HAND2
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Heart- and neural crest derivatives-expressed protein 2 is a protein that in humans is encoded by the HAND2 gene.
Heart- and neural crest derivatives-expressed protein 2 is a protein that in humans is encoded by the HAND2 gene. ==Regulation of Hand2== HAND2 is an important transcription factor in development of the endothelial to mesenchymal transition (EMT) which allows for the development of the cardiac cushion in the atrioventricular canal which forms the mitral and tricuspid valves. The Hand2 gene regulatory network contains many genes that function in the EMT process, most notably Snail1, whose expression is lost if Hand2 is deficient. Since HAND2 is essential for separation of the atria and ventricles, a mutation in this gene has been linked to ventricular septal defects. Deficiency in HAND2 is only partially replaced by SNAIL1. The expression of Hand2 is regulated by an upstream long non-coding RNA called Upperhand (Uph, the murine equivalent of the human HAND2-AS1 gene) that is needed for RNA polymerase II to transcribe Hand2. If Uph is not present, then there is a decrease in the expression of Hand2 and thus a decrease in cardiac development. When Uph was knocked out, the right ventricular chamber did not develop and had a similar phenotype as when Hand2 is knocked out. In addition, Hand2 expression was absent in the atria, ventricles, and outflow tract of the heart and was reduced in the brachial arches and limb buds.
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