{"entity":{"id":"cbfb","kind":"target","name":"CBFB","aka":["core-binding factor subunit beta","Core-binding factor subunit beta","PEBP2B"],"tldr":"CBFB (Core-binding factor subunit beta) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as an oncogene driver, a tumour suppressor and a fusion partner, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Breast cancer.","summary":"Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters.\n\nOpen Targets scores its association with cancer at 0.75 (direct and indirect evidence; datatypes affected pathway 0.25, literature 0.98, genetic association 0.19, somatic mutation 0.94, animal model 0.56). IntOGen calls it a driver in 5 cohorts (2 activating, 3 loss-of-function), covering Invasive Breast Carcinoma.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:1539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539"},{"label":"UniProt Q13951","url":"https://www.uniprot.org/uniprotkb/Q13951/entry"},{"label":"NCBI Gene 865","url":"https://www.ncbi.nlm.nih.gov/gene/865"},{"label":"Ensembl ENSG00000067955","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067955"}],"tags":["cancer-genes-wave"],"related":["open-targets","intogen"],"cancers":["breast-cancer"],"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: IntOGen calls it an activating (Act) driver in 2 cohorts; IntOGen calls it a loss-of-function (LoF) driver in 3 cohorts; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier \"cohort-driver\" 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":"CBFB","role":["oncogene-driver","tumour-suppressor","fusion-partner"],"evidenceTier":"cohort-driver","sources":[{"label":"HGNC HGNC:1539","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1539","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q13951","url":"https://www.uniprot.org/uniprotkb/Q13951/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"Open Targets ENSG00000067955","url":"https://platform.opentargets.org/target/ENSG00000067955/associations","note":"association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: breast cancer 0.70 (GraphQL API, CC0)"},{"label":"IntOGen CBFB","url":"https://www.intogen.org/search?gene=CBFB","note":"driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:1539","ensembl":"ENSG00000067955","uniprot":"Q13951","entrez":"865","biology":"Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNX members modulate the transcription of their target genes through recognising the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukaemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. The complex can also ubiquitinate APOBEC3H to some extent. Location: Nucleus (UniProt). Locus 16q22.1 (HGNC).","whereFound":["Breast cancer: Open Targets association 0.70 with breast cancer (MONDO_0007254); IntOGen driver in 5 cohorts (BRCA)"],"targetClass":"tumor-suppressor","prevalence":[]},"route":"/targets/cbfb/","neighbours":{"collection":[{"id":"intogen","kind":"collection","name":"IntOGen","route":"/collections/intogen/"},{"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/"}]}}