Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1021
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDK6
Synonyms (NCBI Gene) Gene synonyms aliases
MCPH12, PLSTIRE
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs606231255 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
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 assay, Western blot 18607543
MIRT002642 hsa-miR-124-3p Luciferase reporter assay, Western blot 18607543
Transcription factors
Transcription factor Regulation Reference
AR Unknown 15790678
MYC Activation 22395148
NANOG Repression 17761754
NANOG Unknown 19139263
NFKB2 Activation 18504428
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
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603368 1777 ENSG00000105810
Protein
UniProt ID 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
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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
Microcephaly microcephaly 12, primary, autosomal recessive rs606231255 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
Diabetes Type 2 diabetes N/A N/A GWAS
Heart Failure Heart failure N/A N/A GWAS
Hypertension Hypertension, Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Associations from Text Mining Disease 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