Gene Gene information from NCBI Gene database.
Entrez ID 1019
Gene name Cyclin dependent kinase 4
Gene symbol CDK4
Synonyms (NCBI Gene)
CMM3PSK-J3
Chromosome 12
Chromosome location 12q14.1
Summary The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs11547328 G>A,T Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs104894340 C>A,T Risk-factor, likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs144890720 T>C Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
750
miRTarBase ID miRNA Experiments Reference
MIRT000765 hsa-miR-34c-5p ReviewLuciferase reporter assay 19461653
MIRT000764 hsa-miR-34b-5p ReviewLuciferase reporter assay 19461653
MIRT000763 hsa-miR-34a-5p ReviewLuciferase reporter assay 19461653
MIRT000763 hsa-miR-34a-5p ReviewLuciferase reporter assayWestern blotMicroarray 17914404
MIRT003636 hsa-miR-302a-3p Luciferase reporter assayqRT-PCRWestern blot 18710938
Transcription factors Transcription factors information provided by TRRUST V2 database.
14
Transcription factor Regulation Reference
ESR1 Unknown 22179484
IRF1 Repression 22200613
MYC Activation 22395148
MYC Unknown 10688915;21384303
NFKB1 Activation 18425349
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
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 19237565
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle IMP 7603984
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
123829 1773 ENSG00000135446
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11802
Protein name Cyclin-dependent kinase 4 (EC 2.7.11.22) (Cell division protein kinase 4) (PSK-J3)
Protein function Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociat
PDB 2W96 , 2W99 , 2W9F , 2W9Z , 3G33 , 5FWK , 5FWL , 5FWM , 5FWP , 6P8E , 6P8F , 6P8G , 6P8H , 7SJ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 6 295 Protein kinase domain Domain
Sequence
Sequence length 303
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
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
Familial melanoma Pathogenic rs11547328, rs104894340 RCV000168188
RCV001851913
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs1372968634 RCV003164624
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome Pathogenic rs11547328, rs104894340 RCV000584153
RCV001026151
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma, cutaneous malignant, susceptibility to, 3 Pathogenic rs11547328, rs104894340 RCV000018436
RCV000018437
★★★★☆
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
BRAIN NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN STEM NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
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
Actinic keratosis Actinic keratosis BEFREE 10498902
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24504520
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11301189, 29995568, 7630199, 9355972, 9827921
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 18172308, 29735403
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11299766, 29245989
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 14647414, 20651055, 23792647, 26418953, 27151654, 28364361, 31516564
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 14562378, 17072968, 29852762
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma LHGDN 17072968
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 20572039
★☆☆☆☆
Found in Text Mining only