SIM2
Description
The SIM2 (SIM bHLH transcription factor 2) is a protein-coding gene located on chromosome 21.
SIM2, a protein encoded by the SIM2 gene in humans, plays a crucial role in the development of the midline of the central nervous system, as well as in the formation of the face and head. It is homologous to the Drosophila sim gene, which encodes a transcription factor that regulates neurogenesis of midline cells in the central nervous system. SIM2 is located on chromosome 21, specifically on the q arm, band 22.2, within the region associated with Down syndrome. Its function as a potential transcriptional repressor and its similarity to Drosophila sim suggest a possible contribution to specific Down syndrome phenotypes. SIM2 interacts with Aryl hydrocarbon receptor nuclear translocator (Arnt). When introduced into PC12 cells, SIM2 influences the normal cell maturation cycle. It inhibits the expression of cyclin E, preventing cells from progressing through the G1/S checkpoint and suppressing cell proliferation. Additionally, SIM2 increases the levels of p27, a growth inhibitor protein, which further inhibits the activation of cell cycle regulatory kinases.
SIM2 is a transcription factor believed to play a key role in central nervous system (CNS) development, potentially acting as a master regulator in conjunction with Arnt. This gene may have a wide range of effects (pleiotropic) on the tissues where it is expressed during development.
SIM2 is also known as HMC13F06, HMC29C01, SIM, bHLHe15.
Associated Diseases
- isolated congenital hypoglossia/aglossia
- isolated Pierre-Robin syndrome
- cleft lip/palate
- amelogenesis imperfecta
- cancer
- auriculocondylar syndrome
