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mesoderm posterior protein 2 (MESP2 SCDO2)
Function:
- transcription factor
- role in somitogenesis
- defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways
- regulates FGF signaling pathway
- specifies 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 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 & in the development of cardiac mesoderm
- degraded by the proteasome (putative)
- phosphorylated (putative)
Structure: contains 1 basic helix-loop-helix (bHLH) domain
Compartment: nucleus (putative)
Polymorphism:
- the number of GQ repeats at position 179 is polymorphic
Pathology:
- defects in MESP2 are the cause of autosomal recessive spondylocostal dysostosis type 2
General
basic helix loop helix (bHLH) family transcription factor
Properties
SIZE: entity length = 393 aa
MW = 41 kD
COMPARTMENT: cell nucleus
MOTIF: DNA-binding motif
SITE: 72-89
helix-loop-helix
NAME: helix-loop-helix
SITE: 90-136
FOR-BINDING-VIA: helix-loop-helix
domain {179-200}
MOTIF: consensus repeat {179-180}
consensus repeat {181-182}
consensus repeat {183-184}
consensus repeat {185-186}
consensus repeat {187-188}
consensus repeat {189-190}
consensus repeat {191-192}
consensus repeat {193-194}
consensus repeat {195-196}
consensus repeat {197-198}
consensus repeat {199-299}
basic helix-loop-helix
MOTIF: basic DNA-binding motif
helix-loop-helix
NAME: helix-loop-helix
FOR-BINDING-VIA: helix-loop-helix
FOR-BINDING-OF: DNA motif
FOR-BINDING-VIA: helix-loop-helix
Database Correlations
OMIM correlations
MORBIDMAP 605195
UniProt Q0VG99
Pfam PF00010
References
- UniProt :accession Q0VG99
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MESP2