CDK2AP2 Gene (Cyclin Dependent Kinase 2 Associated Protein 2)
A regulatory subunit of the CDK2-cyclin A complex involved in cell cycle control and tumor suppression.
Gene Information Card
| Symbol | CDK2AP2 |
|---|---|
| Full Name | Cyclin Dependent Kinase 2 Associated Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 10263 ncbi.nlm.nih.gov/gene/10263 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | O75956 |
| OMIM ID | 602198 |
| HGNC ID | 14001 |
| Aliases | DOC-1R, p12DOC-1, DOR1 |
Description
CDK2AP2 (Cyclin Dependent Kinase 2 Associated Protein 2) encodes a protein that interacts with cyclin-dependent kinase 2 (CDK2) and cyclin A. It functions as a negative regulator of cell cycle progression by inhibiting CDK2 activity. The protein is also involved in DNA replication and repair processes. Loss of CDK2AP2 expression has been observed in various cancers, suggesting a tumor suppressor role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oral Squamous Cell Carcinoma | Reduced expression leads to increased CDK2 activity and uncontrolled proliferation | PMID: 10488014 |
| Colorectal Cancer | Downregulation associated with poor prognosis and metastasis | PMID: 21947069 |
| Breast Cancer | Epigenetic silencing contributes to tumor progression | PMID: 22952447 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| HCT116 | 14.1 | Colorectal carcinoma cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| A549 | 9.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Reduced or absent protein expression leads to increased CDK2 activity and cell proliferation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • cell cycle (GO:0007049) |
| • cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004693) |
Pathways
• Cell Cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
Protein Summary
The CDK2AP2 protein (UniProt O75956) is a 115-amino acid polypeptide that localizes to the nucleus and cytoplasm. It binds directly to CDK2 and cyclin A, inhibiting CDK2 kinase activity. This inhibition blocks G1/S transition and DNA replication. The protein also interacts with DNA polymerase alpha/primase complex, suggesting a role in replication initiation. Post-translational modifications include phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK2AP2 Knockout HEK293 Cell Line | EDJ-KQ6980 | Human | 10263 | Details Get a Quote |
| CDK2AP2 Knockout A-549 Cell Line | EDJ-KQ31681 | Human | 10263 | Details Get a Quote |
| CDK2AP2 Knockout HCT 116 Cell Line | EDJ-KQ31682 | Human | 10263 | Details Get a Quote |
| CDK2AP2 Knockout HeLa Cell Line | EDJ-KQ31683 | Human | 10263 | Details Get a Quote |
