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This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Frameshift Mutations 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: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:0001085 [RNA polymerase II transcription factor binding] GO:0001102 [RNA polymerase II activating transcription factor binding] GO:0001501 [skeletal system development] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0007569 [cell aging] GO:0008284 [positive regulation of cell proliferation] GO:0008595 [anterior/posterior axis specification, embryo] GO:0009887 [organ morphogenesis] GO:0030539 [male genitalia development] GO:0030540 [female genitalia development] GO:0030879 [mammary gland development] GO:0032275 [luteinizing hormone secretion] GO:0035115 [embryonic forelimb morphogenesis] GO:0035136 [forelimb morphogenesis] GO:0042733 [embryonic digit morphogenesis] GO:0043066 [negative regulation of apoptotic process] GO:0043565 [sequence-specific DNA binding] GO:0045662 [negative regulation of myoblast differentiation] GO:0045787 [positive regulation of cell cycle] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0046884 [follicle-stimulating hormone secretion] GO:0048332 [mesoderm morphogenesis] GO:0090398 [cellular senescence]
SCAMPI predicted membrane proteins Predicted intracellular proteins Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Frameshift Mutations 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: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:0001085 [RNA polymerase II transcription factor binding] GO:0001102 [RNA polymerase II activating transcription factor binding] GO:0001501 [skeletal system development] GO:0001568 [blood vessel development] GO:0001701 [in utero embryonic development] GO:0001947 [heart looping] GO:0003007 [heart morphogenesis] GO:0003151 [outflow tract morphogenesis] GO:0003167 [atrioventricular bundle cell differentiation] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0007569 [cell aging] GO:0008284 [positive regulation of cell proliferation] GO:0008595 [anterior/posterior axis specification, embryo] GO:0009887 [organ morphogenesis] GO:0010159 [specification of organ position] GO:0019827 [stem cell population maintenance] GO:0021761 [limbic system development] GO:0030539 [male genitalia development] GO:0030540 [female genitalia development] GO:0030857 [negative regulation of epithelial cell differentiation] GO:0030879 [mammary gland development] GO:0032275 [luteinizing hormone secretion] GO:0035050 [embryonic heart tube development] GO:0035108 [limb morphogenesis] GO:0035115 [embryonic forelimb morphogenesis] GO:0035116 [embryonic hindlimb morphogenesis] GO:0035136 [forelimb morphogenesis] GO:0042127 [regulation of cell proliferation] GO:0042733 [embryonic digit morphogenesis] GO:0043066 [negative regulation of apoptotic process] GO:0043565 [sequence-specific DNA binding] GO:0045662 [negative regulation of myoblast differentiation] GO:0045787 [positive regulation of cell cycle] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046884 [follicle-stimulating hormone secretion] GO:0048332 [mesoderm morphogenesis] GO:0055007 [cardiac muscle cell differentiation] GO:0060021 [palate development] GO:0060412 [ventricular septum morphogenesis] GO:0060444 [branching involved in mammary gland duct morphogenesis] GO:0060596 [mammary placode formation] GO:0060923 [cardiac muscle cell fate commitment] GO:0060931 [sinoatrial node cell development] GO:0090398 [cellular senescence] GO:2000648 [positive regulation of stem cell proliferation]
Predicted intracellular proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Frameshift Mutations Protein evidence (Ezkurdia et al 2014)
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GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated]