Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
894
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin D2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCND2
Synonyms (NCBI Gene) Gene synonyms aliases
KIAK0002, MPPH3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.32
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777618 A>G Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs587777619 A>T Pathogenic Coding sequence variant, stop gained
rs587777620 C>A,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs587777621 C>G,T Pathogenic Coding sequence variant, missense variant
rs587777622 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000285 hsa-miR-15a-5p Luciferase reporter assay 19549910
MIRT000285 hsa-miR-15a-5p Luciferase reporter assay 19549910
MIRT003555 hsa-miR-302b-3p Luciferase reporter assay, Western blot 18930031
MIRT003555 hsa-miR-302b-3p Luciferase reporter assay, Western blot 18930031
MIRT003431 hsa-miR-16-5p Review 20130964
Transcription factors
Transcription factor Regulation Reference
ABL1 Activation 15509806
BCL6 Repression 15509806;22723377
EGR1 Unknown 20590664
ETV4 Activation 9339900
FOXL2 Repression 21862621
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IBA
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 8114739, 19237565
GO:0000082 Process G1/S transition of mitotic cell cycle IDA 18827403
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle NAS 7603984
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123833 1583 ENSG00000118971
Protein
UniProt ID P30279
Protein name G1/S-specific cyclin-D2
Protein 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 (PubMed:18827403, PubMed:8114739). Pho
PDB 6EI2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00134 Cyclin_N 25 152 Cyclin, N-terminal domain Domain
PF02984 Cyclin_C 154 282 Cyclin, C-terminal domain Domain
Sequence
Sequence length 289
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  FoxO signaling pathway
Cell cycle
p53 signaling pathway
PI3K-Akt signaling pathway
Cellular senescence
Wnt signaling pathway
Hedgehog signaling pathway
Hippo signaling pathway
Focal adhesion
JAK-STAT signaling pathway
Prolactin signaling pathway
Measles
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Epstein-Barr virus infection
Pathways in cancer
Transcriptional misregulation in cancer
Viral carcinogenesis
MicroRNAs in cancer
  Cyclin D associated events in G1
Regulation of RUNX1 Expression and Activity
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 rs587777618, rs587777619, rs587777620, rs587777621, rs587777622 N/A
seizure Seizure rs587777620 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes (PheCode 250.2), Diabetes, Type 2 diabetes (adjusted for BMI), Type 2 diabetes, Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23) N/A N/A GWAS
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 19945765, 25716200
Adenocarcinoma of Lung Associate 30308939, 31432162, 34301211, 35866595
Adenomatous Polyposis Coli Associate 32170005
Adrenal Insufficiency Stimulate 31705051
Adrenocortical Carcinoma Associate 25078331
Angiomyoma Associate 37013521
Arthritis Rheumatoid Associate 21676922
Astrocytoma Associate 21059263
Ataxia Telangiectasia Stimulate 26261659
Biliary Tract Neoplasms Associate 18995218