Gene Gene information from NCBI Gene database.
Entrez ID 595
Gene name Cyclin D1
Gene symbol CCND1
Synonyms (NCBI Gene)
BCL1D11S287EPRAD1U21B31
Chromosome 11
Chromosome location 11q13.3
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 throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhi
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs9344 G>A Risk-factor Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
3281
miRTarBase ID miRNA Experiments Reference
MIRT001225 hsa-miR-16-5p Western blot 18483394
MIRT001227 hsa-miR-15a-5p qRT-PCRLuciferase reporter assayWestern blot 19591824
MIRT001227 hsa-miR-15a-5p qRT-PCRLuciferase reporter assayWestern blot 19591824
MIRT001225 hsa-miR-16-5p qRT-PCRLuciferase reporter assayWestern blot 19591824
MIRT001225 hsa-miR-16-5p qRT-PCRLuciferase reporter assayWestern blot 19591824
Transcription factors Transcription factors information provided by TRRUST V2 database.
82
Transcription factor Regulation Reference
AHR Unknown 24380854
ATF2 Activation 10464245;10915780
BHLHE41 Repression 18223678
BRCA1 Unknown 12032322
BTG2 Repression 15870875;16849553
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
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 19412162, 33854232, 33854235, 33854239
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
168461 1582 ENSG00000110092
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P24385
Protein name G1/S-specific cyclin-D1 (B-cell lymphoma 1 protein) (BCL-1) (BCL-1 oncogene) (PRAD1 oncogene)
Protein function Regulatory component of the cyclin D1-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:1827756, PubMed:1833066, PubMe
PDB 2W96 , 2W99 , 2W9F , 2W9Z , 5VZU , 6P8E , 6P8F , 6P8G , 6P8H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00134 Cyclin_N 26 153 Cyclin, N-terminal domain Domain
PF02984 Cyclin_C 155 282 Cyclin, C-terminal domain Domain
Sequence
Sequence length 295
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
64
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BOWEN'S DISEASE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Achondroplasia Achondroplasia BEFREE 19802676
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia Pubtator 19802676 Stimulate
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 17684142, 17704717, 17989580, 20600642, 26165351
★☆☆☆☆
Found in Text Mining only
ACTH-Secreting Pituitary Adenoma Pituitary adenoma BEFREE 20616110, 30474823
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 16522546
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10216470, 12537975, 12972956, 16207592, 16522546, 18032022, 23613410, 27050122, 9355972
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia BEFREE 17213025
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10371338, 10419705, 10680670, 10944553, 12209953, 14581353, 14592662, 15378768, 15993030, 16163549, 17922974, 19706803, 21390188, 21400612, 2170896
View all (13 more)
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12209953, 12606305, 16815198, 17600882, 19047108
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 26432044
★☆☆☆☆
Found in Text Mining only