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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WDR54
WD repeat domain 54
Chromosome 2 · 2p13.1
NCBI Gene: 84058Ensembl: ENSG00000005448.18HGNC: HGNC:25770UniProt: Q9H977
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein homodimerization activitynegative regulation of receptor internalizationregulation of epidermal growth factor receptor signaling pathwayhead and neck squamous cell carcinomaacute lymphoblastic leukemianeoplasmcancer
✦AI Summary

WDR54 (WD repeat domain 54) functions as an oncogene that regulates multiple signaling pathways involved in cancer progression. The protein plays a critical role in EGF receptor signaling, where it undergoes transglutaminase-mediated cross-linking to form dimers and trimers that regulate ERK pathway activity 1. When cross-linked, WDR54 colocalizes with EGF receptors in specific vesicles, sustaining receptor internalization and controlling degradation after EGF stimulation, thereby enhancing cellular proliferation 1. WDR54 is consistently overexpressed across multiple cancer types including colorectal cancer, head and neck squamous cell carcinoma, T-cell acute lymphoblastic leukemia, bladder cancer, and hepatocellular carcinoma 23456. The protein promotes tumor growth and metastasis through various mechanisms, including regulation of AKT and ERK signaling pathways 24, stabilization of MEMO1 protein to activate IRS1/AKT/β-catenin signaling 5, and enhancement of NF-κB signaling through interaction with RBBP5 6. High WDR54 expression correlates with poor patient prognosis and advanced tumor stages, making it a potential biomarker and therapeutic target 23. Additionally, rare deleterious variants in WDR54 are associated with reduced cell proliferation in induced pluripotent stem cells 7.

Sources cited
1
WDR54 undergoes transglutaminase-mediated cross-linking and regulates EGF receptor signaling by colocalizing in vesicles and controlling receptor internalization
PMID: 30458214
2
WDR54 is overexpressed in colorectal cancer, associated with poor prognosis, and regulates AKT and ERK signaling pathways
PMID: 29987896
3
WDR54 is overexpressed in head and neck squamous cell carcinoma and correlates with poor prognosis and disease progression
PMID: 39739088
4
WDR54 functions as an oncogene in T-cell acute lymphoblastic leukemia by regulating PDPK1/AKT signaling
PMID: 37302808
5
WDR54 promotes bladder cancer tumorigenesis and metastasis by stabilizing MEMO1 and activating IRS1/AKT/β-catenin pathway
PMID: 36627049
6
WDR54 enhances NF-κB signaling through interaction with RBBP5 to promote hepatocellular carcinoma progression
PMID: 41274095
7
Rare deleterious variants in WDR54 are associated with reduced growth in induced pluripotent stem cells
PMID: 40631191
Disease Associationsⓘ20
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
cancerOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
systemic juvenile idiopathic arthritisOpen Targets
0.01Suggestive
head and neck malignant neoplasiaOpen Targets
0.01Suggestive
pancreatic adenocarcinomaOpen Targets
0.01Suggestive
ThymomaOpen Targets
0.01Suggestive
coronary artery diseaseOpen Targets
0.01Suggestive
urinary bladder carcinomaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
adrenal cortex carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OSCP1Protein interaction78%IZUMO1RShared pathway33%SPAM1Shared pathway29%TEX46Shared pathway25%SPACA5Shared pathway25%TMEM95Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Ovary
72%
Bone Marrow
62%
Lung
41%
Heart
24%
Liver
17%
Gene Interaction Network
Click a node to explore
WDR54OSCP1IZUMO1RSPAM1TEX46SPACA5TMEM95
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H977
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.95 [0.75–1.22]
RankingsWhere WDR54 stands among ~20K protein-coding genes
  • #13,798of 20,598
    Most Researched22
  • #12,869of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedWDR54
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel therapeutic targets for head and neck squamous cell carcinoma through bioinformatics analysis.
PMID: 39739088
Sci Rep · 2024
1.00
2
Genetics of growth rate in induced pluripotent stem cells.
PMID: 40631191
bioRxiv · 2025
0.90
3
Transcriptomics-based exploration of ubiquitination-related biomarkers and potential molecular mechanisms in laryngeal squamous cell carcinoma.
PMID: 40355841
BMC Med Genomics · 2025
0.80
4
Clinical significance and biological function of WD repeat domain 54 as an oncogene in colorectal cancer.
PMID: 29987896
Int J Cancer · 2019
0.70
5
Transglutaminase-mediated cross-linking of WDR54 regulates EGF receptor-signaling.
PMID: 30458214
Biochim Biophys Acta Mol Cell Res · 2019
0.60