CDK2AP1 Gene - Cyclin Dependent Kinase 2 Associated Protein 1
A key regulator of cell cycle progression and tumor suppression
Gene Information Card
| Symbol | CDK2AP1 |
|---|---|
| Full Name | Cyclin Dependent Kinase 2 Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 8099 ncbi.nlm.nih.gov/gene/8099 |
| Ensembl ID | ENSG00000111328 |
| UniProt ID | O14519 |
| OMIM ID | 602198 |
| HGNC ID | 1749 |
| Aliases | DOC-1, DORC1, ST19, p12DOC-1 |
Description
CDK2AP1 (Cyclin Dependent Kinase 2 Associated Protein 1) encodes a protein that interacts with and negatively regulates CDK2 activity, thereby controlling cell cycle progression at the G1/S transition. It also participates in DNA replication and chromatin remodeling. Loss or downregulation of CDK2AP1 is associated with 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 | Promoter hypermethylation silences CDK2AP1 expression | PMID: 15696243 |
| Gastric Cancer | Downregulation correlates with poor prognosis | PMID: 19030189 |
| Hepatocellular Carcinoma | Loss of CDK2AP1 promotes cell cycle progression | PMID: 21779513 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K562 | 11.7 | Leukemia cell line |
| A549 | 9.8 | Lung cancer cell line |
| MCF7 | 7.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Loss of start codon, likely loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.1% | Unknown significance |
| c.341_342delAG | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the CDK2-binding domain are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CDK2AP1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CDK2AP1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • cell cycle (GO:0007049) |
| • regulation of cell cycle (GO:0051726) | • chromatin remodeling (GO:0006338) |
Pathways
• Cell Cycle
• G1/S Transition
• p53-Independent DNA Damage Response
• Chromatin Remodeling by SMARCA4
Protein Summary
CDK2AP1 is a 115-amino acid protein (12 kDa) that contains a nuclear localization signal and a CDK2-binding domain. It inhibits CDK2 activity by direct interaction, leading to G1 arrest. The protein also associates with DNA polymerase alpha/primase and the SWI/SNF chromatin remodeling complex, suggesting roles in DNA replication and epigenetic regulation. Reduced expression is observed in multiple cancers, often due to promoter hypermethylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDK2AP1 Knockout HEK293 Cell Line | EDJ-KQ2448 | Human | 8099 | Details Get a Quote |
| CDK2AP1 Knockout A-549 Cell Line | EDJ-KQ22971 | Human | 8099 | Details Get a Quote |
| CDK2AP1 Knockout HCT 116 Cell Line | EDJ-KQ22972 | Human | 8099 | Details Get a Quote |
| CDK2AP1 Knockout HeLa Cell Line | EDJ-KQ22973 | Human | 8099 | Details Get a Quote |
