Aliases for DDB2 Gene
Aliases for DDB2 Gene
External Ids for DDB2 Gene
- HGNC: 2718
- Entrez Gene: 1643
- Ensembl: ENSG00000134574
- OMIM: 600811
- UniProtKB: Q92466
Previous GeneCards Identifiers for DDB2 Gene
- GC11P049176
- GC11P048114
- GC11P047268
- GC11P047200
- GC11P047193
- GC11P046935
Summaries 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 Gene Expression and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and damaged DNA binding.
UniProtKB/Swiss-Prot for DDB2 Gene
-
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.
Additional gene information for DDB2 Gene
- Monarch Initiative
- Search for DDB2 at DataMed
- Search for DDB2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDB2 Gene
Genomics for DDB2 Gene
GeneHancer (GH) Regulatory Elements for DDB2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DDB2 gene promoter:
-
- AML1a
- FOXO4
- RORalpha1
- AP-1
- NF-E2 p45
- NF-E2
- Evi-1
- Sox5
- GCNF-1
- GCNF-2
Regulatory Element Products
Genomic Locations for DDB2 Gene
Genomic Locations for DDB2 Gene
- chr11:47,214,465-47,239,240
- (GRCh38/hg38)
- Size:
- 24,776 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:
-
- 11p11.2 by Entrez Gene
- 11p11.2 by HGNC
- 11p11.2 by Ensembl
DDB2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DDB2 Gene
Proteins for DDB2 Gene
-
Protein details for DDB2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q92466-DDB2_HUMAN
- Recommended name:
- DNA damage-binding protein 2
- Protein Accession:
- Q92466
- 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
Protein Expression for DDB2 Gene
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 Lys362, posLast=278278, Lys187, and posLast=151151
- Modification sites at PhosphoSitePlus
Other Protein References for DDB2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for DDB2 (XPE/DDB2)
- Novus Biologicals Antibodies for DDB2
-
Abcam antibodies for DDB2
- Invitrogen Antibodies for DDB2 (AFLGC-DDB2)
- GeneTex DDB2 Antibody for DDB2
-
Santa Cruz Biotechnology (SCBT) Antibodies for DDB2
- Sino Biological Antibodies for DDB2
Protein Products
-
OriGene Purified Proteins for DDB2
- Search Origene for MassSpec and Protein Over-expression Lysates for DDB2
- Origene Custom Protein Services for DDB2
- Search GeneTex for Proteins for DDB2
-
Abcam proteins for DDB2
Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q92466UniProtKB/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.
Function for DDB2 Gene
Molecular function for DDB2 Gene
- UniProtKB/Swiss-Prot 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.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | TAS | 8798680 |
| GO:0003684 | contributes_to damaged DNA binding | IDA,IEA | 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 |
Phenotypes for DDB2 Gene
- MGI mutant phenotypes for DDB2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for DDB2:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased G1 length, increased G2 length
- Decreased viability with TRAIL
- Decreased viability
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
Animal Models for DDB2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DDB2
-
CRISPR Products
-
OriGene CRISPR knockouts for DDB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DDB2
- genomics-online: gRNA clones - Search results for 84 available DDB2 gene related products
- Overview of 84 available DDB2 gene related products
- Applied Biological Materials CRISPR for DDB2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DDB2
- GenScript: Design CRISPR guide RNA sequences for DDB2
miRNA for DDB2 Gene
- miRTarBase miRNAs that target DDB2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DDB2
- Browse OriGene Inhibitory RNA Products For DDB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDB2
- genomics-online: shRNA clones - Search results for 84 available DDB2 gene related products
- Overview of 84 available DDB2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DDB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DDB2
- Applied Biological Materials Clones for DDB2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nucleoplasm (3)
- Cell Junctions (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| 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 |
Pathways & Interactions for DDB2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Endometrial cancer |
.36
|
|
| 2 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
| 3 | Gastric cancer |
.62
.62
|
|
| 4 | Glioma |
.52
|
.47
|
| 5 | DNA Damage Response | ||
Pathways by source for DDB2 Gene
3 BioSystems pathways for DDB2 Gene
14 Reactome pathways for DDB2 Gene
19 KEGG pathways for DDB2 Gene
1 GeneGo (Thomson Reuters) pathway for DDB2 Gene
1 Cell Signaling Technology pathway for DDB2 Gene
UniProtKB/Swiss-Prot Q92466-DDB2_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for DDB2 Gene
Selected Interacting proteins:
Q92466-DDB2_HUMAN
ENSP00000256996
for DDB2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for DDB2
SIGNOR curated interactions 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 | TAS,IEA | 8798680 |
| GO:0006289 | nucleotide-excision repair | TAS | 8407967 |
Transcripts for DDB2 Gene
mRNA/cDNA for DDB2 Gene
- (2) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (255) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000622878 556 bps (uc058bbj.1)
- ENST00000614825 852 bps (uc058bbk.1)
- ENST00000256996 1870 bps (uc001neb.3)
- ENST00000378601 1591 bps (uc058bbl.1)
- ENST00000622090 580 bps (uc058bbm.1)
Unigene Clusters for DDB2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DDB2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DDB2
- genomics-online: gRNA clones - Search results for 84 available DDB2 gene related products
- Overview of 84 available DDB2 gene related products
- Applied Biological Materials CRISPR for DDB2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DDB2
- GenScript: Design CRISPR guide RNA sequences for DDB2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DDB2
- Browse OriGene Inhibitory RNA Products For DDB2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DDB2
- genomics-online: shRNA clones - Search results for 84 available DDB2 gene related products
- Overview of 84 available DDB2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DDB2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DDB2
- Applied Biological Materials Clones for DDB2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
Expression for DDB2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
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
NURSA nuclear receptor signaling pathways regulating expression of DDB2 Gene:
DDB2SOURCE GeneReport for Unigene cluster for DDB2 Gene:
Hs.700338mRNA 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(4.6)
- Nervous system(4.5)
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
Primer Products
-
OriGene qPCR primer pairs for DDB2
-
OriGene qPCR primer pairs and template standards for DDB2
- genomics-online: primer clones - Search results for 84 available DDB2 gene related products
- Overview of 84 available DDB2 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DDB2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DDB2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DDB2 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ddb2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ddb2 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | DDB2 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| chicken (Gallus gallus) |
Aves | DDB2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DDB2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ddb2 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ddb2 34 33 |
|
OneToOne | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | DDB2 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0141700 33 |
|
- Species where no ortholog for DDB2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
No data available for Paralogs for DDB2 Gene
Variants for DDB2 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1050244 | likely-benign, Xeroderma pigmentosum | 47,238,926(+) | C/T | 3_prime_UTR_variant, non_coding_transcript_variant | |
| rs121434639 | pathogenic, Xeroderma pigmentosum, group E, Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] | 47,234,784(+) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs121434640 | pathogenic, Xeroderma pigmentosum, group E, Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] | 47,234,872(+) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
| rs121434641 | pathogenic, Xeroderma pigmentosum, group E | 47,235,326(+) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained | |
| rs121434642 | pathogenic, Xeroderma pigmentosum, group E | 47,235,308(+) | G/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3626199 | CNV | loss | 21293372 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DDB2 Gene
Disorders for DDB2 Gene
(7) MalaCards diseases for DDB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| xeroderma pigmentosum, complementation group e |
|
|
| xeroderma pigmentosum group e |
|
|
| xeroderma pigmentosum, variant type |
|
|
| cockayne syndrome |
|
|
| xeroderma pigmentosum, complementation group c |
|
|
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
No data available for Genatlas for DDB2 Gene
Publications for DDB2 Gene
- 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 22 58
- Structural basis of UV DNA-damage recognition by the DDB1-DDB2 complex. (PMID: 19109893) Scrima A … Thomä NH (Cell 2008) 3 4 22 58
- 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 22 58
- 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 22 58
- 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 22 44 58
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- genomics-online: cdna clones - Search results for 84 available DDB2 gene related products
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Sources for DDB2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
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- (7) GeneLoc
- (8) Gene Wiki
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- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
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- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
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- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
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- (72) neXtProt
- (73) Reactome
- (74)