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    DDB2 damage-specific DNA binding protein 2, 48kDa [ Homo sapiens ]

    Gene ID: 1643, updated on 12-May-2012
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    Summary

    Official Symbol
    DDB2provided by HGNC
    Official Full Name
    damage-specific DNA binding protein 2, 48kDaprovided by HGNC
    Primary source
    HGNC:2718
    See related
    Ensembl:ENSG00000134574; HPRD:02886; MIM:600811
    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
    DDBB; UV-DDB2; FLJ34321
    Summary
    This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    11p12-p11
    Sequence :
    Chromosome: 11; NC_000011.9 (47236493..47260769)
    See DDB2 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene protein kinase C and casein kinase substrate in neurons 3 Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene acid phosphatase 2, lysosomal Neighboring gene nuclear receptor subfamily 1, group H, member 3 Neighboring gene MAP-kinase activating death domain

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. The molecular basis of CRL4DDB2/CSA ubiquitin ligase architecture, targeting, and activation. Fischer ES, et al. Cell, 2011 Nov 23. PMID 22118460.
    2. Regulation of nucleotide excision repair by UV-DDB: prioritization of damage recognition to internucleosomal DNA. Fei J, et al. PLoS Biol, 2011 Oct. PMID 22039351.
    3. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. DDB2 subunit of UV-DDB associates transiently with the DNA-binding domain of XPC to fine-tune its engagement with CPD lesions
      Title: Regulation of nucleotide excision repair by UV-DDB: prioritization of damage recognition to internucleosomal DNA.
    2. Studies indicate the modular architecture of DDB1-CUL4 in complex with DDB2, CSA and CDT2 in DNA repair of UV-induced DNA lesions.
      Title: Detecting UV-lesions in the genome: The modular CRL4 ubiquitin ligase does it best!
    3. Nucleotide excision repair proteins rapidly accumulate but fail to persist in human xeroderma pigmentosum XP-E (DDB2 mutant) cells.
      Title: Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.
    4. Multiple skin cancers in adults are associted with mutations in the XP-E (DDB2) DNA repair gene.
      Title: Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
    6. Overexpression of DDB2 enhances the sensitivity of ovarian cancer cells to cisplatin by augmenting cellular apoptosis.
      Title: Overexpression of DDB2 enhances the sensitivity of human ovarian cancer cells to cisplatin by augmenting cellular apoptosis.
    7. Damaged DNA-binding protein 2 (DDB2) protects against UV irradiation in human cells and Drosophila
      Title: Damaged DNA-binding protein 2 (DDB2) protects against UV irradiation in human cells and Drosophila.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Variation within DNA repair pathway genes and risk of multiple sclerosis.
    9. Data show that XPC and Ku oppositely regulate the ubiquitin ligase activity of DDB2, and that DDB2 complex-mediated ubiquitylation plays a role in recruiting XPA to damaged sites.
      Title: DDB2 complex-mediated ubiquitylation around DNA damage is oppositely regulated by XPC and Ku and contributes to the recruitment of XPA.
    10. Results provide evidence for a new regulatory loop involving the NER protein DDB2, Mdm2, and p21(Waf1/Cip1) that is critical in deciding cell fate (apoptosis or arrest) upon DNA damage.
      Title: DDB2 decides cell fate following DNA damage.
    Submit: New GeneRIF Correction See all (43)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Xeroderma pigmentosum, group E, DDB-negative subtype

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000011.8 NP_002458.1 MYC    BIND  PubMed c-Myc interacts with DDB2 promoter. 
    NC_000011.8 NP_003434.1 ZBTB17    BIND  PubMed Miz1 interacts with DDB2 promoter. 
    NP_000098.1 NP_001914.2 DDB1    BIND  PubMed DDB1 interacts with DDB2. This interaction was modeled on a demonstrated interaction between hamster DDB1 and human DDB2. 
    NP_000098.1 NP_004619.2 XPC    BIND  PubMed DDB2 interacts with XPC. This interaction was modeled on a demonstrated interaction between human DDB2 and hamster XPC. 
    NP_000098.1     BIND  PubMed The STAGA complex interacts with DDB2. 
    Q92466 P00519 ABL1    HPRD  PubMed  
    Q92466 Q16531 DDB1    HPRD  PubMed  
    Q92466 Q01094 E2F1    HPRD  PubMed  
    Q92466 Q13547 HDAC1    HPRD  PubMed  
    Q92466 Q9NVE5 USP40    HPRD  PubMed  
    Q92466 P23025 XPA    HPRD  PubMed  
    Q92466 Q01831 XPC    HPRD  PubMed  
    BioGRID:108010 BioGRID:114342 BANF1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108010 BioGRID:123555 CDT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108010 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108010 BioGRID:116176 COPS6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108010 BioGRID:114029 CUL4A    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108010 BioGRID:114028 CUL4B    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108010 BioGRID:122485 DDA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108010 BioGRID:108009 DDB1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex 
    BioGRID:108010 BioGRID:199074 Ddb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108010 BioGRID:108325 EMD    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108010 BioGRID:115301 RBX1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108010 BioGRID:114042 SUPT3H    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108010 BioGRID:115505 TOPORS    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108010 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108010 BioGRID:113345 XPC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108010 BioGRID:108822 XRCC6    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Cul4-DDB1-DDB2 complex, organism-specific biosystem (from KEGG)
      Cul4-DDB1-DDB2 complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Dual incision reaction in GG-NER, organism-specific biosystem (from REACTOME)
      Dual incision reaction in GG-NER, organism-specific biosystemDual incision at defined positions flanking the DNA damage is carried out by XPG (3' -incision) and ERCC1-XPF (5'-incision) complex. The resulting excised fragment is ~27-30 bp long and contains the...
    • Formation of incision complex in GG-NER, organism-specific biosystem (from REACTOME)
      Formation of incision complex in GG-NER, organism-specific biosystemBinding of XPC complex to the damaged site on the DNA substrate is followed by XPA and RPA recruitment. XPA is a metalloprotein that binds to different types of DNA damage. Binding of RPA, or Replic...
    • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
      Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
    • Nucleotide excision repair, organism-specific biosystem (from KEGG)
      Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Nucleotide excision repair, conserved biosystem (from KEGG)
      Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • p53 signaling pathway, organism-specific biosystem (from KEGG)
      p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
    • p53 signaling pathway, conserved biosystem (from KEGG)
      p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    damaged DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to ubiquitin-protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    		  
    nucleotide-excision repair TAS
    Traceable Author Statement
    more info
    		  
    nucleotide-excision repair, DNA damage removal TAS
    Traceable Author Statement
    more info
    		  
    protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    pyrimidine dimer repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    DNA damage-binding protein 2
    Names
    DNA damage-binding protein 2
    UV-DDB 2
    DDB p48 subunit
    UV-damaged DNA-binding protein 2
    damage-specific DNA-binding protein 2
    xeroderma pigmentosum group E protein
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    NCBI Reference Sequences (RefSeq)

    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_009365.1 RefSeqGene

      Range
      5001..29277
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000107.2 → NP_000098.1  DNA damage-binding protein 2

      Status: REVIEWED

      Source sequence(s)
      AA278953, DB053816, U18300
      Consensus CDS
      CCDS7927.1
      UniProtKB/Swiss-Prot
      Q92466
      Related
      ENSP00000256996, ENST00000256996
      Conserved Domains (1) summary
      cl02567
      Location:115 – 410
      Blast Score: 270
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      47236493..47260769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      46935465..46959749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC018410.24 (124086..147023) None
    genomic AC090589.9 (105431..106743) None
    genomic AY220533.1 AAO25655.1
    genomic CH471064.2 EAW67952.1
      EAW67953.1
      EAW67954.1
      EAW67955.1
      EAW67956.1
      EAW67957.1
      EAW67958.1
      EAW67959.1
    mRNA AA278953.1 None
    mRNA AB107037.1 BAD12557.1
    mRNA AB107038.1 BAD12558.1
    mRNA AB107039.1 BAD12559.1
    mRNA AB107040.1 BAD12560.1
    mRNA AK091640.1 None
    mRNA AK313262.1 BAG36072.1
    mRNA BC000093.2 AAH00093.1
    mRNA BC050455.1 None
    mRNA BT007139.1 AAP35803.1
    mRNA DB053816.1 None
    mRNA U18300.1 AAB07897.1
    other-genetic DQ890719.2 ABM81645.1
    other-genetic HQ447914.1 ADQ32398.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92466.1 GenPept UniProtKB/Swiss-Prot:Q92466
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    Additional Links

    Additional Links

    Gene LinkOut

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

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