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.

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 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
Displaying Records 1 To 4 Of 4 Records
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