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: 2... See more...

Aliases for CCNO Gene

Aliases for CCNO Gene

  • Cyclin O 2 3 5
  • Cyclin-O 3 4
  • Cyclin U 2 3
  • Cyclin Domain Containing 3
  • CILD29 3
  • UDG2 3
  • CCNU 3

External Ids for CCNO Gene

Previous HGNC Symbols for CCNO Gene

  • CCNU

Previous GeneCards Identifiers for CCNO Gene

  • GC05M054564
  • GC05M054565
  • GC05M054526
  • GC05M051499

Summaries for CCNO Gene

Entrez Gene Summary for CCNO Gene

  • 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]

GeneCards Summary for CCNO Gene

CCNO (Cyclin O) is a Protein Coding gene. Diseases associated with CCNO include Ciliary Dyskinesia, Primary, 29 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include protein kinase binding and uracil DNA N-glycosylase activity. An important paralog of this gene is CCNA1.

UniProtKB/Swiss-Prot Summary for CCNO Gene

  • 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 preparation for apical docking.

Gene Wiki entry for CCNO Gene

Additional gene information for CCNO Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCNO Gene

Genomics for CCNO Gene

GeneHancer (GH) Regulatory Elements for CCNO Gene

Promoters and enhancers for CCNO Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J055231 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 513.3 +0.5 479 4.1 PHF8 ZFX CTCF ZIC2 POLR2A ZBTB11 ZNF423 ZBTB26 SAP30 RFX1 ENSG00000251307 CCNO MCIDAS
GH05J055159 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 19.9 +72.7 72730 2.8 ZNF217 CTCF PHF8 TEAD4 REST POLR2A TRIM28 RAD21 EZH2 ATF2 HSALNG0041862 GPX8 CCNO ENSG00000251307 ENSG00000249016 ENSG00000226810 SNX18 CDC20B MIR449A
GH05J055175 Enhancer 1.2 FANTOM5 ENCODE 22.3 +57.1 57138 0.4 HNRNPK NRF1 CTCF ZIC2 ZNF423 ZBTB26 TARDBP MYC CTBP1 ZNF341 CCNO ENSG00000251307 CDC20B piR-53805
GH05J055532 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -300.8 -300784 5.4 ZNF217 NRF1 POLR2G PHF8 ZFX ZNF639 ZIC2 POLR2A ZBTB10 CLOCK RNF138P1 PLPP1 lnc-SLC38A9-5 CCNO MIR5687 RF00017-4619
GH05J055304 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 9.9 -73.5 -73484 5.6 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G SP1 BCLAF1 GTF2E2 PHF8 MTREX DHX29 NONHSAG040397.2 SLC38A9 CCNO RNF138P1 RF00017-4617 lnc-DHX29-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCNO on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCNO

Top Transcription factor binding sites by QIAGEN in the CCNO gene promoter:
  • Arnt
  • CP2
  • CUTL1
  • GATA-1
  • ITF-2
  • NF-1
  • Pax-3
  • Pax-6
  • Tal-1beta
  • ZIC2

Genomic Locations for CCNO Gene

Genomic Locations for CCNO Gene
chr5:55,231,152-55,233,717
(GRCh38/hg38)
Size:
2,566 bases
Orientation:
Minus strand
chr5:54,526,980-54,529,508
(GRCh37/hg19)
Size:
2,529 bases
Orientation:
Minus strand

Genomic View for CCNO Gene

Genes around CCNO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCNO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCNO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCNO Gene

Proteins for CCNO Gene

  • Protein details for CCNO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22674-CCNO_HUMAN
    Recommended name:
    Cyclin-O
    Protein Accession:
    P22674
    Secondary Accessions:
    • A8K1W5
    • Q0P6J2
    • Q9H6B0
    • Q9UMD5

    Protein attributes for CCNO Gene

    Size:
    350 amino acids
    Molecular mass:
    38096 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB05817.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305}; Sequence=CAA36728.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCNO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCNO Gene

Post-translational modifications for CCNO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCNO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CCNO

No data available for DME Specific Peptides for CCNO Gene

Domains & Families for CCNO Gene

Gene Families for CCNO Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CCNO Gene

Blocks:
  • Cyclin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCNO Gene

GenScript: Design optimal peptide antigens:
  • Cyclin-O (CCNO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22674

UniProtKB/Swiss-Prot:

CCNO_HUMAN :
  • Belongs to the cyclin family.
Family:
  • Belongs to the cyclin family.
genes like me logo Genes that share domains with CCNO: view

Function for CCNO Gene

Molecular function for CCNO Gene

UniProtKB/Swiss-Prot 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 preparation for apical docking.

Phenotypes From GWAS Catalog for CCNO Gene

Gene Ontology (GO) - Molecular Function for CCNO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 contributes_to protein kinase activity IBA 21873635
GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity IBA 21873635
GO:0019901 protein kinase binding IBA 21873635
genes like me logo Genes that share ontologies with CCNO: view
genes like me logo Genes that share phenotypes with CCNO: view

Human Phenotype Ontology for CCNO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CCNO Gene

MGI Knock Outs for CCNO:
  • Ccno Ccno<tm1b(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for CCNO Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCNO

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CCNO Gene

Localization for CCNO Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCNO Gene

Cytoplasm. Note=Localizes to the apical part of cytoplasm. {ECO:0000269 PubMed:24747639}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCNO gene
Compartment Confidence
cytoskeleton 4
nucleus 4
mitochondrion 2
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CCNO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000307 cyclin-dependent protein kinase holoenzyme complex IBA 21873635
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IDA,IBA 24747639
GO:0005813 centrosome IBA 21873635
genes like me logo Genes that share ontologies with CCNO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCNO Gene

Pathways & Interactions for CCNO Gene

PathCards logo

SuperPathways for CCNO Gene

No Data Available

Pathways by source for CCNO Gene

1 GeneTex pathway for CCNO Gene

Gene Ontology (GO) - Biological Process for CCNO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000079 regulation of cyclin-dependent protein serine/threonine kinase activity IBA 21873635
GO:0000278 mitotic cell cycle IDA 8419333
GO:0006468 protein phosphorylation IEA --
GO:0007049 cell cycle IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with CCNO: view

No data available for SIGNOR curated interactions for CCNO Gene

Drugs & Compounds for CCNO Gene

(1) Drugs for CCNO Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CCNO Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CCNO: view

Transcripts for CCNO Gene

mRNA/cDNA for CCNO Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCNO

Alternative Splicing Database (ASD) splice patterns (SP) for CCNO Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c
SP1: - - -
SP2:
SP3: -
SP4:

Relevant External Links for CCNO Gene

GeneLoc Exon Structure for
CCNO

Expression for CCNO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCNO Gene

mRNA differential expression in normal tissues according to GTEx for CCNO Gene

This gene is overexpressed in Pancreas (x5.1) and Testis (x4.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCNO Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCNO

SOURCE GeneReport for Unigene cluster for CCNO Gene:

Hs.3041

mRNA Expression by UniProt/SwissProt for CCNO Gene:

P22674-CCNO_HUMAN
Tissue specificity: Present in respiratory cells (at protein level).

Evidence on tissue expression from TISSUES for CCNO Gene

  • Pancreas(4.2)
  • Nervous system(4.1)
  • Blood(4)
  • Kidney(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CCNO Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with CCNO: view

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for CCNO Gene

Orthologs for CCNO Gene

This gene was present in the common ancestor of animals.

Orthologs for CCNO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCNO 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCNO 31 30
  • 88.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCNO 31 30
  • 87.84 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccno 17 31 30
  • 81.52 (n)
rat
(Rattus norvegicus)
Mammalia Ccno 30
  • 80.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCNO 31
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCNO 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCNO 31 30
  • 75.03 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCNO 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccno 30
  • 60.73 (n)
Str.1266 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33942 30
zebrafish
(Danio rerio)
Actinopterygii LOC101883490 30
  • 57.89 (n)
ccnd3 31
  • 21 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CycD 31
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 21 (a)
OneToMany
Species where no ortholog for CCNO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCNO Gene

ENSEMBL:
Gene Tree for CCNO (if available)
TreeFam:
Gene Tree for CCNO (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCNO: view image

Paralogs for CCNO Gene

genes like me logo Genes that share paralogs with CCNO: view

Variants for CCNO Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCNO Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
644509 Uncertain Significance: Primary ciliary dyskinesia 55,233,462(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
645504 Pathogenic: Primary ciliary dyskinesia 55,233,358(-) CG/C FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
648428 Uncertain Significance: Primary ciliary dyskinesia 55,233,337(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
648781 Uncertain Significance: Primary ciliary dyskinesia 55,231,577(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
648930 Likely Pathogenic: Primary ciliary dyskinesia 55,232,547(-) C/A SPLICE_ACCEPTOR_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CCNO Gene

Structural Variations from Database of Genomic Variants (DGV) for CCNO Gene

Variant ID Type Subtype PubMed ID
nsv1027090 CNV gain 25217958
nsv830302 CNV gain 17160897

Variation tolerance for CCNO Gene

Residual Variation Intolerance Score: 80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.13; 38.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCNO Gene

Human Gene Mutation Database (HGMD)
CCNO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCNO

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCNO Gene

Disorders for CCNO Gene

MalaCards: The human disease database

(6) MalaCards diseases for CCNO Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CCNO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CCNO_HUMAN
  • Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition. {ECO:0000269 PubMed:24747639, ECO:0000269 PubMed:26777464}. Note=The disease is caused by mutations affecting the gene represented in this entry. Marked reduction of cilia in multiciliate cells due to defective mother centriole generation and placement. Remaining cilia correctly express axonemal motor proteins, are motile and do not show beating defects. Defects are probably caused by a strong reduction in the number of multiple motile cilia covering the cell surface in respiratory epithelial cells (PubMed:24747639). {ECO:0000269 PubMed:24747639}.

Additional Disease Information for CCNO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCNO: view

No data available for Genatlas for CCNO Gene

Publications for CCNO Gene

  1. Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. (PMID: 26777464) Amirav I … Israeli PCD Consortium Investigators (Human mutation 2016) 3 4 54
  2. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. (PMID: 24747639) Wallmeier J … Omran H (Nature genetics 2014) 3 4 54
  3. The cyclin-like uracil DNA glycosylase (UDG) of murine oocytes and its relationship to human and chimpanzee homologues. (PMID: 16697536) Hirst R … Miller D (Gene 2006) 4 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for CCNO Gene

Sources for CCNO Gene