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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DDB2 Gene

protein-coding   GIFtS: 62
GCID: GC11P047237

damage-specific DNA binding protein 2, 48kDa

(Previous name: damage-specific DNA binding protein 2 (48kD) )
 Explore 21 diseases affiliated with
DDB2 via our new
 Human Malady Compendium 
Biological research products
for DDB2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Damage-Specific DNA Binding Protein 2, 48kDa1 2     UV-DDB 22 3
DDBB1 2     FLJ343211
UV-DDB21 2     Damage-Specific DNA Binding Protein 2 (48kD)1
Damage-Specific DNA-Binding Protein 22 3     DNA Damage-Binding Protein 22
DDB P48 Subunit2 3     Xeroderma Pigmentosum Group E Protein2
UV-Damaged DNA-Binding Protein 22 3     DDBb3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DDB2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DDB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus. Note=Accumulates at sites of DNA damage following UV irradiation
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92466

  • DDB2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000098.1  
    ENSEMBL proteins: 
     ENSP00000256996   ENSP00000367866   ENSP00000367863   ENSP00000367864  
    Reactome Protein details: Q92466
    Human Recombinant Protein Products: 
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    Novus Biologicals DDB2 Proteins
    Novus Biologicals DDB2 Lysate
    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for DDB2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    DDB2 for ontologies           About GeneDecksing



    DDB2 Antibody Products: 
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    Uscn ELISAs and CLIAs for DDB2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DDB2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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
    Similarity: Belongs to the WD repeat DDB2/WDR76 family
    Similarity: Contains 5 WD repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDB2

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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 IPI19109893


    DDB2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for DDB2: Ddb2tm1Pra Ddb2tm1Linn Ddb2tm1Vri
         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ddb2):
     cellular  growth/size  integument  mortality/aging  tumorigenesis 

    DDB2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)1.00
    Dual incision reaction in GG-NER0.61
    Nucleotide excision repair0.70
    Formation of incision complex in GG-NER0.61
    2Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    3p53 signaling pathway
    p53 signaling pathway1.00
    DNA damage response0.40
    4Formation of RNA Pol II elongation complex
    DNA damage_Role of Brca1 and Brca2 in DNA repair0.17
    DNA damage Role of Brca1 and Brca2 in DNA repair0.17
    5Protein Stability
    Protein Stability1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DDB2
        DNA damage Role of Brca1 and Brca2 in DNA repair


    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

    5        Reactome Pathways for DDB2
        DNA Repair
    Global Genomic NER (GG-NER)
    Nucleotide Excision Repair
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER


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

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


    DDB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DDB2

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

    5/39 Interacting proteins for DDB2 (Q924661, 3 ENSP000002569964) via UniProtKB, MINT, STRING, and/or I2D (see all 39)

    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): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DDB2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about DDB2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DDB2 gene: 
    NM_000107.2  

    Unigene Cluster for DDB2:

    Damage-specific DNA binding protein 2, 48kDa
    Hs.700338  [show with all ESTs]
    Unigene Representative Sequence: NM_000107
    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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    Additional cDNA sequence: 

    AB107037.1 AB107039.1 AK313262.1 BC000093.2 BT007139.1 U18300.1 

    24 DOTS entries:

    DT.100812796  DT.100812794  DT.92450337  DT.99953717  DT.101988018  DT.95371008  DT.120730553  DT.95371004 
    DT.92450328  DT.100812795  DT.115819  DT.120730666  DT.92450336  DT.97763370  DT.120730560  DT.100812785 
    DT.75165193  DT.91951835  DT.91975281  DT.95257132  DT.99992095  DT.100812792  DT.120730619  DT.453062 

    24/255 AceView cDNA sequences (see all 255):

    CB529712 BM783399 CR624926 BX401847 AK091640 CR611357 AI091642 AI913829 
    BC050455 AX747106 AW247981 AI626048 BI868487 AW054854 CR623863 AW339919 
    AI332703 AB107039 CR598131 CR614544 CR602652 AI337803 BF591578 BE551457 

    GeneLoc Exon Structure

    5/20 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DDB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGATCAAGTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    DDB2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DDB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DDB2

    SOURCE GeneReport for Unigene cluster: Hs.700338

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including DDB2: 
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DDB2 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DDB21 damage-specific DNA binding protein 2, 48kDa 62.32(n)
    56.87(a)
      423185  NM_001039301.1  NP_001034390.1 
    lizard
    (Anolis carolinensis)
    Reptilia DDB26
    --
    61(a)
    1 ↔ 1
    1(43696096-43710813)
    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 DNA damage-binding protein 2 45.81(n)
    32.78(a)
      835990  NM_125263.4  NP_200684.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g01417001 hypothetical protein 44.37(n)
    33.45(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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/471 NCBI SNPs in DDB2 are shown (see all 471    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1136272371,2
    --46933589(+) CGGCCG/TCACCT 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs127902391,2
    H--46934387(+) TAAAAA/CCAGCC 1 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 406
    rs110391331,2
    H--46934580(+) CAGGTC/TTGCAA 1 -- us2k1 tfbs34Minor allele frequency- T:0.00NS EA 420
    rs1996930681,2
    C--46934729(-) TTGCCC/TTTTTT 1 -- us2k10--------
    rs122846721,2
    C,F,H,--46934890(+) CTACAC/ACCTGT 1 -- us2k112Minor allele frequency- A:0.11NS EA NA WA 1312
    rs46477061,2
    F,H--46935402(+) GGAGCG/TCTGGC 1 -- us2k15Minor allele frequency- T:0.01NS EA 590
    rs46477071,2
    C,F,H,--46935540(+) GCTTAG/ACTCGG 1 -- ut5117Minor allele frequency- A:0.14NS EA NA WA 1512
    rs46477091,2
    C,F,H,--46936331(+) GGGTCC/TTCAAA 1 -- int124Minor allele frequency- T:0.03NS EA NA 2796
    rs22911201,2
    C,F,O,H,--46936652(+) NNNNTT/CGTGGG 1 -- int126Minor allele frequency- C:0.05EA NS NA 4294
    rs563108301,2
    C,F,--46936775(+) CCGAAT/GGAAAC 1 -- int11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for DDB2 (47236493 - 47260769 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DDB2: --
    Human Gene Mutation Database (HGMD): DDB2

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    DDB2 for disorders           About GeneDecksing

    OMIM gene information: 600811   
    OMIM disorders: 278740  
    UniProtKB/Swiss-Prot: DDB2_HUMAN, Q92466
  • Defects in DDB2 are a cause of xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]; also known
  • as xeroderma pigmentosum V (XP5). XP-E is a rare human autosomal recessive disease characterized by solar sensitivity,
    high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities

    20/21 diseases for DDB2 (see all 21):    About MalaCards
    xeroderma pigmentosum    xeroderma pigmentosum, group e, ddb-negative subtype    skin cancer    xeroderma pigmentosum, group c
    photosensitive trichthiodystrophy    supranuclear palsy    progressive supranuclear palsy    autosomal recessive disease
    epithelial ovarian cancer    cockayne syndrome    malignant glioma    multiple sclerosis
    ovarian cancer    hepatitis b    breast cancer    retinoblastoma
    melanoma    lung cancer    hepatitis    immunodeficiency

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

    9 Novoseek 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
    Xeroderma Pigmentosum

    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)
    About This Section

    PubMed articles for DDB2 gene, integrated from 9 sources (see all 173):
    (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. (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. (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. (2005)
    4. 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. (2008)
    5. 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. (2006)
    6. 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. (2005)
    7. 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. (2003)
    8. Histone H3 and H4 ubiquitylation by the CUL4-DDB-ROC1 ubiquitin ligase facilitates cellular response to DNA damage. (PubMed id 16678110)1, 2 Wang H.... Zhang Y. (2006)
    9. A kinase-independent function of c-Abl in promoting proteolytic destruction of damaged DNA binding proteins. (PubMed id 16713579)1, 2 Chen X.... Zhou P. (2006)
    10. CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation. (PubMed id 17041588)1, 2 Higa L.A.... Zhang H. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1643 HGNC: 2718 AceView: DDB2 Ensembl:ENSG00000134574 euGenes: HUgn1643
    ECgene: DDB2 Kegg: 1643 H-InvDB: DDB2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/DDB2
    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.)
    About This Section
    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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