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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDK2AP1
cyclin dependent kinase 2 associated protein 1
Chromosome 12 · 12q24.31
NCBI Gene: 8099Ensembl: ENSG00000111328.7HGNC: HGNC:14002UniProt: O14519
80PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription FactorTumor Suppressor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA polymerase bindingnucleoplasmcytosolosteoarthritisosteoarthritis, kneeuterine fibroidcolorectal cancer
✦AI Summary

CDK2AP1 (cyclin dependent kinase 2 associated protein 1) functions as a multifaceted regulator of cell cycle progression and chr12 remodeling. The protein serves as an inhibitor of cyclin-dependent kinase CDK2 and acts as a component of the histone deacetylase NuRD complex, participating in chr12 remodeling 1. CDK2AP1 generates functionally distinct isoforms, including an N-terminally truncated form (Cdk2ap1ΔN) that promotes proliferation during preimplantation development, while the canonical form represses cell proliferation 2. The gene exhibits tumor suppressive properties, with higher expression correlating with lower TNM staging in breast cancer 3 and reduced expression associated with multiple sclerosis susceptibility 4. CDK2AP1 plays a critical role in stem cell biology, where knockdown reduces pluripotency gene expression (OCT4, NANOG) and lowers the threshold for differentiation in human embryonic stem cells through p53-dependent mechanisms 5. The protein is subject to post-transcriptional regulation by miR-21, which downregulates CDK2AP1 expression and promotes cell proliferation and invasion 6. In hepatocellular carcinoma, elevated CDK2AP1 expression correlates with poor prognosis and increased immune cell infiltration 7, highlighting its dual roles in cell cycle control and epigenetic regulation across different biological contexts.

Sources cited
1
The protein serves as an inhibitor of cyclin-dependent kinase CDK2 and acts as a component of the histone deacetylase NuRD complex, participating in chr12 remodeling .
PMID: 16428440
2
CDK2AP1 generates functionally distinct isoforms, including an N-terminally truncated form (Cdk2ap1ΔN) that promotes proliferation during preimplantation development, while the canonical form represses cell proliferation .
PMID: 34644528
3
The gene exhibits tumor suppressive properties, with higher expression correlating with lower TNM staging in breast cancer and reduced expression associated with multiple sclerosis susceptibility .
PMID: 30343278
4
The gene exhibits tumor suppressive properties, with higher expression correlating with lower TNM staging in breast cancer and reduced expression associated with multiple sclerosis susceptibility .
PMID: 20555355
5
CDK2AP1 plays a critical role in stem cell biology, where knockdown reduces pluripotency gene expression (OCT4, NANOG) and lowers the threshold for differentiation in human embryonic stem cells through p53-dependent mechanisms .
PMID: 29734353
6
The protein is subject to post-transcriptional regulation by miR-21, which downregulates CDK2AP1 expression and promotes cell proliferation and invasion .
PMID: 21328460
7
In hepatocellular carcinoma, elevated CDK2AP1 expression correlates with poor prognosis and increased immune cell infiltration , highlighting its dual roles in cell cycle control and epigenetic regulation across different biological contexts.
PMID: 36105112
Disease Associationsⓘ20
osteoarthritisOpen Targets
0.31Weak
osteoarthritis, kneeOpen Targets
0.22Weak
uterine fibroidOpen Targets
0.20Weak
colorectal cancerOpen Targets
0.17Weak
Alzheimer diseaseOpen Targets
0.16Weak
Uterine leiomyomaOpen Targets
0.15Weak
asthmaOpen Targets
0.14Weak
neurodegenerative diseaseOpen Targets
0.14Weak
mathematical abilityOpen Targets
0.13Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
allergic diseaseOpen Targets
0.13Weak
Abnormal meniscus morphologyOpen Targets
0.13Weak
allergic rhinitisOpen Targets
0.12Weak
atopic eczemaOpen Targets
0.12Weak
health study participationOpen Targets
0.11Weak
joint diseaseOpen Targets
0.10Weak
schizophreniaOpen Targets
0.10Weak
osteoarthritis, hipOpen Targets
0.10Suggestive
total joint arthroplastyOpen Targets
0.10Suggestive
ArthropathyOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GATAD2AProtein interaction100%HDAC1Protein interaction100%MTA1Protein interaction100%RBBP4Protein interaction99%GATAD2BProtein interaction99%HDAC2Protein interaction98%
Tissue Expression6 tissues
Brain
100%
Heart
60%
Bone Marrow
54%
Lung
32%
Ovary
24%
Liver
22%
Gene Interaction Network
Click a node to explore
CDK2AP1GATAD2AHDAC1MTA1RBBP4GATAD2BHDAC2
PROTEIN STRUCTURE
Preparing viewer…
PDB2KW6 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.52LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.69 [0.34–1.52]
RankingsWhere CDK2AP1 stands among ~20K protein-coding genes
  • #5,931of 20,598
    Most Researched80
  • #15,286of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedCDK2AP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A mouse-specific retrotransposon drives a conserved Cdk2ap1 isoform essential for development.
PMID: 34644528
Cell · 2021
1.00
2
mRNA Expression of
PMID: 30343278
Cancer Genomics Proteomics · 2018
0.90
3
Double edge: CDK2AP1 in cell-cycle regulation and epigenetic regulation.
PMID: 21865592
J Dent Res · 2012
0.80
4
Knockdown of CDK2AP1 by RNA interference inhibits cell growth and tumorigenesis of human glioma.
PMID: 24620959
Neurol Res · 2014
0.70
5
IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci.
PMID: 20555355
Genes Immun · 2010
0.60