CDK17: Cyclin Dependent Kinase 17
A PCTAIRE protein kinase involved in neuronal function and cell cycle regulation
Gene Information Card
| Symbol | CDK17 |
|---|---|
| Full Name | Cyclin Dependent Kinase 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.1 |
| NCBI Gene ID | 5128 ncbi.nlm.nih.gov/gene/5128 |
| Ensembl ID | ENSG00000159713 |
| UniProt ID | Q00537 |
| OMIM ID | 603440 |
| HGNC ID | 8751 |
| Aliases | PCTAIRE2, PCTK2 |
Description
CDK17 (Cyclin Dependent Kinase 17) encodes a member of the PCTAIRE subfamily of cyclin-dependent kinases. The protein is predominantly expressed in the brain and testis, and plays a role in neuronal differentiation, synaptic plasticity, and cell cycle regulation. CDK17 interacts with cyclin Y and phosphorylates substrates involved in vesicle trafficking and cytoskeletal dynamics. Mutations and altered expression have been implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Missense variants in CDK17 may disrupt kinase activity and neuronal signaling | ClinVar (SCV001422587) |
| Autism spectrum disorder | De novo variants identified in patients, suggesting role in neurodevelopment | ClinVar (SCV001422588) |
| Breast cancer | Overexpression of CDK17 associated with poor prognosis and cell proliferation | COSMIC (COSG6130) |
| Lung cancer | Somatic mutations and copy number alterations observed | COSMIC (COSG6130) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | High |
| Testis | 12.8 | High |
| Heart | 4.1 | Medium |
| Liver | 2.3 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.5 | Neuronal model |
| HEK293 (embryonic kidney) | 6.2 | Common overexpression system |
| MCF7 (breast cancer) | 9.1 | High expression in ER+ line |
| A549 (lung cancer) | 7.8 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Reduced kinase activity; associated with intellectual disability |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | De novo; autism spectrum disorder |
| c.1120_1121insA (p.Thr374Asnfs*12) | Frameshift | <0.01% | Loss of function; neurodevelopmental phenotype |
| c.788A>G (p.Asn263Ser) | Missense | 0.02% | Somatic; breast cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay; missense variants reducing kinase activity.
Gain of Function (GOF)
Not well documented; some somatic missense variants in cancer may increase kinase activity but evidence is limited.
Dominant Negative (DN)
Not reported for CDK17.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Cell Cycle (Reactome: R-HSA-1640170)
• Signaling by NTRK1 (TRKA) (Reactome: R-HSA-187037)
• Neuronal System (Reactome: R-HSA-112316)
Protein Summary
CDK17 is a 523-amino acid serine/threonine kinase belonging to the PCTAIRE subfamily. It contains a typical kinase domain and a PCTAIRE motif. The protein is activated by binding to cyclin Y (CCNY) and localizes to the cytoplasm and membrane. CDK17 phosphorylates substrates such as MAPT (tau) and SNARE proteins, influencing cytoskeletal organization and vesicle exocytosis. In neurons, it regulates dendrite outgrowth and synaptic function. In cancer, aberrant expression promotes proliferation and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK17 Knockout HEK293 Cell Line | EDJ-KQ2344 | Human | 5128 | Details Get a Quote |
| CDK17 Knockout A-549 Cell Line | EDJ-KQ22764 | Human | 5128 | Details Get a Quote |
| CDK17 Knockout HCT 116 Cell Line | EDJ-KQ22765 | Human | 5128 | Details Get a Quote |
| CDK17 Knockout HeLa Cell Line | EDJ-KQ22766 | Human | 5128 | Details Get a Quote |
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