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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FGD5
FYVE, RhoGEF and PH domain containing 5
Chromosome 3 · 3p25.1
NCBI Gene: 152273Ensembl: ENSG00000154783.12HGNC: HGNC:19117UniProt: A0A2X0SFF2
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membraneprotein bindingcytoskeleton organizationregulation of cell shapecoronary artery diseasehypertensionatrial fibrillationessential hypertension
✦AI Summary

FGD5 (FYVE, RhoGEF and PH domain containing 5) is a guanine nucleotide exchange factor that activates CDC42, a Rho family GTPase, by catalyzing GDP-GTP exchange. This activation mediates VEGF-induced signaling in vascular endothelial cells, regulating proangiogenic processes including angiogenesis, cell migration, and proliferation through actin cytoskeleton reorganization. At the tissue level, FGD5 plays critical roles in epithelial-stromal crosstalk. In mammary glands, FGD5 expressed in basal cells inhibits ATF3 transcriptional activity, promoting CXCL14 secretion 1. This CXCL14/CXCR4/ERK signaling in endothelial cells activates hedgehog ligands, establishing a positive feedback loop supporting basal cell expansion and ductal morphogenesis 1. FGD5 also serves as a marker identifying functional hematopoietic stem cells in expansion cultures, linked with expression signatures of proliferating fetal HSCs 2. Clinically, FGD5 genetic variants (rs2342882, rs35850039) are significantly associated with increased risk of death or heart failure rehospitalization in multiethnic cohorts 3, suggesting involvement in cardiovascular homeostasis. The FGD5 locus shows multiple disease associations via genome-wide studies, though the precise mechanisms require further investigation. The related lncRNA FGD5-AS1 functions independently in cancer progression and myocardial injury, highlighting complex regulatory networks at this genomic locus.

Sources cited
1
FGD5 in basal cells inhibits ATF3, promoting CXCL14 secretion and establishing endothelial-epithelial crosstalk via CXCL14/CXCR4/ERK/hedgehog signaling in mammary glands
PMID: 38821057
2
FGD5 reporter mice identify hematopoietic stem cells in expansion cultures; expanded HSCs share molecular profile with proliferating fetal HSCs
PMID: 35971894
3
FGD5 genetic variants (rs2342882, rs35850039) are significantly associated with increased risk of death or heart failure rehospitalization in multiethnic genome-wide association study
PMID: 37725680
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.47Moderate
hypertensionOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.41Moderate
essential hypertensionOpen Targets
0.41Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
cardiovascular diseaseOpen Targets
0.35Weak
Increased blood pressureOpen Targets
0.34Weak
diabetes mellitusOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.33Weak
response to xenobiotic stimulusOpen Targets
0.27Weak
hemorrhoidOpen Targets
0.26Weak
large artery strokeOpen Targets
0.25Weak
acute myeloid leukemiaOpen Targets
0.23Weak
nephritisOpen Targets
0.23Weak
NephropathyOpen Targets
0.23Weak
heart diseaseOpen Targets
0.21Weak
myocardial infarctionOpen Targets
0.18Weak
non-small cell lung carcinomaOpen Targets
0.11Weak
ProptosisOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FGD3Shared pathway100%FGD4Shared pathway100%FGD2Shared pathway100%FGD1Shared pathway86%FGD6Shared pathway83%FMNL3Shared pathway44%
Tissue Expression6 tissues
Heart
100%
Lung
74%
Ovary
34%
Liver
13%
Brain
8%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
FGD5FGD3FGD4FGD2FGD1FGD6FMNL3
PROTEIN STRUCTURE
Preparing viewer…
PDB3MPX · 2.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.30Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.16–0.30]
RankingsWhere FGD5 stands among ~20K protein-coding genes
  • #11,339of 20,598
    Most Researched33
  • #1,147of 17,882
    Most Constrained (LOEUF)0.30 · top 10%
Genes detectedFGD5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expression and crucial role of long non-coding RNA FGD5-AS1 in human cancers.
PMID: 34786036
Am J Transl Res · 2021
1.00
2
lncRNA FGD5-AS1 is required for gastric cancer proliferation by inhibiting cell senescence and ROS production via stabilizing YBX1.
PMID: 38965605
J Exp Clin Cancer Res · 2024
0.90
3
The role of long non-coding RNA FGD5-AS1 in cancer.
PMID: 35475392
Bioengineered · 2022
0.80
4
Identification and characterization of in vitro expanded hematopoietic stem cells.
PMID: 35971894
EMBO Rep · 2022
0.70
5
Common Variants on
PMID: 37725680
Circ Heart Fail · 2023
0.60