Entrez Summary: 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].
UniProt Summary: 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.
Pfam DomainsGO Terms
Pfam Domains
HLH
GO Terms
somitogenesis
mesoderm formation
mesoderm morphogenesis
somite development
segmentation
formation of primary germ layer
mesoderm development
Notch signaling pathway
protein dimerization activity
gastrulation
anterior/posterior pattern specification
heart morphogenesis
regionalization
pattern specification process
RNA polymerase II proximal promoter sequence-specific DNA binding
heart development
tissue morphogenesis
embryonic morphogenesis
chordate embryonic development
embryo development ending in birth or egg hatching
circulatory system development
anatomical structure formation involved in morphogenesis