{"entity":{"id":"pax8","kind":"target","name":"PAX8","aka":["paired box 8","Paired box protein Pax-8","PAX-8"],"tldr":"PAX8 (Paired box protein Pax-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 Thyroid cancer.","summary":"Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant. Open Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes affected pathway 0.37, literature 0.99, genetic association 0.50, somatic mutation 0.95, animal model 0.53).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:8622","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8622"},{"label":"UniProt Q06710","url":"https://www.uniprot.org/uniprotkb/Q06710/entry"},{"label":"NCBI Gene 7849","url":"https://www.ncbi.nlm.nih.gov/gene/7849"},{"label":"Ensembl ENSG00000125618","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000125618"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets"],"cancers":["thyroid"],"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.","Diseases the sources name that have no OnCo cancer page yet, so they are not linked: Female Reproductive Organ Cancer."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"PAX8","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:8622","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:8622","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q06710","url":"https://www.uniprot.org/uniprotkb/Q06710/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene PAX8","url":"https://civicdb.org/features/75","note":"1 evidence items, 0 assertions, 1 variants; diseases: Female Reproductive Organ Cancer (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000125618","url":"https://platform.opentargets.org/target/ENSG00000125618/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: thyroid cancer 0.61 (GraphQL API, CC0)"}],"distribution":"one-type","specificityNote":"Specificity not established: no corpus medicine is aimed at it and the catalogues give it only the role biomarker; HPA finds the RNA group enriched, which says where the protein sits but not whether the tumour differs from normal tissue. HPA PAX8: RNA group enriched (kidney 241 nTPM, thyroid gland 537 nTPM); high antibody staining in 4 normal tissues; highest cancer staining thyroid cancer (2 of 4 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Thyroid cancer); Open Targets associates it with 0 specific cancer types at or above 0.5. (No rule of scripts/fetch-target-specificity.ts fired.)","specificitySources":[{"label":"Human Protein Atlas PAX8 tissue","url":"https://www.proteinatlas.org/ENSG00000125618-PAX8/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000125618 associations","url":"https://platform.opentargets.org/target/ENSG00000125618/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:8622","ensembl":"ENSG00000125618","uniprot":"Q06710","entrez":"7849","firstDescribed":1992,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Poleev et al, Development, 1992, \"PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/1337742/","biology":"Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. Location: Nucleus (UniProt). Locus 2q14.1 (HGNC).","whereFound":["Thyroid cancer: Open Targets association 0.61 with thyroid cancer (MONDO_0002108)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/pax8/","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":"thyroid","kind":"cancer","name":"Thyroid cancer","route":"/cancers/thyroid/"}]}}