CCNO Chromosome 5
Cyclin O
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What This Gene Does
This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
Cyclins
Locus Type
gene with protein product
Location
5q11.2
Ensembl
ENSG00000152669
Associated Conditions (3)
Primary ciliary dyskinesia
Primary ciliary dyskinesia 29
Inborn genetic diseases
Key Variants
RS139606873
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
Health Risk
RS372247606
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia
Health Risk
RS1554019966
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1580411207
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1745570250
Likely pathogenic
Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
Health Risk
RS1745611424
Likely pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS2478547757
Likely pathogenic
Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
Health Risk
RS2478547859
Likely pathogenic
Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
Health Risk
RS587777501
Likely pathogenic
Primary ciliary dyskinesia 29, Primary ciliary dyskinesia, Primary ciliary dyskinesia 29
Health Risk
RS1060503388
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1176911729
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia
Health Risk
RS1398588555
Pathogenic
Primary ciliary dyskinesia, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139606873 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia |
| RS372247606 | Health Risk | Conflicting classifications of pathogenicity | Primary ciliary dyskinesia, Inborn genetic diseases, Primary ciliary dyskinesia |
| RS1554019966 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580411207 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1745570250 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29 |
| RS1745611424 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2478547757 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29 |
| RS2478547859 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29 |
| RS587777501 | Health Risk | Likely pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia, Primary ciliary dyskinesia 29 |
| RS1060503388 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1176911729 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1398588555 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia |
| RS1561121987 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580412021 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1745583820 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1745647423 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2111713642 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29 |
| RS2478548362 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2478548428 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS587777498 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia, Primary ciliary dyskinesia 29 |
| RS587777499 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia, Primary ciliary dyskinesia 29 |
| RS587777500 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29 |
| RS587777502 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia, Primary ciliary dyskinesia 29 |
| RS587777503 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia, Primary ciliary dyskinesia 29 |
| RS746493440 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia |
| RS752106293 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS752527657 | Health Risk | Pathogenic | Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29 |
| RS769899297 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS775051461 | Health Risk | Pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1436895387 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia 29, Primary ciliary dyskinesia |
| RS774393276 | Health Risk | Pathogenic/Likely pathogenic | Primary ciliary dyskinesia, Primary ciliary dyskinesia |