DEK Gene
DEK Proto-Oncogene: Chromatin Remodeling Factor and Oncogenic Driver
Gene Information Card
| Symbol | DEK |
|---|---|
| Full Name | DEK proto-oncogene |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 7913 ncbi.nlm.nih.gov/gene/7913 |
| Ensembl ID | ENSG00000124795 |
| UniProt ID | P35659 |
| OMIM ID | 600773 |
| HGNC ID | 2752 |
| Aliases | D6S231E, DEK oncogene, DEK protein |
Description
The DEK gene encodes a chromatin-associated protein involved in DNA replication, repair, and transcriptional regulation. DEK is a proto-oncogene frequently overexpressed in various cancers and is a component of the DEK-NUP214 fusion protein resulting from a recurrent translocation in acute myeloid leukemia. It modulates chromatin structure by binding to DNA and histones, influencing gene expression and cellular proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | DEK-NUP214 fusion from t(6;9)(p22;q34) translocation drives leukemogenesis | PMID: 8381576, COSMIC |
| Bladder Cancer | DEK overexpression promotes cell proliferation and invasion | PMID: 22952190 |
| Breast Cancer | DEK upregulation correlates with poor prognosis and metastasis | PMID: 22198284 |
| Colorectal Cancer | DEK overexpression enhances Wnt/β-catenin signaling | PMID: 24662815 |
| Melanoma | DEK overexpression supports tumor growth and resistance to apoptosis | PMID: 22492944 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Spleen | 7.1 | Low |
| Lung | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K562 | 14.1 | Leukemia cell line |
| MCF7 | 12.8 | Breast cancer cell line |
| A549 | 11.5 | Lung cancer cell line |
| HEK293 | 9.2 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| DEK-NUP214 fusion | Translocation | Rare in AML (1-5%) | Oncogenic fusion protein |
| Missense (p.Arg128Gln) | Missense | <0.1% | Unknown functional effect |
| Silent (p.Leu45Leu) | Silent | <0.1% | No effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no common loss-of-function mutations reported.
Gain of Function (GOF)
DEK overexpression and DEK-NUP214 fusion act as gain-of-function events promoting proliferation and survival.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Wnt/β-catenin signaling pathway
• DNA damage response
• Chromatin organization
Protein Summary
DEK is a 375-amino acid nuclear phosphoprotein with a molecular weight of approximately 43 kDa. It contains a SAP domain (SAF-A/B, Acinus, PIAS) involved in DNA binding and chromatin architecture. DEK interacts with histones and DNA to alter chromatin compaction, thereby regulating transcription, replication, and repair. It is ubiquitously expressed but elevated in many cancers, where it promotes cell cycle progression and inhibits apoptosis. The DEK-NUP214 fusion protein retains the DNA-binding domain of DEK and the FG-repeat domain of NUP214, contributing to leukemogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEK Knockout HEK293 Cell Line | EDJ-KQ5439 | Human | 7913 | Details Get a Quote |
| DEK Knockout A-549 Cell Line | EDJ-KQ29927 | Human | 7913 | Details Get a Quote |
| DEK Knockout HCT 116 Cell Line | EDJ-KQ29928 | Human | 7913 | Details Get a Quote |
| DEK Knockout HeLa Cell Line | EDJ-KQ29929 | Human | 7913 | Details Get a Quote |
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