Aliases for MSX2 Gene
External Ids for MSX2 Gene
Previous HGNC Symbols for MSX2 Gene
Previous GeneCards Identifiers for MSX2 Gene
This gene 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for MSX2 Gene
MSX2 (Msh Homeobox 2) is a Protein Coding gene. Diseases associated with MSX2 include Craniosynostosis 2 and Parietal Foramina With Cleidocranial Dysplasia. Among its related pathways are Neural Crest Differentiation and Mesenchymal Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MSX1.
UniProtKB/Swiss-Prot Summary for MSX2 Gene
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter.