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GeneE
10 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.
CCNO
cyclin O
Chromosome 5 Β· 5q11.2
NCBI Gene: 10309Ensembl: ENSG00000152669.9HGNC: HGNC:18576UniProt: P22674
26PubMed Papers
21Diseases
0Drugs
37Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytoplasmmitotic cell cyclenucleolusprimary ciliary dyskinesiagenetic disorderlung adenocarcinomaHydrocephalus
✦AI Summary

CCNO (cyclin O) is a cell cycle regulator specifically required for multiciliated cell (MCC) differentiation. CCNO acts downstream of MCIDAS to promote centriole amplification and maturation, which are essential for cilia generation 1. Mechanistically, CCNO controls entry into a specialized cell-cycle variant characterized by wave-like expression of canonical and non-canonical cyclins; its absence blocks the G1/S-like transition of this variant and interrupts the centriologenesis transcription program, compromising centriole and cilia production in both brain and respiratory tissues 2. Mutations in CCNO cause reduced generation of motile cilia (RGMC), a subtype of primary ciliary dyskinesia (PCD) characterized by insufficient multiciliated cells in the respiratory and reproductive tracts 12. CCNO mutations represent approximately 5.9% of PCD cases in some cohorts 3. Clinically, CCNO-associated PCD correlates with significantly more severe lung disease (median FEV1 z-score: -3.26), indicating accelerated lung function decline compared to other PCD genotypes 4. Additionally, biallelic CCNO mutations cause infertility due to abnormal gamete transport in reproductive ducts with reduced multiciliated cells; however, assisted reproduction techniques (IVF/ICSI) successfully restore fertility in affected individuals 1.

Sources cited
1
CCNO acts downstream of MCIDAS to regulate basal body/centriole biogenesis for multiciliogenesis and causes infertility due to reduced multiciliated cells in reproductive tract
PMID: 34569065
2
CCNO controls entry into the MCC cell-cycle variant by regulating G1/S-like transition and centriologenesis transcription program
PMID: 39740663
3
CCNO mutations identified in 3/51 PCD patients with genetic variants, contributing to disease spectrum
PMID: 33577779
4
CCNO variants associated with significantly lower FEV1 z-scores (-3.26) indicating more severe lung disease in PCD patients
PMID: 38871375
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.78Strong
genetic disorderOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
HydrocephalusOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
gastrointestinal diseaseOpen Targets
0.02Suggestive
intestinal diseaseOpen Targets
0.02Suggestive
infertilityOpen Targets
0.02Suggestive
gliomaOpen Targets
0.02Suggestive
HIV infectionOpen Targets
0.02Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.02Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
skin squamous cell carcinomaOpen Targets
0.01Suggestive
pituitary cancerOpen Targets
0.01Suggestive
Ciliary dyskinesia, primary, 29UniProt
Pathogenic Variants37
NM_021147.5(CCNO):c.538dup (p.Val180fs)Pathogenic
Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 180
NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)Pathogenic
Primary ciliary dyskinesia 29|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 85
NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)Pathogenic
Primary ciliary dyskinesia 29|Primary ciliary dyskinesia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 88
NM_021147.5(CCNO):c.263_267dup (p.Val90fs)Pathogenic
Primary ciliary dyskinesia 29|Primary ciliary dyskinesia
β˜…β˜…β˜†β˜†2025β†’ Residue 90
NM_021147.5(CCNO):c.259_268dup (p.Val90fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 29
β˜…β˜…β˜†β˜†2025β†’ Residue 90
NM_021147.5(CCNO):c.307C>T (p.Gln103Ter)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 29
β˜…β˜…β˜†β˜†2025β†’ Residue 103
NM_021147.5(CCNO):c.427dup (p.Val143fs)Pathogenic
Primary ciliary dyskinesia|Primary ciliary dyskinesia 29
β˜…β˜…β˜†β˜†2024β†’ Residue 143
NM_021147.5(CCNO):c.12_13del (p.Cys5fs)Likely pathogenic
Primary ciliary dyskinesia 29
β˜…β˜†β˜†β˜†2026β†’ Residue 5
NM_021147.5(CCNO):c.379C>T (p.Gln127Ter)Pathogenic
Primary ciliary dyskinesia 29
β˜…β˜†β˜†β˜†2026β†’ Residue 127
NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)Likely pathogenic
Primary ciliary dyskinesia 29|Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 321
NM_021147.5(CCNO):c.875_897del (p.Asp292fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2026β†’ Residue 292
NM_021147.5(CCNO):c.302del (p.Tyr101fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 101
NM_021147.5(CCNO):c.910dup (p.Arg304fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 304
NM_021147.5(CCNO):c.619_620dup (p.Phe208fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 208
NM_021147.5(CCNO):c.638T>C (p.Leu213Pro)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 213
NM_021147.5(CCNO):c.258_262del (p.Gln88fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 88
NM_021147.5(CCNO):c.617dup (p.Ala207fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2025β†’ Residue 207
NM_021147.5(CCNO):c.203C>A (p.Ser68Ter)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2024β†’ Residue 68
NM_021147.5(CCNO):c.248dup (p.Pro84fs)Pathogenic
Primary ciliary dyskinesia
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_021147.5(CCNO):c.425del (p.Pro142fs)Pathogenic
Primary ciliary dyskinesia 29
β˜…β˜†β˜†β˜†2024β†’ Residue 142
View on ClinVar β†—
Related Genes
CCNA2Protein interaction100%CDK1Protein interaction99%CDK3Protein interaction93%CKS1BProtein interaction93%CKS2Protein interaction93%CDC20BProtein interaction78%
Tissue Expression6 tissues
Brain
100%
Ovary
50%
Lung
10%
Liver
10%
Bone Marrow
5%
Heart
1%
Gene Interaction Network
Click a node to explore
CCNOCCNA2CDK1CDK3CKS1BCKS2CDC20B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P22674
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.70LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.22 [0.88–1.70]
RankingsWhere CCNO stands among ~20K protein-coding genes
  • #12,747of 20,598
    Most Researched26
  • #1,634of 5,498
    Most Pathogenic Variants37
  • #16,099of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedCCNO
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
PMID: 33577779
Chest Β· 2021
1.00
2
Base excision repair.
PMID: 23545420
Cold Spring Harb Perspect Biol Β· 2013
0.90
3
Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
PMID: 34569065
Clin Genet Β· 2021
0.80
4
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
PMID: 38871375
Eur Respir J Β· 2024
0.70
5
Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.
PMID: 39740663
Cell Rep Β· 2025
0.60