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This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]
Predicted intracellular proteins Plasma proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0002326 [B cell lineage commitment] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0008134 [transcription factor binding] GO:0030183 [B cell differentiation] GO:0030890 [positive regulation of B cell proliferation] GO:0031435 [mitogen-activated protein kinase kinase kinase binding] GO:0033152 [immunoglobulin V(D)J recombination] GO:0035326 [enhancer binding] GO:0042692 [muscle cell differentiation] GO:0042803 [protein homodimerization activity] GO:0043234 [protein complex] GO:0043425 [bHLH transcription factor binding] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045666 [positive regulation of neuron differentiation] GO:0045787 [positive regulation of cell cycle] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046982 [protein heterodimerization activity] GO:0046983 [protein dimerization activity] GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] GO:0051149 [positive regulation of muscle cell differentiation] GO:0070491 [repressing transcription factor binding] GO:0070644 [vitamin D response element binding] GO:0070888 [E-box binding] GO:0090575 [RNA polymerase II transcription factor complex] GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
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GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation]
Predicted intracellular proteins Plasma proteins Transcription factors Basic domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000788 [nuclear nucleosome] GO:0000790 [nuclear chromatin] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001779 [natural killer cell differentiation] GO:0002326 [B cell lineage commitment] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0008134 [transcription factor binding] GO:0010628 [positive regulation of gene expression] GO:0030098 [lymphocyte differentiation] GO:0030183 [B cell differentiation] GO:0030890 [positive regulation of B cell proliferation] GO:0031435 [mitogen-activated protein kinase kinase kinase binding] GO:0032496 [response to lipopolysaccharide] GO:0033077 [T cell differentiation in thymus] GO:0033152 [immunoglobulin V(D)J recombination] GO:0035326 [enhancer binding] GO:0042493 [response to drug] GO:0042692 [muscle cell differentiation] GO:0042803 [protein homodimerization activity] GO:0043234 [protein complex] GO:0043425 [bHLH transcription factor binding] GO:0043565 [sequence-specific DNA binding] GO:0043966 [histone H3 acetylation] GO:0043967 [histone H4 acetylation] GO:0044212 [transcription regulatory region DNA binding] GO:0045666 [positive regulation of neuron differentiation] GO:0045787 [positive regulation of cell cycle] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046982 [protein heterodimerization activity] GO:0046983 [protein dimerization activity] GO:0048468 [cell development] GO:0048541 [Peyer's patch development] GO:0050821 [protein stabilization] GO:0051091 [positive regulation of sequence-specific DNA binding transcription factor activity] GO:0051149 [positive regulation of muscle cell differentiation] GO:0070491 [repressing transcription factor binding] GO:0070644 [vitamin D response element binding] GO:0070888 [E-box binding] GO:0090575 [RNA polymerase II transcription factor complex] GO:2000045 [regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0045666 [positive regulation of neuron differentiation] GO:0046983 [protein dimerization activity]