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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WDR93
WD repeat domain 93
Chromosome 15 Β· 15q26.1
NCBI Gene: 56964Ensembl: ENSG00000140527.15HGNC: HGNC:26924UniProt: B4E3E2
6PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
electron transport chainulcerative colitisneoplasmnervous system diseasehepatocellular carcinoma
✦AI Summary

Based on limited published evidence, WDR93 encodes a WD repeat domain-containing protein. The gene was identified as a novel disease-associated locus through whole-exome sequencing of consanguineous families with neurological disorders 1. WDR93 mutations were implicated in recessive neurogenetic disease, though the specific molecular function and detailed clinical phenotype remain to be fully characterized. Further investigation is needed to establish the protein's biochemical role and disease mechanisms.

Sources cited
1
WDR93 identified as a novel recessive gene associated with neurological/neurogenetic disease through exome sequencing of consanguineous families
PMID: 25558065
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
ulcerative colitisOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
influenzaOpen Targets
0.01Suggestive
psychiatric disorderOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
sessile serrated polypOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
urinary bladder carcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_020212.2(WDR93):c.280T>C (p.Tyr94His)Likely pathogenic
Autistic spectrum disorder with isolated skills
β˜†β˜†β˜†β˜†2014β†’ Residue 94
View on ClinVar β†—
Related Genes
ENOX2Shared pathway100%CFAP221Protein interaction87%CYB561Shared pathway50%FDX1Shared pathway50%PDIA5Shared pathway50%NDOR1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
58%
Lung
33%
Brain
31%
Liver
28%
Heart
0%
Gene Interaction Network
Click a node to explore
WDR93ENOX2CFAP221CYB561FDX1PDIA5NDOR1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q6P2C0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.70–1.05]
RankingsWhere WDR93 stands among ~20K protein-coding genes
  • #18,254of 20,598
    Most Researched6
  • #5,492of 5,498
    Most Pathogenic Variants1
  • #10,587of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedWDR93
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep Β· 2015
1.00