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DEK DEK proto-oncogene [ Homo sapiens (human) ]

Gene ID: 7913, updated on 3-Dec-2023

Summary

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Official Symbol
DEKprovided by HGNC
Official Full Name
DEK proto-oncogeneprovided by HGNC
Primary source
HGNC:HGNC:2768
See related
Ensembl:ENSG00000124795 MIM:125264; AllianceGenome:HGNC:2768
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D6S231E
Summary
This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Expression
Ubiquitous expression in lymph node (RPKM 58.8), thyroid (RPKM 53.1) and 25 other tissues See more
Orthologs
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Genomic context

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See DEK in Genome Data Viewer
Location:
6p22.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18223860..18264530, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (18096002..18136672, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18224091..18264761, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:18146951-18148150 Neighboring gene thiopurine S-methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24117 Neighboring gene lysine demethylase 1B Neighboring gene MPRA-validated peak5710 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24119 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:18227006-18227518 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:18227519-18228032 Neighboring gene Sharpr-MPRA regulatory region 13525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:18263885-18264436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16973 Neighboring gene uncharacterized LOC124901270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16974 Neighboring gene RNA, U6 small nuclear 263, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia. Wilcher KE, et al. Exp Hematol, 2023 Jul. PMID 37172756,
  2. Role of DEK in carcinogenesis, diagnosis, prognosis, and therapeutic outcome of breast cancer: An evidence-based clinical review. Habiburrahman M, et al. Crit Rev Oncol Hematol, 2023 Jan. PMID 36535490
  3. Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2. Özçelik E, et al. PLoS One, 2022. PMID 36190960, Free PMC Article
  4. In silico gene expression and pathway analysis of DEK in the human brain across the lifespan. Greene AN, et al. Eur J Neurosci, 2022 Sep. PMID 35972263, Free PMC Article
  5. DEK modulates both expression and alternative splicing of cancer‑related genes. Liu B, et al. Oncol Rep, 2022 Jun. PMID 35475534, Free PMC Article

See all (236) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Imaging-based study demonstrates how the DEK nanoscale distribution differentially correlates with epigenetic marks in a breast cancer model.
    Title: Imaging-based study demonstrates how the DEK nanoscale distribution differentially correlates with epigenetic marks in a breast cancer model.
  2. The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia.
    Title: The impact of the chromatin binding DEK protein in hematopoiesis and acute myeloid leukemia.
  3. Role of DEK in carcinogenesis, diagnosis, prognosis, and therapeutic outcome of breast cancer: An evidence-based clinical review.
    Title: Role of DEK in carcinogenesis, diagnosis, prognosis, and therapeutic outcome of breast cancer: An evidence-based clinical review.
  4. Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2.
    Title: Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2.
  5. p21-activated kinase 2 binds to transcription factor SOX2 and up-regulates DEK to promote the progression of lung squamous cell carcinoma.
    Title: p21-activated kinase 2 binds to transcription factor SOX2 and up-regulates DEK to promote the progression of lung squamous cell carcinoma.
  6. In silico gene expression and pathway analysis of DEK in the human brain across the lifespan.
    Title: In silico gene expression and pathway analysis of DEK in the human brain across the lifespan.
  7. Long Non-Coding LEF1-AS1 Sponge miR-5100 Regulates Apoptosis and Autophagy in Gastric Cancer Cells via the miR-5100/DEK/AMPK-mTOR Axis.
    Title: Long Non-Coding LEF1-AS1 Sponge miR-5100 Regulates Apoptosis and Autophagy in Gastric Cancer Cells via the miR-5100/DEK/AMPK-mTOR Axis.
  8. DEK modulates both expression and alternative splicing of cancerrelated genes.
    Title: DEK modulates both expression and alternative splicing of cancer‑related genes.
  9. DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.
    Title: DEK-AFF2 Carcinoma of the Sinonasal Region and Skull Base: Detailed Clinicopathologic Characterization of a Distinctive Entity.
  10. KIF15 upregulation promotes leiomyosarcoma cell growth via promoting USP15-mediated DEK deubiquitylation.
    Title: KIF15 upregulation promotes leiomyosarcoma cell growth via promoting USP15-mediated DEK deubiquitylation.
Submit: New GeneRIF Correction See all GeneRIFs (104)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables RNA binding HDA PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin remodeling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of histone acetylation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase I NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase III IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of double-strand break repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of double-strand break repair via nonhomologous end joining IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
involved_in viral genome replication TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of B-WICH complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in contractile fiber IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein DEK
Names
DEK oncogene (DNA binding)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042290.1 RefSeqGene

    Range
    5039..45709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1375

mRNA and Protein(s)

  1. NM_001134709.2 → NP_001128181.1  protein DEK isoform 2

    See identical proteins and their annotated locations for NP_001128181.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK297749, AL031774, BC035259, BQ574048
    Consensus CDS
    CCDS47382.1
    UniProtKB/TrEMBL
    B4DNW3
    Related
    ENSP00000244776.7, ENST00000244776.11
    Conserved Domains (2) summary
    smart00513
    Location:115 → 149
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam08766
    Location:288 → 340
    DEK_C; DEK C terminal domain

  2. NM_003472.4 → NP_003463.1  protein DEK isoform 1

    See identical proteins and their annotated locations for NP_003463.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL031774, BC035259, CN388433
    Consensus CDS
    CCDS34344.1
    UniProtKB/Swiss-Prot
    B2R6K6, B4DN37, P35659, Q5TGV4, Q5TGV5
    UniProtKB/TrEMBL
    B4DNW3
    Related
    ENSP00000498653.1, ENST00000652689.1
    Conserved Domains (2) summary
    smart00513
    Location:149 → 183
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam08766
    Location:320 → 374
    DEK_C; DEK C terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    18223860..18264530 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446544.2 → XP_024302312.1  protein DEK isoform X1

    UniProtKB/Swiss-Prot
    B2R6K6, B4DN37, P35659, Q5TGV4, Q5TGV5
    UniProtKB/TrEMBL
    B4DNW3
    Related
    ENSP00000498335.1, ENST00000652576.1
    Conserved Domains (2) summary
    smart00513
    Location:149 → 183
    SAP; Putative DNA-binding (bihelical) motif predicted to be involved in chromosomal organisation
    pfam08766
    Location:320 → 374
    DEK_C; DEK C terminal domain

  2. XM_047419335.1 → XP_047275291.1  protein DEK isoform X2

    UniProtKB/TrEMBL
    H0Y8X0
    Related
    ENSP00000422380.2, ENST00000515770.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    18096002..18136672 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356377.1 → XP_054212352.1  protein DEK isoform X1

    UniProtKB/Swiss-Prot
    B2R6K6, B4DN37, P35659, Q5TGV4, Q5TGV5
    UniProtKB/TrEMBL
    B4DNW3

  2. XM_054356379.1 → XP_054212354.1  protein DEK isoform X2

    UniProtKB/TrEMBL
    H0Y8X0

  3. XM_054356378.1 → XP_054212353.1  protein DEK isoform X2

    UniProtKB/TrEMBL
    H0Y8X0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35659.1 GenPept UniProtKB/Swiss-Prot:P35659

Gene LinkOut

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