Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CDK6 (cyclin dependent kinase 6)

Identity

Alias (NCBI)MCPH12
PLSTIRE
HGNC (Hugo) CDK6
HGNC Alias symbPLSTIRE
LocusID (NCBI) 1021
Atlas_Id 321
Location 7q21.2  [Link to chromosome band 7q21]
Location_base_pair Starts at 92604921 and ends at 92833959 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AHCYL1 (1p13.3)::CDK6 (7q21.2)BICD1 (12p11.21)::CDK6 (7q21.2)CDK6 (7q21.2)::ACHE (7q22.1)
CDK6 (7q21.2)::CDK6 (7q21.2)CDK6 (7q21.2)::HEPACAM2 (7q21.3)CDK6 (7q21.2)::KLC1 (14q32.33)
CDK6 (7q21.2)::KMT2A (11q23.3)CDK6 (7q21.2)::KMT2AT10 ()CDK6 (7q21.2)::MECOM (3q26.2)
CDK6 (7q21.2)::MLLT10 (10p12.31)CDK6 (7q21.2)::SEMA4F (2p13.1)CDK6 (7q21.2)::SLC25A13 (7q21.3)
CDK6 (7q21.2)::SLC25A25 (9q34.11)CDK6 (7q21.2)::STXBP6 (14q12)CDK6 (7q21.2)::TLX3 (5q35.1)
FAM133B (7q21.2)::CDK6 (7q21.2)HOXA11-AS (7p15.2)::CDK6 (7q21.2)IGH (14q32.33)::CDK6 (7q21.2)
IGHG1 (14q32.33)::CDK6 (7q21.2)IGK (14q32.33)::CDK6 (7q21.2)IGL (22q11.22)::CDK6 (7q21.2)
IGLV3-10 ()::CDK6 (7q21.2)KMT2A (11q23.3)::CDK6 (7q21.2)MECOM (3q26.2)::CDK6 (7q21.2)
MLLT10 (10p12.31)::CDK6 (7q21.2)RBM6 (3p21.31)::CDK6 (7q21.2)BICD1 12p11.21::CDK6 7q21.2
CDK6 7q21.2::HEPACAM2 7q21.3CDK6 7q21.2::STXBP6 14q12FAM133B 7q21.2::CDK6 7q21.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 17 ]
  Burkitt's lymphoma (BL)
del(7q) in non-Hodgkin's lymphoma (NHL)
del(9p) in Acute Lymphoblastic Leukemia
Splenic lymphoma with villous lymphocytes (SLVL) in 2005
t(3;7)(q26;q21) MECOM::CDK6
t(3;7)(q26;q21) CDK6::MECOM
t(5;7)(q35;q21) TLX3::CDK6
t(6;14)(p21;q32) IGH::CCND3
t(7;14)(q21;q32) ERVW-1::IgH
t(2;7)(p11;q21) IGK::CDK6::t(7;14)(q21;q32) IGH::CDK6::t(7;22)(q21;q11) IGL::CDK6::t(7;14)(q21;q11) TRA::CDK6
t(2;12)(p12;p13) IGK::CCND2::t(12;14)(p13;q32) IGH::CCND2::t(12;22)(p13;q11) IGL::CCND2
T-lineage acute lymphoblastic leukemia (T-ALL)
t(7;7)(p15;q21) CDK6::RPL35P4
t(7;7)(p15;q21) HOXA11-AS::CDK6
t(7;7)(q21;q21) FAM133B::CDK6
t(7;11)(q21;q23) CDK6::KMT2A
t(7;14)(q21;q13) CDK6::NKX2-1

External links

 

Nomenclature
HGNC (Hugo)CDK6   1777
LRG (Locus Reference Genomic)LRG_991
Cards
Entrez_Gene (NCBI)CDK6    cyclin dependent kinase 6
AliasesMCPH12; PLSTIRE
GeneCards (Weizmann)CDK6
Ensembl hg19 (Hinxton)ENSG00000105810 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105810 [Gene_View]  ENSG00000105810 [Sequence]  chr7:92604921-92833959 [Contig_View]  CDK6 [Vega]
ICGC DataPortalENSG00000105810
TCGA cBioPortalCDK6
AceView (NCBI)CDK6
Genatlas (Paris)CDK6
SOURCE (Princeton)CDK6
Genetics Home Reference (NIH)CDK6
Genomic and cartography
GoldenPath hg38 (UCSC)CDK6  -     chr7:92604921-92833959 -  7q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDK6  -     7q21.2   [Description]    (hg19-Feb_2009)
GoldenPathCDK6 - 7q21.2 [CytoView hg19]  CDK6 - 7q21.2 [CytoView hg38]
ImmunoBaseENSG00000105810
Genome Data Viewer NCBICDK6 [Mapview hg19]  
OMIM603368   616080   
Gene and transcription
Genbank (Entrez)AA312213 AB073601 AI023175 AI367890 AI400582
RefSeq transcript (Entrez)NM_001145306 NM_001259
Consensus coding sequences : CCDS (NCBI)CDK6
Gene ExpressionCDK6 [ NCBI-GEO ]   CDK6 [ EBI - ARRAY_EXPRESS ]   CDK6 [ SEEK ]   CDK6 [ MEM ]
Gene Expression Viewer (FireBrowse)CDK6 [ Firebrowse - Broad ]
GenevisibleExpression of CDK6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1021
GTEX Portal (Tissue expression)CDK6
Human Protein AtlasENSG00000105810-CDK6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00534   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00534  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00534
Catalytic activity : Enzyme2.7.11.22 [ Enzyme-Expasy ]   2.7.11.222.7.11.22 [ IntEnz-EBI ]   2.7.11.22 [ BRENDA ]   2.7.11.22 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ00534
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)CDK6    Kinase-like_dom_sf    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)CDK6
PDB (RSDB)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
PDB Europe1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
PDB (PDBSum)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
PDB (IMB)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
Structural Biology KnowledgeBase1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
SCOP (Structural Classification of Proteins)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
CATH (Classification of proteins structures)1BI7    1BI8    1BLX    1G3N    1JOW    1XO2    2EUF    2F2C    3NUP    3NUX    4AUA    4EZ5    4TTH    5L2I    5L2S    5L2T    6OQL    6OQO   
SuperfamilyQ00534
AlphaFold pdb e-kbQ00534   
Human Protein Atlas [tissue]ENSG00000105810-CDK6 [tissue]
HPRD04533
Protein Interaction databases
DIP (DOE-UCLA)Q00534
IntAct (EBI)Q00534
BioGRIDCDK6
STRING (EMBL)CDK6
ZODIACCDK6
Ontologies - Pathways
QuickGOQ00534
Ontology : AmiGOG1/S transition of mitotic cell cycle  negative regulation of transcription by RNA polymerase II  cyclin-dependent protein kinase holoenzyme complex  ruffle  positive regulation of cell-matrix adhesion  type B pancreatic cell development  cyclin-dependent protein serine/threonine kinase activity  cyclin-dependent protein serine/threonine kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  protein phosphorylation  protein phosphorylation  Notch signaling pathway  negative regulation of cell population proliferation  RNA polymerase II CTD heptapeptide repeat kinase activity  response to virus  regulation of gene expression  regulation of gene expression  positive regulation of gene expression  astrocyte development  mediator complex  dentate gyrus development  lateral ventricle development  cyclin binding  T cell differentiation in thymus  gliogenesis  cell dedifferentiation  negative regulation of cell differentiation  negative regulation of myeloid cell differentiation  regulation of erythrocyte differentiation  negative regulation of monocyte differentiation  negative regulation of osteoblast differentiation  negative regulation of cell cycle  positive regulation of fibroblast proliferation  generation of neurons  negative regulation of epithelial cell proliferation  cell division  regulation of cell cycle  regulation of cell cycle  hematopoietic stem cell differentiation  cyclin D2-CDK6 complex  FBXO family protein binding  protein serine kinase activity  regulation of hematopoietic stem cell differentiation  regulation of cell motility  negative regulation of cellular senescence  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  negative regulation of transcription by RNA polymerase II  cyclin-dependent protein kinase holoenzyme complex  ruffle  positive regulation of cell-matrix adhesion  type B pancreatic cell development  cyclin-dependent protein serine/threonine kinase activity  cyclin-dependent protein serine/threonine kinase activity  protein serine/threonine/tyrosine kinase activity  protein binding  ATP binding  nucleus  nucleus  nucleoplasm  nucleoplasm  cytoplasm  centrosome  cytosol  cytosol  protein phosphorylation  protein phosphorylation  Notch signaling pathway  negative regulation of cell population proliferation  RNA polymerase II CTD heptapeptide repeat kinase activity  response to virus  regulation of gene expression  regulation of gene expression  positive regulation of gene expression  astrocyte development  mediator complex  dentate gyrus development  lateral ventricle development  cyclin binding  T cell differentiation in thymus  gliogenesis  cell dedifferentiation  negative regulation of cell differentiation  negative regulation of myeloid cell differentiation  regulation of erythrocyte differentiation  negative regulation of monocyte differentiation  negative regulation of osteoblast differentiation  negative regulation of cell cycle  positive regulation of fibroblast proliferation  generation of neurons  negative regulation of epithelial cell proliferation  cell division  regulation of cell cycle  regulation of cell cycle  hematopoietic stem cell differentiation  cyclin D2-CDK6 complex  FBXO family protein binding  protein serine kinase activity  regulation of hematopoietic stem cell differentiation  regulation of cell motility  negative regulation of cellular senescence  
Pathways : BIOCARTABIOCARTA_EFPPATHWAY    BIOCARTA_G1PATHWAY    BIOCARTA_CELLCYCLEPATHWAY    BIOCARTA_RACCYCDPATHWAY   
Pathways : KEGGKEGG_CELL_CYCLE    KEGG_P53_SIGNALING    KEGG_PATHWAYS_IN_CANCER    KEGG_PANCREATIC_CANCER    KEGG_GLIOMA    KEGG_MELANOMA    KEGG_CHRONIC_MYELOID_LEUKEMIA    KEGG_SMALL_CELL_LUNG_CANCER    KEGG_NON_SMALL_CELL_LUNG_CANCER   
NDEx NetworkCDK6
Atlas of Cancer Signalling NetworkCDK6
Wikipedia pathwaysCDK6
Orthology - Evolution
OrthoDB1021
GeneTree (enSembl)ENSG00000105810
Phylogenetic Trees/Animal Genes : TreeFamCDK6
Homologs : HomoloGeneCDK6
Homology/Alignments : Family Browser (UCSC)CDK6
Gene fusions - Rearrangements
Fusion : MitelmanBICD1::CDK6 [12p11.21/7q21.2]  
Fusion : MitelmanCDK6::HEPACAM2 [7q21.2/7q21.3]  
Fusion : MitelmanCDK6::RPL35P4 [7q21.2/-]  
Fusion : MitelmanCDK6::STXBP6 [7q21.2/14q12]  
Fusion : MitelmanFAM133B::CDK6 [7q21.2/7q21.2]  
Fusion : MitelmanHOXA11-AS::CDK6 [7p15.2/7q21.2]  
Fusion : MitelmanIGH::CDK6 [14q32.33/7q21.2]  
Fusion : MitelmanIGK::CDK6 [2p11.2/7q21.2]  
Fusion : MitelmanIGL::CDK6 [22q11.22/7q21.2]  
Fusion : MitelmanMECOM::CDK6 [3q26.2/7q21.2]  
Fusion : QuiverCDK6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDK6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDK6
dbVarCDK6
ClinVarCDK6
MonarchCDK6
1000_GenomesCDK6 
Exome Variant ServerCDK6
GNOMAD BrowserENSG00000105810
Varsome BrowserCDK6
ACMGCDK6 variants
VarityQ00534
Genomic Variants (DGV)CDK6 [DGVbeta]
DECIPHERCDK6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDK6 
Mutations
ICGC Data PortalCDK6 
TCGA Data PortalCDK6 
Broad Tumor PortalCDK6
OASIS PortalCDK6 [ Somatic mutations - Copy number]
Cancer Gene: CensusCDK6 
Somatic Mutations in Cancer : COSMICCDK6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCDK6
Mutations and Diseases : HGMDCDK6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCDK6
DgiDB (Drug Gene Interaction Database)CDK6
DoCM (Curated mutations)CDK6
CIViC (Clinical Interpretations of Variants in Cancer)CDK6
Cancer3DCDK6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603368    616080   
Orphanet732   
DisGeNETCDK6
MedgenCDK6
Genetic Testing Registry CDK6
NextProtQ00534 [Medical]
GENETestsCDK6
Target ValidationCDK6
Huge Navigator CDK6 [HugePedia]
ClinGenCDK6
Clinical trials, drugs, therapy
MyCancerGenomeCDK6
Protein Interactions : CTDCDK6
Pharm GKB GenePA103
PharosQ00534
Drug Sensitivity CDK6
Clinical trialCDK6
Miscellaneous
canSAR (ICR)CDK6
HarmonizomeCDK6
ARCHS4CDK6
DataMed IndexCDK6
Probes
Litterature
PubMed413 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCDK6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:26:50 CET 2022
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