CDKN2AIP
CDKN2A Interacting Protein
Gene Information Card
| Symbol | CDKN2AIP |
|---|---|
| Full Name | CDKN2A Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 55646 ncbi.nlm.nih.gov/gene/55646 |
| Ensembl ID | ENSG00000138669 |
| UniProt ID | Q9NXV6 |
| OMIM ID | 614769 |
| HGNC ID | 24367 |
| Aliases | CARF, MGC15887 |
Description
CDKN2AIP (CDKN2A Interacting Protein) is a protein-coding gene that encodes a protein involved in the regulation of cell cycle arrest and apoptosis. The encoded protein interacts with CDKN2A (p16INK4a) and plays a role in the p53/TP53 pathway, influencing cellular senescence and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of CDKN2AIP may affect p53-mediated tumor suppression | PMID: 17938206 |
| Aging-related disorders | CDKN2AIP is implicated in cellular senescence pathways | PMID: 17938206 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| MCF7 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown |
| c.205G>A (p.Val69Ile) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of interaction with CDKN2A may impair senescence.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA damage response (GO:0006974) | • cell cycle (GO:0007049) |
| • cell proliferation (GO:0008283) |
Pathways
• p53 signaling pathway
• Cellular senescence
Protein Summary
The CDKN2AIP protein is a nuclear protein that interacts with CDKN2A (p16INK4a) and modulates p53 activity. It is involved in the regulation of cell cycle arrest, apoptosis, and cellular senescence, contributing to tumor suppression and aging processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDKN2AIP Knockout HEK293 Cell Line | EDJ-KQ11934 | Human | 55602 | Details Get a Quote |
| CDKN2AIP Knockout HeLa Cell Line | EDJ-KQ39198 | Human | 55602 | Details Get a Quote |
| CDKN2AIP Knockout A-549 Cell Line | EDJ-KQ40441 | Human | 55602 | Details Get a Quote |
| CDKN2AIP Knockout HCT 116 Cell Line | EDJ-KQ40442 | Human | 55602 | Details Get a Quote |
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