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The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
SPOCTOPUS predicted membrane 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:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000976 [transcription regulatory region sequence-specific DNA binding] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0000987 [core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001822 [kidney development] GO:0003404 [optic vesicle morphogenesis] GO:0003409 [optic cup structural organization] GO:0003682 [chromatin binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005794 [Golgi apparatus] GO:0005813 [centrosome] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007605 [sensory perception of sound] GO:0008285 [negative regulation of cell proliferation] GO:0010628 [positive regulation of gene expression] GO:0010842 [retina layer formation] GO:0010944 [negative regulation of transcription by competitive promoter binding] GO:0021559 [trigeminal nerve development] GO:0021623 [oculomotor nerve formation] GO:0030501 [positive regulation of bone mineralization] GO:0035115 [embryonic forelimb morphogenesis] GO:0042472 [inner ear morphogenesis] GO:0042803 [protein homodimerization activity] GO:0043066 [negative regulation of apoptotic process] GO:0043231 [intracellular membrane-bounded organelle] GO:0043525 [positive regulation of neuron apoptotic process] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045595 [regulation of cell differentiation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0060021 [palate development] GO:0060349 [bone morphogenesis] GO:0061029 [eyelid development in camera-type eye] GO:0070172 [positive regulation of tooth mineralization] GO:0071281 [cellular response to iron ion] GO:2000378 [negative regulation of reactive oxygen species metabolic process]
SPOCTOPUS predicted membrane proteins 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:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000976 [transcription regulatory region sequence-specific DNA binding] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0000987 [core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001822 [kidney development] GO:0003404 [optic vesicle morphogenesis] GO:0003409 [optic cup structural organization] GO:0003682 [chromatin binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005794 [Golgi apparatus] GO:0005813 [centrosome] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007605 [sensory perception of sound] GO:0008285 [negative regulation of cell proliferation] GO:0010628 [positive regulation of gene expression] GO:0010842 [retina layer formation] GO:0010944 [negative regulation of transcription by competitive promoter binding] GO:0021559 [trigeminal nerve development] GO:0021623 [oculomotor nerve formation] GO:0030501 [positive regulation of bone mineralization] GO:0035115 [embryonic forelimb morphogenesis] GO:0042472 [inner ear morphogenesis] GO:0042803 [protein homodimerization activity] GO:0043066 [negative regulation of apoptotic process] GO:0043231 [intracellular membrane-bounded organelle] GO:0043525 [positive regulation of neuron apoptotic process] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045595 [regulation of cell differentiation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0060021 [palate development] GO:0060349 [bone morphogenesis] GO:0061029 [eyelid development in camera-type eye] GO:0070172 [positive regulation of tooth mineralization] GO:0071281 [cellular response to iron ion] GO:2000378 [negative regulation of reactive oxygen species metabolic process]
SPOCTOPUS predicted membrane proteins 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:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000976 [transcription regulatory region sequence-specific DNA binding] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0000982 [transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0000987 [core promoter proximal region sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001822 [kidney development] GO:0003404 [optic vesicle morphogenesis] GO:0003409 [optic cup structural organization] GO:0003682 [chromatin binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005794 [Golgi apparatus] GO:0005813 [centrosome] GO:0005829 [cytosol] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007605 [sensory perception of sound] GO:0008134 [transcription factor binding] GO:0008285 [negative regulation of cell proliferation] GO:0009414 [response to water deprivation] GO:0010033 [response to organic substance] GO:0010628 [positive regulation of gene expression] GO:0010842 [retina layer formation] GO:0010944 [negative regulation of transcription by competitive promoter binding] GO:0014044 [Schwann cell development] GO:0021559 [trigeminal nerve development] GO:0021623 [oculomotor nerve formation] GO:0030501 [positive regulation of bone mineralization] GO:0032496 [response to lipopolysaccharide] GO:0035115 [embryonic forelimb morphogenesis] GO:0042472 [inner ear morphogenesis] GO:0042803 [protein homodimerization activity] GO:0043066 [negative regulation of apoptotic process] GO:0043231 [intracellular membrane-bounded organelle] GO:0043525 [positive regulation of neuron apoptotic process] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045595 [regulation of cell differentiation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046983 [protein dimerization activity] GO:0048701 [embryonic cranial skeleton morphogenesis] GO:0060021 [palate development] GO:0060349 [bone morphogenesis] GO:0061029 [eyelid development in camera-type eye] GO:0070172 [positive regulation of tooth mineralization] GO:0071281 [cellular response to iron ion] GO:2000378 [negative regulation of reactive oxygen species metabolic process]