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CCND2 cyclin D2 [ Homo sapiens (human) ]

Gene ID: 894, updated on 16-Feb-2020

Summary

Official Symbol
CCND2provided by HGNC
Official Full Name
cyclin D2provided by HGNC
Primary source
HGNC:HGNC:1583
See related
Ensembl:ENSG00000118971 MIM:123833
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

Genomic context

See CCND2 in Genome Data Viewer
Location:
12p13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (4273762..4305353)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (4382901..4414522)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr12.200 Neighboring gene uncharacterized LOC105369612 Neighboring gene CCND2 antisense RNA 1 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

NHGRI GWAS Catalog

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

Homology

Clone Names

  • MGC102758

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclin-dependent protein serine/threonine kinase regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cyclin-dependent protein kinase holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclin-dependent protein kinase holoenzyme complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_034254.1 RefSeqGene

    Range
    5001..36621
    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
    P30279
    Related
    ENSP00000261254.3, ENST00000261254.8
    Conserved Domains (2) summary
    pfam00134
    Location:26152
    Cyclin_N; Cyclin, N-terminal domain
    pfam02984
    Location:154257
    Cyclin_C; Cyclin, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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