF5 plays roles in broader physiological processes. During embryonic development, it appears as a transient marker of the epiblast-like stage during neural induction from human embryonic stem cells 2. FGF5 also has clinical significance in cardiovascular and kidney diseases. Genetic studies have identified FGF5 as a causal factor in blood pressure regulation and cardiovascular disease risk, with a substantial proportion (30.5%-77.2%) of its effects on coronary artery disease and stroke mediated through blood pressure regulation 3. Large-scale proteomic studies have demonstrated associations between FGF5 levels and incident myocardial infarction, ischemic stroke, and heart failure 4. Additionally, FGF5 variants have been associated with eGFR decline in chr4 kidney disease progression 5. The protein appears to function through growth factor signaling pathways and may represent a promising therapeutic target for multiple conditions.

Sources cited
1
FGF5 functions as negative regulator of hair cycle, expressed in outer root sheath during late anagen, mediates anagen to catagen transition, and mutations cause trichomegaly in humans
PMID: 37957094
2
FGF5 appears as transient marker of epiblast-like stage during neural induction from human embryonic stem cells
PMID: 19252484
3
FGF5 shows causal effects on blood pressure regulation and cardiovascular disease with 30.5%-77.2% of CVD effects mediated through blood pressure
PMID: 41065563
4
FGF5 levels associated with incident myocardial infarction, ischemic stroke, and heart failure in large-scale proteomic studies
PMID: 39322770
5
FGF5 variants associated with eGFR decline in chronic kidney disease progression
PMID: 37261792
Disease Associationsβ“˜21
hypertensionOpen Targets
0.60Moderate
cancerOpen Targets
0.60Moderate
bone development diseaseOpen Targets
0.60Moderate
trichomegalyOpen Targets
0.59Moderate
atrial fibrillationOpen Targets
0.58Moderate
coronary artery diseaseOpen Targets
0.57Moderate
essential hypertensionOpen Targets
0.56Moderate
preeclampsiaOpen Targets
0.56Moderate
androgenetic alopeciaOpen Targets
0.55Moderate
strokeOpen Targets
0.53Moderate
kidney failureOpen Targets
0.52Moderate
hypertension, pregnancy-inducedOpen Targets
0.51Moderate
hair colorOpen Targets
0.51Moderate
alcohol drinkingOpen Targets
0.50Moderate
heart failureOpen Targets
0.49Moderate
chronic kidney diseaseOpen Targets
0.49Moderate
myocardial infarctionOpen Targets
0.49Moderate
hypertensive heart diseaseOpen Targets
0.49Moderate
cardiovascular diseaseOpen Targets
0.49Moderate
major depressive disorderOpen Targets
0.48Moderate
TrichomegalyUniProt
Pathogenic Variants3
NM_004464.4(FGF5):c.459+1delPathogenic
Trichomegaly
β˜†β˜†β˜†β˜†2014
NM_004464.4(FGF5):c.160_161del (p.Met54fs)Pathogenic
Trichomegaly
β˜†β˜†β˜†β˜†2014β†’ Residue 54
NM_004464.4(FGF5):c.520T>C (p.Tyr174His)Pathogenic
Trichomegaly
β˜†β˜†β˜†β˜†2014β†’ Residue 174
View on ClinVar β†—
Related Genes
FGF17Shared pathway100%EGFRProtein interaction100%TGFB1Protein interaction100%BDNFProtein interaction100%NTRK1Protein interaction100%FN1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
71%
Liver
68%
Lung
55%
Heart
52%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FGF5FGF17EGFRTGFB1BDNFNTRK1FN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P12034
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.42LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.63–1.42]
RankingsWhere FGF5 stands among ~20K protein-coding genes
  • #6,716of 20,598
    Most Researched70
  • #4,032of 5,498
    Most Pathogenic Variants3
  • #14,627of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedFGF5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling.
PMID: 19252484
Nat Biotechnol Β· 2009
1.00
2
FGF5.
PMID: 37957094
Differentiation Β· 2024
0.90
3
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
PMID: 38898508
Genome Med Β· 2024
0.80
4
Genome-Wide Association Study of CKD Progression.
PMID: 37261792
J Am Soc Nephrol Β· 2023
0.70
5
Blood pressure, plasma proteins, and cardiovascular diseases: a network Mendelian randomization and observational study.
PMID: 41065563
Eur Heart J Β· 2026
0.60