Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10309
Gene name	Cyclin O
Gene symbol	CCNO
Synonyms (NCBI Gene)	CCNUCILD29UDG2
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

Show/Hide all (16)

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

Show/Hide all (14)

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

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
607752	18576	ENSG00000152669

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

Interactions

View interactions

186

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Primary ciliary dyskinesia	Pathogenic; Likely pathogenic	rs746493440, rs587777498, rs587777499, rs587777501, rs587777502, rs587777503, rs1745647423, rs2478548362, rs2478548428, rs752106293, rs775051461, rs1060503388, rs1554019966, rs774393276, rs1580412021 View all (8 more)	RCV002002408 RCV000472435 RCV000548995 RCV003534367 RCV000527185 RCV003534368 RCV002853009 RCV003650971 RCV003651282 RCV003822724 RCV000470093 RCV000464206 RCV000629400 RCV000629424 RCV000823212 RCV000823395 RCV000799590 RCV000803761 RCV001067473 RCV001039617 RCV001041354 RCV001223912 RCV001255295
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

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CCNO-related disorder	Benign; Uncertain significance; Likely benign	rs7712656, rs368155527, rs139980939, rs746811253, rs143418535, rs1299342018	RCV004751552 RCV003925389 RCV003418200 RCV003418201 RCV003938242 RCV003405280
Cervical cancer	Likely benign	rs201505004	RCV005915086
Cholangiocarcinoma	Benign	rs72749883	RCV005898188
Familial cancer of breast	Likely benign	rs368489305	RCV005931274
Familial pancreatic carcinoma	Benign	rs72749883	RCV005898184
Lung cancer	Likely benign	rs201505004	RCV005915087
Lymphoma	Benign	rs72749883	RCV005898185
Nonpapillary renal cell carcinoma	Benign	rs72749883	RCV005898181
Ovarian cancer	Benign	rs72749883	RCV005898182
Thymoma	Benign	rs72749883	RCV005898187
Uterine carcinosarcoma	Benign	rs72749883	RCV005898186
Uveal melanoma	Benign	rs72749883	RCV005898183

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ciliary Motility Disorders	Associate	24824133, 26123568, 28801648, 32464346, 33577779, 34088001
Hereditary renal agenesis	Associate	24824133
Immotile cilia syndrome due to excessively long cilia	Associate	32464346
Ocular Motility Disorders	Associate	25048963

CCNO (cyclin O)