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

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: mouse all
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Genomic context

Location:: 7q21.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (92604921..92836573, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (93846868..94078562, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (92234235..92465887, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deregulation of the p19/CDK4/CDK6 axis in Jak2[V617F] megakaryocytes accelerates the development of myelofibrosis.
Title: Deregulation of the p19/CDK4/CDK6 axis in Jak2(V617F) megakaryocytes accelerates the development of myelofibrosis.
Long noncoding RNA LINC00675 drives malignancy in acute myeloid leukemia via the miR-6809 -CDK6 axis.
Title: Long noncoding RNA LINC00675 drives malignancy in acute myeloid leukemia via the miR-6809 -CDK6 axis.
DNA damage induced by CDK4 and CDK6 blockade triggers anti-tumor immune responses through cGAS-STING pathway.
Title: DNA damage induced by CDK4 and CDK6 blockade triggers anti-tumor immune responses through cGAS-STING pathway.
CDK6 is a novel predictive and prognosis biomarker correlated with immune infiltrates in multiple human neoplasms, including small cell lung carcinoma.
Title: CDK6 is a novel predictive and prognosis biomarker correlated with immune infiltrates in multiple human neoplasms, including small cell lung carcinoma.
Long non-coding RNA H19 promotes proliferation in hepatocellular carcinoma cells via H19/miR-107/CDK6 axis.
Title: Long non-coding RNA H19 promotes proliferation in hepatocellular carcinoma cells via H19/miR-107/CDK6 axis.
FOXM1, MEK, and CDK4/6: New Targets for Malignant Peripheral Nerve Sheath Tumor Therapy.
Title: FOXM1, MEK, and CDK4/6: New Targets for Malignant Peripheral Nerve Sheath Tumor Therapy.
METTL9 derived circular RNA circ-METTL9 sponges miR-551b-5p to accelerate colorectal cancer progression by upregulating CDK6.
Title: METTL9 derived circular RNA circ-METTL9 sponges miR-551b-5p to accelerate colorectal cancer progression by upregulating CDK6.
CDK6 is activated by the atypical cyclin I to promote E2F-mediated gene expression and cancer cell proliferation.
Title: CDK6 is activated by the atypical cyclin I to promote E2F-mediated gene expression and cancer cell proliferation.
Prognostic significance of CDK6 amplification in esophageal squamous cell carcinoma.
Title: Prognostic significance of CDK6 amplification in esophageal squamous cell carcinoma.
CDK6 activity in a recurring convergent kinase network motif.
Title: CDK6 activity in a recurring convergent kinase network motif.

Submit: New GeneRIF Correction See all GeneRIFs (281)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 20 loci that influence adult height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of ten loci associated with height highlights new biological pathways in human growth. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G36999 (e-PCR)
- UniSTS:4611

G36996 (e-PCR)
- UniSTS:41995

HSC249 (e-PCR)
- UniSTS:261899

SHGC-34899 (e-PCR)
- UniSTS:49681

STS-X66365 (e-PCR)
- UniSTS:50210

G32969 (e-PCR)
- UniSTS:117546

G36998 (e-PCR)
- UniSTS:30774

RH104316 (e-PCR)
- UniSTS:98641

G37001 (e-PCR)
- UniSTS:39260

A009Y04 (e-PCR)
- UniSTS:11359

G37000 (e-PCR)
- UniSTS:5475

RH104334 (e-PCR)
- UniSTS:98659

G42163 (e-PCR)
- UniSTS:93292

RH15849 (e-PCR)
- UniSTS:6509

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-33519 (e-PCR)
- UniSTS:5006

SHGC-35227 (e-PCR)
- UniSTS:49054

CDK6_2114 (e-PCR)
- UniSTS:280493

G49245 (e-PCR)
- UniSTS:109001

G49156 (e-PCR)
- UniSTS:96211

RH17944 (e-PCR)
- UniSTS:11220

RH66680 (e-PCR)
- UniSTS:7896

RH79066 (e-PCR)
- UniSTS:29413

G49183 (e-PCR)
- UniSTS:96237

HSC197 (e-PCR)
- UniSTS:255215

CDK6 (e-PCR)
- UniSTS:34801

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	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	IBA Inferred from Biological aspect of Ancestor 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 organic substance	IBA Inferred from Biological aspect of Ancestor 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 D2-CDK6 complex	IEA Inferred from Electronic Annotation more info
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

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Preferred Names: cyclin-dependent kinase 6

Names: cell division protein kinase 6; serine/threonine-protein kinase PLSTIRE

NP_001138778.1

EC 2.7.11.22

NP_001250.1

EC 2.7.11.22

XP_047275672.1

EC 2.7.11.22

NCBI Reference Sequences (RefSeq)

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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

NG_015888.1 RefSeqGene

Range

5001..236707

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_991

mRNA and Protein(s)

NM_001145306.2 → NP_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:11 → 300

STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6
NM_001259.8 → NP_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:11 → 300

STKc_CDK6; Catalytic domain of the Serine/Threonine Kinase, Cyclin-Dependent protein Kinase 6