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

    Gene ID: 7913, updated on 3-Nov-2024

    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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18223860..18264530, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (18096002..18136672, complement)
    RS_2024_09 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 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. DEK expression in melanocytic lesions. Kappes F, et al. Hum Pathol, 2011 Jul. PMID 21316078, Free PMC Article
    2. High expression of DEK predicts poor prognosis of gastric adenocarcinoma. Piao J, et al. Diagn Pathol, 2014 Mar 20. PMID 24650035, Free PMC Article
    3. DEK promotes the proliferation and invasion of lung cancers and indicates poor prognosis in lung adenocarcinomas. Yang MQ, et al. Oncol Rep, 2020 Apr. PMID 32020224
    4. DEK over expression as an independent biomarker for poor prognosis in colorectal cancer. Lin L, et al. BMC Cancer, 2013 Jul 31. PMID 23902796, Free PMC Article
    5. DEK depletion negatively regulates Rho/ROCK/MLC pathway in non-small cell lung cancer. Wang J, et al. J Histochem Cytochem, 2013 Jul. PMID 23571382, Free PMC Article

    See all (256) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DEK regulates B-cell proliferative capacity and is associated with aggressive disease in low-grade B-cell lymphomas.
      Title: DEK regulates B-cell proliferative capacity and is associated with aggressive disease in low-grade B-cell lymphomas.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. DEK modulates both expression and alternative splicing of cancerrelated genes.
      Title: DEK modulates both expression and alternative splicing of cancer‑related genes.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (105)

    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 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 muscle 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_2024_08

    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

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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