{"entity":{"id":"irf8","kind":"target","name":"IRF8","aka":["interferon regulatory factor 8","Interferon regulatory factor 8","IRF-8","ICSBP","ICSBP1"],"tldr":"IRF8 (Interferon regulatory factor 8) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Leukaemia, Non-Hodgkin lymphoma and Diffuse large B-cell lymphoma.","summary":"Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Can both act as a transcriptional activator or repressor. Plays a negative regulatory role in cells of the immune system.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:5358","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358"},{"label":"UniProt Q02556","url":"https://www.uniprot.org/uniprotkb/Q02556/entry"},{"label":"NCBI Gene 3394","url":"https://www.ncbi.nlm.nih.gov/gene/3394"},{"label":"Ensembl ENSG00000140968","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000140968"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["leukaemia","non-hodgkin-lymphoma","dlbcl"],"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 1 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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"IRF8","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:5358","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5358","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02556","url":"https://www.uniprot.org/uniprotkb/Q02556/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene IRF8","url":"https://civicdb.org/features/2836","note":"1 evidence items, 0 assertions, 1 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000140968","url":"https://platform.opentargets.org/target/ENSG00000140968/associations","note":"per-cancer scores at or above 0.5: non-Hodgkin lymphoma 0.51, leukaemia 0.56 (GraphQL API, CC0)"}],"distribution":"few-types","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA tissue enhanced, which says where the protein sits but not whether the tumour differs from normal tissue. HPA IRF8: RNA tissue enhanced (lymphoid tissue 196 nTPM); blood lineage lineage enriched (dendritic cells 2,405 nTPM); high antibody staining in 4 normal tissues; highest cancer staining glioma (1 of 11 high). Distribution: 2 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Leukaemia, Lymphoma); Open Targets associates it with 1 specific cancer type at or above 0.5 (B-cell chronic lymphocytic leukemia). (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas IRF8 tissue","url":"https://www.proteinatlas.org/ENSG00000140968-IRF8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000140968 associations","url":"https://platform.opentargets.org/target/ENSG00000140968/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:5358","ensembl":"ENSG00000140968","uniprot":"Q02556","entrez":"3394","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Weisz et al, J. Biol. Chem, 1992, \"Human interferon consensus sequence binding protein is a negative regulator of enhancer elements common to interferon-inducible genes\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1460054/","biology":"Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)). Can both act as a transcriptional activator or repressor. Plays a negative regulatory role in cells of the immune system. Involved in CD8(+) dendritic cell differentiation by forming a complex with the BATF-JUNB heterodimer in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF8 and activation of genes. Required for the development of plasmacytoid dendritic cells (pDCs), which produce most of the type I IFN in response to viral infection. Positively regulates macroautophagy in dendritic cells. Location: Nucleus; Cytoplasm (UniProt). Locus 16q24.1 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.56 with leukaemia (MONDO_0005059)","Non-Hodgkin lymphoma: Open Targets association 0.51 with non-Hodgkin lymphoma (MONDO_0018908)","Diffuse large B-cell lymphoma: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/irf8/","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":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"}]}}