DDB2 Gene
protein-coding GIFtS : 62
GCID: GC11 P047237
damage-specific DNA binding protein 2, 48kDa (Previous name: damage-specific DNA binding protein 2 (48kD) )
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Aliasesfor DDB2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Damage-Specific DNA Binding Protein 2, 48kDa 1 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
Export aliases for DDB2 gene to outside databases Previous GC identifers: GC11P049176 GC11P048114 GC11P047268 GC11P047200 GC11P047193 GC11P046935
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Summariesfor DDB2 gene (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-DDBcomplex). 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
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Genomic Viewsfor 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 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 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) 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
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Proteinsfor DDB2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
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 withmonoubiquitinated 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 Q76E57Alternative 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 PhosphoSitePlus 2 View neXtProt modification sites for NX_Q92466 DDB2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000098.1 ENSEMBL proteins: ENSP00000256996 ENSP00000367866 ENSP00000367863 ENSP00000367864 Reactome Protein details: Q92466 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
DDB2 for ontologies About GeneDecksing DDB2 Antibody Products: Assay Products for DDB2:
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Protein
Domains / Familiesfor DDB2 gene (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 :
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 DDB1Similarity : Belongs to the WD repeat DDB2/WDR76 familySimilarity : Contains 5 WD repeats
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Functionfor DDB2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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-DDBcomplex). 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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for DDB2 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for DDB2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: DDB2 (NM_000107 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DDB2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat DDB2
In Situ Assay Products: 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
DDB2 for ontologies About GeneDecksing Animal Models: Mouse knock-outs for DDB2: Ddb2 tm1Pra Ddb2 tm1Linn Ddb2 tm1Vri 5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ddb2) :
DDB2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor DDB2 gene
(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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
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 8 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Global Genomic NER (GG-NER) 2 Nucleotide Excision Repair 3 p53 signaling pathway 4 Formation of RNA Pol II elongation complex 5 Protein Stability
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for DDB2 2
Cell Signaling Technology (CST) Pathways for DDB2 1 GeneGo (Thomson Reuters) Pathway for DDB2 2 BioSystems Pathways for DDB2 5
Reactome Pathways for DDB2 3
Kegg Pathways (Kegg details for DDB2) :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 (Q92466 1 , 3 ENSP00000256996 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 39 )
Interactant Interaction Details GeneCard External ID(s) E2F1 Q01094 1 , 3 , ENSP00000345571 4 EBI-1176171,EBI-448924 I2D:
score=4 STRING: ENSP00000345571 CUL4A Q13619 1 , 3 , ENSP00000364589 4 EBI-1176171,EBI-456106 I2D:
score=3 STRING: ENSP00000364589 DDB1 Q16531 1 , 3 , ENSP00000301764 4 EBI-1176171,EBI-350322 I2D:
score=5 STRING: ENSP00000301764 COPS5 Q92905 3 , ENSP00000350512 4 I2D:
score=2 STRING: ENSP00000350512 ABL1 P00519 3 , ENSP00000361423 4 I2D:
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
DDB2 for ontologies About GeneDecksing
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Drugs & Compoundsfor DDB2 gene (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 Tocris compounds for DDB2 1 HMDB Compound for DDB2 About this table 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
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Transcriptsfor DDB2 gene (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 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for DDB2 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for DDB2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: DDB2 (NM_000107 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DDB2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat DDB2
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
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Expression for DDB2 gene
(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 image BioGPS CGAP TAG: GGATCAAGTC
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 Name Category PureStem™ progenitor W8 (Embryonic Progenitor Cell)Expression: Positive Negative
Selective markerExperimental 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 : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for DDB2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat DDB2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat DDB2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat DDB2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDB2
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Orthologsfor DDB2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl 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
ENSEMBL Gene Tree for DDB2 (if available)TreeFam Gene Tree for DDB2 (if available)
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Paralogsfor DDB2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for DDB2 gene
DDB2 for paralogs About GeneDecksing 1 Pseudogenes.org Pseudogene for DDB2 PGOHUM00000242648
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Genomic Variantsfor DDB2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 11 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
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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Disorders
/ Diseasesfor DDB2 gene
(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
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Publicationsfor DDB2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
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
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) 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) 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) 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) 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) 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) 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) 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) 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) 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)
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External Searches for DDB2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing DDB2 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing DDB2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing DDB2 gene (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
Name Description
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 genes http://www.xpmutations.org/ GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DDB2 NIEHS-SNPs http://egp.gs.washington.edu/data/ddb2/
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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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Productsfor DDB2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for DDB2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for DDB2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for DDB2 OriGene Protein Over-expression Lysate for DDB2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for DDB2 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for DDB2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for DDB2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for DDB2 OriGene Custom Protein Services for DDB2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DDB2 Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DDB2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat DDB2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat DDB2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat DDB2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat DDB2
Antibodies & Assays for DDB2  
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DDB2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DDB2
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat DDB2
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