{"entity":{"id":"atxn7","kind":"target","name":"ATXN7","aka":["ataxin 7","Ataxin-7","OPCA3","ADCAII","SGF73","SCA7"],"tldr":"ATXN7 (Ataxin-7) 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":"Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex. Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation. Probably involved in tethering the deubiquitination module within the SAGA complex.\n\nCIViC holds 4 clinical evidence items and 0 assertions across 5 variants.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:10560","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10560"},{"label":"UniProt O15265","url":"https://www.uniprot.org/uniprotkb/O15265/entry"},{"label":"NCBI Gene 6314","url":"https://www.ncbi.nlm.nih.gov/gene/6314"},{"label":"Ensembl ENSG00000163635","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000163635"}],"tags":["cancer-genes-wave"],"related":["civic"],"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 4 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":"ATXN7","role":["biomarker"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:10560","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10560","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O15265","url":"https://www.uniprot.org/uniprotkb/O15265/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene ATXN7","url":"https://civicdb.org/features/5112","note":"4 evidence items, 0 assertions, 5 variants; diseases: Thyroid Cancer, Thyroid Gland Carcinoma (GraphQL API, CC0)"}],"specificity":"broadly-expressed","distribution":"one-type","specificityNote":"Broadly expressed or essential: HPA finds the RNA at low tissue specificity; a medicine acting on the wild-type protein would expose normal tissue too. HPA ATXN7: RNA low tissue specificity; no normal tissue stained 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. (Rule 7 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"Human Protein Atlas ATXN7 tissue","url":"https://www.proteinatlas.org/ENSG00000163635-ATXN7/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000163635 associations","url":"https://platform.opentargets.org/target/ENSG00000163635/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:10560","ensembl":"ENSG00000163635","uniprot":"O15265","entrez":"6314","firstDescribed":1997,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: David et al, Nat. Genet, 1997, \"Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/9288099/","biology":"Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex. Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation. Probably involved in tethering the deubiquitination module within the SAGA complex. Necessary for microtubule cytoskeleton stabilisation. Involved in neurodegeneration. Location: Nucleus; Nucleus, nucleolus; Nucleus matrix; Cytoplasm, cytoskeleton (UniProt). Locus 3p14.1 (HGNC).","whereFound":["Thyroid cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/atxn7/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"thyroid","kind":"cancer","name":"Thyroid cancer","route":"/cancers/thyroid/"}]}}