InnateDB Protein
|
IDBP-29611.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
MESP2
|
Protein Name
|
mesoderm posterior 2 homolog (mouse)
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000342392
|
InnateDB Gene
|
IDBG-29609 (MESP2)
|
Protein Structure
|
|
Function |
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.
|
Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00981}.
|
Disease Associations |
Spondylocostal dysostosis 2, autosomal recessive (SCDO2) [MIM:608681]: A 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. {ECO:0000269PubMed:15122512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
|
Molecular Function |
Accession |
GO Term |
GO:0003677
|
DNA binding
|
GO:0003700
|
sequence-specific DNA binding transcription factor activity
|
GO:0046983
|
protein dimerization activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
|
PFAM |
PF00010
|
PRINTS |
|
PIRSF |
|
SMART |
SM00353
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q0VG99
|
PhosphoSite |
PhosphoSite-Q0VG99
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
145873
|
UniGene |
Hs.37311
|
RefSeq |
NP_001035047
|
HUGO |
HGNC:29659
|
OMIM |
605195
|
CCDS |
CCDS42078
|
HPRD |
|
IMGT |
|
EMBL |
AC079075
BC111413
BK000142
|
GenPept |
AAI11414
DAA00304
|
|
|