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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.
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.
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.
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.
Transcription factor. Associated with the BAF SWI/SNF chromatin remodeling complex.
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.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA BCL11A: RNA tissue enhanced (brain 49 nTPM, lymphoid tissue 38 nTPM, skin 1 45 nTPM); blood lineage group enriched (B-cells 418 nTPM, dendritic cells 902 nTPM); high antibody staining in 3 normal tissues; highest cancer staining head and neck cancer (2 of 4 high). Distribution: 3 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Lymphoma, Skin cancer (all types), Breast cancer (all types)); Open Targets associates it with 1 specific cancer type at or above 0.5 (benign prostatic hyperplasia). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt Q9H165; CIViC gene BCL11A; IntOGen BCL11A; Human Protein Atlas BCL11A tissue; Open Targets ENSG00000119866 associations
First described 2000. Earliest sequence paper UniProt cites for the protein: Saiki et al, Genomics, 2000, "Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells". Source.
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)
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).
RNA: tissue enhanced (brain 49 nTPM, lymphoid tissue 38 nTPM, skin 1 45 nTPM), detected in many normal tissues. Blood: group enriched (B-cells 418 nTPM, dendritic cells 902 nTPM).
Medium: Appendix, Cervix, Esophagus, Fallopian tube, Kidney, Oral mucosa, Skin, Stomach.
Medium only: carcinoid, cervical cancer, colorectal cancer, endometrial cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query 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.