Liquid
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Lead Time
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Usage
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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 hemoglobin 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 hemoglobin (HbF) level. Involved in brain development. May play a role in hematopoiesis. Essential factor in lymphopoiesis required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of NR2F2.
Gene References into Functions
BCL11A interacts with histone methyltransferase (PRC2) and histone deacetylase (NuRD and SIN3A) complexes through their common subunit, RBBP4/7.PMID:29263092
BCL11A is integral to lung squamous cell carcinoma pathology and highlights the disruption of the BCL11A-SOX2 transcriptional programme as a novel candidate for drug development.PMID:30127402
High BCL11A and MDR1 expression was associated with a poor response to chemotherapy.PMID:29469608
miR-146a is a potential tumor suppressor gene in human neuroblastoma via directly targeting BCL11APMID:30077189
By perturbing BCL11A-DNMT1 interaction, miR-137 impairs cancer stemness and suppresses tumor development in Triple negative breast cancer.PMID:29975921
APOL1, alpha-thalassemia, and BCL11A variants as a genetic risk profile for progression of chronic kidney disease in sickle cell anemiaPMID:27658436
the coding mRNA sequence of BCL11A can be targeted by miR-210.PMID:29186860
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systemsPMID:28960836
IGF2BP1 mediates posttranscriptional loss of BCL11A in cultured human adult erythroblastsPMID:28652347
The expression levels of Bcl11a and Mdm2, Pten in B-ALL patients with CR were decreased significantly when compared with the healthy control (P < 0.05).PMID:28544358
Studied association of BCL11A single nucleotide polymorphisms(snps) and HBS1L-MYB Intergenic snps with Hereditary Persistence of Fetal Hemoglobin (HPFH) in a cohort of sickle cell patients.PMID:28332727
both BCL11A and HMIP-2 were associated with increased endogenous levels of HbF. Interestingly, we also found that BCL11A was associated with higher induction of HbF with HU.PMID:27838552
High BCL11A expression level was correlated with lower complete remission rate and shorter overall survival in adult acute myeloid leukemia patients.PMID:28164500
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.PMID:28891213
Ubiquitous knockdown of BCL11A in hematopoietic stem and progenitor cells impairs hematopoietic reconstitution after transplantation.PMID:27599293
BCL11A rs11886868 and rs4671393 genotype variations and correspondingly high BCL11A plasma levels are related to laryngeal squamous cell carcinoma, besides, differences in plasma levels and genotype distribution may be related to lymph node metastasis status and the stage of laryngeal squamous cell carcinoma.PMID:28225775
BCL11A may operate in transformation of CML from chronic to acute phase in some personsPMID:27285855
The BCL11A gene was found to be potentially targeted by 12 MicroRNAs that were up-regulated in Hereditary persistence of fetal hemoglobin deletion type-2 (HPFH-2) or in Sicilian deltabeta-thalassemia. A down-regulation of BCL11A gene expression in HPFH-2 was verified by quantitative polymerase chain reaction.PMID:27591578
The BCL11A protein is highly expressed in breast cancer and knock-down of BCL11A promotes the apoptosis of MDA-MB-231 cells.PMID:27774950
his study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the induction of HbF and ameliorates the severity of a-thalassaemia as well as sickle cell anaemia.PMID:27377501
report of an intellectual disability syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complexPMID:27453576
Reduced rate of sickle-related complications in Brazilian patients carrying HbF-promoting alleles at the BCL11A and HMIP-2 lociPMID:26888013
the association between modifier loci (beta-globin gene cluster, HBS1L-MYB intergenic region and BCL11A) and Hb F levels in Chinese Zhuang beta-TI patientsPMID:28361591
The combination of the genotypes GG and CT explains more phenotypic variance than the sum of the two BCL11A SNPs taken individually.PMID:27077760
our study suggests that FOXQ1 regulates prostate cancer cell proliferation and apoptosis by regulating BCL11A/MDM2 expression and indicates that FOXQ1 may serve as a potential therapeutic target for prostate cancer.PMID:27573292
this study aimed to find the effect of these genetic modifiers, especially in the XmnI locus, rs11886868, rs766432 (BCL11A), and rs9399137 (HBS1L-MYB), among beta thalassemia (beta-thal) and Hemoglobin E/beta-thal patients in Indonesia.PMID:27009595
The frequency of rs11886868 was determined in Colombian sickle cell anemia patients. It indicated an Amerindian ethnic background.PMID:26849705
Extensive genetic analyses have validated BCL11A as a potent repressor of fetal hemoglobin level. Studies of BCL11A exemplify how contextual gene regulation may often be the substrate for trait-associated common genetic variationPMID:26375765
Association has been found between variants at BCL11A erythroid-specific enhancer and fetal hemoglobin levels among sickle cell disease patients in Cameroon.PMID:26393293
These data suggest a possible role for BCL11A expression in acute myeloid leukaemia biologyPMID:26707798
only HbF inducer efficient in rescuing the ability to differentiate along the erythroid program, even in K562 cell clones expressing high levels of BCL11A-XL, suggesting that BCL11A-XL activity is counteracted by mithramycin.PMID:26342260
a successful induction of gamma-globin includes a reduction in BCL11A, KLF1 and TAL1 expression.PMID:26053062
this study found that LRF/ZBTB7A transcription factor occupies fetal gamma-globin genes and maintains the nucleosome density necessary for gamma-globin gene silencing in adults, and that LRF confers its repressive activity through a NuRD repressor complex independent of the fetal globin repressor BCL11A.PMID:26816381
BCL11A has an important role in triple-negative breast cancer and normal mammary epithelial cellsPMID:25574598
The study compares polymorphism at BCL11A to HBS1L-MYB loci and explains less of the variance in HbF in patients with sickle cell disease in Cameroon.PMID:25488618
Common HbF BCL11A enhancer haplotypes in patients with African origin and Arab-Indian sickle cell anemia have similar effects on HbF but they do not explain their differences in HbF.PMID:25703683
the study of these rare patients and orthogonal genetic data demonstrates that BCL11A plays a central role in silencing HbF in humans and implicates BCL11A as an important factor for neurodevelopmentPMID:25938782
SCF-mediated gamma-globin gene expression in adult human erythroid cells is associated with KLF1, BCL11A and SOX6 down-regulation.PMID:25457384
Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients.PMID:25457385
Genetic variants of BCL11A is associated with sickle cell disease.PMID:24667352
HbA2 levels were associated with SNPs in BCL11A, mediated by the association of this locus with gamma-globin gene expression and fetal hemoglobin levels.PMID:25042611
Twelve SNPs at the BCL11A gene were shown to modify HbF levels.PMID:24502199
Data suggest that segregation of BCL11A haplotype 2 indicating an involvement of this locus in Hb F expression.PMID:23777413
The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background.PMID:23541515
BCL11A overexpression predicts survival and relapse in non-small cell lung cancer and is modulated by microRNA-30a and gene amplification.PMID:23758992
Genome engineering reveals the enhancer is required in erythroid but not B-lymphoid cells for BCL11A expression.PMID:24115442
Immunohistochemical staining of mouse brain showed strong expression of BCL11A in the cortical regions and also in the pyramidal cell layers in the CA1 and CA3 regions of the hippocampus.PMID:23975195
BCL11A contains F/YSXXLXXL/Y motifs that mediate highly selective binding to the LBDs of orphan nuclear receptors NR2E1/TLX, NR2E3/PNR and the NR2F/COUP-TF family. These motifs are required for BCL11A/COUP-TFII-mediated repression of foetal globin genes and a lncRNA termed Bgl3. The motifs are conserved in other Nuclear receptor cofactors such as NSD1, constituting a new signature motif related to LXXLL and the CoRNR box.PMID:23975195
Regulators, including BCL11A,MYB, and KLF1, hold great promise to develop targeted and more effective approaches for HbF inductionPMID:23209159
BCL11A coordinates the hemoglobin switch and fetal hemoglobin silencing by assembling transcriptional corepressor complexes within the beta-globin cluster.PMID:23576758
Expressed at high levels in brain, spleen thymus, bone marrow and testis. Expressed in CD34-positive myeloid precursor cells, B-cells, monocytes and megakaryocytes. Expression is tightly regulated during B-cell development.; [Isoform 1]: Expressed in feta