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Aliases for CCND2 Gene

Aliases for CCND2 Gene

  • Cyclin D2 2 3 5
  • G1/S-Specific Cyclin D2 2
  • G1/S-Specific Cyclin-D2 3
  • KIAK0002 3
  • MPPH3 3

External Ids for CCND2 Gene

Previous GeneCards Identifiers for CCND2 Gene

  • GC12P004120
  • GC12P004275
  • GC12P004253
  • GC12P004382
  • GC12P004318
  • GC12P004585
  • GC12P004691
  • GC12P004855

Summaries for CCND2 Gene

Entrez Gene Summary for CCND2 Gene

  • 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]

GeneCards Summary for CCND2 Gene

CCND2 (Cyclin D2) is a Protein Coding gene. Diseases associated with CCND2 include Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 and Mpph Syndrome. Among its related pathways are HTLV-I infection and Arrhythmogenic right ventricular cardiomyopathy (ARVC). GO annotations related to this gene include protein kinase binding. An important paralog of this gene is CCND1.

UniProtKB/Swiss-Prot for CCND2 Gene

  • Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D2/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (By similarity).

Gene Wiki entry for CCND2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCND2 Gene

Genomics for CCND2 Gene

Regulatory Elements for CCND2 Gene

Enhancers for CCND2 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
GH12F004296 0.7 FANTOM5 18.3 +23.3 23291 0.3 POLR2A CCND2 CCND2-AS1 CCND2-AS2 PARP11 PIR44232
GH12F004201 1.5 FANTOM5 Ensembl ENCODE 14.2 -70.4 -70396 3.7 RNF2 TEAD4 MAX EBF1 ZNF623 POLR2A SMARCA4 POU5F1 KDM1A CCND2 CCND2-AS1 CCND2-AS2 LOC105369612 GC12P005177
GH12F004164 1.2 FANTOM5 Ensembl ENCODE 12.9 -108.8 -108754 1.7 HDGF ATF1 PKNOX1 ZNF2 GLIS2 ZNF207 ZNF263 SP3 TSHZ1 ZSCAN16 CCND2 CCND2-AS1 CCND2-AS2 GC12P005177 LOC105369612
GH12F004030 1.4 FANTOM5 Ensembl ENCODE 12.6 -241.3 -241291 4.2 HDGF PKNOX1 ZFP64 SIN3A FEZF1 GLIS2 KLF7 FOS JUNB REST CCND2 CCND2-AS1 CCND2-AS2 ENSG00000256969 HSPA8P5 RPL18P9 PARP11
GH12F004106 1.4 Ensembl ENCODE 12.4 -166.4 -166371 1.7 HDGF HDAC1 TBP PKNOX1 TBL1XR1 WRNIP1 RAD21 RFX5 ZNF143 ZNF207 CCND2 CCND2-AS1 CCND2-AS2 HSPA8P5 GC12P005187
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCND2 on UCSC Golden Path with GeneCards custom track

Promoters for CCND2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001608955 -1233 7801 HDGF PKNOX1 CREB3L1 WRNIP1 SIN3A ZNF2 ZNF143 ZNF263 SP3 JUNB

Genomic Location for CCND2 Gene

Chromosome:
12
Start:
4,273,733 bp from pter
End:
4,305,356 bp from pter
Size:
31,624 bases
Orientation:
Plus strand

Genomic View for CCND2 Gene

Genes around CCND2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCND2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCND2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCND2 Gene

Proteins for CCND2 Gene

  • Protein details for CCND2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30279-CCND2_HUMAN
    Recommended name:
    G1/S-specific cyclin-D2
    Protein Accession:
    P30279
    Secondary Accessions:
    • A8K531
    • Q13955
    • Q5U035

    Protein attributes for CCND2 Gene

    Size:
    289 amino acids
    Molecular mass:
    33067 Da
    Quaternary structure:
    • Interacts with either CDK4 or CDK6 protein kinase to form a serine/threonine kinase holoenzyme complex. The cyclin subunit imparts substrate specificity to the complex. Component of the ternary complex cyclin D/CDK4/CDKN1B required for nuclear translocation and modulation of CDK4-mediated kinase activity.

    Alternative splice isoforms for CCND2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCND2 Gene

Post-translational modifications for CCND2 Gene

  • Polyubiquitinated by the SCF(FBXL2) complex, leading to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCND2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CCND2 (CCND2)
  • Cloud-Clone Corp. Antibodies for CCND2

No data available for DME Specific Peptides for CCND2 Gene

Domains & Families for CCND2 Gene

Gene Families for CCND2 Gene

Protein Domains for CCND2 Gene

Suggested Antigen Peptide Sequences for CCND2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P30279

UniProtKB/Swiss-Prot:

CCND2_HUMAN :
  • Contains 1 cyclin N-terminal domain.
  • Belongs to the cyclin family. Cyclin D subfamily.
Domain:
  • Contains 1 cyclin N-terminal domain.
Family:
  • Belongs to the cyclin family. Cyclin D subfamily.
genes like me logo Genes that share domains with CCND2: view

Function for CCND2 Gene

Molecular function for CCND2 Gene

GENATLAS Biochemistry:
cyclin D2,regulator of progression through G1 phase during the cell cycle 2,FSH responsive,involved in gonadal cell proliferation and oncogenesis,overexpressed in astrocytomas and in glioblastomas
UniProtKB/Swiss-Prot Function:
Regulatory component of the cyclin D2-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D2/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (By similarity).

Gene Ontology (GO) - Molecular Function for CCND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11896535
GO:0019901 protein kinase binding IPI 8114739
genes like me logo Genes that share ontologies with CCND2: view
genes like me logo Genes that share phenotypes with CCND2: view

Human Phenotype Ontology for CCND2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CCND2 Gene

MGI Knock Outs for CCND2:

Animal Model Products

miRNA for CCND2 Gene

miRTarBase miRNAs that target CCND2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CCND2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CCND2 Gene

Localization for CCND2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCND2 Gene

Nucleus. Cytoplasm. Membrane. Note=Cyclin D-CDK4 complexes accumulate at the nuclear membrane and are then translocated into the nucleus through interaction with KIP/CIP family members. {ECO:0000250}.
Isoform 2: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCND2 Gene COMPARTMENTS Subcellular localization image for CCND2 gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CCND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000307 cyclin-dependent protein kinase holoenzyme complex IDA 8114739
GO:0000785 chromatin IDA 18827403
GO:0005634 nucleus IDA 18827403
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA 18827403
genes like me logo Genes that share ontologies with CCND2: view

Pathways & Interactions for CCND2 Gene

genes like me logo Genes that share pathways with CCND2: view

SIGNOR curated interactions for CCND2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CCND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IDA 8114739
GO:0007049 cell cycle IEA --
GO:0007616 long-term memory IEA --
GO:0008284 positive regulation of cell proliferation IMP 24130168
GO:0008344 adult locomotory behavior IEA --
genes like me logo Genes that share ontologies with CCND2: view

Drugs & Compounds for CCND2 Gene

(22) Drugs for CCND2 Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BAY1000394 Pharma Inhibition, Biomarker CDK4 Inhibitors, CDK2 Inhibitors 0
LEE011 Pharma inhibitor, Biomarker CDK4/6 inhibitor, CDK4 Inhibitors, Kinase Inhibitors 0
LY2835219 Pharma Inhibition, inhibitor, Biomarker CDK4/6 inhibitor,potent and selective, CDK4/6 inhibitor, CDK4 Inhibitors 0
PD-0332991 Pharma Biomarker CDK4 Inhibitors 0

(7) Additional Compounds for CCND2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CCND2: view

Transcripts for CCND2 Gene

Unigene Clusters for CCND2 Gene

Cyclin D2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CCND2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCND2 Gene

No ASD Table

Relevant External Links for CCND2 Gene

GeneLoc Exon Structure for
CCND2
ECgene alternative splicing isoforms for
CCND2

Expression for CCND2 Gene

mRNA expression in normal human tissues for CCND2 Gene

Protein differential expression in normal tissues from HIPED for CCND2 Gene

This gene is overexpressed in Fetal testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CCND2 Gene



Protein tissue co-expression partners for CCND2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CCND2 Gene:

CCND2

SOURCE GeneReport for Unigene cluster for CCND2 Gene:

Hs.376071
genes like me logo Genes that share expression patterns with CCND2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCND2 Gene

Orthologs for CCND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCND2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCND2 34 35
  • 99.88 (n)
dog
(Canis familiaris)
Mammalia CCND2 34 35
  • 90.08 (n)
mouse
(Mus musculus)
Mammalia Ccnd2 34 16 35
  • 89.47 (n)
cow
(Bos Taurus)
Mammalia CCND2 34 35
  • 89.27 (n)
rat
(Rattus norvegicus)
Mammalia Ccnd2 34
  • 88.54 (n)
oppossum
(Monodelphis domestica)
Mammalia CCND2 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCND2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCND2 34 35
  • 79.12 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ccnd2 34
  • 77.28 (n)
Str.16674 34
African clawed frog
(Xenopus laevis)
Amphibia ccnd2-A 34
zebrafish
(Danio rerio)
Actinopterygii ccnd2a 34 35
  • 70.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CycD 36 34 35
  • 55.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
Species where no ortholog for CCND2 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)
  • lizard (Anolis carolinensis)
  • 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 CCND2 Gene

ENSEMBL:
Gene Tree for CCND2 (if available)
TreeFam:
Gene Tree for CCND2 (if available)

Paralogs for CCND2 Gene

Paralogs for CCND2 Gene

(2) SIMAP similar genes for CCND2 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for CCND2 Gene

genes like me logo Genes that share paralogs with CCND2: view

Variants for CCND2 Gene

Sequence variations from dbSNP and Humsavar for CCND2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs587777618 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938], Pathogenic 4,299,977(+) CCAGC(A/G)CCCCT reference, missense
rs587777620 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938], Pathogenic 4,299,978(+) CAGCA(A/C/T)CCCTA reference, missense
rs587777622 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938], Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938], Pathogenic 4,299,981(+) CACCC(C/G/T)TACAG reference, missense
VAR_072374 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]
rs587777619 Pathogenic 4,299,947(+) GATCC(A/T)AGTCG reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for CCND2 Gene

Variant ID Type Subtype PubMed ID
dgv1346n100 CNV gain 25217958
dgv260n67 CNV loss 20364138
esv2674492 CNV deletion 23128226
esv2745447 CNV deletion 23290073
esv275173 CNV gain+loss 21479260
esv275292 CNV loss 21479260
esv3548652 CNV deletion 23714750
esv3580372 CNV gain 25503493
esv3628356 CNV loss 21293372
esv3628357 CNV loss 21293372
nsv1040098 CNV gain 25217958
nsv437722 CNV loss 16327808
nsv468984 CNV loss 19166990
nsv483060 CNV loss 15286789
nsv557121 CNV loss 21841781
nsv832317 CNV gain 17160897

Variation tolerance for CCND2 Gene

Residual Variation Intolerance Score: 31.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.53; 11.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCND2 Gene

Human Gene Mutation Database (HGMD)
CCND2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCND2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCND2 Gene

Disorders for CCND2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for CCND2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
  • mpph3
mpph syndrome
  • megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome
megalencephaly
  • macroencephaly
polymicrogyria
  • pmg
hydrocephalus
  • hydrocephalus, nonsyndromic, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search CCND2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CCND2_HUMAN
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3) [MIM:615938]: A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome. {ECO:0000269 PubMed:24705253}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CCND2

Genetic Association Database (GAD)
CCND2
Human Genome Epidemiology (HuGE) Navigator
CCND2
Tumor Gene Database (TGDB):
CCND2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCND2
genes like me logo Genes that share disorders with CCND2: view

No data available for Genatlas for CCND2 Gene

Publications for CCND2 Gene

  1. Human and mouse cyclin D2 splice variants: transforming activity and subcellular localization. (PMID: 17873913) Denicourt C. … Rassart E. (Oncogene 2008) 3 4 22 64
  2. Cyclins D1 and D2 are differentially expressed in human B-lymphoid cell lines. (PMID: 8455931) Palmero I. … Peters G. (Oncogene 1993) 3 4 22 64
  3. Genomic organization, chromosomal localization, and independent expression of human cyclin D genes. (PMID: 1386335) Inaba T. … Look A.T. (Genomics 1992) 2 3 4 64
  4. Molecular cloning and chromosomal mapping of CCND genes encoding human D-type cyclins. (PMID: 1386336) Xiong Y. … Ward D.C. (Genomics 1992) 3 4 22 64
  5. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. (PMID: 24705253) Mirzaa G.M. … Sheridan E.G. (Nat. Genet. 2014) 3 4 64

Products for CCND2 Gene

Sources for CCND2 Gene

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