{"entity":{"id":"tbx1","kind":"target","name":"TBX1","aka":["T-box transcription factor 1","T-box transcription factor TBX1","CATCH22"],"tldr":"TBX1 (T-box transcription factor TBX1) 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.","summary":"Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2.\n\nOpen Targets scores its association with cancer at 0.52 (direct and indirect evidence; datatypes literature 0.97, animal model 0.52, genetic association 0.64).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11592","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592"},{"label":"UniProt O43435","url":"https://www.uniprot.org/uniprotkb/O43435/entry"},{"label":"NCBI Gene 6899","url":"https://www.ncbi.nlm.nih.gov/gene/6899"},{"label":"Ensembl ENSG00000184058","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000184058"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":[],"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":"TBX1","role":[],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:11592","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11592","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O43435","url":"https://www.uniprot.org/uniprotkb/O43435/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000184058","url":"https://platform.opentargets.org/target/ENSG00000184058/associations","note":"association with cancer (MONDO_0004992) 0.52;  (GraphQL API, CC0)"}],"hgnc":"HGNC:11592","ensembl":"ENSG00000184058","uniprot":"O43435","entrez":"6899","biology":"Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development. Also involved in craniofacial muscle development. Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2. Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch. Required for hair follicle stem cell self-renewal. Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence. Location: Nucleus (UniProt). Locus 22q11.21 (HGNC).","whereFound":[],"targetClass":"transcription","prevalence":[]},"route":"/targets/tbx1/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}]}}