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    CCNO cyclin O [ Homo sapiens (human) ]

    Gene ID: 10309, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCNOprovided by HGNC
    Official Full Name
    cyclin Oprovided by HGNC
    Primary source
    HGNC:HGNC:18576
    See related
    Ensembl:ENSG00000152669 MIM:607752; AllianceGenome:HGNC:18576
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCNU; UDG2; CILD29
    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 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]
    Annotation information
    Note: Due to a common symbol (UNG2) for the specific nuclear isoform of the UNG gene (GeneID 7374) and as a previous symbol for the CCNO gene (GeneID 10309), incorrect attributions of uracil DNA glycosylase activity have been made for CCNO in the scientific literature. CCNO was correctly identified as a cyclin protein family member in PubMed ID: 8419333. HIV-1 interacts with the UNG gene and not with the CCNO gene. [13 Feb 2013]
    Expression
    Broad expression in testis (RPKM 3.3), stomach (RPKM 2.3) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCNO in Genome Data Viewer
    Location:
    5q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (55231152..55233608, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (56058442..56060898, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (54526980..54529436, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cell division cycle 20B Neighboring gene Sharpr-MPRA regulatory region 4084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16009 Neighboring gene MPRA-validated peak5244 silencer Neighboring gene microRNA 449c Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22551 Neighboring gene Sharpr-MPRA regulatory region 9706 Neighboring gene uncharacterized LOC124900978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:54527615-54528254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:54528255-54528894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16013 Neighboring gene Sharpr-MPRA regulatory region 6084 Neighboring gene multiciliate differentiation and DNA synthesis associated cell cycle protein Neighboring gene CCNO divergent transcript Neighboring gene DExH-box helicase 29 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22554 Neighboring gene uncharacterized LOC124900979 Neighboring gene Mtr4 exosome RNA helicase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution. Henriques AR, et al. Pediatr Pulmonol, 2021 Aug. PMID 34102041
    2. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Casey JP, et al. Eur J Hum Genet, 2015 Feb. PMID 24824133, Free PMC Article
    3. Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. Amirav I, et al. Hum Mutat, 2016 Apr. PMID 26777464
    4. Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport. Ma C, et al. Clin Genet, 2021 Dec. PMID 34569065
    5. Isolation and characterization of a human cDNA encoding uracil-DNA glycosylase. Muller SJ, et al. Biochim Biophys Acta, 1991 Feb 16. PMID 2001396

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
      Title: Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport.
    2. Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.
      Title: Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution.
    3. This study presents the crystal structure of the DDB1-DCAF1-HIV-1-Vpr-uracil-DNA glycosylase (cyclin U) complex.
      Title: The DDB1-DCAF1-Vpr-UNG2 crystal structure reveals how HIV-1 Vpr steers human UNG2 toward destruction.
    4. CCNO is mutated more frequently than expected from the rare previous clinical case reports, leads to severe clinical manifestations, and should therefore be considered an important differential diagnosis of mucociliary clearance disorders.
      Title: Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.
    5. CCNO mutations have a role in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
      Title: Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
    6. This publication corrected the mistaken attribution of uracil DNA glycosylase activity to this gene.
      Title: Cell cycle regulation of a human cyclin-like gene encoding uracil-DNA glycosylase.
    7. This publication initially attributed 'uracil-DNA glycosylase' activity to this gene and named it UNG2, but a later publication (PubMed ID: 8419333) more correctly identified UNG2/CCNO as a member of the cyclin protein family.
      Title: Isolation and characterization of a human cDNA encoding uracil-DNA glycosylase.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 29
    MedGen: C4014534 OMIM: 615872 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22422

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cyclin-dependent protein serine/threonine kinase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in multi-ciliated epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cyclin-dependent protein kinase holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cyclin-O
    Names
    cyclin U
    cyclin domain containing

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034201.1 RefSeqGene

      Range
      5110..7566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021147.5 → NP_066970.3  cyclin-O

      See identical proteins and their annotated locations for NP_066970.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AK026075, BC004877
      Consensus CDS
      CCDS34157.1
      UniProtKB/Swiss-Prot
      A8K1W5, P22674, Q0P6J2, Q9H6B0, Q9UMD5
      Related
      ENSP00000282572.4, ENST00000282572.5
      Conserved Domains (2) summary
      pfam00134
      Location:108 → 229
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:231 → 296
      Cyclin_C; Cyclin, C-terminal domain

    RNA

    1. NR_125346.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC004877, BI832060
      Related
      ENST00000501463.2

    2. NR_125347.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5'-terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK026075, BC004877, HY011414

    3. NR_125348.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5'-terminal exon, which extends past a splice site that is used in variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      BC017345

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      55231152..55233608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      56058442..56060898 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001024592.1: Suppressed sequence

      Description
      NM_001024592.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22674.2 GenPept UniProtKB/Swiss-Prot:P22674

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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