CDKN2C
Cyclin Dependent Kinase Inhibitor 2C
Gene Information Card
| Symbol | CDKN2C |
|---|---|
| Full Name | Cyclin Dependent Kinase Inhibitor 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 1031 ncbi.nlm.nih.gov/gene/1031 |
| Ensembl ID | ENSG00000123080 |
| UniProt ID | P42773 |
| OMIM ID | 603369 |
| HGNC ID | 1781 |
| Aliases | p18, p18-INK4c, INK4C |
Description
CDKN2C (Cyclin Dependent Kinase Inhibitor 2C) encodes p18INK4c, a member of the INK4 family of cyclin-dependent kinase inhibitors. p18INK4c binds to CDK4 and CDK6, preventing their interaction with cyclin D and thereby inhibiting cell cycle progression through G1 phase. The gene functions as a tumor suppressor and is frequently altered in various cancers, including melanoma, glioma, and multiple endocrine neoplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple endocrine neoplasia type 1 (MEN1) | Loss of CDKN2C expression contributes to tumorigenesis in MEN1-associated pancreatic neuroendocrine tumors. | PMID: 20111058 |
| Melanoma | CDKN2C deletions and mutations are recurrent in familial and sporadic melanoma, leading to loss of cell cycle control. | PMID: 22158542 |
| Glioma | CDKN2C homozygous deletions are common in glioblastoma and associated with poor prognosis. | PMID: 18772890 |
| Acute lymphoblastic leukemia (ALL) | CDKN2C deletions occur in a subset of T-ALL and B-ALL cases, contributing to leukemogenesis. | PMID: 19657110 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.5 | Medium |
| Skin | 6.2 | Low |
| Pancreas | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line |
| K562 | 11.4 | Chronic myeloid leukemia cell line |
| HeLa | 8.9 | Cervical cancer cell line |
| A549 | 6.7 | Lung carcinoma cell line |
| MCF7 | 5.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.262C>T (p.Arg88*) | Nonsense | <1% in melanoma | Truncation, loss of function |
| c.1A>G (p.Met1?) | Missense | Rare | Initiation codon loss, loss of function |
| c.71_72del (p.Leu24Argfs*13) | Frameshift | Rare | Premature stop, loss of function |
| Homozygous deletion | Copy number loss | ~5% in glioblastoma | Complete loss of gene |
Mutation functional classification
Loss of Function (LOF)
Most CDKN2C mutations are loss-of-function, including nonsense, frameshift, and homozygous deletions, leading to reduced p18INK4c activity and unchecked CDK4/6 activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CDKN2C.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CDKN2C.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle
• G1/S Checkpoint (Reactome: R-HSA-69278)
• p53-Independent G1/S DNA damage checkpoint (Reactome: R-HSA-69620)
• CDK-mediated phosphorylation and removal of Cdc6 (Reactome: R-HSA-69017)
Protein Summary
The p18INK4c protein (UniProt P42773) is a 168-amino acid cyclin-dependent kinase inhibitor that specifically inhibits CDK4 and CDK6. It contains an ankyrin repeat domain essential for binding to CDK4/6. p18INK4c is predominantly nuclear and acts as a negative regulator of cell proliferation by blocking G1/S transition. Loss of p18INK4c function contributes to oncogenesis in multiple tissue types.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDKN2C Knockout HEK293 Cell Line | EDJ-KQ4245 | Human | 1031 | Details Get a Quote |
| CDKN2C Knockout A-549 Cell Line | EDJ-KQ26715 | Human | 1031 | Details Get a Quote |
| CDKN2C Knockout HCT 116 Cell Line | EDJ-KQ26716 | Human | 1031 | Details Get a Quote |
| CDKN2C Knockout HeLa Cell Line | EDJ-KQ26717 | Human | 1031 | Details Get a Quote |
