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 |
|---|---|---|---|---|---|
OMIM IDMIM:600811 Ensembl IDEnsembl:ENSG00000134574 HGNC IDHGNC:HGNC:2718 PHARMGKB IDPA27188 Map Location11p11.2 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DDB2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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