{"entity":{"id":"ercc3","kind":"target","name":"ERCC3","aka":["ERCC excision repair 3, TFIIH core complex helicase subunit","General transcription and DNA repair factor IIH helicase/translocase subunit XPB","BTF2","RAD25","Ssl2"],"tldr":"ERCC3 (General transcription and DNA repair factor IIH helicase/translocase subunit XPB) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a drug target, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Cervical cancer, Skin cancer, Ovarian cancer and 3 more.","summary":"ATP-dependent 3'-5' DNA helicase/translocase. Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex.\n\nCIViC holds 3 clinical evidence items and 0 assertions across 1 variant, naming Immune Checkpoint Inhibitor. Open Targets scores its association with cancer at 0.69 (direct and indirect evidence; datatypes literature 0.91, genetic association 0.44, somatic mutation 0.85). IntOGen calls it a driver in 2 cohorts (0 activating, 2 loss-of-function), covering Cervical Squamous Cell Carcinoma, Melanoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:3435","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435"},{"label":"UniProt P19447","url":"https://www.uniprot.org/uniprotkb/P19447/entry"},{"label":"NCBI Gene 2071","url":"https://www.ncbi.nlm.nih.gov/gene/2071"},{"label":"Ensembl ENSG00000163161","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163161"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["cervical","skin-cancer","ovarian","colorectal","melanoma","nsclc"],"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; IntOGen calls it a loss-of-function (LoF) driver in 2 cohorts; CIViC holds 3 clinical evidence items on its variants; UniProt keyword \"DNA repair\". 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":"ERCC3","role":["drug-target","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:3435","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:3435","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P19447","url":"https://www.uniprot.org/uniprotkb/P19447/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ERCC3","url":"https://civicdb.org/features/1739","note":"3 evidence items, 0 assertions, 1 variants; diseases: Melanoma, Lung Non-small Cell Carcinoma, Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000163161","url":"https://platform.opentargets.org/target/ENSG00000163161/associations","note":"association with cancer (MONDO_0004992) 0.69; per-cancer scores at or above 0.5: colorectal cancer 0.52, ovarian cancer 0.53, melanoma 0.55, skin cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen ERCC3","url":"https://www.intogen.org/search?gene=ERCC3","note":"driver in 2 cohorts (Act 0, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:3435","ensembl":"ENSG00000163161","uniprot":"P19447","entrez":"2071","biology":"ATP-dependent 3'-5' DNA helicase/translocase. Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex. When complexed to CDK-activating kinase (CAK), involved in RNA transcription by RNA polymerase II. The ATPase activity of XPB/ERCC3, but not its helicase activity, is required for DNA opening; it may wrap around the damaged DNA wedging it open, causing localised melting that allows XPD/ERCC2 helicase to anchor. In transcription, TFIIH has an essential role in transcription initiation. Location: Nucleus (UniProt). Locus 2q14.3 (HGNC).","whereFound":["Cervical cancer: IntOGen driver in 1 cohort (CESC)","Skin cancer: Open Targets association 0.54 with skin cancer (MONDO_0002898)","Ovarian cancer: Open Targets association 0.53 with ovarian cancer (MONDO_0008170)","Colorectal cancer: Open Targets association 0.52 with colorectal cancer (MONDO_0005575)","Melanoma: Open Targets association 0.55 with melanoma (MONDO_0005105); CIViC evidence names this disease","Non-small-cell lung cancer: CIViC evidence names this disease"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/ercc3/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"cervical","kind":"cancer","name":"Cervical cancer","route":"/cancers/cervical/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"nsclc","kind":"cancer","name":"Non-small-cell lung cancer","route":"/cancers/nsclc/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}