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GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WDR75
WD repeat domain 75
Chromosome 2 · 2q32.2
NCBI Gene: 84128Ensembl: ENSG00000115368.11HGNC: HGNC:25725UniProt: Q8IWA0
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingpositive regulation of transcription by RNA polymerase Ipositive regulation of rRNA processingneurodegenerative diseasebronchial diseaseosteoarthritis, hipopen-angle glaucoma
✦AI Summary

WDR75 (WD repeat domain 75) is a nucleolar protein essential for ribosome biogenesis, specifically functioning as a component of the small subunit (SSU) processome 1. As a ribosome biogenesis factor, WDR75 binds to conserved motifs in the external transcribed spacer region of rRNA to facilitate SSU formation 2. Mechanistically, WDR75 is required for optimal pre-rRNA transcription by supporting physiological levels of RPA194, a key subunit of RNA polymerase I 1. Under nucleolar stress, WDR75 relocalizes to nucleolar caps alongside other canonical nucleolar proteins 1. WDR75 depletion impairs ribosome biogenesis and activates the RPL5/RPL11-dependent p53 stabilization checkpoint, leading to cellular senescence and impaired proliferation 1. Disease relevance includes associations with schizophrenia with tardive dyskinesia through aberrant DNA methylation 3, pancreatic cancer cachexia as a hub gene showing altered expression patterns 4, hepatocellular carcinoma where WDR75 is linked to poor prognosis and immunosuppressive tumor microenvironments 5, and sepsis-induced myopathy as a downregulated hub gene 6. Evolutionary analysis reveals WDR75 undergoes strong purifying selection across mammals, indicating its essential role is under constraint 2.

Sources cited
1
WDR75 is a nucleolar protein required for pre-rRNA transcription and RPA194 maintenance; its depletion activates p53 stabilization and causes cellular senescence
PMID: 34611297
2
WDR75 binds conserved motifs in rRNA to help form the SSU processome and undergoes strong purifying selection in mammals
PMID: 39932919
3
WDR75 methylation is altered in schizophrenia patients with tardive dyskinesia
PMID: 37414911
4
WDR75 is identified as a hub gene with altered expression in pancreatic cancer cachexia
PMID: 40950454
5
WDR75 is an HBx-related gene associated with poor prognosis in hepatocellular carcinoma and immunosuppressive tumor microenvironment
PMID: 40577282
6
WDR75 is a downregulated hub gene in sepsis-induced myopathy associated with skeletal muscle dysfunction
PMID: 39438952
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
bronchial diseaseOpen Targets
0.26Weak
osteoarthritis, hipOpen Targets
0.24Weak
open-angle glaucomaOpen Targets
0.23Weak
lysosomal storage diseaseOpen Targets
0.20Weak
hemorrhoidOpen Targets
0.17Weak
glaucomaOpen Targets
0.13Weak
Myasthenia gravisOpen Targets
0.08Suggestive
medical procedureOpen Targets
0.04Suggestive
glomerulonephritisOpen Targets
0.03Suggestive
head and neck malignant neoplasiaOpen Targets
0.03Suggestive
benign digestive system neoplasmOpen Targets
0.03Suggestive
infectionOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
thanatophoric dysplasiaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
fibrosarcomaOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MCCProtein interaction100%NOP14Protein interaction100%PDCD11Protein interaction100%RSL1D1Protein interaction100%AATFProtein interaction100%WDR18Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
97%
Liver
56%
Heart
51%
Lung
47%
Brain
31%
Gene Interaction Network
Click a node to explore
WDR75MCCNOP14PDCD11RSL1D1AATFWDR18
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.56Moderately Constrained
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.43 [0.33–0.56]
RankingsWhere WDR75 stands among ~20K protein-coding genes
  • #5,586of 20,598
    Most Researched86
  • #3,595of 17,882
    Most Constrained (LOEUF)0.56 · top quartile
Genes detectedWDR75
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Genome-wide DNA methylation analysis in schizophrenia with tardive dyskinesia: a preliminary study.
PMID: 37414911
Genes Genomics · 2023
1.00
2
RNA-interference screen for p53 regulators unveils a role of WDR75 in ribosome biogenesis.
PMID: 34611297
Cell Death Differ · 2022
0.88
3
Transcriptome and microRNAome profiling of human skeletal muscle in pancreatic cancer cachexia.
PMID: 40950454
medRxiv · 2025
0.75
4
Hepatitis B virus X protein (HBx)-mediated immune modulation and prognostic model development in hepatocellular carcinoma.
PMID: 40577282
PLoS One · 2025
0.63
5
Screening of Duck Tembusu Virus NS3 Interacting Host Proteins and Identification of Its Specific Interplay Domains.
PMID: 31408972
Viruses · 2019
0.50