{"entity":{"id":"ercc6","kind":"target","name":"ERCC6","aka":["ERCC excision repair 6, chromatin remodeling factor","Chimeric ERCC6-PGBD3 protein","RAD26","ARMD5","CKN2"],"tldr":"ERCC6 (Chimeric ERCC6-PGBD3 protein) is a gene. The public catalogues list it as a drug target, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Colorectal cancer and Lung cancer.","summary":"Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant, naming Fluorouracil. Open Targets scores its association with cancer at 0.61 (direct and indirect evidence; datatypes literature 0.92, affected pathway 0.61, animal model 0.47, genetic association 0.91).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3438","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3438"},{"label":"UniProt P0DP91","url":"https://www.uniprot.org/uniprotkb/P0DP91/entry"},{"label":"NCBI Gene 2074","url":"https://www.ncbi.nlm.nih.gov/gene/2074"},{"label":"Ensembl ENSG00000225830","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000225830"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["colorectal","lung-cancer"],"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: CIViC lists 1 therapies; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"clinical-evidence\" 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":"ERCC6","role":["drug-target","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3438","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3438","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P0DP91","url":"https://www.uniprot.org/uniprotkb/P0DP91/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC6","url":"https://civicdb.org/features/1742","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000225830","url":"https://platform.opentargets.org/target/ENSG00000225830/associations","note":"association with cancer (MONDO_0004992) 0.61; per-cancer scores at or above 0.5: lung cancer 0.57 (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"few-types","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA ERCC6: RNA low tissue specificity; no normal tissue stained high. Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Colorectal cancer, Lung cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (lung cancer). (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt P0DP91","url":"https://www.uniprot.org/uniprotkb/P0DP91/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC6","url":"https://civicdb.org/features/1742","note":"1 evidence items, 0 assertions, 1 variants; diseases: Colorectal Cancer (GraphQL API, CC0)"},{"label":"Human Protein Atlas ERCC6 tissue","url":"https://www.proteinatlas.org/ENSG00000225830-ERCC6/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000225830 associations","url":"https://platform.opentargets.org/target/ENSG00000225830/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:3438","ensembl":"ENSG00000225830","uniprot":"P0DP91","entrez":"2074","firstDescribed":2004,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Deloukas et al, Nature, 2004, \"The DNA sequence and comparative analysis of human chromosome 10\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/15164054/","biology":"Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterised by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF. Location: Nucleus (UniProt). Locus 10q11.23 (HGNC).","whereFound":["Colorectal cancer: CIViC evidence names this disease","Lung cancer: Open Targets association 0.57 with lung cancer (MONDO_0008903)"],"targetClass":"other","prevalence":[]},"route":"/targets/ercc6/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"}]}}