Gene: BCL11A

Alternate names for this Gene: BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856

Gene Summary: This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.1

Description of this Gene: BAF chromatin remodeling complex subunit BCL11A

Type of Gene: protein-coding

rs10172646 in BCL11A gene and Anemia, Sickle Cell PMID 21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

PMID 25372704 2014 Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

PMID 23406172 2013 Genetic determinants of haemolysis in sickle cell anaemia.

PMID 25042611 2014 The genetics of hemoglobin A2 regulation in sickle cell anemia.

rs2556378 in BCL11A gene and Benign Prostatic Hyperplasia PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs10189857 in BCL11A gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs45600937 in BCL11A gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10189857 in BCL11A gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs1553352926 in BCL11A gene and Dysmorphic features PMID 28960836 2018 BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

PMID 28589569 2018 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

PMID 25979662 2016 Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25938782 2015 BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

PMID 15548577 2004 The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 20623620 2010 X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.

PMID 22491945 2012 Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.

PMID 23230003 2012 Bcl11a is essential for lymphoid development and negatively regulates p53.

PMID 12717432 2003 Bcl11a is essential for normal lymphoid development.

PMID 17021036 2006 COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.

PMID 17964244 2007 Area patterning of the mammalian cortex.

PMID 26182416 2015 Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

PMID 19616629 2009 Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.

PMID 16704730 2006 Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.

PMID 11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PMID 24810580 2014 De novo microdeletion of BCL11A is associated with severe speech sound disorder.

PMID 10744719 2000 Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.

PMID 12196208 2002 COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.

PMID 11161790 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.

rs7579014 in BCL11A gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs10172646 in BCL11A gene and Fetal hemoglobin determination PMID 17767159 2007 A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.

PMID 18245381 2008 Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.

PMID 21326311 2011 Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

PMID 22936743 2012 Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

PMID 18245381 2008 Among major variants affecting HbF levels, SNP rs11886868 in the BCL11A gene was strongly associated with this trait (P < 10(-35)).

PMID 25372704 2014 Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.

PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

PMID 20018918 2010 Genome-wide association studies also validated a previously identified SNP (rs766432) in BCL11A, a gene known to affect fetal hemoglobin levels (P = 2.6E-21) and in Thailand and Hong Kong subjects.

PMID 27022141 2016 Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.

PMID 21326311 2011 Recently, BCL11A (zinc-finger protein) was identified as a regulator of HbF, and the strongest association signals were observed either directly for rs766432 or for correlated single-nucleotide polymorphisms (SNPs).

rs45625438 in BCL11A gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs766432 in BCL11A gene and Hemoglobin A2 measurement PMID 25042611 2014 The genetics of hemoglobin A2 regulation in sickle cell anemia.

rs766432 in BCL11A gene and Hemoglobin E disease PMID 20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.

rs4671393 in BCL11A gene and Hemoglobin measurement PMID 26366553 2015 Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

rs886037864 in BCL11A gene and INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

PMID 30250039 2018 Functional characterization of TBR1 variants in neurodevelopmental disorder.

rs10189857 in BCL11A gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29186694 2017 Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs2556378 in BCL11A gene and Lower Urinary Tract Symptoms PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs6729815 in BCL11A gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1553352926 in BCL11A gene and Muscle hypotonia PMID 25938782 2015 BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.

PMID 26182416 2015 Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25979662 2016 Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

PMID 28960836 2018 BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.

PMID 22491945 2012 Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.

PMID 28589569 2018 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 23230003 2012 Bcl11a is essential for lymphoid development and negatively regulates p53.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24810580 2014 De novo microdeletion of BCL11A is associated with severe speech sound disorder.

PMID 16704730 2006 Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.

PMID 17964244 2007 Area patterning of the mammalian cortex.

PMID 11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PMID 10744719 2000 Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.

PMID 19616629 2009 Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.

PMID 20623620 2010 X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.

PMID 11161790 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.

PMID 17021036 2006 COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.

PMID 12196208 2002 COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.

PMID 15548577 2004 The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.

PMID 12717432 2003 Bcl11a is essential for normal lymphoid development.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

rs2556375 in BCL11A gene and Prostate specific antigen measurement PMID 28139693 2017 Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.

PMID 30410027 2018 Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA.

rs7606173 in BCL11A gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13019832 in BCL11A gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7606173 in BCL11A gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34211119 in BCL11A gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs7599488 in BCL11A gene and Schizophrenia PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs10189857 in BCL11A gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.