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    CCND2 cyclin D2 [ Homo sapiens (human) ]

    Gene ID: 894, updated on 23-Mar-2024

    Summary

    Official Symbol
    CCND2provided by HGNC
    Official Full Name
    cyclin D2provided by HGNC
    Primary source
    HGNC:HGNC:1583
    See related
    Ensembl:ENSG00000118971 MIM:123833; AllianceGenome:HGNC:1583
    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
    MPPH3; KIAK0002
    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 regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]
    Expression
    Ubiquitous expression in adrenal (RPKM 22.1), heart (RPKM 18.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCND2 in Genome Data Viewer
    Location:
    12p13.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (4273762..4305353)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (4280521..4312135)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4382928..4414519)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4226148-4227142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5819 Neighboring gene ribosomal protein L18 pseudogene 9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:4243897-4244502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5820 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4256026-4256526 Neighboring gene CRISPRi-validated cis-regulatory element chr12.200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4146 Neighboring gene uncharacterized LOC105369612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4311299-4312200 Neighboring gene Sharpr-MPRA regulatory region 8601 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4314426-4315336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5823 Neighboring gene CCND2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4147 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4149 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:4381043-4381234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4152 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:4387997-4388189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4389371-4390328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4402781-4403282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:4403283-4403782 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:4429971-4430624 Neighboring gene ribosomal protein S15 pseudogene 7 Neighboring gene TP53 induced glycolysis regulatory phosphatase Neighboring gene fibroblast growth factor 23

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
    MedGen: C4014742 OMIM: 615938 GeneReviews: MPPH Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
    EBI GWAS Catalog
    Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
    EBI GWAS Catalog
    Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts.
    EBI GWAS Catalog
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    EBI GWAS Catalog
    Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 MA natural variant S75X upregulates the expression of two cyclins D2 and D3, and induces significant release of cytokine IL-6, which leads to enhance proliferation of both Epstein-Barr virus (EBV)-infected primary and fully transformed B-lymphocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC102758

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in adult locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to X-ray IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cyclin-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cyclin D2-CDK4 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of cyclin-dependent protein kinase holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cyclin-dependent protein kinase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_034254.2 RefSeqGene

      Range
      5002..36593
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001759.4NP_001750.1  G1/S-specific cyclin-D2

      See identical proteins and their annotated locations for NP_001750.1

      Status: REVIEWED

      Source sequence(s)
      AC006122
      Consensus CDS
      CCDS8524.1
      UniProtKB/Swiss-Prot
      A8K531, P30279, Q13955, Q5U035
      UniProtKB/TrEMBL
      Q53ER2
      Related
      ENSP00000261254.3, ENST00000261254.8
      Conserved Domains (2) summary
      pfam00134
      Location:25152
      Cyclin_N; Cyclin, N-terminal domain
      pfam02984
      Location:154257
      Cyclin_C; Cyclin, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      4273762..4305353
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      4280521..4312135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)