Aliases for MESP2 Gene
External Ids for MESP2 Gene
Previous GeneCards Identifiers for MESP2 Gene
This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]
GeneCards Summary for MESP2 Gene
MESP2 (Mesoderm Posterior BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with MESP2 include Spondylocostal Dysostosis 2, Autosomal Recessive and Spondylocostal Dysostosis, Autosomal Recessive. Among its related pathways are Cardiac Progenitor Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is MESP1.
UniProtKB/Swiss-Prot for MESP2 Gene
Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Regulates also the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm.