BCL11A
BCL11A (BCL11 transcription factor A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Skin cancer, Breast cancer and 2 more.
Overview
Transcription factor. Associated with the BAF SWI/SNF chromatin remodeling complex. Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 haemoglobin subunit gamma-1 gene.
CIViC holds 1 clinical evidence item and 0 assertions across 2 variants. Open Targets scores its association with cancer at 0.78 (direct and indirect evidence; datatypes literature 0.95, affected pathway 0.83, genetic association 0.53, somatic mutation 0.98). IntOGen calls it a driver in 1 cohort (1 activating, 0 loss-of-function), covering Non-Hodgkin Lymphoma.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
In plain words · BCL11A (BCL11 transcription factor A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Skin cancer, Breast cancer and 2 more.
- 1 · What it is
BCL11A (BCL11 transcription factor A) is a gene that drives cell growth when it is altered. The public catalogues list it as an oncogene driver, a biomarker and a fusion partner, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Skin cancer, Breast cancer and 2 more.
- 2 · What goes wrong in cancer
Transcription factor. Associated with the BAF SWI/SNF chromatin remodeling complex.
- 3 · How drugs use it
No product in this corpus aims at BCL11A yet. Drugs fit a pocket that exists only in one shape of the mutant protein and hold it there, off.
External identifiers
Sources: HGNC HGNC:13221 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q9H165 (protein name, function text, keywords and locations (REST API)); CIViC gene BCL11A (1 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)); Open Targets ENSG00000119866 (association with cancer (MONDO_0004992) 0.78; per-cancer scores at or above 0.5: melanoma 0.56, skin cancer 0.56, breast cancer 0.53 (GraphQL API, CC0)); IntOGen BCL11A (driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Biology
Transcription factor. Associated with the BAF SWI/SNF chromatin remodeling complex. Binds to the 5'-TGACCA-3' sequence motif in regulatory regions of target genes, including a distal promoter of the HBG1 haemoglobin subunit gamma-1 gene. Involved in regulation of the developmental switch from gamma- to beta-globin, probably via direct repression of HBG1; hence indirectly repressing fetal haemoglobin (HbF) level. Involved in brain development. May play a role in haematopoiesis. Location: Cytoplasm; Nucleus; Chromosome; Nucleus matrix (UniProt). Locus 2p16.1 (HGNC).
- Non-Hodgkin lymphoma: IntOGen driver in 1 cohort (NHL)
- Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)
- Breast cancer: Open Targets association 0.53 with breast cancer (MONDO_0007254)
- Diffuse large B-cell lymphoma: CIViC evidence names this disease
- Melanoma: Open Targets association 0.56 with melanoma (MONDO_0005105)
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 1 cohort; CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene. Evidence tier "clinical-evidence" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery for this target: (TITLE:"BCL11A" OR ABSTRACT:"BCL11A" OR TITLE:"BCL11 transcription factor A" OR ABSTRACT:"BCL11 transcription factor A" OR TITLE:"BCL11A-XL" OR ABSTRACT:"BCL11A-XL" OR TITLE:"BCL11A-L" OR ABSTRACT:"BCL11A-L" OR TITLE:"BCL11A-S" OR ABSTRACT:"BCL11A-S" OR TITLE:"CTIP1" OR ABSTRACT:"CTIP1") 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 BCL11A, not a curated reading list.