{"entity":{"id":"ddb2","kind":"target","name":"DDB2","aka":["damage specific DNA binding protein 2","DNA damage-binding protein 2","UV-DDB2","FLJ34321"],"tldr":"DDB2 (DNA damage-binding protein 2) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a DNA repair gene, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Bladder & urothelial cancer, Skin cancer and Acute myeloid leukaemia.","summary":"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 recognises 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.\n\nOpen Targets scores its association with cancer at 0.65 (direct and indirect evidence; datatypes literature 0.96, genetic association 0.06, somatic mutation 0.84). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Acute Myeloid Leukaemia, Bladder Urothelial Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:2718","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2718"},{"label":"UniProt Q92466","url":"https://www.uniprot.org/uniprotkb/Q92466/entry"},{"label":"NCBI Gene 1643","url":"https://www.ncbi.nlm.nih.gov/gene/1643"},{"label":"Ensembl ENSG00000134574","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134574"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["urothelial","skin-cancer","aml"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; UniProt keyword \"DNA repair\". Evidence tier \"cohort-driver\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDB2","role":["oncogene-driver","tumour-suppressor","dna-repair"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:2718","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:2718","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q92466","url":"https://www.uniprot.org/uniprotkb/Q92466/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000134574","url":"https://platform.opentargets.org/target/ENSG00000134574/associations","note":"association with cancer (MONDO_0004992) 0.65; per-cancer scores at or above 0.5: skin cancer 0.51 (GraphQL API, CC0)"},{"label":"IntOGen DDB2","url":"https://www.intogen.org/search?gene=DDB2","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:2718","ensembl":"ENSG00000134574","uniprot":"Q92466","entrez":"1643","biology":"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 recognises 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. Location: Nucleus; Chromosome (UniProt). Locus 11p11.2 (HGNC).","whereFound":["Bladder & urothelial cancer: IntOGen driver in 1 cohort (BLCA)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Acute myeloid leukaemia: IntOGen driver in 1 cohort (AML)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/ddb2/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"urothelial","kind":"cancer","name":"Bladder & urothelial cancer","route":"/cancers/urothelial/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}