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DDB2 Gene

protein-coding   GIFtS: 64
GCID: GC11P047237

Damage-Specific DNA Binding Protein 2, 48kDa

(Previous name: damage-specific DNA binding protein 2 (48kD))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Damage-Specific DNA Binding Protein 2, 48kDa1 2     Damage-Specific DNA Binding Protein 2 (48kD)1
DDB P48 Subunit1 2 3     DDBB2
UV-Damaged DNA-Binding Protein 21 2 3     UV-DDB22
Xeroderma Pigmentosum Group E Protein1 2     DNA Damage-Binding Protein 22
Damage-Specific DNA-Binding Protein 22 3     DDBb3
UV-DDB 22 3     

External Ids:    HGNC: 27181   Entrez Gene: 16432   Ensembl: ENSG000001345747   OMIM: 6008115   UniProtKB: Q924663   

Export aliases for DDB2 gene to outside databases

Previous GC identifers: GC11P049176 GC11P048114 GC11P047268 GC11P047200 GC11P047193 GC11P046935


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DDB2 Gene:
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)

GeneCards Summary for DDB2 Gene:
DDB2 (damage-specific DNA binding protein 2, 48kDa) is a protein-coding gene. Diseases associated with DDB2 include xeroderma pigmentosum, group e, ddb-negative subtype, and ddb2-related xeroderma pigmentosum. GO annotations related to this gene include damaged DNA binding and ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466
Function: Required for DNA repair. Binds to DDB1 to form the UV-damaged DNA-binding protein complex (the UV-DDB
complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision
repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane
pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to
function as the substrate recognition module for the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex
DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4-ROC1 complex may ubiquitinate
histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may
facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also
ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit
UV-damaged DNA repair

Gene Wiki entry for DDB2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the DDB2 gene promoter:
         Sox5   AP-1   AML1a   NF-E2 p45   Evi-1   RORalpha1   FOXO4   GCNF-1   GCNF-2   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDDB2 promoter sequence
   Search Chromatin IP Primers for DDB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DDB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p12-p11   Ensembl cytogenetic band:  11p11.2   HGNC cytogenetic band: 11p12-p11

DDB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DDB2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P047237:  view genomic region     (about GC identifiers)

Start:
47,236,493 bp from pter      End:
47,260,769 bp from pter
Size:
24,277 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466 (See protein sequence)
Recommended Name: DNA damage-binding protein 2  
Size: 427 amino acids; 47864 Da
Subunit: Component of the UV-DDB complex which includes DDB1 and DDB2. The UV-DDB complex interacts with
monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit. Component of the DCX (DDB1-CUL4-X-box) E3
ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1), which includes
CUL4A or CUL4B, DDB1, DDB2 and RBX1. DDB2 may function as the substrate recognition module within this complex.
The DDB1-CUL4-ROC1 complex may associate with the COP9 signalosome, and this inhibits the E3 ubiquitin-protein
ligase activity of the complex. A large number of other DCX complexes may also exist in which an alternate
substrate targeting subunit replaces DDB2. These targeting subunits are generally known as DCAF (DDB1- and
CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Isoform D1 and isoform D2 do not
interact with DDB1
4 PDB 3D structures from and Proteopedia for DDB2:
3EI4 (3D)        3I7L (3D)        4E54 (3D)        4E5Z (3D)    
Secondary accessions: B2R875 Q76E54 Q76E55 Q76E56 Q76E57
Alternative splicing: 5 isoforms:  Q92466-1   Q92466-2   Q92466-3   Q92466-4   Q92466-5   

Explore the universe of human proteins at neXtProt for DDB2: NX_Q92466

Explore proteomics data for DDB2 at MOPED

Post-translational modifications: 

  • Phosphorylation by ABL1 negatively regulate UV-DDB activity (By similarity)1
  • Ubiquitinated by CUL4A in response to UV irradiation. Ubiquitination appears to both impair DNA-binding and
    promotes ubiquitin-dependent proteolysis. Degradation of DDB2 at sites of DNA damage may be a prerequisite for
    their recognition by XPC and subsequent repair. CUL4A-mediated degradation appears to be promoted by ABL11
  • Ubiquitination2 at Lys151, Lys187, Lys278, Lys362
  • Modification sites at PhosphoSitePlus

  • See DDB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000098.1  
    ENSEMBL proteins: 
     ENSP00000256996   ENSP00000367866   ENSP00000367863   ENSP00000367864  
    Reactome Protein details: Q92466

    DDB2 Human Recombinant Protein Products:

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    Novus Biologicals DDB2 Proteins
    Novus Biologicals DDB2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DDB2

    DDB2 Antibody Products:

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    R&D Systems Antibodies for DDB2 (XPE/DDB2)
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    Cloud-Clone Corp. CLIAs for DDB2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q92466

    ProtoNet protein and cluster: Q92466

    UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466
    Domain: The DWD box is required for interaction with DDB1
    Domain: Interblade loops of the WD repeat region mediate most of the interaction with DNA. A hairpin between
    blades 5 and 6 inserts into DNA minor groove and mediates recognition of lesions and separation of the damaged
    and undamaged strands
    Similarity: Belongs to the WD repeat DDB2/WDR76 family
    Similarity: Contains 7 WD repeats


    DDB2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DDB2_HUMAN, Q92466
    Function: Required for DNA repair. Binds to DDB1 to form the UV-damaged DNA-binding protein complex (the UV-DDB
    complex). The UV-DDB complex may recognize UV-induced DNA damage and recruit proteins of the nucleotide excision
    repair pathway (the NER pathway) to initiate DNA repair. The UV-DDB complex preferentially binds to cyclobutane
    pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. Also appears to
    function as the substrate recognition module for the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex
    DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1). The DDB1-CUL4-ROC1 complex may ubiquitinate
    histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage. The ubiquitination of histones may
    facilitate their removal from the nucleosome and promote subsequent DNA repair. The DDB1-CUL4-ROC1 complex also
    ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. Isoform D1 and isoform D2 inhibit
    UV-damaged DNA repair
    Induction: Expression is induced in response to treatment with IR or UV and this requires p53/TP53 activity

         Genatlas biochemistry entry for DDB2:
    damage specific DNA binding protein 2,p48 subunit,absent from cell strains from individuals with XP-E,possibly
    involved in nucleotide excision repair

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8798680
    GO:0003684damaged DNA binding TAS8407967
    GO:0004842contributes to ubiquitin-protein ligase activity IDA12732143
    GO:0005515protein binding IPI12732143
         
    DDB2 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ddb2):
     cellular  growth/size/body  integument  mortality/aging  tumorigenesis 

    DDB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for DDB2: Ddb2tm1Pra Ddb2tm1Linn Ddb2tm1Vri

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DDB2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DDB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DDB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target DDB2:
    hsa-mir-26b-5p (MIRT029978), hsa-mir-155-5p (MIRT020865)

    Block miRNA regulation of human, mouse, rat DDB2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DDB2
    SwitchGear 3'UTR luciferase reporter plasmidDDB2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat DDB2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: DDB2 (NM_000107)
    Sino Biological Human cDNA Clone for DDB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DDB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DDB2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DDB2_HUMAN, Q92466: Nucleus. Note=Accumulates at sites of DNA damage following UV irradiation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0043234protein complex IDA12732143

    DDB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DDB2 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Dual incision reaction in GG-NER0.62
    Nucleotide excision repair0.69
    Formation of incision complex in GG-NER0.62
    2p53 signaling pathway
    DNA damage response0.41
    p53 signaling pathway0.41
    3DNA Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    4Class I MHC mediated antigen processing and presentation
    Ubiquitin mediated proteolysis0.35
    5Cell Cycle / Checkpoint Control
    DNA Damage0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for DDB2
        DNA Damage
    Protein Stability

    1 GeneGo (Thomson Reuters) Pathway for DDB2
        DNA damage Role of Brca1 and Brca2 in DNA repair

    2 BioSystems Pathways for DDB2
        DNA damage response
    Direct p53 effectors


    2 Reactome Pathways for DDB2
        Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


    4 Kegg Pathways  (Kegg details for DDB2):
        Nucleotide excision repair
    p53 signaling pathway
    Ubiquitin mediated proteolysis
    Hepatitis B

    UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466
    Pathway: Protein modification; protein ubiquitination


    DDB2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DDB2: 

              DNA Damage Signaling Pathway in human mouse rat
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Ubiquitin Ligases in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for DDB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DDB2 (Q924661, 3 ENSP000002569964) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    E2F1Q010941, 3, ENSP000003455714EBI-1176171,EBI-448924 I2D: score=4 STRING: ENSP00000345571
    CUL4AQ136191, 3, ENSP000003645894EBI-1176171,EBI-456106 I2D: score=3 STRING: ENSP00000364589
    DDB1Q165311, 3, ENSP000003017644EBI-1176171,EBI-350322 I2D: score=5 STRING: ENSP00000301764
    COPS5Q929053, ENSP000003505124I2D: score=2 STRING: ENSP00000350512
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA12732143
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006281DNA repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006290pyrimidine dimer repair IEA--

    DDB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DDB2

    1 HMDB Compound for DDB2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pyrimidine1,3-Diazabenzene (see all 10)25247-63-6--

    2 Novoseek inferred chemical compound relationships for DDB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cpds 70.6 1 17173070 (1)
    cisplatin 0 3 12170778 (2), 15833022 (1)



    DDB2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DDB2 gene: 
    NM_000107.2  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256996(uc001neb.2) ENST00000378603(uc009yli.1) ENST00000378600(uc001nee.2 uc001nef.2)
    ENST00000378601(uc001nec.2 uc001ned.2)
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      QuantiFast Probe-based Assays in human, mouse, rat DDB2

    Selected AceView cDNA sequences (see all 255):

    CR602652 CB529712 AW054854 CR623863 CR598131 AI913829 AB107039 BF591578 
    CR614544 BM783399 CR611357 AI337803 AI626048 BE551457 BE549910 AI091642 
    AX747106 BI868487 AI332703 CR624926 AK091640 BX401847 AW339919 AW247981 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DDB2 (see all 20)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3a · 3b · 3c · 3d · 3e · 3f ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a ·
    SP1:                                            -     -     -                                                     -                 -                           
    SP2:                                            -     -     -                             -     -     -     -     -                 -                           
    SP3:                                            -     -     -                                                     -                 -                       -   
    SP4:                                            -     -     -                                                     -     -     -     -                       -   
    SP5:                                                                                                              -                 -     -                     

    ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b
    SP1:        -                 -                                 
    SP2:        -                 -                                 
    SP3:  -     -                 -                                 
    SP4:  -     -                 -                                 
    SP5:        -                 -                                 


    ECgene alternative splicing isoforms for DDB2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DDB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGATCAAGTC
    DDB2 Expression
    About this image


    DDB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    DDB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DDB2 Protein Expression

    UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466
    Tissue specificity: Ubiquitously expressed; with highest levels in corneal endothelium and lowest levels in brain.
    Isoform D1 is highly expressed in brain and heart. Isoform D2, isoform D3 and isoform D4 are weakly expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDB2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ddb21 , 5 damage specific DNA binding protein 21, 5 82.98(n)1
    78.45(a)1
      2 (50.56 cM)5
    1079861  NM_028119.51  NP_082395.21 
     912115725 
    chicken
    (Gallus gallus)
    Aves DDB21 damage-specific DNA binding protein 2, 48kDa 66.2(n)
    61.67(a)
      423185  NM_001039301.1  NP_001034390.1 
    lizard
    (Anolis carolinensis)
    Reptilia DDB26
    damage-specific DNA binding protein 2, 48kDa
    42(a)
    1 ↔ 1
    1(43683048-43711020)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ddb21 damage-specific DNA binding protein 2, 48kDa 65.04(n)
    64.37(a)
      493565  NM_001008202.1  NP_001008203.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ddb21 damage-specific DNA binding protein 2 54.28(n)
    46.45(a)
      100004133  NM_001083061.1  NP_001076530.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DDB21 DDB2 45.62(n)
    34.47(a)
      835990  NM_125263.4  NP_200684.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g01417001 Os01g0141700 43.89(n)
    32.67(a)
      4325482  NM_001048520.1  NP_001041985.1 


    ENSEMBL Gene Tree for DDB2 (if available)
    TreeFam Gene Tree for DDB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DDB2 gene

    DDB2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DDB2
    PGOHUM00000242648


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DDB2 (see all 613)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0101424
    Xeroderma pigmentosum complementation group E (XP-E)4--see VAR_0101422 R H mis40--------
    VAR_0101414
    Xeroderma pigmentosum complementation group E (XP-E)4--see VAR_0101412 K E mis40--------
    rs107088911,2
    C--46945777(+) TCTTT-/AAAAAA 1 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs1480135131,2
    C--46950587(+) ACTTT-/GGGACGT
    TGAGGTGGAA
    GGATT
    1 -- int10--------
    rs105449421,2
    C--46954241(+) ATCTC-/A/AA  
            
    AAAAA
    1 -- int11CSA 2
    rs1409973611,2
    C--46954241(+) ATCTC-/AAAAAAA 1 -- int10--------
    rs1898076251,2
    --47160187(+) GCAATA/GCCTGA 1 -- us2k10--------
    rs125780301,2
    C,F,H--47160260(+) AGGCTA/GGGCAG 1 -- us2k111Minor allele frequency- G:0.07NA EA CSA WA 730
    rs1136272371,2
    C,F--47160278(+) CGGCCG/TCACCT 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs1909791961,2
    C--47160301(+) GACTTA/GGACTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DDB2 (47236493 - 47260769 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DDB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv897323CNV Loss21882294

    Human Gene Mutation Database (HGMD): DDB2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing DDB2
    DNA2.0 Custom Variant and Variant Library Synthesis for DDB2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600811   
    OMIM disorders: 278740  
    UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466
  • Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]: An autosomal recessive pigmentary skin
    disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas
    exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other
    pigmentation abnormalities. XP-E patients show a mild phenotype with minimal or no neurologic features. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DDB2 (see all 23):    
    About MalaCards
    xeroderma pigmentosum, group e, ddb-negative subtype    ddb2-related xeroderma pigmentosum    xeroderma pigmentosum, group c    xeroderma pigmentosum
    progressive supranuclear palsy    cockayne syndrome    autosomal recessive disease    malignant glioma
    hepatitis b    retinoblastoma    tonsillitis    multiple sclerosis
    melanoma    lung cancer    ovarian cancer    chronic lymphocytic leukemia
    breast cancer    hepatitis    hiv-1    multiple myeloma

    3 diseases from the University of Copenhagen DISEASES database for DDB2:
    Xeroderma pigmentosum     Cockayne syndrome     Skin cancer

    DDB2 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for DDB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum, complementation group e 95.2 5 12170778 (1), 19541625 (1), 10771487 (1), 12773817 (1) (see all 5)
    xeroderma pigmentosum 87.9 21 10771487 (2), 12509284 (1), 11971958 (1), 15558025 (1) (see all 17)
    skin cancer 54.2 5 18996499 (2), 12509284 (1)
    tumors 26.5 8 18431487 (3), 14769931 (1), 15558025 (1), 16288018 (1) (see all 5)
    cancer 13.4 3 16288018 (1), 18431487 (1), 18593899 (1)
    breast cancer 4.54 9 19339246 (4), 18431487 (3)
    carcinoma squamous cell 0 1 16288018 (1)
    cancer lung 0 7 16522664 (3), 16550608 (2)
    melanoma 0 2 16888633 (1), 17597816 (1)

    GeneTests: DDB2
    GeneReviews: DDB2
    Genetic Association Database (GAD): DDB2
    Human Genome Epidemiology (HuGE) Navigator: DDB2 (8 documents)

    Export disorders for DDB2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DDB2 gene, integrated from 10 sources (see all 182):
    (articles sorted by number of sources associating them with DDB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization and cDNA cloning of the genes (DDB1 and DDB2) for the p127 and p48 subunits of a human damage-specific DNA binding protein. (PubMed id 8530102)1, 2, 3 Dualan R.... Linn S. (Genomics 1995)
    2. Cullin 4A-mediated proteolysis of DDB2 protein at DNA damage sites regulates in vivo lesion recognition by XPC. (PubMed id 16527807)1, 2, 9 El-Mahdy M.A....Wani A.A. (J. Biol. Chem. 2006)
    3. Xeroderma pigmentosum complementation group E protein (XPE/DDB2): purification of various complexes of XPE and analyses of their damaged DNA binding and putative DNA repair properties. (PubMed id 16260596)1, 2, 9 Kulaksiz G.... Sancar A. (Mol. Cell. Biol. 2005)
    4. Polymorphisms in DNA damage binding protein 2 (DDB2) and susceptibility of primary lung cancer in the Chinese: a case-control study. (PubMed id 16522664)1, 4, 9 Hu Z....Shen H. (Carcinogenesis 2006)
    5. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PubMed id 18593899)1, 2, 9 Guerrero-Santoro J.... Rapic-Otrin V. (Cancer Res. 2008)
    6. The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. (PubMed id 16473935)1, 2, 9 Kapetanaki M.G.... Levine A.S. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    7. DDB1-DDB2 (xeroderma pigmentosum group E) protein complex recognizes a cyclobutane pyrimidine dimer, mismatches, apurinic/apyrimidinic sites, and compound lesions in DNA. (PubMed id 16223728)1, 2, 9 Wittschieben B.O.... Wood R.D. (J. Biol. Chem. 2005)
    8. Structural basis of UV DNA-damage recognition by the DDB1-DDB2 complex. (PubMed id 19109893)1, 2, 9 Scrima A.... Thoma N.H. (Cell 2008)
    9. In vivo recruitment of XPC to UV-induced cyclobutane pyrimidine dimers by the DDB2 gene product. (PubMed id 12944386)1, 2, 9 Fitch M.E.... Ford J.M. (J. Biol. Chem. 2003)
    10. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1643 HGNC: 2718 AceView: DDB2 Ensembl:ENSG00000134574 euGenes: HUgn1643
    ECgene: DDB2 Kegg: 1643 H-InvDB: DDB2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DDB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DDB2 Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DDB2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ddb2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DDB2 gene:
    Search GeneIP for patents involving DDB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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