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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDFY3
WD repeat and FYVE domain containing 3
Chromosome 4 Β· 4q21.23
NCBI Gene: 23001Ensembl: ENSG00000163625.17HGNC: HGNC:20751UniProt: Q8IZQ1
65PubMed Papers
21Diseases
0Drugs
84Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
Atg12-Atg5-Atg16 complexprotein binding1-phosphatidylinositol bindingcytoplasmAutosomal dominant microcephalygenetic disorderNeurodevelopmental disorderNeurodevelopmental delay
✦AI Summary

WDFY3 is an autophagy scaffolding protein essential for selective macroautophagy and brain development. It functions as an adapter linking ubiquitinated proteins destined for degradation to core autophagic machinery, including ATG5-ATG12-ATG16L and LC3, facilitating the formation and clearance of cytoplasmic ubiquitin-containing inclusions 1. WDFY3 regulates brain size through Wnt pathway control via DVL3 aggregate removal and is critical for axonal tract formation and neural cell guidance responses 2. In macrophages, WDFY3 mediates efferocytosis (clearance of apoptotic cells) by facilitating actin disassembly and lysosomal acidification through LC3 lipidation, thereby maintaining immune homeostasis and suppressing autoimmune responses 34. Clinically, heterozygous WDFY3 loss-of-function variants cause neurodevelopmental disorders with macrocephaly through Wnt pathway downregulation, while PH-domain variants paradoxically cause microcephaly via pathway upregulation 5. De novo mutations in WDFY3 are among the most prevalent in autism spectrum disorder cohorts, with recurrent mutations identified in Chinese ASD populations 67. These findings establish WDFY3 as a critical regulator of both neuronal development and immune homeostasis, with variants causing neurodevelopmental delay and intellectual disability.

Sources cited
1
WDFY3 links ubiquitinated proteins to ATG5-ATG12-ATG16L and LC3 for autophagosomal degradation
PMID: 20417604
2
WDFY3 regulates brain size through DVL3 aggregate removal and Wnt signaling control
PMID: 27008544
3
WDFY3 is essential for macrophage efferocytosis through actin disassembly and LC3 lipidation
PMID: 36566259
4
WDFY3 in macrophages mitigates autoimmunity by enhancing efferocytosis and suppressing T cell activation
PMID: 41027899
5
Heterozygous WDFY3 variants cause neurodevelopmental delay with macrocephaly; PH-domain variants cause microcephaly
PMID: 31327001
6
WDFY3 is among the most prevalent genes for de novo mutations in autism spectrum disorder
PMID: 27824329
7
WDFY3 variants are associated with autism/developmental delay and macrocephaly
PMID: 30564305
Disease Associationsβ“˜21
Autosomal dominant microcephalyOpen Targets
0.69Moderate
genetic disorderOpen Targets
0.53Moderate
Neurodevelopmental disorderOpen Targets
0.50Moderate
Neurodevelopmental delayOpen Targets
0.49Moderate
complex neurodevelopmental disorderOpen Targets
0.46Moderate
syndromic intellectual disabilityOpen Targets
0.44Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
liver diseaseOpen Targets
0.33Weak
autism spectrum disorderOpen Targets
0.32Weak
prostate cancerOpen Targets
0.30Weak
Familial prostate cancerOpen Targets
0.30Weak
vascular diseaseOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.27Weak
MacrocephalyOpen Targets
0.27Weak
2q23.1 microdeletion syndromeOpen Targets
0.27Weak
esophageal atresia/tracheoesophageal fistulaOpen Targets
0.26Weak
macrocephaly-autism syndromeOpen Targets
0.26Weak
Tracheoesophageal fistulaOpen Targets
0.26Weak
benign digestive system neoplasmOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.20Weak
Microcephaly 18, primary, autosomal dominantUniProt
Pathogenic Variants84
NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 720
NM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 1128
NM_014991.6(WDFY3):c.7909C>T (p.Arg2637Trp)Pathogenic
Microcephaly 18, primary, autosomal dominant|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 2637
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter)Pathogenic
Microcephaly 18, primary, autosomal dominant|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 3166
NM_014991.6(WDFY3):c.3547C>T (p.Arg1183Ter)Pathogenic
Neurodevelopmental disorder|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1183
NM_014991.6(WDFY3):c.749A>G (p.Asn250Ser)Likely pathogenic
Neurodevelopmental delay|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 250
NM_014991.6(WDFY3):c.8017C>T (p.Arg2673Ter)Likely pathogenic
not provided|Microcephaly 18, primary, autosomal dominant
β˜…β˜…β˜†β˜†2022β†’ Residue 2673
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs)Pathogenic
not specified|Neurodevelopmental delay
β˜…β˜…β˜†β˜†2022β†’ Residue 2957
NM_014991.6(WDFY3):c.7471C>T (p.Arg2491Ter)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 2491
NM_014991.6(WDFY3):c.6335A>T (p.Gln2112Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 2112
NM_014991.6(WDFY3):c.5943del (p.Lys1981fs)Likely pathogenic
Autosomal dominant WDFY3-related disorders
β˜…β˜†β˜†β˜†2025β†’ Residue 1981
NM_014991.6(WDFY3):c.5952del (p.Pro1984_Leu1985insTer)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1984
NM_014991.6(WDFY3):c.5090dup (p.Asn1697fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1697
NM_014991.6(WDFY3):c.8090_8091del (p.Arg2697fs)Likely pathogenic
Autosomal dominant WDFY3-related disorders
β˜…β˜†β˜†β˜†2025β†’ Residue 2697
NM_014991.6(WDFY3):c.7731del (p.Asp2578fs)Likely pathogenic
Autosomal dominant WDFY3-related disorders
β˜…β˜†β˜†β˜†2025β†’ Residue 2578
NM_014991.6(WDFY3):c.7282C>T (p.Arg2428Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 2428
NM_014991.6(WDFY3):c.3442C>T (p.Arg1148Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1148
NM_014991.6(WDFY3):c.9007_9014del (p.His3003fs)Pathogenic
Autosomal dominant WDFY3-related disorders
β˜…β˜†β˜†β˜†2025β†’ Residue 3003
NM_014991.6(WDFY3):c.4175-2A>GPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_014991.6(WDFY3):c.5929_5932del (p.Thr1977fs)Likely pathogenic
Microcephaly 18, primary, autosomal dominant
β˜…β˜†β˜†β˜†2025β†’ Residue 1977
View on ClinVar β†—
Related Genes
ATG16L1Protein interaction99%GABARAPL1Protein interaction95%TRAF6Protein interaction92%MAP1LC3BProtein interaction87%SQSTM1Protein interaction84%ATG12Protein interaction84%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
90%
Ovary
55%
Lung
49%
Heart
48%
Liver
27%
Gene Interaction Network
Click a node to explore
WDFY3ATG16L1GABARAPL1TRAF6MAP1LC3BSQSTM1ATG12
PROTEIN STRUCTURE
Preparing viewer…
PDB3WIM Β· 2.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.20Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.16 [0.13–0.20]
RankingsWhere WDFY3 stands among ~20K protein-coding genes
  • #7,223of 20,598
    Most Researched65
  • #893of 5,498
    Most Pathogenic Variants84 Β· top quartile
  • #452of 17,882
    Most Constrained (LOEUF)0.20 Β· top 5%
Genes detectedWDFY3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De novo genic mutations among a Chinese autism spectrum disorder cohort.
PMID: 27824329
Nat Commun Β· 2016
1.00
2
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
PMID: 30564305
Mol Autism Β· 2018
0.90
3
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
PMID: 31327001
Brain Β· 2019
0.80
4
A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis.
PMID: 36566259
Nat Commun Β· 2022
0.70
5
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
PMID: 34130600
Autophagy Β· 2022
0.60