Gene: BCL11B

Alternate names for this Gene: ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IDDFSTA|IMD49|RIT1|ZNF856B|hRIT1-alpha

Gene Summary: This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.2

Description of this Gene: BAF chromatin remodeling complex subunit BCL11B

Type of Gene: protein-coding

rs750610248 in BCL11B gene and Agenesis of corpus callosum PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

rs11624408 in BCL11B gene and Bipolar Disorder PMID 31043756 2019 Genome-wide association study identifies 30 loci associated with bipolar disorder.

rs2693686 in BCL11B gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

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

rs750610248 in BCL11B gene and Combined immunodeficiency PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

rs1314314373 in BCL11B gene and Dysmorphic features PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

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

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

rs750610248 in BCL11B gene and IMMUNODEFICIENCY 49 PMID 27959755 2016 Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

PMID 29985992 2018 BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

rs1314314373 in BCL11B gene and Multiple congenital anomalies PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

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

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

rs1314314373 in BCL11B gene and Muscle hypotonia PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

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

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

rs1314314373 in BCL11B gene and Overgrowth PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

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

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

rs1257415 in BCL11B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2693698 in BCL11B gene and Schizophrenia PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

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

PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

rs1405238 in BCL11B 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.