{"entity":{"id":"atrx","kind":"target","name":"ATRX","aka":["ATRX chromatin remodeler","Chromatin remodeler ATRX","XH2","RAD54","MRX52"],"tldr":"ATRX (Chromatin remodeler ATRX) is a protein that switches other genes on and off. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Sarcomas, Neuroendocrine tumours, Adrenocortical carcinoma and 5 more.","summary":"Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures.\n\nCIViC holds 11 clinical evidence items and 0 assertions across 6 variants, naming Temozolomide, Olaparib, Talazoparib and Cisplatin and others. Open Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes literature 0.98, affected pathway 0.61, genetic association 0.72, somatic mutation 0.98). IntOGen calls it a driver in 27 cohorts (2 activating, 25 loss-of-function), covering Adrenocortical Carcinoma, Chronic Lymphocytic Leukaemia/Small Lymphocytic Lymphoma, Glioblastoma, Glioblastoma Multiforme, High-Grade Glioma, NOS, Low-Grade Glioma, NOS and others.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886"},{"label":"UniProt P46100","url":"https://www.uniprot.org/uniprotkb/P46100/entry"},{"label":"NCBI Gene 546","url":"https://www.ncbi.nlm.nih.gov/gene/546"},{"label":"Ensembl ENSG00000085224","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000085224"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["sarcoma","neuroendocrine","adrenocortical","rcc","ovarian","breast-cancer","colorectal","skin-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":["telomere-maintenance"],"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 10 therapies; IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 25 cohorts; CIViC holds 11 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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Malignant Astrocytoma; High-Grade Glioma, NOS; Low-Grade Glioma, NOS."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"ATRX","role":["drug-target","oncogene-driver","tumour-suppressor","biomarker","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:886","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:886","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P46100","url":"https://www.uniprot.org/uniprotkb/P46100/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATRX","url":"https://civicdb.org/features/525","note":"11 evidence items, 0 assertions, 6 variants; diseases: Glioblastoma, Malignant Astrocytoma, Neuroblastoma, Osteosarcoma, Cancer and 1 more (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000085224","url":"https://platform.opentargets.org/target/ENSG00000085224/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: colorectal cancer 0.56, renal cell carcinoma 0.60, melanoma 0.59, glioblastoma 0.63, sarcoma 0.70, neuroendocrine neoplasm 0.63 (GraphQL API, CC0)"},{"label":"IntOGen ATRX","url":"https://www.intogen.org/search?gene=ATRX","note":"driver in 27 cohorts (Act 2, LoF 25); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:886","ensembl":"ENSG00000085224","uniprot":"P46100","entrez":"546","biology":"Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilising G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyses the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Location: Nucleus; Chromosome, telomere; Nucleus, PML body (UniProt). Locus Xq21.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.70 with sarcoma (MONDO_0005089); IntOGen driver in 5 cohorts (LMS, SARCNOS, SOFT_TISSUE)","Neuroendocrine tumours: Open Targets association 0.63 with neuroendocrine neoplasm (MONDO_0019496); IntOGen driver in 1 cohort (PANET)","Adrenocortical carcinoma: IntOGen driver in 3 cohorts (ACC)","Renal cell carcinoma: Open Targets association 0.60 with renal cell carcinoma (MONDO_0005086)","Ovarian cancer: IntOGen driver in 1 cohort (OVT)","Breast cancer: Open Targets association 0.56 with breast cancer (MONDO_0007254)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/atrx/","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":"adrenocortical","kind":"cancer","name":"Adrenocortical carcinoma","route":"/cancers/adrenocortical/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"colorectal","kind":"cancer","name":"Colorectal cancer","route":"/cancers/colorectal/"},{"id":"neuroendocrine","kind":"cancer","name":"Neuroendocrine tumours","route":"/cancers/neuroendocrine/"},{"id":"ovarian","kind":"cancer","name":"Ovarian cancer","route":"/cancers/ovarian/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}],"pathway":[{"id":"telomere-maintenance","kind":"pathway","name":"Telomere maintenance & replicative immortality","route":"/pathways/telomere-maintenance/"}]}}