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    CCNB3 cyclin B3 [ Homo sapiens (human) ]

    Gene ID: 85417, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CCNB3provided by HGNC
    Official Full Name
    cyclin B3provided by HGNC
    Primary source
    HGNC:HGNC:18709
    See related
    Ensembl:ENSG00000147082 MIM:300456; AllianceGenome:HGNC:18709
    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
    CYCB3
    Summary
    The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
    Expression
    Biased expression in testis (RPKM 2.9), brain (RPKM 0.3) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCNB3 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (50202713..50351914)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (49520371..49623348)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (49969416..50094913)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene peptide YY 3 (pseudogene) Neighboring gene A-kinase anchoring protein 4 Neighboring gene diacylglycerol kinase kappa Neighboring gene Sharpr-MPRA regulatory region 2913 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:50212987-50213784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:50324379-50325149 Neighboring gene shroom family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:50377907-50378408 Neighboring gene RNA, U6 small nuclear 935, pseudogene

    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. Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages. Wang C, et al. J Ovarian Res, 2023 Aug 28. PMID 37635245, Free PMC Article
    2. Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy. Fatemi N, et al. J Med Genet, 2021 Nov. PMID 32938693, Free PMC Article
    3. Molecular cloning, gene localization, and structure of human cyclin B3. Lozano JC, et al. Biochem Biophys Res Commun, 2002 Feb 22. PMID 11846420
    4. Screening of BCOR-CCNB3 sarcoma using immunohistochemistry for CCNB3: A clinicopathological report of three pediatric cases. Shibayama T, et al. Pathol Int, 2015 Aug. PMID 26037154
    5. Proteomic identification of overexpressed adenomatous polyposis coli and cyclin B3 during endoderm differentiation from human embryonic stem cells. Lee DH, et al. Pancreas, 2011 Mar. PMID 21404461

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages.
      Title: Mutations in CCNB3 affect its location thus causing a multiplicity of phenotypes in human oocytes maturation by aberrant CDK1 activity and APC/C activity at different stages.
    2. A global collaboRAtive study of CIC-rearranged, BCOR::CCNB3-rearranged and other ultra-rare unclassified undifferentiated small round cell sarcomas (GRACefUl).
      Title: A global collaboRAtive study of CIC-rearranged, BCOR::CCNB3-rearranged and other ultra-rare unclassified undifferentiated small round cell sarcomas (GRACefUl).
    3. Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
      Title: Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy.
    4. Imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations.
      Title: Imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations.
    5. report two patients with clear cell sarcoma of the kidney showing BCOR-CCNB3 (where CCNB3 is cyclin B3) fusion
      Title: BCOR-CCNB3 fusion-positive clear cell sarcoma of the kidney.
    6. Detection of fusion transcripts BCOR-CCNB3 in the bone marrow suggests that undifferentiated sarcoma patients with positive findings are at high risk of tumor progression.
      Title: An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study.
    7. Immunohistochemistry for either CCNB3 or BCOR is not completely sensitive and specific in undifferentiated sarcoma with BCOR-CCNB3 fusion.
      Title: Clinicopathologic Diversity of Undifferentiated Sarcoma With BCOR-CCNB3 Fusion: Analysis of 11 Cases With a Reappraisal of the Utility of Immunohistochemistry for BCOR and CCNB3.
    8. Case Reports: renal sarcomas with BCOR-CCNB3 gene fusion showing histological overlap with BCOR-related clear cell sarcoma of the kidney.
      Title: Primary Renal Sarcomas With BCOR-CCNB3 Gene Fusion: A Report of 2 Cases Showing Histologic Overlap With Clear Cell Sarcoma of Kidney, Suggesting Further Link Between BCOR-related Sarcomas of the Kidney and Soft Tissues.
    9. CCNB3 immunostaining was useful for differentiating BCOR-CCNB3 from a group of 'Ewing-like sarcomas' and may contribute to the evaluation of treatment strategies for bone sarcomas.
      Title: Screening of BCOR-CCNB3 sarcoma using immunohistochemistry for CCNB3: A clinicopathological report of three pediatric cases.
    10. This study adds to recent reports on the clinicopathologic spectrum of BCOR-CCNB3 fusion-positive sarcomas, a newly emerging entity within the undifferentiated unclassified sarcoma category
      Title: BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr The human Vpr interacting protein (hVIP/MOV34) is a likely cellular cofactor for HIV-1 Vpr inactivation of the cdc2-cyclin B kinase complex and induction of cell cycle arrest PubMed
    vpr Data suggests that HIV-1 Vpr transactivation of the HIV-LTR promoter occurs through the inhibition of p300-associated cdc2-cyclin B kinase complex activity which enhances transcriptional activation by Rel A and p300 PubMed
    vpr Inactivation of the cdc2-cyclin B kinase complex by HIV-1 Vpr leads to the activation of Poly(A) polymerase PubMed
    vpr Inactivation of the cdc2-cyclin B kinase complex and arrest in the G2 phase of the cell cycle has been mapped to the C-terminus of HIV-1 Vpr, including amino acids 73, 80 and 84-96 PubMed
    vpr HIV-1 Vpr inactivates the cdc2-cyclin B kinase complex by inactivating cdc25C, the phosphatase that dephosphorylates and activates cdc2 PubMed
    vpr HIV-1 Vpr inactivates the cdc2-cyclin B kinase complex by inhibiting the dephosphorylation of cdc2 tyrosine 15, leading to arrest in the G2 phase of the cell cycle PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    G2/mitotic-specific cyclin-B3

    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_012880.2 RefSeqGene

      Range
      7054..104203
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033031.3 → NP_149020.2  G2/mitotic-specific cyclin-B3 isoform 3

      See identical proteins and their annotated locations for NP_149020.2

      Status: REVIEWED

      Source sequence(s)
      AC235789, AC239396, FO681501
      Consensus CDS
      CCDS14331.1
      UniProtKB/Swiss-Prot
      B1AQI5, B1AQI6, Q8WWL7, Q96SB5, Q96SB6, Q96SB7, Q9NT38
      UniProtKB/TrEMBL
      A8K8T9
      Related
      ENSP00000365210.1, ENST00000376042.6
      Conserved Domains (2) summary
      pfam00134
      Location:1132 → 1257
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:1259 → 1375
      Cyclin_C; Cyclin, C-terminal domain

    2. NM_033670.4 → NP_391990.1  G2/mitotic-specific cyclin-B3 isoform 1

      See identical proteins and their annotated locations for NP_391990.1

      Status: REVIEWED

      Source sequence(s)
      AC239396, FO681501
      Consensus CDS
      CCDS14332.1
      UniProtKB/Swiss-Prot
      Q8WWL7
      Related
      ENSP00000338682.2, ENST00000348603.2
      Conserved Domains (2) summary
      pfam00134
      Location:71 → 153
      Cyclin_N; Cyclin, N-terminal domain
      cl25647
      Location:71 → 262
      Cyclin_N2; N-terminal region of cyclin_N

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      50202713..50351914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029915.1 → XP_016885404.1  G2/mitotic-specific cyclin-B3 isoform X1

      UniProtKB/TrEMBL
      A8K8T9
      Conserved Domains (2) summary
      pfam00134
      Location:1133 → 1266
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:1268 → 1384
      Cyclin_C; Cyclin, C-terminal domain

    2. XM_047442599.1 → XP_047298555.1  G2/mitotic-specific cyclin-B3 isoform X3

    3. XM_047442600.1 → XP_047298556.1  G2/mitotic-specific cyclin-B3 isoform X4

      UniProtKB/Swiss-Prot
      B1AQI5, B1AQI6, Q8WWL7, Q96SB5, Q96SB6, Q96SB7, Q9NT38
      Related
      ENSP00000276014.7, ENST00000276014.11

    4. XM_017029914.2 → XP_016885403.1  G2/mitotic-specific cyclin-B3 isoform X1

      UniProtKB/TrEMBL
      A8K8T9
      Conserved Domains (2) summary
      pfam00134
      Location:1133 → 1266
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:1268 → 1384
      Cyclin_C; Cyclin, C-terminal domain

    5. XM_017029913.1 → XP_016885402.1  G2/mitotic-specific cyclin-B3 isoform X1

      UniProtKB/TrEMBL
      A8K8T9
      Conserved Domains (2) summary
      pfam00134
      Location:1133 → 1266
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:1268 → 1384
      Cyclin_C; Cyclin, C-terminal domain

    6. XM_017029917.1 → XP_016885406.1  G2/mitotic-specific cyclin-B3 isoform X3

      UniProtKB/TrEMBL
      A8K8T9
      Conserved Domains (2) summary
      pfam00134
      Location:1133 → 1258
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:1260 → 1376
      Cyclin_C; Cyclin, C-terminal domain

    7. XM_017029916.1 → XP_016885405.1  G2/mitotic-specific cyclin-B3 isoform X2

      UniProtKB/TrEMBL
      A8K8T9

    8. XM_024452472.2 → XP_024308240.1  G2/mitotic-specific cyclin-B3 isoform X1

      UniProtKB/TrEMBL
      A8K8T9
      Conserved Domains (2) summary
      pfam00134
      Location:1133 → 1266
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:1268 → 1384
      Cyclin_C; Cyclin, C-terminal domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160028.1 Reference GRCh38.p14 PATCHES

      Range
      24475..28824
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      49520371..49623348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328022.1 → XP_054183997.1  G2/mitotic-specific cyclin-B3 isoform X1

    2. XM_054328026.1 → XP_054184001.1  G2/mitotic-specific cyclin-B3 isoform X3

    3. XM_054328027.1 → XP_054184002.1  G2/mitotic-specific cyclin-B3 isoform X4

      UniProtKB/Swiss-Prot
      B1AQI5, B1AQI6, Q8WWL7, Q96SB5, Q96SB6, Q96SB7, Q9NT38

    4. XM_054328021.1 → XP_054183996.1  G2/mitotic-specific cyclin-B3 isoform X1

    5. XM_054328020.1 → XP_054183995.1  G2/mitotic-specific cyclin-B3 isoform X1

    6. XM_054328025.1 → XP_054184000.1  G2/mitotic-specific cyclin-B3 isoform X3

    7. XM_054328024.1 → XP_054183999.1  G2/mitotic-specific cyclin-B3 isoform X2

    8. XM_054328023.1 → XP_054183998.1  G2/mitotic-specific cyclin-B3 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033671.1: Suppressed sequence

      Description
      NM_033671.1: 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
    Q8WWL7.2 GenPept UniProtKB/Swiss-Prot:Q8WWL7

    Gene LinkOut

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

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