CDK6 (Cyclin Dependent Kinase 6)
A key regulator of the cell cycle and a therapeutic target in cancer
Gene Information Card
| Symbol | CDK6 |
|---|---|
| Full Name | Cyclin Dependent Kinase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.2 |
| NCBI Gene ID | 1021 ncbi.nlm.nih.gov/gene/1021 |
| Ensembl ID | ENSG00000105810 |
| UniProt ID | Q00534 |
| OMIM ID | 603368 |
| HGNC ID | 1777 |
| Aliases | PLSTIRE, MCPH12 |
Description
CDK6 encodes a serine/threonine protein kinase that forms complexes with cyclins D1, D2, and D3. These complexes phosphorylate the retinoblastoma protein (RB1) to promote G1/S cell cycle transition. CDK6 also regulates transcription, differentiation, and angiogenesis. It is frequently amplified, overexpressed, or mutated in various cancers, making it a target for CDK4/6 inhibitors such as palbociclib, ribociclib, and abemaciclib.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer (hormone receptor-positive) | CDK6 amplification/overexpression drives RB1 phosphorylation and cell cycle progression | ClinVar, COSMIC |
| Glioblastoma | CDK6 amplification (focal or low-level) promotes tumor proliferation | COSMIC, NCBI |
| Hematologic malignancies (e.g., acute lymphoblastic leukemia, mantle cell lymphoma) | CDK6 rearrangements or overexpression contribute to leukemogenesis | COSMIC, ClinVar |
| Microcephaly, primary autosomal recessive 12 (MCPH12) | Biallelic loss-of-function mutations in CDK6 impair neural progenitor cell proliferation | OMIM #603368 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 8.2 | Medium |
| Spleen | 7.1 | Medium |
| Brain | 3.4 | Low |
| Breast | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| MCF7 (breast cancer) | 9.8 | Medium expression |
| U-87 MG (glioblastoma) | 11.2 | High expression |
| HEK 293 (embryonic kidney) | 6.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.928C>T (p.Arg310*) | Nonsense | Rare | Loss of function; associated with MCPH12 |
| c.1045G>A (p.Glu349Lys) | Missense | Rare | Unknown significance; reported in cancer |
| Amplification (7q21.2) | Copy number gain | Frequent in glioblastoma and breast cancer | Gain of function; drives oncogenesis |
Mutation functional classification
Loss of Function (LOF)
Biallelic nonsense or frameshift mutations (e.g., p.Arg310*) cause loss of kinase activity, leading to microcephaly (MCPH12).
Gain of Function (GOF)
Gene amplification or overexpression increases CDK6 activity, promoting cell cycle progression and tumor growth.
Dominant Negative (DN)
Not well documented for CDK6; most reported mutations are loss-of-function or amplification.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004693~cyclin-dependent protein serine/threonine kinase activity | • GO:0005515~protein binding |
| • GO:0005634~nucleus | • GO:0005737~cytoplasm |
| • GO:0007049~cell cycle | • GO:0051301~cell division |
| • GO:0008283~cell population proliferation | • GO:0045944~positive regulation of transcription by RNA polymerase II |
Pathways
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• PI3K-Akt signaling pathway (KEGG hsa04151)
• FoxO signaling pathway (KEGG hsa04068)
• Cellular Senescence (KEGG hsa04218)
Protein Summary
CDK6 is a 326-amino-acid serine/threonine kinase (UniProt Q00534) with an N-terminal catalytic domain and a C-terminal regulatory region. It forms active complexes with D-type cyclins to phosphorylate RB1, releasing E2F transcription factors that drive S-phase entry. CDK6 also has kinase-independent roles in transcription and angiogenesis. Its structure includes a PSTAIRE-like cyclin-binding motif (PLSTIRE).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK6 Knockout HEK293 Cell Line | EDC07865 | Human | 1021 | Details Get a Quote |
| CDK6 Knockout HeLa Cell Line | EDJ-KQ18348 | Human | 1021 | Details Get a Quote |
| CDK6 Knockout HCT 116 Cell Line | EDJ-KQ19459 | Human | 1021 | Details Get a Quote |
| CDK6 Knockout A-549 Cell Line | EDJ-KQ61332 | Human | 1021 | Details Get a Quote |
| CDK6 Knock-in HEK293 Cell Line | EDC90429 | Human | 1021 | Details Get a Quote |
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