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MESP2 (human)

Overview 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 Cellular Component: nucleus Molecular Function: protein dimerization activity; DNA binding; transcription factor activity Biological Process: Notch signaling pathway; somitogenesis; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; mesodermal cell migration 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

Select Structure to View Below MESP2

STRING  |  Scansite  |  Phospho.ELM  |  Pfam  |  DISEASE 605195 608681  |  Source  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene

	Modification Sites and Domains

	Modification Sites in Parent Protein, Orthologs, and Isoforms

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		T69	RAAEAAATTPRRART
0	2		Y131-p	TLRLAIRyIGHLSAV

	mouse
T67-p	STRTTQAtAPRRTRP
Y129	TLRLAIRYIGHLSAL

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