Variant: rs1314314373 

    present in Gene: BCL11B
    present in Chromosome: 14
    Position on Chromosome: 99176115
    Alleles of this Variant: G/A;C

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.

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.