{"entity":{"id":"pax5","kind":"target","name":"PAX5","aka":["paired box 5","Paired box protein Pax-5","PAX-5"],"tldr":"PAX5 (Paired box protein Pax-5) is a protein that switches other genes on and off. The public catalogues list it as an oncogene driver, a tumour suppressor, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Leukaemia, Breast cancer and 5 more.","summary":"Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage. Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes. In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signalling and promotes development to the mature B-cell stage.\n\nCIViC holds 5 clinical evidence items and 1 assertion across 2 variants. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.98, animal model 0.27, genetic association 0.45, somatic mutation 0.83). IntOGen calls it a driver in 2 cohorts (1 activating, 1 loss-of-function), covering Diffuse Large B-Cell Lymphoma, NOS, Prostate Adenocarcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8619"},{"label":"UniProt Q02548","url":"https://www.uniprot.org/uniprotkb/Q02548/entry"},{"label":"NCBI Gene 5079","url":"https://www.ncbi.nlm.nih.gov/gene/5079"},{"label":"Ensembl ENSG00000196092","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000196092"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","leukaemia","breast-cancer","skin-cancer","prostate","lung-cancer","all-leukemia","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: IntOGen calls it an activating (Act) driver in 1 cohort; IntOGen calls it a loss-of-function (LoF) driver in 1 cohort; CIViC holds 5 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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: B-lymphoblastic Leukaemia With PAX5 P.P80R."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX5","role":["oncogene-driver","tumour-suppressor","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8619","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8619","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q02548","url":"https://www.uniprot.org/uniprotkb/Q02548/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PAX5","url":"https://civicdb.org/features/4111","note":"5 evidence items, 1 assertions, 2 variants; diseases: B-lymphoblastic Leukaemia With PAX5 P.P80R, B-lymphoblastic Leukaemia/lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000196092","url":"https://platform.opentargets.org/target/ENSG00000196092/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: melanoma 0.56, acute lymphoblastic leukaemia 0.67, non-Hodgkin lymphoma 0.71, skin cancer 0.57, breast cancer 0.61, lung cancer 0.54 (GraphQL API, CC0)"},{"label":"IntOGen PAX5","url":"https://www.intogen.org/search?gene=PAX5","note":"driver in 2 cohorts (Act 1, LoF 1); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:8619","ensembl":"ENSG00000196092","uniprot":"Q02548","entrez":"5079","biology":"Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage. Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes. In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signalling and promotes development to the mature B-cell stage. Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire. Also participates in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity. Location: Nucleus (UniProt). Locus 9p13.2 (HGNC).","whereFound":["Non-Hodgkin lymphoma: Open Targets association 0.71 with non-Hodgkin lymphoma (MONDO_0018908)","Leukaemia: Open Targets association 0.69 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.61 with breast cancer (MONDO_0007254)","Skin cancer: Open Targets association 0.57 with skin cancer (MONDO_0002898)","Prostate cancer: IntOGen driver in 1 cohort (PRAD)","Lung cancer: Open Targets association 0.54 with lung cancer (MONDO_0008903)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/pax5/","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":"all-leukemia","kind":"cancer","name":"Acute lymphoblastic leukaemia","route":"/cancers/all-leukemia/"},{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-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":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"prostate","kind":"cancer","name":"Prostate cancer","route":"/cancers/prostate/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}