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.

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 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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