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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WDR41
WD repeat domain 41
Chromosome 5 · 5q13.3-q14.1
NCBI Gene: 55255Ensembl: ENSG00000164253.15HGNC: HGNC:25601UniProt: A0A0S2Z5E0
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomal membraneguanyl-nucleotide exchange factor complexprotein bindingregulation of autophagydiabetes mellitusthyroid diseasecorneal ulcerhypothyroidism
✦AI Summary

WDR41 (WD repeat domain 41) is a non-catalytic scaffolding component of the C9orf72-SMCR8-WDR41 complex, a multiprotein assembly with dual roles in autophagy regulation and small GTPase signaling 1. Structurally, WDR41 binds to the DENN domain of SMCR8 via its C-terminal helix without directly contacting C9orf72, enabling complex assembly and function 2. The complex functions as both a GTPase-activating protein (GAP) for RAB8A and RAB11A to promote autophagosome maturation 3, and as a negative regulator of autophagy initiation by inhibiting the ULK1/ATG1 kinase complex 1. WDR41 is essential for recruiting the C9orf72-SMCR8 complex to lysosomes in response to amino acid starvation, supporting mTORC1 signaling independently of autophagy induction 4. The complex also mediates lysosomal responses through interaction with the PQLC2 cationic amino acid transporter 5. Beyond autophagy, WDR41 exhibits tumor-suppressive functions in triple-negative breast cancer, where aberrant methylation reduces expression and promotes tumorigenesis through AKT/GSK-3β/β-catenin pathway activation 6. Notably, C9orf72 mutations causing amyotrophic lateral sclerosis and frontotemporal dementia involve dysregulation of WDR41-containing complex functions, suggesting WDR41's critical role in neurodegeneration pathogenesis 7.

Sources cited
1
WDR41 is a binding partner of C9orf72/SMCR8 and the complex regulates autophagy-lysosome pathway and associates with FIP200/ULK1 complex
PMID: 27193190
2
Cryo-EM structure reveals WDR41 binds SMCR8 DENN domain and the complex functions as GAP for Rab8a and Rab11a
PMID: 32303654
3
C9orf72-SMCR8-WDR41 complex functions as a GAP for small GTPases with specific activity for RAB8A and RAB11A
PMID: 32521185
4
WDR41 is essential for C9orf72-SMCR8 complex recruitment to lysosomes in response to amino acid starvation and supports mTORC1 signaling
PMID: 29995611
5
WDR41 mediates interaction between PQLC2 amino acid transporter and the C9orf72-SMCR8 complex for lysosomal sensing
PMID: 33597295
6
WDR41 is downregulated by methylation in triple-negative breast cancer and promotes tumorigenesis through AKT/GSK-3β/β-catenin pathway
PMID: 32394588
7
WDR41 is identified as binding partner of C9ORF72 and component of complex with roles in vesicle trafficking, lysosome homeostasis, and ALS/FTD pathogenesis
PMID: 33259633
Disease Associationsⓘ20
diabetes mellitusOpen Targets
0.30Weak
thyroid diseaseOpen Targets
0.30Weak
corneal ulcerOpen Targets
0.29Weak
hypothyroidismOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.27Weak
Cerebral degenerationOpen Targets
0.26Weak
Hashimoto's thyroiditisOpen Targets
0.24Weak
breast cancerOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.05Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessiveOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
immunodeficiency 112Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
LAMTOR4Protein interaction100%RAB39BProtein interaction97%RAB8AProtein interaction96%RIC1Protein interaction90%ARF1Protein interaction86%ATG101Protein interaction79%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
94%
Brain
88%
Lung
68%
Ovary
51%
Liver
49%
Gene Interaction Network
Click a node to explore
WDR41LAMTOR4RAB39BRAB8ARIC1ARF1ATG101
PROTEIN STRUCTURE
Preparing viewer…
PDB8W3V · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.64–1.04]
RankingsWhere WDR41 stands among ~20K protein-coding genes
  • #8,268of 20,598
    Most Researched55
  • #10,431of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedWDR41
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Aberrant methylation of WD-repeat protein 41 contributes to tumour progression in triple-negative breast cancer.
PMID: 32394588
J Cell Mol Med · 2020
1.00
2
C9orf72 ALS-FTD: recent evidence for dysregulation of the autophagy-lysosome pathway at multiple levels.
PMID: 33632058
Autophagy · 2021
0.90
3
Cellular and physiological functions of C9ORF72 and implications for ALS/FTD.
PMID: 33259633
J Neurochem · 2021
0.80
4
Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a.
PMID: 32303654
Proc Natl Acad Sci U S A · 2020
0.70
5
Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids.
PMID: 33597295
Proc Natl Acad Sci U S A · 2021
0.60