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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CEP72
centrosomal protein 72
Chromosome 5 · 5p15.33
NCBI Gene: 55722Ensembl: ENSG00000112877.9HGNC: HGNC:25547UniProt: Q9P209
77PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of protein localization to centrosomecentriolar satellitecentrosomealcohol drinkingBarrett's esophagusesophageal adenocarcinomagastroesophageal reflux disease
✦AI Summary

CEP72 is a centriolar satellite protein that plays crucial roles in centrosome function and microtubule organization. It serves as a key regulatory component for recruiting essential centrosomal proteins, including γ-tubulin ring complexes (γ-TuRCs), AKAP9, and KIZ to the centrosome 1. CEP72 interacts with PCM1 and Cep290 within centriolar satellites and is required for proper recruitment of BBS proteins to primary cilia, indicating its importance in ciliary function 2. The protein works in conjunction with the MLL/WDR5 complex to regulate microtubule nucleation and spindle formation during mitosis, with loss of CEP72 leading to spindle defects and chromosome 5 1. Clinically, CEP72 has emerged as a disease-relevant biomarker, with overexpression associated with poor prognosis in multiple myeloma 3 and altered expression linked to spinocerebellar ataxia progression 4. Additionally, genetic variants in CEP72 contribute to vincristine-induced peripheral neuropathy in cancer patients 5. The protein's dysfunction is implicated in various ciliopathies and centrosome-related disorders, highlighting its critical role in cellular organization and human health 6.

Sources cited
1
CEP72 recruits γ-TuRCs, AKAP9, and KIZ to centrosome and works with MLL/WDR5 complex for microtubule nucleation and spindle formation
PMID: 39661677
2
CEP72 interacts with PCM1 and Cep290 in centriolar satellites and is required for BBS protein recruitment to cilia
PMID: 22767577
3
CEP72 overexpression is associated with poor prognosis in multiple myeloma
PMID: 36782078
4
CEP72 expression changes are linked to spinocerebellar ataxia progression
PMID: 37071051
5
Genetic variants in CEP72 contribute to vincristine-induced peripheral neuropathy
PMID: 35150001
6
CEP72 dysfunction is implicated in ciliopathies and centrosome-related disorders
PMID: 40248994
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.41Moderate
Barrett's esophagusOpen Targets
0.35Weak
esophageal adenocarcinomaOpen Targets
0.34Weak
gastroesophageal reflux diseaseOpen Targets
0.24Weak
lung disease associated with cystic fibrosisOpen Targets
0.21Weak
liver diseaseOpen Targets
0.21Weak
ulcerative colitisOpen Targets
0.20Weak
diaphragmatic herniaOpen Targets
0.19Weak
peripheral neuropathyOpen Targets
0.18Weak
osteoarthritis, hipOpen Targets
0.11Weak
osteoarthritis, kneeOpen Targets
0.11Weak
azoospermiaOpen Targets
0.11Weak
peptic ulcer diseaseOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
spermatogenic failure 78Open Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
osteoarthritisOpen Targets
0.07Suggestive
spermatogenic failure 20Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PCM1Protein interaction91%PLK1Protein interaction84%CCDC14Protein interaction81%CEP290Protein interaction80%HAUS6Protein interaction76%KIZShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
91%
Ovary
54%
Liver
47%
Lung
30%
Heart
27%
Gene Interaction Network
Click a node to explore
CEP72PCM1PLK1CCDC14CEP290HAUS6KIZ
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P209
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.16 [0.96–1.41]
RankingsWhere CEP72 stands among ~20K protein-coding genes
  • #6,141of 20,598
    Most Researched77
  • #14,569of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedCEP72
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
MLL/WDR5 complex recruits centriolar satellite protein Cep72 to regulate microtubule nucleation and spindle formation.
PMID: 39661677
Sci Adv · 2024
1.00
2
Contribution of common and rare genetic variants in CEP72 on vincristine-induced peripheral neuropathy in brain tumour patients.
PMID: 35150001
Br J Clin Pharmacol · 2022
0.90
3
CEP72 Emerges as a Key Centriolar Satellite Protein in Health and Disease.
PMID: 40248994
Cytoskeleton (Hoboken) · 2025
0.80
4
Increased expression of CEP72 predicts poor prognosis in multiple myeloma.
PMID: 36782078
Int J Lab Hematol · 2023
0.70
5
Comprehensive assessments of germline deletion structural variants reveal the association between prognostic MUC4 and CEP72 deletions and immune response gene expression in colorectal cancer patients.
PMID: 33431054
Hum Genomics · 2021
0.60