U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    CDK6 cyclin dependent kinase 6 [ Homo sapiens (human) ]

    Gene ID: 1021, updated on 2-Nov-2024

    Summary

    Official Symbol
    CDK6provided by HGNC
    Official Full Name
    cyclin dependent kinase 6provided by HGNC
    Primary source
    HGNC:HGNC:1777
    See related
    Ensembl:ENSG00000105810 MIM:603368; AllianceGenome:HGNC:1777
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCPH12; PLSTIRE
    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 of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in placenta (RPKM 9.3), bone marrow (RPKM 7.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDK6 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92604921..92836573, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93846868..94078562, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92234235..92465887, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26264 Neighboring gene uncharacterized LOC105375397 Neighboring gene family with sequence similarity 133 member B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18373 Neighboring gene Sharpr-MPRA regulatory region 6214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26266 Neighboring gene uncharacterized LOC112268009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26268 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:92324714-92325913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26270 Neighboring gene NANOG hESC enhancer GRCh37_chr7:92353193-92353749 Neighboring gene RNA, U6 small nuclear 10, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26271 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26272 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:92393426-92394053 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:92397855-92398394 Neighboring gene MPRA-validated peak6637 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26273 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:92462135-92462635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18376 Neighboring gene CDK6 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3172 Neighboring gene RNA, 7SL, cytoplasmic 7, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:92651586-92652785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92657799-92658383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92668331-92668846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:92669879-92670393 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:92673175-92673906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26278 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:92737283-92738482 Neighboring gene sterile alpha motif domain containing 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microcephaly 12, primary, autosomal recessive
    MedGen: C4015156 OMIM: 616080 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 20 loci that influence adult height.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    EBI GWAS Catalog
    Identification of ten loci associated with height highlights new biological pathways in human growth.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CDK6 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat downregulates the abundance of cyclin-dependent kinase 6 (CDK6) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC59692

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables FBXO family protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cyclin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cyclin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables cyclin-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in G1/S transition of mitotic cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in astrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in cell dedifferentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dentate gyrus development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in generation of neurons ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in gliogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lateral ventricle development ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cellular senescence IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of monocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of myeloid cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of G2/M transition of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of gene expression IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of hematopoietic stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cyclin D1-CDK6 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of cyclin D2-CDK6 complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of cyclin D3-CDK6 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of cyclin-dependent protein kinase holoenzyme complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cyclin-dependent protein kinase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cyclin-dependent kinase 6
    Names
    cell division protein kinase 6
    serine/threonine-protein kinase PLSTIRE
    NP_001138778.1
    NP_001250.1
    XP_047275672.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015888.1 RefSeqGene

      Range
      5001..236707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_991

    mRNA and Protein(s)

    1. NM_001145306.2NP_001138778.1  cyclin-dependent kinase 6

      See identical proteins and their annotated locations for NP_001138778.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript.
      Source sequence(s)
      AC000065, AC005156, AK313491, AW665776, BC027989, BC052264, BQ773638
      Consensus CDS
      CCDS5628.1
      UniProtKB/Swiss-Prot
      A4D1G0, Q00534
      Related
      ENSP00000397087.3, ENST00000424848.3
      Conserved Domains (1) summary
      cd07862
      Location:11300
      STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6
    2. NM_001259.8NP_001250.1  cyclin-dependent kinase 6

      See identical proteins and their annotated locations for NP_001250.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2.
      Source sequence(s)
      AC000065, AC004011, AC005156, AI738486, BC027989, BC052264, BQ773638
      Consensus CDS
      CCDS5628.1
      UniProtKB/Swiss-Prot
      A4D1G0, Q00534
      Related
      ENSP00000265734.4, ENST00000265734.8
      Conserved Domains (1) summary
      cd07862
      Location:11300
      STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      92604921..92836573 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419716.1XP_047275672.1  cyclin-dependent kinase 6 isoform X1

      UniProtKB/Swiss-Prot
      A4D1G0, Q00534

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      93846868..94078562 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)