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In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Protein evidence (Ezkurdia et al 2014)
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GO:0001501 [skeletal system development] GO:0001570 [vasculogenesis] GO:0001886 [endothelial cell morphogenesis] GO:0001894 [tissue homeostasis] GO:0003281 [ventricular septum development] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0009653 [anatomical structure morphogenesis] GO:0009887 [organ morphogenesis] GO:0030510 [regulation of BMP signaling pathway] GO:0030539 [male genitalia development] GO:0035115 [embryonic forelimb morphogenesis] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045111 [intermediate filament cytoskeleton] GO:0045840 [positive regulation of mitotic nuclear division] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048619 [embryonic hindgut morphogenesis] GO:0048839 [inner ear development] GO:0048844 [artery morphogenesis] GO:0060442 [branching involved in prostate gland morphogenesis] GO:0060847 [endothelial cell fate specification] GO:2001055 [positive regulation of mesenchymal cell apoptotic process]