CDKN2D
Cyclin Dependent Kinase Inhibitor 2D
Gene Information Card
| Symbol | CDKN2D |
|---|---|
| Full Name | Cyclin Dependent Kinase Inhibitor 2D |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 1032 ncbi.nlm.nih.gov/gene/1032 |
| Ensembl ID | ENSG00000129355 |
| UniProt ID | P55273 |
| OMIM ID | 600927 |
| HGNC ID | 1786 |
| Aliases | p19INK4d, INK4D |
Description
CDKN2D (Cyclin Dependent Kinase Inhibitor 2D) encodes a member of the INK4 family of cyclin-dependent kinase inhibitors. The protein, p19INK4d, binds to and inhibits CDK4 and CDK6, thereby regulating cell cycle progression through the G1 phase. It functions as a tumor suppressor by controlling cell proliferation and is involved in cellular senescence and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | Loss of CDKN2D expression may contribute to dysregulated cell cycle control in melanoma development. | ClinVar, COSMIC |
| Pancreatic cancer | Altered CDKN2D expression or mutation may affect CDK4/6 inhibition, promoting tumorigenesis. | COSMIC, NCBI Gene |
| Breast cancer | Reduced CDKN2D levels have been observed in some breast cancers, potentially impacting cell cycle arrest. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| MCF7 | 5.4 | Breast cancer cells |
| A549 | 4.2 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Potential loss of function |
| c.67C>T | Nonsense | <0.1% | Truncation, likely loss of function |
| c.148G>A | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CDKN2D are predicted to result in loss of CDK4/6 inhibitory activity, leading to unchecked cell cycle progression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CDKN2D.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CDKN2D.
View complete mutation data：
Gene Ontology (GO)
| • cyclin-dependent protein serine/threonine kinase inhibitor activity | • protein binding |
| • cell cycle | • negative regulation of cell cycle |
| • G1/S transition of mitotic cell cycle |
Pathways
• Cell Cycle
• G1/S Checkpoint
• p53-Independent G1/S DNA damage checkpoint
• CDK4/CDK6 regulation by INK4 family
Protein Summary
The CDKN2D protein, p19INK4d, is a 166-amino acid cyclin-dependent kinase inhibitor that specifically inhibits CDK4 and CDK6. It contains ankyrin repeat domains that mediate binding to CDK4/6, preventing their association with cyclin D and subsequent phosphorylation of RB1. This action blocks cell cycle progression from G1 to S phase. p19INK4d is widely expressed and plays roles in cellular senescence, differentiation, and tumor suppression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDKN2D Knockout HEK293 Cell Line | EDJ-KQ1536 | Human | 1032 | Details Get a Quote |
| CDKN2D Knockout A-549 Cell Line | EDJ-KQ21195 | Human | 1032 | Details Get a Quote |
| CDKN2D Knockout HCT 116 Cell Line | EDJ-KQ21196 | Human | 1032 | Details Get a Quote |
| CDKN2D Knockout HeLa Cell Line | EDJ-KQ21197 | Human | 1032 | Details Get a Quote |
