MESP2 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. Defects in MESP2 are the cause of spondylocostal dysostosis type 2 (SCDO2). An autosomal recessive condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. Note: This description may include information from UniProtKB.
Protein type: Cell development/differentiation; Transcription factor
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component:  nucleus
Molecular Function:  protein dimerization activity
Biological Process:  embryonic pattern specification; heart morphogenesis; mesoderm formation; Notch signaling pathway; positive regulation of transcription from RNA polymerase II promoter; somitogenesis; transcription from RNA polymerase II promoter
Disease: Spondylocostal Dysostosis 1, Autosomal Recessive; Spondylocostal Dysostosis 2, Autosomal Recessive
Reference #:  Q0VG99 (UniProtKB)
Alt. Names/Synonyms: BHLHC6; Class C basic helix-loop-helix protein 6; mesoderm posterior 2 homolog (mouse); Mesoderm posterior protein 2; MESP2; SCDO2
Gene Symbols: MESP2
Molecular weight: 41,760 Da
Basal Isoelectric point: 7.05  Predict pI for various phosphorylation states
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Protein Structure Not Found.

Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene