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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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WDFY2
WD repeat and FYVE domain containing 2
Chromosome 13 · 13q14.3
NCBI Gene: 115825Ensembl: ENSG00000139668.10HGNC: HGNC:20482UniProt: Q96P53
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of protein phosphorylationpositive regulation of fat cell differentiationearly endosomeaortic valve stenosisglycogen storage disease VIcancerHyperlipoproteinemia type 1
✦AI Summary

WDFY2 is a multifunctional endosomal adapter protein containing WD40 and FYVE domains that functions across multiple cellular processes. Structurally, the FYVE domain binds phosphatidylinositol 3-phosphate with high specificity 1, enabling WDFY2 localization to early endosomes and endosomal tubules 2. In metabolic signaling, WDFY2 facilitates hepatic insulin sensitivity by controlling endosomal localization of the insulin receptor and recruiting IRS1/2 to activate AKT2 signaling 3. WDFY2 also regulates adipocyte differentiation through AKT1-mediated FOXO1 inactivation 4. Beyond metabolism, WDFY2 restrains cancer cell invasion by controlling VAMP3-dependent MT1-MMP recycling; its frequent loss in metastatic cancers suggests tumor suppressor function 5. Importantly, WDFY2 promotes DNA damage repair by bridging MRE11 and NBS1 to facilitate MRN complex formation at double-strand breaks following ATM-CHK2-mediated phosphorylation 6. The CDKN2D-WDFY2 fusion occurs in 20% of high-grade serous ovarian carcinomas, altering PI3K/AKT signaling 7. Pan-cancer analysis reveals WDFY2 downregulation in most cancers, with expression correlating with immune infiltration patterns 8. These findings establish WDFY2 as a multivalent platform protein linking endosomal trafficking, insulin signaling, DNA repair, and cancer suppression.

Sources cited
1
WDFY2 phosphorylated by ATM-CHK2 promotes MRN complex formation at DSBs and facilitates homologous recombination repair
PMID: 41196680
2
WDFY2 potentiates hepatic insulin sensitivity by controlling endosomal localization of INSR and IRS1/2, enabling AKT2 signaling
PMID: 32641353
3
WDFY2 controls VAMP3-dependent MT1-MMP recycling and restrains cancer cell invasion; frequently lost in metastatic cancers
PMID: 31253801
4
CDKN2D-WDFY2 fusion occurs in 20% of high-grade serous ovarian carcinoma and alters PI3K/AKT pathway
PMID: 24675677
5
Pan-cancer analysis shows WDFY2 downregulated in most cancers; expression correlates with immune and fibroblast infiltration
PMID: 36971139
6
WDFY2 localizes to early endosomes near plasma membrane and is required for transferrin endocytosis
PMID: 16873553
7
FYVE domain of WDFY2 binds phosphoinositol 3-phosphate with high specificity and is evolutionarily conserved
PMID: 17233583
8
p63 transcriptionally activates WDFY2; WDFY2 is frequently deleted in tumors and implicated in limb development
PMID: 31789342
Disease Associationsⓘ20
aortic valve stenosisOpen Targets
0.28Weak
glycogen storage disease VIOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Hyperlipoproteinemia type 1Open Targets
0.06Suggestive
CIDEC-related familial partial lipodystrophyOpen Targets
0.05Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.05Suggestive
PLIN1-related familial partial lipodystrophyOpen Targets
0.05Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.05Suggestive
coronary artery disease, autosomal dominant 2Open Targets
0.05Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.05Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.05Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.05Suggestive
congenital generalized lipodystrophy type 3Open Targets
0.05Suggestive
Generalized congenital lipodystrophy with myopathyOpen Targets
0.05Suggestive
AKT2-related familial partial lipodystrophyOpen Targets
0.05Suggestive
Familial partial lipodystrophy due to AKT2 mutationsOpen Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
microcephalic primordial dwarfism-insulin resistance syndromeOpen Targets
0.05Suggestive
glycogen storage disease IXa1Open Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ADIRFShared pathway50%AAMDCShared pathway50%MEDAGShared pathway50%ASXL2Shared pathway25%LMO3Shared pathway25%ITLN1Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
59%
Lung
42%
Liver
42%
Brain
29%
Heart
24%
Gene Interaction Network
Click a node to explore
WDFY2ADIRFAAMDCMEDAGASXL2LMO3ITLN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96P53
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.42–0.78]
RankingsWhere WDFY2 stands among ~20K protein-coding genes
  • #13,570of 20,598
    Most Researched23
  • #6,352of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedWDFY2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
WDFY2 promotes MRN complex formation required for homologous recombination-mediated DNA repair.
PMID: 41196680
Cell Rep · 2025
1.00
2
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development.
PMID: 31789342
Biosci Rep · 2019
0.90
3
WDFY2 Potentiates Hepatic Insulin Sensitivity and Controls Endosomal Localization of the Insulin Receptor and IRS1/2.
PMID: 32641353
Diabetes · 2020
0.80
4
A pan-cancer analysis of the role of
PMID: 36971139
Biotechnol Genet Eng Rev · 2024
0.70
5
Evolutionarily conserved structural and functional roles of the FYVE domain.
PMID: 17233583
Biochem Soc Symp · 2007
0.60