Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DDB2 Gene

Aliases for DDB2 Gene

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

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, group e, ddb-negative subtype and ddb2-related xeroderma pigmentosum. Among its related pathways are Gene Expression and DNA Double-Strand Break Repair. 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.

Gene Wiki entry for DDB2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DDB2 Gene

Genomics for DDB2 Gene

Regulatory Elements for DDB2 Gene

Promoters for DDB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DDB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DDB2 Gene

Chromosome:
11
Start:
47,214,465 bp from pter
End:
47,239,240 bp from pter
Size:
24,776 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 StructureGene 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
    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

Proteomics data for DDB2 Gene at MOPED

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 Lys 151, Lys 187, Lys 278, and Lys 362
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DDB2 (DDB2)

No data available for DME Specific Peptides for DDB2 Gene

Domains & Families for DDB2 Gene

Protein Domains for DDB2 Gene

Suggested Antigen Peptide Sequences for DDB2 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 7 WD repeats.
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.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with DDB2: view

Function for DDB2 Gene

Molecular function for DDB2 Gene

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
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.
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

miRNA for DDB2 Gene

miRTarBase miRNAs that target DDB2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DDB2 Gene COMPARTMENTS Subcellular localization image for DDB2 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for DDB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0043234 protein 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

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:0000717 nucleotide-excision repair, DNA duplex unwinding TAS --
GO:0006281 DNA repair TAS 8798680
GO:0006289 nucleotide-excision repair TAS 8407967
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
genes like me logo Genes that share ontologies with DDB2: view

Drugs & Compounds for DDB2 Gene

(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: HMDB and Novoseek

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

Transcripts for DDB2 Gene

Unigene Clusters for DDB2 Gene

Damage-specific DNA binding protein 2, 48kDa:
Representative Sequences:

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
ECgene alternative splicing isoforms for
DDB2

Expression for DDB2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for DDB2 Gene



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.
genes like me logo Genes that share expression patterns with DDB2: view

Protein tissue co-expression partners for DDB2 Gene

Primer Products

In Situ 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.

Orthologs for DDB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DDB2 35
  • 88.97 (n)
  • 84.98 (a)
DDB2 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DDB2 35
  • 90.06 (n)
  • 86.85 (a)
DDB2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ddb2 35
  • 82.98 (n)
  • 78.45 (a)
Ddb2 16
Ddb2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DDB2 35
  • 99.92 (n)
  • 100 (a)
DDB2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ddb2 35
  • 83.25 (n)
  • 78.91 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 65 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia DDB2 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves DDB2 35
  • 66.2 (n)
  • 61.67 (a)
DDB2 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DDB2 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ddb2 35
  • 65.04 (n)
  • 64.37 (a)
zebrafish
(Danio rerio)
Actinopterygii ddb2 35
  • 54.28 (n)
  • 46.45 (a)
ddb2 36
  • 37 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons DDB2 35
  • 45.62 (n)
  • 34.47 (a)
rice
(Oryza sativa)
Liliopsida Os01g0141700 35
  • 43.89 (n)
  • 32.67 (a)
Species with no ortholog for DDB2:
  • 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)

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

Sequence variations from dbSNP and Humsavar for DDB2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_010141 Xeroderma pigmentosum complementation group E (XP-E)
VAR_010142 Xeroderma pigmentosum complementation group E (XP-E)
rs4647750 - 47,234,614(+) CCGAA(C/T)GGTGG intron-variant, nc-transcript-variant, reference, missense
rs4647751 - 47,234,931(+) TCAAC(A/G)CAGGT intron-variant, reference, missense
rs326211 -- 47,217,114(-) acagg(C/T)gcgaa intron-variant

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

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294

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)

Relevant External Links for DDB2 Gene

HapMap Linkage Disequilibrium report
DDB2
Human Gene Mutation Database (HGMD)
DDB2

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

Disorders for DDB2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DDB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group e, ddb-negative subtype
  • xeroderma pigmentosum, type 5
ddb2-related xeroderma pigmentosum
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
xeroderma pigmentosum, group c
  • xeroderma pigmentosum, type 3
- 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.

Relevant External Links for DDB2

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

No data available for Genatlas for DDB2 Gene

Publications for DDB2 Gene

  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. (PMID: 8530102) Dualan R. … Linn S. (Genomics 1995) 2 3 4 67
  2. Damaged DNA-binding protein 2 (DDB2) protects against UV irradiation in human cells and Drosophila. (PMID: 20398405) Sun N.K. … Chao C.C. (J. Biomed. Sci. 2010) 3 23
  3. Identification of DDB2 protein as a transcriptional regulator of constitutive SOD2 gene expression in human breast cancer cells. (PMID: 19339246) Minig V. … Becuwe P. (J. Biol. Chem. 2009) 3 23
  4. The anti-apoptotic role for p53 following exposure to ultraviolet light does not involve DDB2. (PMID: 19428372) Stubbert L.J. … McKay B.C. (Mutat. Res. 2009) 3 23
  5. DDB2 decides cell fate following DNA damage. (PMID: 19541625) Stoyanova T. … Raychaudhuri P. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23

Products for DDB2 Gene

Sources for DDB2 Gene

Back to Top

Content