DDB2
gene geneOn this page
Also known as DDBBUV-DDB2FLJ34321XPE
Summary
DDB2 (damage specific DNA binding protein 2, HGNC:2718) is a protein-coding gene on chromosome 11p11.2, encoding DNA damage-binding protein 2 (Q92466). 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.
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.
Source: NCBI Gene 1643 — RefSeq curated summary.
At a glance
- Gene–disease (curated): xeroderma pigmentosum group E (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 12
- Clinical variants (ClinVar): 174 total — 9 pathogenic, 5 likely-pathogenic
- Phenotypes (HPO): 64
- Cancer driver (intOGen): activating (oncogene-like) across 2 cancer types
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_000107
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2718 |
| Approved symbol | DDB2 |
| Name | damage specific DNA binding protein 2 |
| Location | 11p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DDBB, UV-DDB2, FLJ34321, XPE |
| Ensembl gene | ENSG00000134574 |
| Ensembl biotype | protein_coding |
| OMIM | 600811 |
| Entrez | 1643 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 17 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000256996, ENST00000378600, ENST00000378601, ENST00000378603, ENST00000610805, ENST00000612309, ENST00000614394, ENST00000614825, ENST00000614884, ENST00000615695, ENST00000616278, ENST00000617022, ENST00000617847, ENST00000620515, ENST00000622090, ENST00000622878, ENST00000896514, ENST00000896515, ENST00000896516, ENST00000915750, ENST00000915751, ENST00000915752, ENST00000915753, ENST00000967663, ENST00000967664, ENST00000967665, ENST00000967666
RefSeq mRNA: 6 — MANE Select: NM_000107
NM_000107, NM_001300734, NM_001399874, NM_001399875, NM_001399876, NM_001399878
CCDS: CCDS73284, CCDS7927, CCDS91469
Canonical transcript exons
ENST00000256996 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000839238 | 47234573 | 47234672 |
| ENSE00000839239 | 47234757 | 47234934 |
| ENSE00000989101 | 47232814 | 47232959 |
| ENSE00001098002 | 47214974 | 47215263 |
| ENSE00001098005 | 47216336 | 47216472 |
| ENSE00001180944 | 47216858 | 47217049 |
| ENSE00003485154 | 47235270 | 47235412 |
| ENSE00003570899 | 47238800 | 47239217 |
| ENSE00003649546 | 47237837 | 47238001 |
| ENSE00003675133 | 47238138 | 47238183 |
Expression profiles
Bgee: expression breadth ubiquitous, 235 present calls, max score 96.65.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.3030 / max 291.9871, expressed in 1809 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114167 | 17.2636 | 1697 |
| 114166 | 14.6598 | 1787 |
| 114165 | 1.8025 | 973 |
| 114168 | 0.4617 | 194 |
| 114169 | 0.0801 | 22 |
| 114170 | 0.0353 | 11 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skin of abdomen | UBERON:0001416 | 96.65 | gold quality |
| skin of leg | UBERON:0001511 | 96.60 | gold quality |
| right uterine tube | UBERON:0001302 | 96.44 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.13 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.48 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 95.12 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.98 | gold quality |
| zone of skin | UBERON:0000014 | 94.74 | gold quality |
| granulocyte | CL:0000094 | 94.61 | gold quality |
| left adrenal gland | UBERON:0001234 | 94.52 | gold quality |
| ascending aorta | UBERON:0001496 | 94.49 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.44 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.31 | gold quality |
| tibial nerve | UBERON:0001323 | 93.72 | gold quality |
| esophagus mucosa | UBERON:0002469 | 93.71 | gold quality |
| endometrium epithelium | UBERON:0004811 | 93.64 | gold quality |
| vagina | UBERON:0000996 | 93.57 | gold quality |
| minor salivary gland | UBERON:0001830 | 93.52 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.38 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 93.35 | gold quality |
| ectocervix | UBERON:0012249 | 93.20 | gold quality |
| apex of heart | UBERON:0002098 | 93.17 | gold quality |
| body of pancreas | UBERON:0001150 | 93.16 | gold quality |
| body of uterus | UBERON:0009853 | 92.96 | gold quality |
| esophagus | UBERON:0001043 | 92.94 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.75 | gold quality |
| adrenal gland | UBERON:0002369 | 92.71 | gold quality |
| aorta | UBERON:0000947 | 92.62 | gold quality |
| endocervix | UBERON:0000458 | 92.55 | gold quality |
| rectum | UBERON:0001052 | 92.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.66 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
3 targets.
| Target | Regulation |
|---|---|
| BCL2 | Repression |
| SOD2 | Repression |
| XPA | Unknown |
Upstream regulators (CollecTRI, top): BRCA1, E2F1, E2F3, NF1, SP1, TP53, TP63
miRNA regulators (miRDB)
16 targeting DDB2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3612 | 99.45 | 66.02 | 1333 |
| HSA-MIR-650 | 99.45 | 65.77 | 1309 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-1286 | 99.09 | 66.23 | 1046 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-218-1-3P | 98.63 | 67.97 | 832 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-3187-3P | 97.38 | 65.80 | 904 |
| HSA-MIR-1291 | 96.28 | 65.89 | 1224 |
| HSA-MIR-6813-3P | 95.78 | 63.78 | 540 |
| HSA-MIR-6775-3P | 95.76 | 65.91 | 982 |
| HSA-MIR-6851-3P | 95.73 | 65.11 | 688 |
| HSA-MIR-328-3P | 92.82 | 64.37 | 521 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- These results indicate that DDB2 is a modulator of UV-induced apoptosis, and that UV resistance can be overcome by inhibition of DDB2 (PMID:11852074)
- These results demonstrate direct activation of the human DDB2 gene by p53. The corresponding region in the mouse DDB2 gene shared significant sequence identity with the human gene but was deficient for p53 binding and transcriptional activation. (PMID:11971958)
- Sequential binding of UV DNA damage binding factor and degradation of the p48 subunit as early events after UV irradiation (PMID:12034848)
- findings substantiate the physical and functional connection between the hepatitis B virus X protein and the DDB1-DDB2 heterodimer, leading to the regulation of the pool of the viral protein (PMID:12050362)
- These findings indicate that hepatitis B virus X protein acts through a pathway that involves a DDB2-independent nuclear function of DDB1 and that this activity will depend on the relative concentration of DDB1 and DDB2 in cells. (PMID:12151405)
- BRCA1 upregulates DDB2, with some evidence that p53 is involved in its regulation. (PMID:12496474)
- overexpression of DDB2 in V79 cell potentiates DNA repair and protects cells from UV-induced apoptosis and cytotoxicity. (PMID:12553360)
- DDB2 and CSA are each integrated into nearly identical complexes via interaction with DDB1 (PMID:12732143)
- DDB2p48 activates the recruitment of XPC to cyclobutane pyrimidine dimers and may be the initial recognition factor in the nucleotide excision repair pathway (PMID:12944386)
- Data suggest that both before and after UV irradiation, DDB2 directly regulates p53 levels, while DDB2 expression is itself regulated by p53. (PMID:14560002)
- identification of four DDB2 variants from HeLa cells (D1-D4) that are generated by alternative splicing (PMID:14751237)
- DDB2 regulates TNF signaling-mediated apoptosis via cFLIP and contributes to acquired cross-resistance. (PMID:15644494)
- UV-DDB interacts with XPC physically, and both are polyubiquitylated by the UV-DDB-ubiquitin ligase complex. (PMID:15882621)
- DDB1-DDB2 protein complex recognizes DNA mismatches and lesions (PMID:16223728)
- DDB2 has an intrinsic damaged DNA binding activity (PMID:16260596)
- Monoubiquitinated histone H2A in native chromatin coimmunoprecipitates with the endogenous DDB1-CUL4A(DDB2) complex in response to UV irradiation. (PMID:16473935)
- CUL-4A mediates the proteolytic degradation of DDB2 and this degradation event, initiated at the lesion sites, regulates damage recognition by XPC. (PMID:16527807)
- DDB2 can bind to damaged DNA in vivo as a monomer, whereas Cul4A recruitment to damage sites depends on the fully assembled complex. (PMID:16951172)
- Results suggest that the roles of p53 and nucleotide excision repair in the recovery from UV-induced replication are separable and DDB2-independent. (PMID:17630510)
- A nonsense mutation 574CT (R192X) in DDB2 was found in association facial neoplasms in a form of xeroderma pigmentosum.The parents were heterozygous & the patient homozygous. (PMID:17660462)
- provide genetic evidence linking the regulation of p21(Waf1/Cip1) to the nucleotide excision repair activity of DDB2 (PMID:17967871)
- p53 determines the switch by regulating ddb2 and DNA double-strand breaks in antineoplastic agent treatment of glioblastoma multiforme. (PMID:18089819)
- These findings demonstrate for the first time that DDB2 can play a role as oncogene and may become a promising candidate as a predictive marker in breast cancer. (PMID:18431487)
- DDB1-CUL4B(DDB2) E3 ligase may have a distinctive function in modifying the chromatin structure at the site of UV lesions to promote efficient NER. (PMID:18593899)
- p38 MAPK regulates chromatin remodeling as well as DDB2 degradation for facilitating NER factor assembly (PMID:18806262)
- Results suggest a model in which UV-dependent degradation of DDB2 is important for the release of DDB1 from continuous association to unrepaired DNA and makes DDB1 available for its other DNA damage response functions. (PMID:18936169)
- The structure DDB1-DDB2 complex shows the tightly localized probing of the photolesions, combined with proofreading in the photodimer pocket, enables DDB2 to detect lesions refractory to detection by other damage surveillance proteins. (PMID:19109893)
- DDB2 exerts, at least in part, a control of breast cancer cell growth through its negative regulation of constitutive expression of the SOD2 gene. (PMID:19339246)
- p53 is primarily protective against ultraviolet rays-induced apoptosis in primary human fibroblasts and this activity of p53 does not require DDB2. (PMID:19428372)
- Results provide evidence for a new regulatory loop involving the NER protein DDB2, Mdm2, and p21(Waf1/Cip1) that is critical in deciding cell fate (apoptosis or arrest) upon DNA damage. (PMID:19541625)
- Overexpression of DDB2 enhances the sensitivity of ovarian cancer cells to cisplatin by augmenting cellular apoptosis. (PMID:20013802)
- Data show that XPC and Ku oppositely regulate the ubiquitin ligase activity of DDB2, and that DDB2 complex-mediated ubiquitylation plays a role in recruiting XPA to damaged sites. (PMID:20368362)
- Damaged DNA-binding protein 2 (DDB2) protects against UV irradiation in human cells and Drosophila (PMID:20398405)
- Multiple skin cancers in adults are associted with mutations in the XP-E (DDB2) DNA repair gene. (PMID:21107348)
- Nucleotide excision repair proteins rapidly accumulate but fail to persist in human xeroderma pigmentosum XP-E (DDB2 mutant) cells. (PMID:21388382)
- Studies indicate the modular architecture of DDB1-CUL4 in complex with DDB2, CSA and CDT2 in DNA repair of UV-induced DNA lesions. (PMID:21550341)
- DDB2 subunit of UV-DDB associates transiently with the DNA-binding domain of XPC to fine-tune its engagement with CPD lesions (PMID:22039351)
- study reports a new function of DDB2 in modulating chromatin structure at DNA lesions (PMID:22492724)
- Findings indicate structural and conformational insights of the DDB1-CUL4A(DDB2) E3 ligase, with significant implications for the regulation and overall organization of the proteins responsible for initiation of nucleotide-excision repair (NER) pathway. (PMID:22822215)
- DDB2 can inhibit cell growth rate in AR-expressing cells (LNCaP) but not in AR-null cells (PC3). (PMID:22846800)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ddb2 | ENSDARG00000041140 |
| mus_musculus | Ddb2 | ENSMUSG00000002109 |
| rattus_norvegicus | Ddb2 | ENSRNOG00000014071 |
Protein
Protein identifiers
DNA damage-binding protein 2 — Q92466 (reviewed: Q92466)
Alternative names: DDB p48 subunit, Damage-specific DNA-binding protein 2, UV-damaged DNA-binding protein 2
All UniProt accessions (6): A0A087WTQ7, A0A087WV56, A0A087WW71, A0A087WYT8, Q92466, A0A087X0X5
UniProt curated annotations — full annotation on UniProt →
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. 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. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches. 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). The DDB2-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 DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER. 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. Inhibits UV-damaged DNA repair. Inhibits UV-damaged DNA repair.
Subunit / interactions. Component of the UV-DDB complex which includes DDB1 and DDB2. The UV-DDB complex interacts with monoubiquitinated histone H2A and binds to XPC via the DDB2 subunit. Component of the DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB1-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1), which includes CUL4A or CUL4B, DDB1, DDB2 and RBX1. DDB2 may function as the substrate recognition module within this complex. The DDB1-CUL4-ROC1 complex may associate with the COP9 signalosome, and this inhibits the E3 ubiquitin-protein ligase activity of the complex. A large number of other DCX complexes may also exist in which an alternate substrate targeting subunit replaces DDB2. These targeting subunits are generally known as DCAF (DDB1- and CUL4-associated factor) or CDW (CUL4-DDB1-associated WD40-repeat) proteins. Isoform D1 and isoform D2 do not interact with DDB1.
Subcellular location. Nucleus. Chromosome.
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.
Post-translational modifications. 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. Deubiquitinated by USP44; leading to its stabilization on DNA lesions. Acetylated. Deacetylation by SIRT6 in response to UV stress facilitates nucleotide excision repair pathway (the NER pathway) transduction.
Disease relevance. 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. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. 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.
Induction. Expression is induced in response to treatment with IR or UV and this requires p53/TP53 activity.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the WD repeat DDB2/WDR76 family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q92466-1 | 1 | yes |
| Q92466-2 | D1 | |
| Q92466-3 | D2 | |
| Q92466-4 | D3 | |
| Q92466-5 | D4 |
RefSeq proteins (6): NP_000098, NP_001287663, NP_001386803, NP_001386804, NP_001386805, NP_001386807 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR033312 | DDB2 | Family |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
Pfam: PF00400
UniProt features (91 total): strand 37, mutagenesis site 11, turn 10, repeat 7, splice variant 6, helix 5, region of interest 4, modified residue 4, sequence variant 4, chain 1, short sequence motif 1, compositionally biased region 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3I7L | X-RAY DIFFRACTION | 2.8 |
| 4E54 | X-RAY DIFFRACTION | 2.85 |
| 4E5Z | X-RAY DIFFRACTION | 3.22 |
| 3EI4 | X-RAY DIFFRACTION | 3.3 |
| 9J8W | ELECTRON MICROSCOPY | 3.38 |
| 6R8Z | ELECTRON MICROSCOPY | 3.9 |
| 6R91 | ELECTRON MICROSCOPY | 4.1 |
| 6R8Y | ELECTRON MICROSCOPY | 4.3 |
| 6R90 | ELECTRON MICROSCOPY | 4.5 |
| 6R92 | ELECTRON MICROSCOPY | 4.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q92466-F1 | 83.69 | 0.70 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 24, 26, 35, 77
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 35 | decreased acetylation levels. |
| 40 | does not affect acetylation levels. |
| 77 | decreased acetylation levels. |
| 258 | impairs interaction with ddb1. |
| 262 | impairs interaction with ddb1. |
| 264 | impairs interaction with ddb1. |
| 269 | impairs interaction with ddb1. |
| 270 | impairs interaction with ddb1. |
| 272 | impairs interaction with ddb1. |
| 273 | impairs interaction with ddb1. |
| 350 | impairs interaction with ddb1. |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689880 | Ub-specific processing proteases |
| R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| R-HSA-5696395 | Formation of Incision Complex in GG-NER |
| R-HSA-5696400 | Dual Incision in GG-NER |
| R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 392 (showing top):
REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER, E2F_Q4, E2F_Q4_01, LEE_NEURAL_CREST_STEM_CELL_DN, KANG_FLUOROURACIL_RESISTANCE_UP, MORF_RAB5A, GOBP_CELLULAR_RESPONSE_TO_UV, BASSO_B_LYMPHOCYTE_NETWORK, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, ROVERSI_GLIOMA_COPY_NUMBER_UP, KAUFFMANN_DNA_REPAIR_GENES, GOBP_NUCLEOTIDE_EXCISION_REPAIR, E2F_Q3, CEBALLOS_TARGETS_OF_TP53_AND_MYC_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN
GO Biological Process (10): protein polyubiquitination (GO:0000209), DNA repair (GO:0006281), nucleotide-excision repair (GO:0006289), pyrimidine dimer repair (GO:0006290), DNA damage response (GO:0006974), response to UV (GO:0009411), cellular response to UV (GO:0034644), protein autoubiquitination (GO:0051865), UV-damage excision repair (GO:0070914), protein ubiquitination (GO:0016567)
GO Molecular Function (5): DNA binding (GO:0003677), damaged DNA binding (GO:0003684), protein-containing complex binding (GO:0044877), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515)
GO Cellular Component (10): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cell junction (GO:0030054), Cul4A-RING E3 ubiquitin ligase complex (GO:0031464), Cul4B-RING E3 ubiquitin ligase complex (GO:0031465), protein-containing complex (GO:0032991), Cul4-RING E3 ubiquitin ligase complex (GO:0080008), site of DNA damage (GO:0090734), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 3 |
| Deubiquitination | 1 |
| Transcriptional Regulation by TP53 | 1 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| DNA repair | 3 |
| protein ubiquitination | 2 |
| binding | 2 |
| chromosome | 2 |
| Cul4-RING E3 ubiquitin ligase complex | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| response to light stimulus | 1 |
| response to UV | 1 |
| cellular response to light stimulus | 1 |
| cellular response to UV | 1 |
| protein modification by small protein conjugation | 1 |
| nucleic acid binding | 1 |
| DNA binding | 1 |
| ubiquitin-like protein transferase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular_component | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1960 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DDB2 | DDB1 | Q16531 | 999 |
| DDB2 | CUL4A | Q13619 | 998 |
| DDB2 | RBX1 | P62877 | 996 |
| DDB2 | XPA | P23025 | 972 |
| DDB2 | RAD23B | P54727 | 857 |
| DDB2 | CUL4B | Q13620 | 846 |
| DDB2 | ERCC2 | P18074 | 831 |
| DDB2 | CETN2 | P41208 | 830 |
| DDB2 | DET1 | Q7L5Y6 | 829 |
| DDB2 | USP24 | Q9UPU5 | 820 |
| DDB2 | SMARCA4 | P51532 | 806 |
| DDB2 | XPC | Q01831 | 797 |
| DDB2 | ERCC3 | P19447 | 751 |
| DDB2 | TP53 | P04637 | 745 |
| DDB2 | DTL | Q9NZJ0 | 745 |
IntAct
153 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DDB2 | DDB1 | psi-mi:“MI:0915”(physical association) | 0.970 |
| DDB1 | DDB2 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| DDB1 | DDB2 | psi-mi:“MI:0915”(physical association) | 0.970 |
| DDB2 | DDB1 | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| CUL4B | DDB1 | psi-mi:“MI:0914”(association) | 0.940 |
| DDB1 | CUL4A | psi-mi:“MI:0914”(association) | 0.920 |
| COPS5 | COPS2 | psi-mi:“MI:0914”(association) | 0.910 |
| CUL4A | DDB2 | psi-mi:“MI:0915”(physical association) | 0.900 |
| DDB2 | CUL4A | psi-mi:“MI:0914”(association) | 0.900 |
| COPS2 | GPS1 | psi-mi:“MI:0914”(association) | 0.860 |
| COPS8 | COPS2 | psi-mi:“MI:0914”(association) | 0.850 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| CUL4B | CUL4A | psi-mi:“MI:0914”(association) | 0.730 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
BioGRID (515): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DDB2 (Biochemical Activity), CUL4A (Biochemical Activity), DDB2 (Affinity Capture-MS), DDB2 (Affinity Capture-MS), DDB2 (Affinity Capture-MS), DDB2 (Affinity Capture-MS), PFDN4 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT6A (Affinity Capture-MS), CUL4B (Affinity Capture-MS), CUL4A (Affinity Capture-MS), DDB1 (Affinity Capture-MS)
ESM2 similar proteins: A2AKB9, A2RRH5, A2RUS2, O43379, O60336, P58742, Q08BB3, Q0VBY8, Q148I1, Q15334, Q3MHH0, Q3SZD4, Q3U3T8, Q499N3, Q4R3J7, Q4VBE8, Q5FW06, Q5QP82, Q5RCX2, Q5T6F0, Q5U4D9, Q5U4F6, Q5VW00, Q5ZJL7, Q63ZP7, Q6AX81, Q6AY87, Q6NS57, Q6NWH1, Q6P1M3, Q6P809, Q7Z5U6, Q80Y17, Q86W42, Q8AVS9, Q8BGW4, Q8BGZ3, Q8C5V5, Q8HXL3, Q8K4K5
Diamond homologs: A1CF18, A1CQI9, A2AKB9, A5DL92, A5DST9, A8IR43, A8X8C6, A9V790, B0XM00, B2VZH2, B6GZD3, B6QC06, B8N9H4, C5PFX0, D5GBI7, F1DLK1, F4IIK6, O42860, O74184, P0CS44, P0CS45, P38959, P41318, Q0CLJ4, Q0D0X6, Q0VBY8, Q17QU5, Q28I90, Q29HG9, Q2UGK1, Q2UGU1, Q2YDS1, Q499N3, Q4VBE8, Q4WLM7, Q54D08, Q5APF0, Q5FW06, Q5I0B4, Q5QP82
SIGNOR signaling
5 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PCSK7 | down-regulates | DDB2 | |
| USP24 | up-regulates | DDB2 | deubiquitination |
| DDB2 | “form complex” | DDB2/DDB1 | binding |
| DDB2 | up-regulates | E2F1 | binding |
| ABL1 | down-regulates | DDB2 | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 114 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 14 | 53.3× | 9e-19 |
| Prefoldin mediated transfer of substrate to CCT/TriC | 7 | 36.8× | 8e-08 |
| Formation of TC-NER Pre-Incision Complex | 13 | 36.7× | 2e-15 |
| RHOBTB1 GTPase cycle | 5 | 31.7× | 3e-05 |
| Formation of tubulin folding intermediates by CCT/TriC | 5 | 28.2× | 5e-05 |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 5 | 27.2× | 5e-05 |
| Recognition of DNA damage by PCNA-containing replication complex | 5 | 25.4× | 7e-05 |
| Formation of Incision Complex in GG-NER | 7 | 23.7× | 1e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 8 | 72.0× | 1e-11 |
| protein neddylation | 9 | 60.8× | 4e-12 |
| positive regulation of telomere maintenance via telomerase | 5 | 35.2× | 3e-05 |
| intrinsic apoptotic signaling pathway | 5 | 17.2× | 6e-04 |
| cellular response to UV | 6 | 17.1× | 1e-04 |
| protein folding | 9 | 8.9× | 6e-05 |
| ubiquitin-dependent protein catabolic process | 8 | 5.7× | 4e-03 |
| protein ubiquitination | 14 | 5.6× | 3e-05 |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 2 cancer types — AML, BLCA.
Clinical variants and AI predictions
ClinVar
174 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 9 |
| Likely pathogenic | 5 |
| Uncertain significance | 72 |
| Likely benign | 39 |
| Benign | 26 |
Top pathogenic / likely-pathogenic (14)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1319564 | NM_000107.3(DDB2):c.574C>T (p.Arg192Ter) | Pathogenic |
| 1333388 | NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter) | Pathogenic |
| 2062799 | NM_000107.3(DDB2):c.640C>T (p.Arg214Ter) | Pathogenic |
| 3067698 | NM_000107.3(DDB2):c.702+1G>T | Pathogenic |
| 3366825 | NC_000011.9:g.(47238024_47238408)_(47254511_47256123)del | Pathogenic |
| 3711370 | NM_000107.3(DDB2):c.1063C>T (p.Arg355Ter) | Pathogenic |
| 8787 | NM_000107.3(DDB2):c.730A>G (p.Lys244Glu) | Pathogenic |
| 8789 | NM_000107.3(DDB2):c.937C>T (p.Arg313Ter) | Pathogenic |
| 8790 | NM_000107.3(DDB2):c.919G>T (p.Asp307Tyr) | Pathogenic |
| 2431840 | NM_000107.3(DDB2):c.85dup (p.Glu29fs) | Likely pathogenic |
| 2576188 | NM_000107.3(DDB2):c.456+2T>C | Likely pathogenic |
| 3599767 | NM_000107.3(DDB2):c.970dup (p.Leu324fs) | Likely pathogenic |
| 4081306 | NM_000107.3(DDB2):c.880+1G>T | Likely pathogenic |
| 872377 | NM_000107.3(DDB2):c.457-2A>C | Likely pathogenic |
SpliceAI
1677 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:47215241:G:GT | donor_gain | 1.0000 |
| 11:47215244:GCTCT:G | donor_gain | 1.0000 |
| 11:47215245:C:G | donor_gain | 1.0000 |
| 11:47232960:G:GG | donor_gain | 1.0000 |
| 11:47234570:CA:C | acceptor_loss | 1.0000 |
| 11:47234571:A:AG | acceptor_gain | 1.0000 |
| 11:47234572:G:GG | acceptor_gain | 1.0000 |
| 11:47234572:G:GT | acceptor_loss | 1.0000 |
| 11:47234572:GC:G | acceptor_gain | 1.0000 |
| 11:47234572:GCA:G | acceptor_gain | 1.0000 |
| 11:47234572:GCAT:G | acceptor_gain | 1.0000 |
| 11:47234572:GCATC:G | acceptor_gain | 1.0000 |
| 11:47234670:GAG:G | donor_gain | 1.0000 |
| 11:47234673:G:GG | donor_gain | 1.0000 |
| 11:47234673:G:T | donor_loss | 1.0000 |
| 11:47235269:GCTT:G | acceptor_gain | 1.0000 |
| 11:47235409:CAAGG:C | donor_loss | 1.0000 |
| 11:47235410:AAGGT:A | donor_loss | 1.0000 |
| 11:47235412:GGTG:G | donor_loss | 1.0000 |
| 11:47235413:G:GA | donor_loss | 1.0000 |
| 11:47235414:T:A | donor_loss | 1.0000 |
| 11:47237814:T:TA | acceptor_gain | 1.0000 |
| 11:47237835:A:AG | acceptor_gain | 1.0000 |
| 11:47237836:G:GG | acceptor_gain | 1.0000 |
| 11:47237836:GGCA:G | acceptor_gain | 1.0000 |
| 11:47237953:G:T | donor_gain | 1.0000 |
| 11:47237997:GTTCG:G | donor_gain | 1.0000 |
| 11:47237998:T:G | donor_gain | 1.0000 |
| 11:47238007:GCT:G | donor_gain | 1.0000 |
| 11:47215257:GGC:G | donor_gain | 0.9900 |
AlphaMissense
2817 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:47237843:T:A | W344R | 0.997 |
| 11:47237843:T:C | W344R | 0.997 |
| 11:47237877:G:C | R355P | 0.997 |
| 11:47216948:T:A | W119R | 0.996 |
| 11:47216948:T:C | W119R | 0.996 |
| 11:47234862:T:A | W270R | 0.996 |
| 11:47234862:T:C | W270R | 0.996 |
| 11:47234926:T:A | V291D | 0.996 |
| 11:47235327:G:C | R313P | 0.995 |
| 11:47216988:A:T | K132I | 0.994 |
| 11:47234838:T:C | S262P | 0.994 |
| 11:47234839:C:T | S262F | 0.994 |
| 11:47216984:T:C | S131P | 0.993 |
| 11:47235389:T:C | F334L | 0.993 |
| 11:47235391:C:A | F334L | 0.993 |
| 11:47235391:C:G | F334L | 0.993 |
| 11:47216976:C:A | A128D | 0.992 |
| 11:47234638:G:T | G223V | 0.992 |
| 11:47234839:C:A | S262Y | 0.992 |
| 11:47235300:T:C | L304P | 0.992 |
| 11:47216931:G:C | R113T | 0.991 |
| 11:47216932:G:C | R113S | 0.991 |
| 11:47216932:G:T | R113S | 0.991 |
| 11:47216989:A:C | K132N | 0.991 |
| 11:47216989:A:T | K132N | 0.991 |
| 11:47234836:C:A | A261D | 0.991 |
| 11:47238148:T:C | F400S | 0.991 |
| 11:47216931:G:T | R113M | 0.990 |
| 11:47234833:C:A | T260K | 0.990 |
| 11:47234835:G:C | A261P | 0.990 |
dbSNP variants (sampled 300 via entrez): RS1000400312 (11:47224284 G>C,T), RS1000547724 (11:47231151 A>C), RS1000796690 (11:47230361 C>T), RS1000848691 (11:47224532 G>A,C), RS1001044620 (11:47237149 G>C), RS1001143751 (11:47222951 G>A), RS1001195558 (11:47214174 C>G,T), RS1001226693 (11:47213455 G>A), RS1001343139 (11:47224897 T>G), RS1001467664 (11:47227734 A>G), RS1001498614 (11:47227407 A>G), RS1001513565 (11:47216036 G>GTTC), RS1001671776 (11:47220692 T>C), RS1001804565 (11:47226126 A>G), RS1001957754 (11:47221685 T>C)
Disease associations
OMIM: gene MIM:600811 | disease phenotypes: MIM:278740, MIM:278700, MIM:167000
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| xeroderma pigmentosum group E | Definitive | Autosomal recessive |
| xeroderma pigmentosum | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| xeroderma pigmentosum group E | Definitive | AR |
Mondo (3): xeroderma pigmentosum group E (MONDO:0010213), xeroderma pigmentosum (MONDO:0019600), ovarian cancer (MONDO:0008170)
Orphanet (3): Xeroderma pigmentosum (Orphanet:910), Rare ovarian cancer (Orphanet:213500), OBSOLETE: Xeroderma pigmentosum complementation group E (Orphanet:276261)
HPO phenotypes
64 total (30 of 64 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000135 | Hypogonadism |
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000491 | Keratitis |
| HP:0000498 | Blepharitis |
| HP:0000509 | Conjunctivitis |
| HP:0000518 | Cataract |
| HP:0000524 | Conjunctival telangiectasia |
| HP:0000613 | Photophobia |
| HP:0000621 | Entropion |
| HP:0000648 | Optic atrophy |
| HP:0000656 | Ectropion |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000963 | Thin skin |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0000995 | Melanocytic nevus |
| HP:0001009 | Telangiectasia |
| HP:0001029 | Poikiloderma |
| HP:0001034 | Hypermelanotic macule |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001059 | Pterygium |
| HP:0001072 | Thickened skin |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002329_2 | Acne (severe) | 4.000000e-09 |
| GCST004521_165 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST005232_56 | Neuroticism | 1.000000e-16 |
| GCST006940_125 | Neurociticism | 4.000000e-10 |
| GCST006942_9 | Feeling lonely | 2.000000e-09 |
| GCST006943_11 | Feeling miserable | 6.000000e-10 |
| GCST007825_4 | Alzheimer’s disease or fasting glucose levels (pleiotropy) | 3.000000e-16 |
| GCST010002_238 | Refractive error | 2.000000e-14 |
| GCST010244_64 | Triglyceride levels | 2.000000e-31 |
| GCST011348_26 | High density lipoprotein cholesterol levels | 1.000000e-08 |
| GCST90002389_462 | Lymphocyte percentage of white cells | 2.000000e-13 |
| GCST90002394_465 | Monocyte percentage of white cells | 2.000000e-19 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
| EFO:0007865 | loneliness measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007989 | monocyte percentage of leukocytes |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D010051 | Ovarian Neoplasms | C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705 |
| D014983 | Xeroderma Pigmentosum | C04.834.867; C16.131.831.936; C16.320.850.970; C17.800.600.925; C17.800.621.936; C17.800.804.936; C17.800.827.970; C18.452.284.975 |
| C564732 | Xeroderma Pigmentosum, Complementation Group E (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
108 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects expression, affects cotreatment, increases expression | 12 |
| sodium arsenite | increases abundance, affects expression, affects cotreatment, decreases expression | 10 |
| Cisplatin | affects expression, increases expression, affects cotreatment, decreases expression | 7 |
| Aflatoxin B1 | affects expression, affects cotreatment, increases expression | 7 |
| Cadmium Chloride | decreases expression, increases expression | 6 |
| Arsenic | affects methylation, decreases expression, affects cotreatment, increases abundance | 4 |
| Fluorouracil | affects response to substance, increases expression, increases reaction | 4 |
| Tobacco Smoke Pollution | affects expression, decreases expression, increases expression | 4 |
| Valproic Acid | affects expression, decreases expression | 4 |
| Cyclosporine | decreases expression, increases expression | 4 |
| Resveratrol | affects cotreatment, increases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| dibenzo(a,l)pyrene | increases expression | 2 |
| pifithrin | decreases reaction, increases expression | 2 |
| monomethylarsonous acid | decreases expression | 2 |
| Estradiol | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| 6,7-dimethoxy-2-(pyrrolidin-1-yl)-N-(5-(pyrrolidin-1-yl)pentyl)quinazolin-4-amine | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| pradimicin-IRD | decreases expression, affects expression, affects response to substance | 1 |
| benzo(b)fluoranthene | affects cotreatment, increases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| VX-agent | increases expression | 1 |
| Nonidet P-40 | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
Cellosaurus cell lines
20 cell lines: 11 finite cell line, 5 cancer cell line, 3 transformed cell line, 1 telomerase immortalized cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_7327 | GM01646 | Transformed cell line | Female |
| CVCL_B1PV | Abcam HeLa DDB2 KO | Cancer cell line | Female |
| CVCL_B8EK | Abcam HCT 116 DDB2 KO | Cancer cell line | Male |
| CVCL_B8UN | Abcam MCF-7 DDB2 KO | Cancer cell line | Female |
| CVCL_B9GT | Abcam A-549 DDB2 KO | Cancer cell line | Male |
| CVCL_F028 | GM01389 | Finite cell line | Female |
| CVCL_F496 | XP2RO | Finite cell line | Female |
| CVCL_F497 | XP3RO LCL | Transformed cell line | Female |
| CVCL_KT50 | HeLa SilenciX DDB2 | Cancer cell line | Female |
| CVCL_M225 | CW3-XPE | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00190697 | PHASE4 | COMPLETED | A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment |
| NCT00277160 | PHASE4 | COMPLETED | A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer |
| NCT00727961 | PHASE4 | COMPLETED | A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED) |
| NCT00740116 | PHASE4 | COMPLETED | Tranexamic Acid in Surgery of Advanced Ovarian Cancer |
| NCT00817479 | PHASE4 | COMPLETED | Tumor Gene Expression in Women With Ovarian Cancer |
| NCT01432015 | PHASE4 | COMPLETED | Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting |
| NCT01706120 | PHASE4 | UNKNOWN | Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab |
| NCT01932125 | PHASE4 | COMPLETED | An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer |
| NCT01953107 | PHASE4 | COMPLETED | Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates. |
| NCT02035345 | PHASE4 | TERMINATED | Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment |
| NCT02243059 | PHASE4 | WITHDRAWN | Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer |
| NCT03164980 | PHASE4 | TERMINATED | QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer |
| NCT03384511 | PHASE4 | COMPLETED | The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies. |
| NCT03543462 | PHASE4 | COMPLETED | Diaphragmatic Resection And Gynecological Ovarian Neoplasm |
| NCT03752216 | PHASE4 | COMPLETED | NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib. |
| NCT03858166 | PHASE4 | TERMINATED | Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer |
| NCT04024254 | PHASE4 | COMPLETED | A Study of Serum Folate Levels in Patients Treated With Olaparib |
| NCT04330040 | PHASE4 | COMPLETED | Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer |
| NCT04352439 | PHASE4 | COMPLETED | Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy |
| NCT05187208 | PHASE4 | UNKNOWN | PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer |
| NCT05606692 | PHASE4 | RECRUITING | Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics) |
| NCT05926336 | PHASE4 | RECRUITING | The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action |
| NCT06412120 | PHASE4 | RECRUITING | Study Evaluating Safety, Tolerability, and Metabolism of Niraparib |
| NCT06871787 | PHASE4 | NOT_YET_RECRUITING | Near-Infrared Fluorescence Imaging With Indocyanine Green to Evaluate Bowel Anastomoses in Gynecologic Oncology Surgery |
| NCT06887933 | PHASE4 | NOT_YET_RECRUITING | A Trial to Evaluate the Safety of Niraparib Tablets in Adult Female Participants With Advanced or Relapsed Epithelial Ovarian Cancer |
| NCT07469202 | PHASE4 | NOT_YET_RECRUITING | CYTALUX Dose Extension Study |
| NCT00001806 | PHASE3 | COMPLETED | Methods in Education for Breast Cancer Genetics |
| NCT00002477 | PHASE3 | UNKNOWN | Adjuvant Chemotherapy Compared With Observation in Treating Patients With Resected Early Stage Ovarian Epithelial Cancer |
| NCT00002568 | PHASE3 | COMPLETED | Combination Chemotherapy With or Without Surgery in Treating Patients With Stage III Ovarian Epithelial Cancer |
| NCT00002641 | PHASE3 | COMPLETED | Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma |
| NCT00002717 | PHASE3 | COMPLETED | Paclitaxel and Cisplatin in Treating Patients With Stage III or Stage IV Ovarian Cancer or Primary Peritoneal Cancer |
| NCT00002764 | PHASE3 | COMPLETED | Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma |
| NCT00002819 | PHASE3 | TERMINATED | Chemotherapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Persistent Ovarian Epithelial Cancer |
| NCT00002894 | PHASE3 | COMPLETED | Platinum-based Chemotherapy With or Without Paclitaxel in Treating Patients With Relapsed Ovarian Cancer |
| NCT00002895 | PHASE3 | COMPLETED | Early Chemotherapy Based on CA 125 Level Alone Compared With Delayed Chemotherapy in Treating Patients With Recurrent Ovarian Epithelial , Fallopian Tube, or Primary Peritoneal Cancer |
| NCT00003120 | PHASE3 | COMPLETED | S9701 Paclitaxel in Treating Patients With Advanced Ovarian, Fallopian Tube, or Primary Peritoneal Cancer in Remission |
| NCT00003214 | PHASE3 | COMPLETED | Chemosensitivity Testing to Assign Treatment for Patients With Stage III or Stage IV Ovarian Cancer |
| NCT00003322 | PHASE3 | COMPLETED | Combination Chemotherapy in Treating Patients With Primary Peritoneal or Stage III Epithelial Ovarian Cancer |
| NCT00003636 | PHASE3 | COMPLETED | Chemotherapy Plus Surgery in Treating Patients With Stage III or Stage IV Ovarian, Peritoneal, or Fallopian Tube Cancer |
| NCT00003644 | PHASE3 | COMPLETED | Carboplatin Plus Paclitaxel With or Without Continued Low-Dose Paclitaxel in Treating Patients With Early-Stage Ovarian Cancer |
Related Atlas pages
- Associated diseases: xeroderma pigmentosum group E, xeroderma pigmentosum
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): ovarian cancer, xeroderma pigmentosum, xeroderma pigmentosum group E