CBFB
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.
Overview
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.
Open 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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · 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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Forms the heterodimeric complex core-binding factor (CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3).
- 3 · How drugs use it
No product in this corpus aims at CBFB yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
External identifiers
Sources: HGNC HGNC:1539 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q13951 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000067955 (association with cancer (MONDO_0004992) 0.75; per-cancer scores at or above 0.5: breast cancer 0.70 (GraphQL API, CC0)); IntOGen CBFB (driver in 5 cohorts (Act 2, LoF 3); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
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).
- Breast cancer: Open Targets association 0.70 with breast cancer (MONDO_0007254); IntOGen driver in 5 cohorts (BRCA)
Notes
top- 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.
Latest papers
topQuery for this target: (TITLE:"CBFB" OR ABSTRACT:"CBFB" OR TITLE:"core-binding factor subunit beta" OR ABSTRACT:"core-binding factor subunit beta" OR TITLE:"Core-binding factor subunit beta" OR ABSTRACT:"Core-binding factor subunit beta" OR TITLE:"PEBP2B" OR ABSTRACT:"PEBP2B") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about CBFB, not a curated reading list.