Gene Gene information from NCBI Gene database.
Entrez ID 1021
Gene name Cyclin dependent kinase 6
Gene symbol CDK6
Synonyms (NCBI Gene)
MCPH12PLSTIRE
Chromosome 7
Chromosome location 7q21.2
Summary The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity o
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs606231255 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1888
miRTarBase ID miRNA Experiments Reference
MIRT001233 hsa-miR-107 Western blot 19407485
MIRT001233 hsa-miR-107 Western blot 19407485
MIRT001233 hsa-miR-107 Western blot 19407485
MIRT002642 hsa-miR-124-3p Luciferase reporter assayWestern blot 18607543
MIRT002642 hsa-miR-124-3p Luciferase reporter assayWestern blot 18607543
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
AR Unknown 15790678
MYC Activation 22395148
NANOG Repression 17761754
NANOG Unknown 19139263
NFKB2 Activation 18504428
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82
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
GO:0000082 Process G1/S transition of mitotic cell cycle IEA
GO:0000082 Process G1/S transition of mitotic cell cycle NAS 8114739
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 16294322
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603368 1777 ENSG00000105810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00534
Protein name Cyclin-dependent kinase 6 (EC 2.7.11.22) (Cell division protein kinase 6) (Serine/threonine-protein kinase PLSTIRE)
Protein function Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and contr
PDB 1BI7 , 1BI8 , 1BLX , 1G3N , 1JOW , 1XO2 , 2EUF , 2F2C , 3NUP , 3NUX , 4AUA , 4EZ5 , 4TTH , 5L2I , 5L2S , 5L2T , 6OQL , 6OQO , 8I0M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 13 300 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed ubiquitously. Accumulates in squamous cell carcinomas, proliferating hematopoietic progenitor cells, beta-cells of pancreatic islets of Langerhans, and neuroblastomas. Reduced levels in differentiating cells. {ECO:0000269|Pub
Sequence
Sequence length 326
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
p53 signaling pathway
PI3K-Akt signaling pathway
Cellular senescence
Cushing syndrome
Hepatitis C
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Epstein-Barr virus infection
Pathways in cancer
Viral carcinogenesis
MicroRNAs in cancer
Pancreatic cancer
Glioma
Melanoma
Chronic myeloid leukemia
Small cell lung cancer
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
  Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
Cyclin D associated events in G1
Regulation of RUNX1 Expression and Activity
Evasion of Oncogene Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
Evasion of Oxidative Stress Induced Senescence Due to Defective p16INK4A binding to CDK4 and CDK6
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly 12, primary, autosomal recessive Pathogenic rs606231255 RCV000144853
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Behcet disease association rs2282983, rs42034 RCV002241580
RCV002241391
CDK6-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs140409009, rs35654944, rs34257565 RCV003907678
RCV003915367
RCV003913247
Lung cancer Benign; Likely benign rs140409009 RCV005892269
Thymoma Uncertain significance rs369229292 RCV005930947
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 21593195, 22450065, 30718927, 34152098, 35167417
Adenocarcinoma of Lung Associate 23792647, 32091408, 36040373, 37061713
Adenomatous Polyposis Coli Associate 34370741
Adrenocortical Carcinoma Associate 29283884, 30413320, 35462410
Appendiceal Neoplasms Associate 31784493
Arthritis Rheumatoid Associate 19644859, 21676922, 25138370, 34910834
Ascites Associate 35062876
Aspartylglucosaminuria Associate 31854063
Astrocytoma Associate 37667984
Ataxia Telangiectasia Associate 9422538