CDKN2B
Cyclin Dependent Kinase Inhibitor 2B
Gene Information Card
| Symbol | CDKN2B |
|---|---|
| Full Name | Cyclin Dependent Kinase Inhibitor 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 9p21.3 |
| NCBI Gene ID | 1030 ncbi.nlm.nih.gov/gene/1030 |
| Ensembl ID | ENSG00000147889 |
| UniProt ID | P42772 |
| OMIM ID | 600431 |
| HGNC ID | 1788 |
| Aliases | p15, INK4B, MTS2, TP15, CDK4I |
Description
CDKN2B encodes p15INK4B, a member of the INK4 family of cyclin-dependent kinase inhibitors. It binds to CDK4 and CDK6, preventing their association with cyclin D and thereby inhibiting cell cycle progression through G1 phase. CDKN2B is a tumor suppressor gene frequently deleted or silenced in various cancers, including melanoma, acute lymphoblastic leukemia, and glioblastoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Loss of CDKN2B expression via deletion or methylation contributes to uncontrolled cell proliferation | PMID: 10647931; COSMIC |
| Acute lymphoblastic leukemia (ALL) | Homozygous deletion of CDKN2B is common in ALL, leading to loss of cell cycle control | PMID: 10647931; ClinVar |
| Glioblastoma | CDKN2B deletion at 9p21.3 is frequent, associated with poor prognosis | PMID: 10647931; COSMIC |
| Non-small cell lung cancer | CDKN2B inactivation via promoter methylation or deletion | PMID: 10647931; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Lymph node | 6.5 | Low |
| Brain | 2.1 | Low |
| Skin | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 5.2 | Moderate expression |
| K562 | 3.8 | Low expression |
| A549 | 2.5 | Low expression |
| MCF7 | 1.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.247C>T (p.Arg83Ter) | Nonsense | Rare | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Missense | Rare | Loss of function; start codon loss |
| Deletion of entire CDKN2B | Deletion | Common in ALL | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Most CDKN2B mutations are loss-of-function, including nonsense, frameshift, and deletions, leading to reduced p15INK4B activity and uncontrolled cell cycle progression.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cyclin-dependent protein serine/threonine kinase inhibitor activity | • protein binding |
| • cell cycle arrest | • negative regulation of cell cycle |
| • negative regulation of phosphorylation |
Pathways
• Cell cycle (KEGG hsa04110)
• p53 signaling pathway (KEGG hsa04115)
• TGF-beta signaling pathway (KEGG hsa04350)
Protein Summary
p15INK4B is a 138-amino acid protein containing ankyrin repeats that mediate binding to CDK4 and CDK6. It functions as a cell cycle inhibitor by preventing CDK4/6-cyclin D complex formation, thereby blocking G1/S transition. Loss of p15INK4B contributes to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDKN2B Knockout HEK293 Cell Line | EDJ-KQ1535 | Human | 1030 | Details Get a Quote |
| CDKN2B Knockout HeLa Cell Line | EDJ-KQ21194 | Human | 1030 | Details Get a Quote |
| CDKN2B Knockout HCT 116 Cell Line | EDJ-KQ19832 | Human | 1030 | Details Get a Quote |
| CDKN2B Knockout A-549 Cell Line | EDJ-KQ61335 | Human | 1030 | Details Get a Quote |
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