CDK10 (Cyclin Dependent Kinase 10): Gene, Function, and Disease Associations
A comprehensive overview of the CDK10 gene, including its genomic context, protein function, expression patterns, mutations, and clinical significance.
Gene Information Card
| Symbol | CDK10 |
|---|---|
| Full Name | Cyclin Dependent Kinase 10 |
| Gene Type | protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 8558 ncbi.nlm.nih.gov/gene/8558 |
| Ensembl ID | ENSG00000172531 |
| UniProt ID | Q15131 |
| OMIM ID | 603861 |
| HGNC ID | 1770 |
| Aliases | PISSLRE, CDC2L1, cyclin-dependent kinase 10 |
Description
CDK10 (cyclin dependent kinase 10) is a protein-coding gene located on chromosome 16q24.3. It encodes a member of the cyclin-dependent kinase (CDK) family, which are serine/threonine kinases involved in cell cycle regulation and transcription. CDK10 is known to interact with cyclin M (CNMM) and plays a role in various cellular processes, including cell proliferation, differentiation, and apoptosis. Mutations in CDK10 have been associated with developmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorder (e.g., intellectual disability, growth retardation) | Loss-of-function mutations in CDK10 disrupt its kinase activity, affecting cell cycle progression and neuronal development. | ClinVar, OMIM |
| Breast cancer | CDK10 acts as a tumor suppressor; reduced expression or loss-of-function mutations lead to increased cell proliferation and metastasis. | COSMIC, PubMed (via NCBI) |
| Pancreatic cancer | Altered CDK10 expression or mutations may contribute to tumorigenesis by dysregulating cell cycle control. | COSMIC |
| Colorectal cancer | CDK10 downregulation is associated with poor prognosis and increased tumor aggressiveness. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 10.2 | Moderate expression |
| A549 (lung cancer) | 7.8 | Low expression |
| MCF7 (breast cancer) | 6.5 | Low expression |
| K562 (leukemia) | 9.1 | Moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
| c.283C>T (p.Arg95Ter) | Nonsense | Rare | Premature stop codon, loss of function |
| c.500_501del (p.Glu167fs) | Frameshift | Rare | Frameshift leading to truncated protein |
| c.700G>A (p.Asp234Asn) | Missense | Somatic in cancer | Potential kinase domain alteration |
Mutation functional classification
Loss of Function (LOF)
Most CDK10 mutations are loss-of-function, leading to reduced kinase activity or protein stability, which impairs cell cycle regulation and contributes to developmental defects or tumor progression.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for CDK10; it is primarily considered a tumor suppressor.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner, interfering with wild-type CDK10 function, though evidence is limited.
View complete mutation data:
Gene Ontology (GO)
| • protein kinase activity | • ATP binding |
| • cyclin-dependent protein serine/threonine kinase activity | • cell cycle |
| • cell division | • regulation of transcription |
| • apoptotic process | • nucleus |
| • cytoplasm |
Pathways
• Cell cycle
• p53 signaling pathway
• Apoptosis
• Regulation of transcription
Protein Summary
The CDK10 protein is a serine/threonine kinase that requires association with cyclin M (CNMM) for activity. It phosphorylates substrates involved in cell cycle progression, particularly at the G2/M transition. CDK10 also regulates transcription by interacting with transcription factors. Its expression is ubiquitous but varies across tissues. Loss of CDK10 function is linked to developmental disorders and cancer, highlighting its role as a tumor suppressor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK10 Knockout HEK293 Cell Line | EDJ-KQ3866 | Human | 8558 | Details Get a Quote |
| CDK10 Knockout A-549 Cell Line | EDJ-KQ26062 | Human | 8558 | Details Get a Quote |
| CDK10 Knockout HCT 116 Cell Line | EDJ-KQ26063 | Human | 8558 | Details Get a Quote |
| CDK10 Knockout HeLa Cell Line | EDJ-KQ26064 | Human | 8558 | Details Get a Quote |
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