DISEASES

Disease-gene associations mined from literature

Literature associating MESP2 and spondylocostal dysostosis

MESP2 [ENSP00000342392]

Mesoderm posterior basic helix-loop-helix transcription factor 2; 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; Basic helix-loop-helix proteins

Synonyms:  MESP2,  MESP2p,  hMESP2,  H0YKZ5,  Q0VG99 ...

Linkouts:  STRING  Pharos  UniProt  OMIM