{"entity":{"id":"ddx41","kind":"target","name":"DDX41","aka":["DEAD-box helicase 41","Probable ATP-dependent RNA helicase DDX41","MGC8828"],"tldr":"DDX41 (Probable ATP-dependent RNA helicase DDX41) is an enzyme. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Myeloproliferative neoplasms, Myelodysplastic syndromes / neoplasms and 1 more.","summary":"Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and haematopoietic homeostasis. Recognises foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses.\n\nCIViC holds 11 clinical evidence items and 1 assertion across 4 variants. Open Targets scores its association with cancer at 0.77 (direct and indirect evidence; datatypes literature 0.93, genetic association 0.94, genetic literature 0.76).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:18674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18674"},{"label":"UniProt Q9UJV9","url":"https://www.uniprot.org/uniprotkb/Q9UJV9/entry"},{"label":"NCBI Gene 51428","url":"https://www.ncbi.nlm.nih.gov/gene/51428"},{"label":"Ensembl ENSG00000183258","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000183258"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","myeloproliferative-neoplasms","mds","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: CIViC holds 11 clinical evidence items on its variants. 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: Myeloid Neoplasm; Haematologic Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"DDX41","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:18674","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18674","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9UJV9","url":"https://www.uniprot.org/uniprotkb/Q9UJV9/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene DDX41","url":"https://civicdb.org/features/11932","note":"11 evidence items, 1 assertions, 4 variants; diseases: Myeloid Neoplasm, Acute Myeloid Leukaemia, Myelodysplastic Syndrome, Haematologic Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000183258","url":"https://platform.opentargets.org/target/ENSG00000183258/associations","note":"association with cancer (MONDO_0004992) 0.77; per-cancer scores at or above 0.5: acute myeloid leukaemia 0.72, myelodysplastic syndrome 0.69, myeloproliferative neoplasm 0.77, leukaemia 0.77 (GraphQL API, CC0)"}],"hgnc":"HGNC:18674","ensembl":"ENSG00000183258","uniprot":"Q9UJV9","entrez":"51428","biology":"Multifunctional protein that participates in many aspects of cellular RNA metabolism. Plays pivotal roles in innate immune sensing and haematopoietic homeostasis. Recognises foreign or self-nucleic acids generated during microbial infection, thereby initiating anti-pathogen responses. Mechanistically, phosphorylation by BTK allows binding to dsDNA leading to interaction with STING1. Modulates the homeostasis of dsDNA through its ATP-dependent DNA-unwinding activity and ATP-independent strand-annealing activity. In turn, induces STING1-mediated type I interferon and cytokine responses to DNA and DNA viruses. Location: Nucleus; Cytoplasm (UniProt). Locus 5q35.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.77 with leukaemia (MONDO_0005059)","Myeloproliferative neoplasms: Open Targets association 0.77 with myeloproliferative neoplasm (MONDO_0020076)","Myelodysplastic syndromes / neoplasms: Open Targets association 0.69 with myelodysplastic syndrome (MONDO_0018881); CIViC evidence names this disease","Acute myeloid leukaemia: Open Targets association 0.72 with acute myeloid leukaemia (MONDO_0018874); CIViC evidence names this disease"],"targetClass":"enzyme","prevalence":[]},"route":"/targets/ddx41/","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":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"}]}}