DDB2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| damage specific DNA binding protein 2 | MIM:600811 | Ensembl:ENSG00000134574 | HGNC:HGNC:2718 | PA27188 | 11p11.2 |
GO terms in DDB2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0000209 | protein polyubiquitination |
| BP | IDA | GO:0000209 | protein polyubiquitination |
| BP | TAS | GO:0000715 | nucleotide-excision repair, DNA damage recognition |
| BP | TAS | GO:0006281 | DNA repair |
| BP | TAS | GO:0006289 | nucleotide-excision repair |
| BP | IBA | GO:0006290 | pyrimidine dimer repair |
| BP | IEA | GO:0006290 | pyrimidine dimer repair |
| BP | TAS | GO:0006293 | nucleotide-excision repair, preincision complex stabilization |
| BP | TAS | GO:0006294 | nucleotide-excision repair, preincision complex assembly |
| BP | TAS | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | IBA | GO:0009411 | response to UV |
| BP | IDA | GO:0009411 | response to UV |
| BP | IBA | GO:0010224 | response to UV-B |
| BP | TAS | GO:0016579 | protein deubiquitination |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | IBA | GO:0035518 | histone H2A monoubiquitination |
| BP | IDA | GO:0035518 | histone H2A monoubiquitination |
| BP | TAS | GO:0043687 | post-translational protein modification |
| BP | IBA | GO:0051865 | protein autoubiquitination |
| BP | IDA | GO:0051865 | protein autoubiquitination |
| BP | TAS | GO:0070911 | global genome nucleotide-excision repair |
| BP | IBA | GO:0070914 | UV-damage excision repair |
| BP | IDA | GO:0070914 | UV-damage excision repair |
| CC | IBA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0030054 | cell junction |
| CC | IBA | GO:0031465 | Cul4B-RING E3 ubiquitin ligase complex |
| CC | IDA | GO:0031465 | Cul4B-RING E3 ubiquitin ligase complex |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IMP | GO:0080008 | Cul4-RING E3 ubiquitin ligase complex |
| MF | TAS | GO:0003677 | DNA binding |
| MF | IBA | GO:0003684 | damaged DNA binding |
| MF | IDA | GO:0003684 | damaged DNA binding |
| MF | IBA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0044877 | protein-containing complex binding |
Gene expression in normal tissue: DDB2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DDB2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| kegg | hsa04115 | p53 signaling pathway - Homo sapiens (human) |
| kegg | hsa04120 | Ubiquitin mediated proteolysis - Homo sapiens (human) |
| kegg | hsa05161 | Hepatitis B - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05210 | Colorectal cancer - Homo sapiens (human) |
| kegg | hsa05212 | Pancreatic cancer - Homo sapiens (human) |
| kegg | hsa05213 | Endometrial cancer - Homo sapiens (human) |
| kegg | hsa05214 | Glioma - Homo sapiens (human) |
| kegg | hsa05216 | Thyroid cancer - Homo sapiens (human) |
| kegg | hsa05217 | Basal cell carcinoma - Homo sapiens (human) |
| kegg | hsa05218 | Melanoma - Homo sapiens (human) |
| kegg | hsa05220 | Chronic myeloid leukemia - Homo sapiens (human) |
| kegg | hsa05222 | Small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05223 | Non-small cell lung cancer - Homo sapiens (human) |
| kegg | hsa05224 | Breast cancer - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
| kegg | hsa05226 | Gastric cancer - Homo sapiens (human) |
| pid | p53downstreampathway | Direct p53 effectors |
| wikipathways | WP1530 | miRNA Regulation of DNA Damage Response |
| wikipathways | WP3808 | TP53 Regulates Transcription of DNA Repair Genes |
| wikipathways | WP3982 | miRNA regulation of p53 pathway in prostate cancer |
| wikipathways | WP4155 | Endometrial cancer |
| wikipathways | WP4216 | Chromosomal and microsatellite instability in colorectal cancer |
| wikipathways | WP707 | DNA Damage Response |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5688426 | Deubiquitination |
| reactome | R-HSA-5689880 | Ub-specific processing proteases |
| reactome | R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| reactome | R-HSA-5696395 | Formation of Incision Complex in GG-NER |
| reactome | R-HSA-5696398 | Nucleotide Excision Repair |
| reactome | R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| reactome | R-HSA-5696400 | Dual Incision in GG-NER |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8951664 | Neddylation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD23 | Gossypol | 2 |
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD82 | Quiflapon | 2 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD74 | Idarubicin | 2 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD506 | Fedratinib | 2 |
| iGMDRD888 | Compound 44 | 1 |
| iGMDRD329 | Merck60 | 2 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD213 | SMR000068650 | 2 |
| iGMDRD481 | Dactolisib | 2 |
| iGMDRD137 | Indisulam | 1 |
| iGMDRD270 | Ciclosporin | 2 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD201 | SKI II | 2 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 2 |
| iGMDRD345 | Compound 10b [PMID: 11504634] | 3 |
| iGMDRD560 | MK-2206 | 3 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD772 | BRD4770 | 2 |
| iGMDRD512 | nutlin 3 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DDB2
CLASSFICATION
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