HAND2
Description
The HAND2 (heart and neural crest derivatives expressed 2) is a protein-coding gene located on chromosome 4.
The HAND2 gene encodes a protein that belongs to the basic helix-loop-helix family of transcription factors. This protein, along with its close relative HAND1, is asymmetrically expressed in the developing ventricular chambers and plays a crucial role in cardiac morphogenesis. They work in a complementary manner to form the right ventricle and aortic arch arteries, suggesting their involvement in congenital heart disease. This transcription factor also plays a significant role in limb and branchial arch development. A study found that a missense mutation in the Hand2 protein in patients with Tetralogy of Fallot, a congenital heart disease, led to significantly decreased Hand2 interactions with key developmental genes like GATA4 and NKX2.5. Hand2 mutations have the potential to be studied for their link to right ventricle stenosis and its pathogenesis. In avian species, Hand2 is expressed in developing gut tissue and is believed to contribute to the formation of enteric neurons. Hand2 also plays a critical role in establishing a proper implantation environment for pregnancy in mice and humans. Progesterone-dependent mechanisms induce Hand2 in uterine stromal tissue, suppressing fibroblast growth factors (FGFs) that would otherwise stimulate estrogen-producing pathways and impair embryo implantation.
HAND2 is also known as DHAND2, Hed, Thing2, bHLHa26, dHand.
