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Gene Gene information from NCBI Gene database.
Entrez ID 894
Gene name Cyclin D2
Gene symbol CCND2
Synonyms (NCBI Gene)
KIAK0002MPPH3
Chromosome 12
Chromosome location 12p13.32
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
SNPs SNP information provided by dbSNP.
6 Show/Hide all (6)
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.
1188 Show/Hide all (1188)
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 assayWestern blot 18930031
MIRT003555 hsa-miR-302b-3p Luciferase reporter assayWestern blot 18930031
MIRT003431 hsa-miR-16-5p Review 20130964
Transcription factors Transcription factors information provided by TRRUST V2 database.
26 Show/Hide all (26)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44 Show/Hide all (44)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123833 1583 ENSG00000118971
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Pathway Reactome Pathway
FoxO signaling pathway Cyclin D associated events in G1
Cell cycle Regulation of RUNX1 Expression and Activity
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Likely pathogenic; Pathogenic rs777786993 RCV003493877
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Pathogenic; Likely pathogenic rs587777618, rs587777619, rs587777620, rs587777621, rs587777622, rs776036883, rs1864225645 RCV000133495
RCV000133496
RCV000133497
RCV000133498
RCV000133500
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure Likely pathogenic; Pathogenic rs587777620 RCV001849314
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (39)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 40050429, 41022758
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMEGALY — CTD 15576649
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CCND2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (263)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11691826
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 27798625
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia CTD_human_DG 27798625
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12684418, 26466823, 31527584
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 23266556, 29917119, 30510241, 31089142
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 12684418
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
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★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25078331 Associate
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★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 11691826
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 17593082
★★★★★
★☆☆☆☆
Found in Text Mining only