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This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Aug 2011]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]
Predicted intracellular proteins Transcription factors Basic domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001011 [transcription factor activity, sequence-specific DNA binding, RNA polymerase recruiting] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001087 [transcription factor activity, TFIIB-class binding] GO:0001093 [TFIIB-class transcription factor binding] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005667 [transcription factor complex] GO:0006352 [DNA-templated transcription, initiation] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0008022 [protein C-terminus binding] GO:0042803 [protein homodimerization activity] GO:0043425 [bHLH transcription factor binding] GO:0045666 [positive regulation of neuron differentiation] 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:0065004 [protein-DNA complex assembly] GO:0070888 [E-box binding]