Gene: MESP2

Alternate names for this Gene: SCDO2|bHLHc6

Gene 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).

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: mesoderm posterior bHLH transcription factor 2

Type of Gene: protein-coding

rs12900413 in MESP2 gene and Coronary Aneurysm PMID 27171184 2016 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.

rs12900413 in MESP2 gene and Mucocutaneous Lymph Node Syndrome PMID 27171184 2016 Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.