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CCNO cyclin O [ Homo sapiens (human) ]

Gene ID: 10309, updated on 2-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 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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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