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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CDKN2C
cyclin dependent kinase inhibitor 2C
Chromosome 1 · 1p32.3
NCBI Gene: 1031Ensembl: ENSG00000123080.13HGNC: HGNC:1789UniProt: P42773
117PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmprotein bindingprotein kinase bindingnegative regulation of cell population proliferationneurodegenerative diseasemultiple myelomatype 2 diabetes mellituscataract
✦AI Summary

CDKN2C encodes a cyclin-dependent kinase inhibitor that functions as a cell cycle regulator and tumor suppressor. The protein interacts strongly with CDK6 and weakly with CDK4 to inhibit cell growth and proliferation through G1/S phase transition, with effects dependent on retinoblastoma protein function 1. CDKN2C operates as a critical negative regulator of cell proliferation and is involved in oligodendrocyte differentiation. Mechanistically, CDKN2C expression is transcriptionally regulated by multiple pathways. The transcription factor MAFF upregulates CDKN2C expression to promote ferroptosis and prevent G1/S progression in lung adenocarcinoma cells 1. Conversely, the polycomb repressive protein CBX8 directly binds CDKN2C promoters to establish repressive histone modifications (H2AK119ub) and silence CDKN2C expression, thereby promoting tumor cell proliferation and migration 2. CDKN2C alterations associate with multiple malignancies. Mutations occur in parathyroid carcinoma 3, and biallelic alterations appear in 17% of extramedullary multiple myeloma cases 4. CDKN2C functions as part of E2F signaling pathway alterations associated with prostate cancer recurrence 5. Notably, CDKN2C remains structurally unaltered in hepatoblastoma despite involvement in hepatocellular carcinoma pathogenesis 6. Clinically, reduced CDKN2C expression correlates with poor outcomes in lung adenocarcinoma and enhanced treatment resistance, suggesting therapeutic targeting of MAFF-mediated CDKN2C regulation may improve cisplatin and radiation efficacy 1.

Sources cited
1
MAFF regulates CDKN2C expression to promote ferroptosis and prevent G1/S cell cycle progression in lung adenocarcinoma; reduced MAFF/CDKN2C associated with worse clinical outcomes and cisplatin resistance
PMID: 38266355
2
CBX8 directly binds CDKN2C promoters and establishes repressive histone modifications to silence CDKN2C, promoting lung adenocarcinoma growth and metastasis
PMID: 37733753
3
CDKN2C mutations identified in parathyroid carcinoma by whole exome sequencing
PMID: 30641523
4
Biallelic alterations in CDKN2C occur in 17% of extramedullary multiple myeloma samples
PMID: 40367415
5
CDKN2C is part of E2F-related gene signature associated with biochemical recurrence and reduced recurrence-free survival in prostate cancer
PMID: 36471446
6
CDKN2C is structurally unaltered in hepatoblastoma and is expressed in hepatoblastoma samples, though alterations in cyclin D types rather than CDKN2 family members appear to play a role in hepatoblastoma development
PMID: 9537438
7
CDKN2C mutations are rare in sporadic primary melanomas; analysis confirmed CDKN2C gene structure
PMID: 11668523
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.54Moderate
multiple myelomaOpen Targets
0.44Moderate
type 2 diabetes mellitusOpen Targets
0.42Moderate
cataractOpen Targets
0.41Moderate
diabetes mellitusOpen Targets
0.40Moderate
anaplastic oligodendrogliomaOpen Targets
0.37Weak
brain glioblastomaOpen Targets
0.37Weak
Parathyroid Gland CarcinomaOpen Targets
0.37Weak
gliomaOpen Targets
0.34Weak
prostate carcinomaOpen Targets
0.32Weak
mathematical abilityOpen Targets
0.31Weak
small cell lung carcinomaOpen Targets
0.30Weak
ocular hypotensionOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.29Weak
hypothyroidismOpen Targets
0.29Weak
hepatocellular carcinomaOpen Targets
0.29Weak
medullary thyroid gland carcinomaOpen Targets
0.29Weak
gastric adenocarcinomaOpen Targets
0.28Weak
meningiomaOpen Targets
0.28Weak
Pathogenic Variants1
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)Likely pathogenic
Multiple myeloma
☆☆☆☆2019→ Residue 77
View on ClinVar ↗
Related Genes
CCND1Protein interaction99%CCND2Protein interaction99%CCND3Protein interaction99%CDK4Protein interaction99%CDK6Protein interaction99%CDKN1AProtein interaction99%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
25%
Ovary
24%
Heart
19%
Lung
12%
Liver
4%
Gene Interaction Network
Click a node to explore
CDKN2CCCND1CCND2CCND3CDK4CDK6CDKN1A
PROTEIN STRUCTURE
Preparing viewer…
PDB1IHB · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.21Tolerant
Observed/Expected LoF0.45 [0.23–0.94]
RankingsWhere CDKN2C stands among ~20K protein-coding genes
  • #4,026of 20,598
    Most Researched117 · top quartile
  • #4,838of 5,498
    Most Pathogenic Variants1
  • #8,740of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedCDKN2C
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Parathyroid Carcinoma.
PMID: 30641523
Front Horm Res · 2019
1.00
2
MAFF confers vulnerability to cisplatin-based and ionizing radiation treatments by modulating ferroptosis and cell cycle progression in lung adenocarcinoma.
PMID: 38266355
Drug Resist Updat · 2024
0.90
3
Analysis of CDKN2A, CDKN2B, CDKN2C, and cyclin Ds gene status in hepatoblastoma.
PMID: 9537438
Hepatology · 1998
0.80
4
CBX8 promotes lung adenocarcinoma growth and metastasis through transcriptional repression of CDKN2C and SCEL.
PMID: 37733753
J Cell Physiol · 2023
0.70
5
Molecular basis of multiple myeloma.
PMID: 39183548
Klin Onkol · 2024
0.60