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GeneE
1 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.
WDR53
WD repeat domain 53
Chromosome 3 Β· 3q29
NCBI Gene: 348793Ensembl: ENSG00000185798.8HGNC: HGNC:28786UniProt: C9JBE7
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
liver cancerintrahepatic bile duct cancerskin cancerskin neoplasm
✦AI Summary

Based on limited published evidence, WDR53 function remains largely uncharacterized in primary databases. WDR53 was identified as a component of a seventeen-gene prognostic signature for osteosarcoma, contributing to predictive capacity for clinical outcomes in this primary malignant bone tumor 1. The gene's specific molecular function and biological role require further investigation.

Sources cited
1
WDR53 was included in a validated seventeen-gene signature with prognostic capacity for predicting osteosarcoma patient outcomes and survival
PMID: 35075228
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
intrahepatic bile duct cancerOpen Targets
0.25Weak
liver cancerOpen Targets
0.25Weak
skin cancerOpen Targets
0.11Weak
skin neoplasmOpen Targets
0.08Suggestive
Rh deficiency syndromeOpen Targets
0.06Suggestive
asthmaOpen Targets
0.05Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
hemolytic anemia due to erythrocyte adenosine deaminase overproductionOpen Targets
0.05Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.05Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.04Suggestive
diabetes mellitus, permanent neonatal 4Open Targets
0.04Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.04Suggestive
elliptocytosis 2Open Targets
0.04Suggestive
neonatal intrahepatic cholestasis due to citrin deficiencyOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
maturity-onset diabetes of the young type 13Open Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
megaloblastic anemia, folate-responsiveOpen Targets
0.04Suggestive
permanent neonatal diabetes mellitus 1Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression6 tissues
Bone Marrow
100%
Brain
57%
Liver
49%
Heart
47%
Ovary
43%
Lung
40%
Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q7Z5U6
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.54–1.11]
RankingsWhere WDR53 stands among ~20K protein-coding genes
  • #17,218of 20,598
    Most Researched10
  • #11,365of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedWDR53
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Construction and validation of a novel gene signature for predicting the prognosis of osteosarcoma.
PMID: 35075228
Sci Rep Β· 2022
1.00