{"entity":{"id":"cbfa2t3","kind":"target","name":"CBFA2T3","aka":["CBFA2/RUNX1 partner transcriptional co-repressor 3","Transcriptional corepressor CBFA2T3","MTGR2","ZMYND4","MTG16","RUNX1T3","ETO2"],"tldr":"CBFA2T3 (Transcriptional corepressor CBFA2T3) 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 Leukaemia, Breast cancer, Lung cancer and 2 more.","summary":"Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway.\n\nOpen Targets scores its association with cancer at 0.71 (direct and indirect evidence; datatypes literature 0.85, animal model 0.49, genetic association 0.52, somatic mutation 0.97).","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1537","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1537"},{"label":"UniProt O75081","url":"https://www.uniprot.org/uniprotkb/O75081/entry"},{"label":"NCBI Gene 863","url":"https://www.ncbi.nlm.nih.gov/gene/863"},{"label":"Ensembl ENSG00000129993","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000129993"}],"tags":["cancer-genes-wave"],"related":["open-targets"],"cancers":["leukaemia","breast-cancer","lung-cancer","skin-cancer","myeloproliferative-neoplasms"],"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":"CBFA2T3","role":["fusion-partner"],"evidenceTier":"association-only","sources":[{"label":"HGNC HGNC:1537","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1537","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt O75081","url":"https://www.uniprot.org/uniprotkb/O75081/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000129993","url":"https://platform.opentargets.org/target/ENSG00000129993/associations","note":"association with cancer (MONDO_0004992) 0.71; per-cancer scores at or above 0.5: skin cancer 0.51, myeloproliferative neoplasm 0.50, breast cancer 0.52, lung cancer 0.52, leukaemia 0.54 (GraphQL API, CC0)"}],"hgnc":"HGNC:1537","ensembl":"ENSG00000129993","uniprot":"O75081","entrez":"863","biology":"Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Can repress the expression of MMP7 in a ZBTB33-dependent manner. Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway. Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A. Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Plays a role in granulocyte differentiation. Location: Nucleus; Nucleus, nucleolus; Nucleus, nucleoplasm; Golgi apparatus membrane (UniProt). Locus 16q24.3 (HGNC).","whereFound":["Leukaemia: Open Targets association 0.54 with leukaemia (MONDO_0005059)","Breast cancer: Open Targets association 0.52 with breast cancer (MONDO_0007254)","Lung cancer: Open Targets association 0.52 with lung cancer (MONDO_0008903)","Skin cancer: Open Targets association 0.51 with skin cancer (MONDO_0002898)","Myeloproliferative neoplasms: Open Targets association 0.50 with myeloproliferative neoplasm (MONDO_0020076)"],"targetClass":"transcription","prevalence":[]},"route":"/targets/cbfa2t3/","neighbours":{"collection":[{"id":"open-targets","kind":"collection","name":"Open Targets Platform","route":"/collections/open-targets/"}],"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"},{"id":"leukaemia","kind":"cancer","name":"Leukaemia (all types)","route":"/cancers/leukaemia/"},{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"},{"id":"myeloproliferative-neoplasms","kind":"cancer","name":"Myeloproliferative neoplasms (PV, ET, myelofibrosis)","route":"/cancers/myeloproliferative-neoplasms/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}