CCNO (cyclin O)

Gene

• Entrez ID: 10309
• Gene name: Cyclin O
• Gene symbol: CCNO
• Synonyms (NCBI Gene): CCNU, CILD29, UDG2
• Chromosome: 5
• Chromosome location: 5q11.2
• Summary: 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 var

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777498	CAGGG>-,CAGGGCAGGG	Pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs587777499	->CGGGC,CGGGCCGGGC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs587777500	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777501	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs587777502	->TGGGC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant, coding sequence variant
rs587777503	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs752527657	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs774393276	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs775051461	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs797045150	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1060503388	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1398588555	->TGGGCCGGGC	Pathogenic	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554019966	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1561121987	G>-	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1580411207	C>A	Likely-pathogenic	Splice acceptor variant, non coding transcript variant
rs1580412021	T>-	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024544	hsa-miR-215-5p	Microarray	19074876
MIRT026829	hsa-miR-192-5p	Microarray	19074876
MIRT714734	hsa-miR-4719	HITS-CLIP	19536157
MIRT714733	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT714734	hsa-miR-4719	HITS-CLIP	19536157
MIRT714733	hsa-miR-4446-5p	HITS-CLIP	19536157
MIRT872677	hsa-miR-1184	CLIP-seq
MIRT872678	hsa-miR-1301	CLIP-seq
MIRT872679	hsa-miR-3146	CLIP-seq
MIRT872680	hsa-miR-4660	CLIP-seq
MIRT872681	hsa-miR-4699-3p	CLIP-seq
MIRT872682	hsa-miR-4704-5p	CLIP-seq
MIRT872683	hsa-miR-487b	CLIP-seq
MIRT872684	hsa-miR-5047	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IBA
GO:0000278	Process	Mitotic cell cycle	IDA	8419333
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	28860486
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24747639
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA
GO:0030030	Process	Cell projection organization	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0051301	Process	Cell division	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	24747639
GO:0072520	Process	Seminiferous tubule development	IEA
GO:1903251	Process	Multi-ciliated epithelial cell differentiation	IMP	24747639

Other IDs

• MIM: 607752
• HGNC: 18576
• e!Ensembl: ENSG00000152669

Protein

• UniProt ID: P22674
• Protein name: Cyclin-O
• Protein function: Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Acts downstream of MCIDAS to promote mother centriole amplification and maturation in p
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00134	Cyclin_N	104 → 229	Cyclin, N-terminal domain	Domain
  PF02984	Cyclin_C	231 → 344	Cyclin, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in respiratory cells (at protein level). {ECO:0000269|PubMed:24747639}.
• Sequence:

  MVTPCPTSPSSPAARAGRRDNDQNLRAPVKKSRRPRLRRKQPLHPLNPCPLPGDSGICDL
  FESPSSGSDGAESPSAARGGSPLPGPAQPVAQLDLQTFRDYGQSCYAFRKAQESHFHPRE
  ALARQPQVTAESRCKLLSWLIPVHRQFGLSFESLCLTVNTLDRFLTTTPVAADCFQLLGV
  TSLLIACKQVEVHPPRVKQLLALCCGAFSRQQLCNLECIVLHKLHFTLGAPTISFFLEHF
  THARVEAGQAEASEALEAQALARGVAELSLADYAFTSYSPSLLAICCLALADRMLRVSRP
  VDLRLGDHPEAALEDCMGKLQLLVAINSTSLTHMLPVQICEKCSLPPSSK

• Sequence length: 350

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs746493440, rs587777498, rs587777499, rs587777501, rs587777502, rs587777503, rs1745647423, rs2478548362, rs2478548428, rs752106293, rs775051461, rs1060503388, rs1554019966, rs774393276, rs1580412021, rs1398588555, rs1561121987, rs1580411207, rs1176911729, rs769899297, rs1745583820, rs1436895387, rs1745611424	RCV002002408 RCV000472435 RCV000548995 RCV003534367 RCV000527185 RCV003534368 RCV002853009 RCV003650971 RCV003651282 RCV003822724 RCV000470093 RCV000464206 RCV000629400 RCV000629424 RCV000823212 RCV000823395 RCV000799590 RCV000803761 RCV001067473 RCV001039617 RCV001041354 RCV001223912 RCV001255295	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia 29	Pathogenic; Likely pathogenic	rs2111713642, rs746493440, rs587777498, rs587777499, rs587777500, rs587777501, rs587777502, rs587777503, rs2478547757, rs2478547859, rs1398588555, rs752527657, rs1745570250, rs1436895387	RCV001808108 RCV005868484 RCV000128540 RCV000128541 RCV000128542 RCV000128543 RCV000128544 RCV000128555 RCV003148190 RCV003229533 RCV001731947 RCV000984991 RCV001250892 RCV005040046	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CCNO-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 29	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF NASOPHARYNX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES, OBSTRUCTIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	16038527		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	23896377, 23948976, 27501915		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	16645619		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	16038527		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	ORPHANET_DG	24747639, 24824133		★☆☆☆☆ Found in Text Mining only
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Ciliary Dyskinesia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CILIARY DYSKINESIA, PRIMARY, 29	Ciliary dyskinesia	UNIPROT_DG	24747639, 26777464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 29	Ciliary dyskinesia	GENOMICS_ENGLAND_DG	24747639, 30166424		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 29	Ciliary dyskinesia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 29	Ciliary dyskinesia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG	24747639, 24824133, 26139845, 26777464		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	Pubtator	24824133, 26123568, 28801648, 32464346, 33577779, 34088001	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliary Motility Disorders	Ciliary dyskinesia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conductive hearing loss	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	3173387		★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16038527, 21807073, 26762204, 27396951, 29388033, 29892208		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21807073, 26762204, 27396951, 28825189, 29388033, 29892208		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29948765		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	26777464, 29245899		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kartagener Syndrome	Kartagener Syndrome	ORPHANET_DG	24747639, 24824133		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24747639, 31765523		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	CTD_human_DG	24747639		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Obstructive	Lung Diseases	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Glioma	Glioma	BEFREE	24952577, 29892208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30464498		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30464498		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23896377, 24952577, 27501915, 31092461		★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	16038527		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polynesian Bronchiectasis	Kartagener syndrome	ORPHANET_DG	24747639, 24824133		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	ORPHANET_DG	24747639, 24824133		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary ciliary dyskinesia	Ciliary dyskinesia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	24824133		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhinitis	Rhinitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30464498		★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	28825189		★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	16038527		★☆☆☆☆ Found in Text Mining only