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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WDR18
WD repeat domain 18
Chromosome 19 · 19p13.3
NCBI Gene: 57418Ensembl: ENSG00000065268.12HGNC: HGNC:17956UniProt: Q9BV38
104PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmprotein bindingrRNA processingneurodegenerative diseaseovarian neoplasmmultiple sclerosisdementia
✦AI Summary

WDR18 (WD repeat domain 18) is a core structural component of the rixosome complex, a multi-subunit protein assembly critical for ribosome biogenesis. WDR18 functions as part of the PELP1-TEX10-WDR18 complex within the larger human rixosome, which includes LAS1L and NOL9 1. The complex is recruited to pre-60S ribosomal subunits where it coordinates nucleolar maturation of 28S rRNA and subsequent nucleoplasmic transit of the pre-60S ribosomal subunit 2. Structurally, WDR18 serves as a critical scaffold interface, with two contact regions binding TEX10 and a C-terminal helix interacting with the catalytic LAS1L subunit 1. The rixosome's activity is regulated by SUMO-dependent modification of PELP1, where SENP3-mediated desumoylation controls dynamic association with the remodeling AAA-ATPase MDN1 3. Beyond ribosome biogenesis, WDR18 is implicated in disease pathogenesis. Genetic studies show WDR18 expression in CD4+ T cells inversely correlates with risk for Crohn's disease and asthma, suggesting potential therapeutic value as a drug target 4. Additionally, de novo WDR18 variants have been identified in individuals with Cornelia de Lange syndrome-like phenotypes 5, and upregulated WDR18 promotes hepatocellular carcinoma development through Wnt/β-catenin pathway activation 6.

Sources cited
1
WDR18 is a core component of human rixosome complex; its C-terminal helix interacts with LAS1L and contains TEX10 contact regions essential for complex assembly
PMID: 40195365
2
WDR18 is part of PELP1-TEX10-WDR18 complex involved in 28S rRNA maturation and nucleolar release of large ribosomal subunit; SUMO conjugation/deconjugation controls complex localization
PMID: 21326211
3
SUMO modification of PELP1 controls WDR18 complex association with MDN1 AAA-ATPase for pre-60S remodeling; SENP3-mediated desumoylation is required for MDN1 release
PMID: 27814492
4
Lower WDR18 expression in CD4+ T cells predicts decreased risk of Crohn's disease and asthma; WDR18 inhibition is proposed as candidate therapeutic strategy
PMID: 39719505
5
De novo WDR18 variants identified in individuals with Cornelia de Lange syndrome-like phenotypes on whole genome sequencing
PMID: 40677927
6
WDR18 is upregulated in hepatocellular carcinoma tissues; acts as oncogene by activating Wnt/β-catenin signaling pathway
PMID: 31691159
7
Cryo-EM structures reveal PELP1-WDR18-TEX10 complex architecture and interaction with catalytic LAS1L-NOL9 module in rixosome
PMID: 40195365
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
ovarian neoplasmOpen Targets
0.14Weak
multiple sclerosisOpen Targets
0.04Suggestive
dementiaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
asthmaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.01Suggestive
meningiomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
chronic gastritisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SENP3Protein interaction100%CDT1Protein interaction100%HEATR1Protein interaction100%UTP4Protein interaction100%WDR75Protein interaction100%WDR46Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
54%
Ovary
48%
Lung
44%
Bone Marrow
32%
Heart
25%
Gene Interaction Network
Click a node to explore
WDR18SENP3CDT1HEATR1UTP4WDR75WDR46
PROTEIN STRUCTURE
Preparing viewer…
PDB8FL3 · 2.53 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.69–1.22]
RankingsWhere WDR18 stands among ~20K protein-coding genes
  • #4,628of 20,598
    Most Researched104 · top quartile
  • #12,861of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedWDR18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cryo-EM reveals the architecture of the PELP1-WDR18 molecular scaffold.
PMID: 36351913
Nat Commun · 2022
1.00
2
An atlas of the shared genetic architecture between atopic and gastrointestinal diseases.
PMID: 39719505
Commun Biol · 2024
0.90
3
Molecular insights into the overall architecture of human rixosome.
PMID: 40195365
Nat Commun · 2025
0.80
4
SUMO routes ribosome maturation.
PMID: 22064470
Nucleus · 2011
0.70
5
The AAA ATPase MDN1 Acts as a SUMO-Targeted Regulator in Mammalian Pre-ribosome Remodeling.
PMID: 27814492
Mol Cell · 2016
0.60