{"entity":{"id":"pax6","kind":"target","name":"PAX6","aka":["paired box 6","Paired box protein Pax-6","D11S812E","AN1","AN2"],"tldr":"PAX6 (Paired box protein Pax-6) is a protein that switches other genes on and off. In the public catalogues the evidence so far is association rather than a proven role. Tied to Renal cell carcinoma.","summary":"Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters.\n\nOpen Targets scores its association with cancer at 0.82 (direct and indirect evidence; datatypes literature 0.98, animal model 0.87, genetic association 0.89, genetic literature 0.89).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620"},{"label":"UniProt P26367","url":"https://www.uniprot.org/uniprotkb/P26367/entry"},{"label":"NCBI Gene 5080","url":"https://www.ncbi.nlm.nih.gov/gene/5080"},{"label":"Ensembl ENSG00000007372","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000007372"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["rcc"],"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: none stated by the sources. 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":"PAX6","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:8620","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8620","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt P26367","url":"https://www.uniprot.org/uniprotkb/P26367/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000007372","url":"https://platform.opentargets.org/target/ENSG00000007372/associations","note":"association with cancer (MONDO_0004992) 0.82; per-cancer scores at or above 0.5: renal cell carcinoma 0.82 (GraphQL API, CC0)"}],"hgnc":"HGNC:8620","ensembl":"ENSG00000007372","uniprot":"P26367","entrez":"5080","biology":"Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells. Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains. Acts as a transcriptional repressor of NFATC1-mediated gene expression. Location: Nucleus (UniProt). Locus 11p13 (HGNC).","whereFound":["Renal cell carcinoma: Open Targets association 0.82 with renal cell carcinoma (MONDO_0005086)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/pax6/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"}]}}