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Aliases for CCNO Gene

Aliases for CCNO Gene

  • Cyclin O 2 3 5
  • Cyclin U 2 3
  • Cyclin Domain Containing 3
  • Cyclin-O 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 29: Ccno-Related Primary Ciliary Dyskinesia. GO annotations related to this gene include protein kinase binding and uracil DNA N-glycosylase activity. An important paralog of this gene is CCNA2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for CCNO Gene

Genomics for CCNO Gene

Regulatory Elements for CCNO Gene

Enhancers for CCNO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H055175 1.6 FANTOM5 Ensembl ENCODE 23 +57.3 57318 1 ATF1 ZNF2 ZNF766 GLIS2 ATF7 SP3 SP5 PPARG ZNF592 SMARCA4 CCNO ENSG00000240535 LOC105378973 CDC20B PIR47804 GC05P055180
GH05H055159 0.9 ENCODE 19.9 +72.9 72927 2 TBP INSM2 SIN3A BRCA1 ZNF2 RAD21 RFX5 ZNF366 RCOR1 SMARCA5 CCNO LOC105378973 ENSG00000249016 LOC100130990 SNX18 CDC20B GPX8 MIR449A
GH05H055532 1.3 ENCODE dbSUPER 11.4 -301.0 -300973 3 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 KLF7 SP3 SP5 SKIV2L2 DHX29 CCNO RNF138P1 PLPP1
GH05H054900 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +331.5 331539 2 PKNOX1 MAX BATF RELA POLR2A EED FOS ETV6 RUNX3 CREM GPX8 LOC100130990 ENSG00000249016 MIR449A MIR449B GZMK MIR449C CDC20B ENSG00000240535 SNX18
GH05H055232 1 ENCODE 13.4 +0.1 77 3 ATF1 SIN3A GLI4 ZNF2 ZNF121 GLIS2 SP3 ZNF610 ZSCAN16 RFX3 LOC105378973 CCNO ENSG00000264281 MCIDAS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCNO on UCSC Golden Path with GeneCards custom track

Promoters for CCNO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000314993 -83 801 ATF1 SIN3A GLI4 ZNF2 GLIS2 TSHZ1 ZNF610 ZSCAN16 RFX3 GLIS1
ENSR00000180736 617 201 CTCF KLF1 SUZ12 GLI4 HIC1 ZNF121 GLIS2 POLR2A SCRT2 PRDM10

Genomic Location for CCNO Gene

Chromosome:
5
Start:
55,231,152 bp from pter
End:
55,233,717 bp from pter
Size:
2,566 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

Suggested Antigen Peptide Sequences for CCNO Gene

GenScript: Design optimal peptide antigens:

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.

Gene Ontology (GO) - Molecular Function for CCNO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004844 uracil DNA N-glycosylase activity IDA 12161446
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 tm1b(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for CCNO Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCNO
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
nucleus 5
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CCNO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA 12161446
GO:0005737 cytoplasm IEA,IDA 24747639
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

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:0006284 base-excision repair IDA 12161446
GO:0007049 cell cycle IDA,IEA 8419333
GO:0030030 cell projection organization IEA --
GO:0042493 response to drug IEA --
GO:0051301 cell division IEA,IDA 8419333
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

Unigene Clusters for CCNO Gene

Cyclin O:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCNO
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
CCNO

Expression for CCNO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for CCNO Gene



NURSA nuclear receptor signaling pathways regulating expression of CCNO Gene:

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
Organs:
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

Primer Products

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 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia CCNO 33 34
  • 88.38 (n)
cow
(Bos Taurus)
Mammalia CCNO 33 34
  • 87.84 (n)
mouse
(Mus musculus)
Mammalia Ccno 33 16 34
  • 81.52 (n)
rat
(Rattus norvegicus)
Mammalia Ccno 33
  • 80.74 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCNO 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCNO 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCNO 33 34
  • 75.03 (n)
lizard
(Anolis carolinensis)
Reptilia CCNO 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccno 33
  • 60.73 (n)
Str.1266 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.33942 33
zebrafish
(Danio rerio)
Actinopterygii LOC101883490 33
  • 57.89 (n)
ccnd3 34
  • 21 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CycD 34
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for CCNO Gene

Paralogs for CCNO Gene

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

Variants for CCNO Gene

Sequence variations from dbSNP and Humsavar for CCNO Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs775051461 Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872] 55,231,790(+) TGCAG(A/G)GCTGC nc-transcript-variant, reference, missense
rs797045150 Pathogenic, Ciliary dyskinesia, primary, 29 (CILD29) [MIM:615872] 55,231,712(-) GGAGC(A/G)TTTCA nc-transcript-variant, reference, missense
rs587777498 Pathogenic 55,233,276(+) GGGCA(-/GGGCA)GGGGG nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs587777499 Pathogenic 55,233,266(+) GGGCC(-/GGGCC)GGGCC nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant
rs587777500 Pathogenic 55,231,502(+) CCTCC(-/G)GGTGG nc-transcript-variant, reference, frameshift-variant

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)

Relevant External Links for CCNO Gene

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

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: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 29
  • primary ciliary dyskinesia 29
primary ciliary dyskinesia 29: ccno-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 29
primary ciliary dyskinesia
  • kartagener syndrome
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
- 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}.

Relevant External Links for CCNO

Genetic Association Database (GAD)
CCNO
Human Genome Epidemiology (HuGE) Navigator
CCNO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCNO
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 60
  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 60
  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 22 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 60

Products for CCNO Gene

Sources for CCNO Gene

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