Short stature homeobox protein 2 (SHOX2)

Short stature homeobox protein 2 (SHOX2) is a member of the homeobox family of transcription factors characterized by a conserved 60-amino acid DNA-binding domain[2][3]. SHOX2 regulates gene expression during embryonic development and is essential for correct pattern formation and organogenesis in vertebrates, notably specifying neural structures, skeletal formation, and cardiac development, particularly of the sinoatrial node, the heart’s primary pacemaker[2][3][4]. Genetic disruption of SHOX2 impairs the development of bones (linked to short stature and related growth disorders) and the proper morphogenesis and function of the cardiac conduction system[4]. SHOX2 also regulates adipocyte biology by controlling adipocyte lipolysis, thereby influencing metabolic traits such as obesity and diabetes risk[6]. There are no approved drugs directly targeting SHOX2, but its expression and mutations are clinically relevant in genetic diagnostics for congenital growth defects and congenital heart conditions[2][3][4][6].

Other names

Homeobox protein Og12XOG12XSHOTSHOX homologous gene on chromosome 3paired-related homeobox protein SHOThomeobox protein Og12Xshort stature homeobox 2SHOX2