MSX2 encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. MSX2 (Msh Homeobox 2) is a Protein Coding gene. Diseases associated with MSX2 include Craniosynostosis, Type 2 and Parietal Foramina 1. Among its related pathways are HTLV-I infection and Neural Crest Differentiation. GO annotations related to this gene include sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is MSX1.