{"entity":{"id":"pax3","kind":"target","name":"PAX3","aka":["paired box 3","Paired box protein Pax-3","HUP2","PAX-3","WS1"],"tldr":"PAX3 (Paired box protein Pax-3) is a protein that switches other genes on and off. The public catalogues list it as a fusion partner, and the evidence so far is association rather than a proven role. Tied to Sarcomas and Rhabdomyosarcoma.","summary":"Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10.\n\nOpen Targets scores its association with cancer at 0.79 (direct and indirect evidence; datatypes genetic literature 0.61, affected pathway 0.40, literature 0.96, genetic association 0.75, somatic mutation 0.98, animal model 0.57).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8617","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8617"},{"label":"UniProt P23760","url":"https://www.uniprot.org/uniprotkb/P23760/entry"},{"label":"NCBI Gene 5077","url":"https://www.ncbi.nlm.nih.gov/gene/5077"},{"label":"Ensembl ENSG00000135903","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000135903"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["sarcoma","rhabdomyosarcoma"],"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: UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"association-only\" 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":"PAX3","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8617","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8617","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P23760","url":"https://www.uniprot.org/uniprotkb/P23760/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000135903","url":"https://platform.opentargets.org/target/ENSG00000135903/associations","note":"association with cancer (MONDO_0004992) 0.79; per-cancer scores at or above 0.5: sarcoma 0.77, rhabdomyosarcoma 0.74 (GraphQL API, CC0)"}],"hgnc":"HGNC:8617","ensembl":"ENSG00000135903","uniprot":"P23760","entrez":"5077","biology":"Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10. Location: Nucleus (UniProt). Locus 2q36.1 (HGNC).","whereFound":["Sarcomas: Open Targets association 0.77 with sarcoma (MONDO_0005089)","Rhabdomyosarcoma: Open Targets association 0.74 with rhabdomyosarcoma (MONDO_0005212)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/pax3/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"rhabdomyosarcoma","kind":"cancer","name":"Rhabdomyosarcoma","route":"/cancers/rhabdomyosarcoma/"},{"id":"sarcoma","kind":"cancer","name":"Sarcomas (soft tissue, bone, GIST)","route":"/cancers/sarcoma/"}]}}