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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WDR36
WD repeat domain 36
Chromosome 5 · 5q22.1
NCBI Gene: 134430Ensembl: ENSG00000134987.14HGNC: HGNC:30696UniProt: Q8NI36
150PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
small-subunit processomeribosomal small subunit biogenesisRNA bindingrRNA processingopen-angle glaucomaasthmaeosinophilic esophagitisWheezing
✦AI Summary

WDR36 (WD repeat domain 36) is an essential protein that functions primarily in ribosomal biogenesis as a component of the small subunit (SSU) processome 1. As a functional homolog of yeast Utp21, WDR36 localizes to the nucleolus where it regulates the nucleolar processing and maturation of 18S rRNA, a critical step in ribosome assembly 2. The protein contains 14 WD40 repeats that form β-propeller structures and interacts with glycolytic enzymes like lactate dehydrogenase A to regulate glucose metabolism during early embryonic development 3. Beyond its ribosomal function, WDR36 safeguards self-renewal and pluripotency in extended pluripotent stem cells through interactions with the p53 stress-response pathway 41. WDR36 depletion triggers p53-mediated apoptosis and impairs early embryonic development, with homozygous knockout causing preimplantation embryonic lethality in mice 2. Clinically, WDR36 variants associate with primary open-angle glaucoma (POAG), a leading cause of blindness 5. Rare WDR36 mutations increase glaucoma susceptibility, particularly through genetic interactions with p53 polymorphisms 6. However, meta-analysis of common WDR36 polymorphisms showed no significant association with POAG, HTG, or NTG 7, suggesting rare variants rather than common polymorphisms drive glaucoma risk.

Sources cited
1
WDR36 functions in nucleolar 18S rRNA processing and interacts with p53 stress-response pathway; is functional homolog of yeast Utp21
PMID: 18469340
2
WDR36 deletion causes preimplantation embryonic lethality; depletion causes delays in 18S rRNA maturation and p53 upregulation
PMID: 21051332
3
WDR36 safeguards self-renewal and pluripotency of human extended pluripotent stem cells through p53-dependent mechanisms
PMID: 35937980
4
WDR36 regulates trophectoderm differentiation via glycolytic metabolism; interacts with lactate dehydrogenase A (LDHA)
PMID: 39656902
5
Rare WDR36 variants and P53 p.R72P polymorphism increase POAG susceptibility; genetic interaction between WDR36 and P53 variants demonstrated
PMID: 21931130
6
Meta-analysis of common WDR36 polymorphisms found no significant association with POAG, HTG, or NTG
PMID: 28658128
7
WDR36 identified as causative POAG gene; expressed in ocular tissues including retinal ganglion cells and trabecular meshwork
PMID: 26497787
Disease Associationsⓘ21
open-angle glaucomaOpen Targets
0.71Strong
asthmaOpen Targets
0.53Moderate
eosinophilic esophagitisOpen Targets
0.43Moderate
WheezingOpen Targets
0.42Moderate
Nasal Cavity PolypOpen Targets
0.41Moderate
allergic rhinitisOpen Targets
0.40Moderate
allergic diseaseOpen Targets
0.38Weak
chronic rhinosinusitisOpen Targets
0.38Weak
allergic asthmaOpen Targets
0.35Weak
Nasal polyposisOpen Targets
0.34Weak
Crohn's diseaseOpen Targets
0.33Weak
rhinitisOpen Targets
0.33Weak
ovarian neoplasmOpen Targets
0.30Weak
seasonal allergic rhinitisOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.26Weak
childhood onset asthmaOpen Targets
0.19Weak
allergic conjunctivitisOpen Targets
0.17Weak
infectionOpen Targets
0.17Weak
respiratory tract infectious disorderOpen Targets
0.17Weak
Eczematoid dermatitisOpen Targets
0.16Weak
Glaucoma 1, open angle, GUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NOB1Shared pathway100%MCCProtein interaction100%DHX34Protein interaction100%BMS1Protein interaction100%MYBBP1AProtein interaction100%PDCD11Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
81%
Ovary
69%
Heart
66%
Lung
52%
Brain
43%
Gene Interaction Network
Click a node to explore
WDR36NOB1MCCDHX34BMS1MYBBP1APDCD11
PROTEIN STRUCTURE
Preparing viewer…
PDB7MQA · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.45–0.71]
RankingsWhere WDR36 stands among ~20K protein-coding genes
  • #3,027of 20,598
    Most Researched150 · top quartile
  • #5,393of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedWDR36
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
WDR36 Safeguards Self-Renewal and Pluripotency of Human Extended Pluripotent Stem Cells.
PMID: 35937980
Front Genet · 2022
1.00
2
WDR36 Regulates Trophectoderm Differentiation During Human Preimplantation Embryonic Development Through Glycolytic Metabolism.
PMID: 39656902
Adv Sci (Weinh) · 2025
0.90
3
WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.
PMID: 21931130
Invest Ophthalmol Vis Sci · 2011
0.80
4
Association of WDR36 polymorphisms with primary open angle glaucoma: A systematic review and meta-analysis.
PMID: 28658128
Medicine (Baltimore) · 2017
0.70
5
Clinicopathologic features, tumor immune microenvironment and genomic landscape of Epstein-Barr virus-associated intrahepatic cholangiocarcinoma.
PMID: 33212090
J Hepatol · 2021
0.60