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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FGD6
FYVE, RhoGEF and PH domain containing 6
Chromosome 12 · 12q22
NCBI Gene: 55785Ensembl: ENSG00000180263.15HGNC: HGNC:21740UniProt: Q6ZV73
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsmall GTPase bindingguanyl-nucleotide exchange factor activityrufflecoronary artery diseaseendometriosismedical procedurecomplication
✦AI Summary

FGD6 (FYVE, RhoGEF and PH domain containing 6) is a guanine nucleotide exchange factor that likely activates CDC42 by facilitating GDP-GTP exchange, thereby regulating actin cytoskeleton organization and cell morphology. FGD6 localizes primarily to the nucleus and participates in trans-Golgi network dynamics 1. In hepatic stem cells, FGD6 inhibition promotes differentiation toward a hepatocyte phenotype, as FGD6 knockdown increases albumin expression while decreasing alpha-fetoprotein 2. In pancreatic ductal adenocarcinoma, FGD6 is upregulated under low amino acid conditions through a YY1-dependent mechanism and promotes macropinocytosis and tumor growth by enhancing growth factor receptor membrane localization, particularly TGF-beta receptors 1. Genetically, FGD6 has been identified as a conserved longevity gene in mice and Caenorhabditis elegans 3, and multivariate genomic analysis identified FGD6 as a novel locus influencing healthspan, lifespan, and longevity 4. Notably, a missense variant (p.Lys329Arg) in FGD6 significantly increases polypoidal choroidal vasculopathy risk (OR=2.12) by promoting abnormal retinal vessel development, particularly in response to oxidized phospholipids 5. FGD6 expression is dysregulated in gastric cancer and pancreatic adenocarcinoma, where high expression correlates with poor prognosis 16, suggesting potential therapeutic targeting opportunities.

Sources cited
1
FGD6 inhibition in hepatic stem cells promotes differentiation to hepatocytes by increasing albumin and decreasing AFP expression
PMID: 28494545
2
FGD6 regulates macropinocytosis in PDAC through YY1-dependent expression and TGF-beta receptor membrane localization; high FGD6 correlates with poor prognosis
PMID: 35082383
3
FGD6 is validated as a conserved longevity gene in mice and C. elegans
PMID: 36173858
4
FGD6 is identified as a novel locus influencing healthspan, lifespan, and longevity through multivariate genomic analysis
PMID: 32678081
5
FGD6 p.Lys329Arg variant significantly increases polypoidal choroidal vasculopathy risk (OR=2.12) by promoting abnormal vessel development
PMID: 27089177
6
FGD6 is identified as part of a cuproptosis-related prognostic signature in gastric cancer
PMID: 37243753
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.42Moderate
endometriosisOpen Targets
0.36Weak
complicationOpen Targets
0.31Weak
medical procedureOpen Targets
0.31Weak
trauma complicationOpen Targets
0.31Weak
endometriosis of pelvic peritoneumOpen Targets
0.27Weak
brain aneurysmOpen Targets
0.27Weak
heart diseaseOpen Targets
0.26Weak
esophageal ulcerOpen Targets
0.24Weak
myocardial infarctionOpen Targets
0.22Weak
coronary atherosclerosisOpen Targets
0.22Weak
angina pectorisOpen Targets
0.22Weak
female infertilityOpen Targets
0.12Weak
Ovarian EndometriosisOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.07Suggestive
shoulder fractureOpen Targets
0.06Suggestive
HypercholesterolemiaOpen Targets
0.05Suggestive
clavicle fractureOpen Targets
0.04Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
pachyonychia congenitaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FGD3Shared pathway83%FGD4Shared pathway83%FGD5Shared pathway83%FGD2Shared pathway83%ASNSProtein interaction72%SLC7A5Protein interaction72%
Tissue Expression6 tissues
Heart
100%
Ovary
65%
Lung
60%
Bone Marrow
44%
Brain
33%
Liver
25%
Gene Interaction Network
Click a node to explore
FGD6FGD3FGD4FGD5FGD2ASNSSLC7A5
PROTEIN STRUCTURE
Preparing viewer…
PDB9JB3 · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.48–0.69]
RankingsWhere FGD6 stands among ~20K protein-coding genes
  • #11,151of 20,598
    Most Researched34
  • #5,222of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedFGD6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sex- and age-dependent genetics of longevity in a heterogeneous mouse population.
PMID: 36173858
Science · 2022
1.00
2
[Regulatory effect of faciogenital dysplasia 6 gene on hepatic stem cell differentiation].
PMID: 28494545
Zhonghua Gan Zang Bing Za Zhi · 2017
0.90
3
Genetic Association of Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy.
PMID: 32195675
Asia Pac J Ophthalmol (Phila) · 2020
0.80
4
A missense variant in FGD6 confers increased risk of polypoidal choroidal vasculopathy.
PMID: 27089177
Nat Genet · 2016
0.70
5
Multivariate genomic scan implicates novel loci and haem metabolism in human ageing.
PMID: 32678081
Nat Commun · 2020
0.60