DDB2 Gene (Protein Coding)

Damage Specific DNA Binding Protein 2

GC11P047237
GIFtS:
45
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 DN... See more...

Aliases for DDB2 Gene

Aliases for DDB2 Gene

  • Damage Specific DNA Binding Protein 2 2 3 5
  • UV-Damaged DNA-Binding Protein 2 2 3 4
  • DDB P48 Subunit 2 3 4
  • Xeroderma Pigmentosum Group E Protein 2 3
  • DNA Damage-Binding Protein 2 3 4
  • UV-DDB 2 3 4
  • UV-DDB2 2 3
  • DDBB 2 3
  • XPE 2 3
  • Damage-Specific DNA Binding Protein 2 (48kD) 2
  • Damage-Specific DNA Binding Protein 2, 48kDa 3
  • Damage-Specific DNA-Binding Protein 2 4
  • FLJ34321 2
  • DDB2 5
  • DDBb 4

External Ids for DDB2 Gene

Previous GeneCards Identifiers for DDB2 Gene

  • GC11P049176
  • GC11P048114
  • GC11P047268
  • GC11P047200
  • GC11P047193
  • GC11P046935

Summaries for DDB2 Gene

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

GeneCards Summary for DDB2 Gene

DDB2 (Damage Specific DNA Binding Protein 2) is a Protein Coding gene. Diseases associated with DDB2 include Xeroderma Pigmentosum, Complementation Group E and Xeroderma Pigmentosum Group E. Among its related pathways are Transcriptional misregulation in cancer and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and damaged DNA binding.

UniProtKB/Swiss-Prot Summary for DDB2 Gene

  • Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:9892649, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386, PubMed:14751237). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:16473935). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:16473935). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825).
  • [Isoform D1]: Inhibits UV-damaged DNA repair.
  • [Isoform D2]: Inhibits UV-damaged DNA repair.

Gene Wiki entry for DDB2 Gene

Additional gene information for DDB2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DDB2 Gene

Genomics for DDB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DDB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DDB2

Top Transcription factor binding sites by QIAGEN in the DDB2 gene promoter:
  • AML1a
  • AP-1
  • Evi-1
  • FOXO4
  • GCNF-1
  • GCNF-2
  • NF-E2
  • NF-E2 p45
  • RORalpha1
  • Sox5

Genomic Locations for DDB2 Gene

Genomic Locations for DDB2 Gene
chr11:47,214,465-47,239,218
(GRCh38/hg38)
Size:
24,754 bases
Orientation:
Plus strand
chr11:47,236,493-47,260,769
(GRCh37/hg19)
Size:
24,277 bases
Orientation:
Plus strand

Genomic View for DDB2 Gene

Genes around DDB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DDB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DDB2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DDB2 Gene

Proteins for DDB2 Gene

Products:

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  • Protein details for DDB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92466-DDB2_HUMAN
    Recommended name:
    DNA damage-binding protein 2
    Protein Accession:
    Q92466
    Secondary Accessions:
    • B2R875
    • Q76E54
    • Q76E55
    • Q76E56
    • Q76E57

    Protein attributes for DDB2 Gene

    Size:
    427 amino acids
    Molecular mass:
    47864 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for DDB2 Gene

    Alternative splice isoforms for DDB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DDB2 Gene

Protein Expression for DDB2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DDB2 Gene

  • Phosphorylation by ABL1 negatively regulate UV-DDB activity.
  • 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 ABL1.
  • Ubiquitinated, leading to proteasomal degradation, and deubiquitinated by USP24.
  • Ubiquitination at Lys187, Lys151, Lys362, and Lys278
  • Modification sites at PhosphoSitePlus

Other Protein References for DDB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDB2 Gene

Domains & Families for DDB2 Gene

Gene Families for DDB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DDB2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDB2 Gene

GenScript: Design optimal peptide antigens:
  • UV-damaged DNA-binding protein 2 (DDB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92466

UniProtKB/Swiss-Prot:

DDB2_HUMAN :
  • The DWD box is required for interaction with DDB1.
  • Belongs to the WD repeat DDB2/WDR76 family.
Domain:
  • The DWD box is required for interaction with DDB1.
  • 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.
Family:
  • Belongs to the WD repeat DDB2/WDR76 family.
genes like me logo Genes that share domains with DDB2: view

Function for DDB2 Gene

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Molecular function for DDB2 Gene

UniProtKB/Swiss-Prot Function:
Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:9892649, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386, PubMed:14751237). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:16473935). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:16473935). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825).
UniProtKB/Swiss-Prot Function:
[Isoform D1]: Inhibits UV-damaged DNA repair.
UniProtKB/Swiss-Prot Function:
[Isoform D2]: Inhibits UV-damaged DNA repair.
UniProtKB/Swiss-Prot Induction:
Expression is induced in response to treatment with IR or UV and this requires p53/TP53 activity.
GENATLAS Biochemistry:
damage specific DNA binding protein 2,p48 subunit,absent from cell strains from individuals with XP-E,possibly involved in nucleotide excision repair

Phenotypes From GWAS Catalog for DDB2 Gene

Gene Ontology (GO) - Molecular Function for DDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 8798680
GO:0003684 contributes_to damaged DNA binding IEA,IDA 22334663
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 12732143
GO:0005515 protein binding IPI 9418871
GO:0044877 protein-containing complex binding IPI 11564863
genes like me logo Genes that share ontologies with DDB2: view
genes like me logo Genes that share phenotypes with DDB2: view

Human Phenotype Ontology for DDB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DDB2 Gene

MGI Knock Outs for DDB2:

Animal Model Products

CRISPR Products

miRNA for DDB2 Gene

miRTarBase miRNAs that target DDB2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDB2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DDB2 Gene

Localization for DDB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDB2 Gene

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DDB2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0030054 cell junction IDA --
GO:0031465 Cul4B-RING E3 ubiquitin ligase complex IDA 22334663
GO:0032991 protein-containing complex IDA 12732143
genes like me logo Genes that share ontologies with DDB2: view

Pathways & Interactions for DDB2 Gene

genes like me logo Genes that share pathways with DDB2: view

Pathways by source for DDB2 Gene

1 GeneGo (Thomson Reuters) pathway for DDB2 Gene
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
1 Cell Signaling Technology pathway for DDB2 Gene

UniProtKB/Swiss-Prot Q92466-DDB2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for DDB2 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 12732143
GO:0000715 nucleotide-excision repair, DNA damage recognition TAS --
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair IEA,IBA 21873635
GO:0006289 nucleotide-excision repair TAS 8407967
genes like me logo Genes that share ontologies with DDB2: view

Drugs & Compounds for DDB2 Gene

Products:

  1. Drug

(1) Drugs for DDB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for DDB2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Pyrimidine
  • 1,3-Diazin
  • 1,3-Diazine
  • m-Diazine
  • Metadiazine
  • Pyrimidin
 25247-63-6
genes like me logo Genes that share compounds with DDB2: view

Transcripts for DDB2 Gene

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mRNA/cDNA for DDB2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDB2

Alternative Splicing Database (ASD) splice patterns (SP) for DDB2 Gene

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: - - -
SP6: - - - - - - - -
SP7: - - - - - - - - - - -
SP8: -
SP9:
SP10: - - - - - - - -
SP11: - - -
SP12: - - -
SP13: - -
SP14: - -
SP15: - - - - - - -
SP16: - - - - - -
SP17: - -
SP18: - - - -
SP19:
SP20: -

ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - -
SP6:
SP7: - - - - -
SP8: -
SP9: - - -
SP10: - - - - -
SP11: - - - - -
SP12: - - - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:

Relevant External Links for DDB2 Gene

GeneLoc Exon Structure for
DDB2

Expression for DDB2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DDB2 Gene

mRNA expression in normal human tissues for DDB2 Gene
mRNA expression by BioGPS for DDB2 GenemRNA expression by GTEx for DDB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DDB2 Gene

This gene is overexpressed in Testis (21.7) and Blymphocyte (20.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DDB2 Gene



Protein tissue co-expression partners for DDB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DDB2

SOURCE GeneReport for Unigene cluster for DDB2 Gene:

Hs.700338

mRNA Expression by UniProt/SwissProt for DDB2 Gene:

Q92466-DDB2_HUMAN
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.

Evidence on tissue expression from TISSUES for DDB2 Gene

  • Skin(4.7)
  • Nervous system(4.6)
  • Lung(2.6)
  • Liver(2.5)
  • Intestine(2.5)
  • Blood(2.4)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DDB2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
General:
  • blood vessel
  • skin
genes like me logo Genes that share expression patterns with DDB2: view

No data available for mRNA differential expression in normal tissues for DDB2 Gene

Orthologs for DDB2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DDB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DDB2 30 31
  • 99.92 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DDB2 30 31
  • 90.06 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DDB2 30 31
  • 88.97 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ddb2 30
  • 83.25 (n)
Mouse
(Mus musculus)
 Mammalia Ddb2 30 17 31
  • 82.98 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DDB2 31
  • 71 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 68 (a)
 OneToMany
-- 31
  • 65 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves DDB2 30 31
  • 66.2 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DDB2 31
  • 42 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ddb2 30
  • 65.04 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ddb2 30 31
  • 54.28 (n)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons DDB2 30
  • 45.62 (n)
Rice
(Oryza sativa)
 Liliopsida Os01g0141700 30
  • 43.89 (n)
Species where no ortholog for DDB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DDB2 Gene

ENSEMBL:
Gene Tree for DDB2 (if available)
TreeFam:
Gene Tree for DDB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DDB2: view image

Paralogs for DDB2 Gene

Pseudogenes.org Pseudogenes for DDB2 Gene

genes like me logo Genes that share paralogs with DDB2: view

No data available for Paralogs for DDB2 Gene

Variants for DDB2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DDB2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
635330 Likely Pathogenic: Xeroderma pigmentosum, group E, DDB-negative subtype 47,234,779(+) AAAAG/A NONSENSE,INTRON_VARIANT
695307 Conflicting Interpretations: Xeroderma pigmentosum, group E; not provided 47,215,268(+) T/G INTRON_VARIANT
709070 Likely Benign: not provided 47,234,576(+) C/A SYNONYMOUS_VARIANT,INTRON_VARIANT
712077 Likely Benign: not provided 47,234,614(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
730007 Likely Benign: not provided 47,232,840(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for DDB2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DDB2 Gene

Variant ID Type Subtype PubMed ID
esv3626199 CNV loss 21293372

Variation tolerance for DDB2 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.05; 21.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDB2 Gene

Human Gene Mutation Database (HGMD)
DDB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DDB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDB2 Gene

Disorders for DDB2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for DDB2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, complementation group e
  • xpe
xeroderma pigmentosum group e
  • xeroderma pigmentosum, complementation group e
xeroderma pigmentosum, variant type
  • xpv
skin carcinoma
  • carcinoma of skin
cockayne syndrome
  • cs
- elite association - COSMIC cancer census association via MalaCards
Search DDB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DDB2_HUMAN
  • 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. {ECO:0000269 PubMed:8798680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DDB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with DDB2: view

No data available for Genatlas for DDB2 Gene

Publications for DDB2 Gene

  1. The cullin 4B-based UV-damaged DNA-binding protein ligase binds to UV-damaged chromatin and ubiquitinates histone H2A. (PMID: 18593899) Guerrero-Santoro J … Rapić-Otrin V (Cancer research 2008) 3 4 23
  2. Structural basis of UV DNA-damage recognition by the DDB1-DDB2 complex. (PMID: 19109893) Scrima A … Thomä NH (Cell 2008) 3 4 23
  3. Cullin 4A-mediated proteolysis of DDB2 protein at DNA damage sites regulates in vivo lesion recognition by XPC. (PMID: 16527807) El-Mahdy MA … Wani AA (The Journal of biological chemistry 2006) 3 4 23
  4. The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites. (PMID: 16473935) Kapetanaki MG … Levine AS (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 23
  5. Polymorphisms in DNA damage binding protein 2 (DDB2) and susceptibility of primary lung cancer in the Chinese: a case-control study. (PMID: 16522664) Hu Z … Shen H (Carcinogenesis 2006) 3 23 41

ExternalLinks

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Products for DDB2 Gene

  • Signalway Proteins for DDB2

Sources for DDB2 Gene