{"entity":{"id":"bcl11a","kind":"target","name":"BCL11A","aka":["BCL11 transcription factor A","BCL11A-XL","BCL11A-L","BCL11A-S","CTIP1","HBFQTL5","ZNF856","SMARCM1","EVI9"],"tldr":"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.","summary":"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.\n\nCIViC 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.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:13221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13221"},{"label":"UniProt Q9H165","url":"https://www.uniprot.org/uniprotkb/Q9H165/entry"},{"label":"NCBI Gene 53335","url":"https://www.ncbi.nlm.nih.gov/gene/53335"},{"label":"Ensembl ENSG00000119866","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000119866"}],"tags":["cancer-genes-wave"],"related":["civic","open-targets","intogen"],"cancers":["non-hodgkin-lymphoma","skin-cancer","breast-cancer","dlbcl","melanoma"],"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 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."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"BCL11A","role":["oncogene-driver","biomarker","fusion-partner"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:13221","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:13221","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q9H165","url":"https://www.uniprot.org/uniprotkb/Q9H165/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene BCL11A","url":"https://civicdb.org/features/12133","note":"1 evidence items, 0 assertions, 2 variants; diseases: Diffuse Large B-cell Lymphoma (GraphQL API, CC0)"},{"label":"Open Targets ENSG00000119866","url":"https://platform.opentargets.org/target/ENSG00000119866/associations","note":"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)"},{"label":"IntOGen BCL11A","url":"https://www.intogen.org/search?gene=BCL11A","note":"driver in 1 cohort (Act 1, LoF 0); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0"}],"hgnc":"HGNC:13221","ensembl":"ENSG00000119866","uniprot":"Q9H165","entrez":"53335","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).","whereFound":["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)"],"targetClass":"oncogene","prevalence":[]},"route":"/targets/bcl11a/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"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/"},{"id":"dlbcl","kind":"cancer","name":"Diffuse large B-cell lymphoma","route":"/cancers/dlbcl/"},{"id":"melanoma","kind":"cancer","name":"Melanoma","route":"/cancers/melanoma/"},{"id":"non-hodgkin-lymphoma","kind":"cancer","name":"Non-Hodgkin lymphoma (all types)","route":"/cancers/non-hodgkin-lymphoma/"},{"id":"skin-cancer","kind":"cancer","name":"Skin cancer (all types)","route":"/cancers/skin-cancer/"}]}}