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MSX2 Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antogonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter. Defects in MSX2 are the cause of parietal foramina 1 (PFM1); also known as foramina parietalia permagna (FPP). PFM1 is an autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. Defects in MSX2 are the cause of parietal foramina with cleidocranial dysplasia (PFMCCD); also known as cleidocranial dysplasia with parietal foramina. PFMCCD combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles. Defects in MSX2 are the cause of craniosynostosis type 2 (CRS2); also known as craniosynostosis Boston-type (CSB). CRS2 is an autosomal dominant disorder characterized by the premature fusion of calvarial sutures. The craniosynostosis phenotype is either fronto-orbital recession, or frontal bossing, or turribrachycephaly, or cloverleaf skull. Associated features include severe headache, high incidence of visual problems (myopia or hyperopia), and short first metatarsals. Intelligence is normal. Belongs to the Msh homeobox family. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription, coactivator/corepressor
Chromosomal Location of Human Ortholog: 5q35.2
Cellular Component: cytosol; nuclear speck
Molecular Function: protein binding; sequence-specific DNA binding; transcription cofactor activity; transcription factor binding
Biological Process: anterior/posterior pattern specification; chondrocyte development; embryonic forelimb morphogenesis; embryonic hindlimb morphogenesis; inhibition of CREB transcription factor; negative regulation of apoptosis; negative regulation of cell proliferation; negative regulation of fat cell differentiation; negative regulation of keratinocyte differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; osteoblast development; osteoblast differentiation; positive regulation of BMP signaling pathway; positive regulation of catagen; positive regulation of osteoblast differentiation; stem cell differentiation; transcription, DNA-dependent; wound healing, spreading of epidermal cells
Disease: Craniosynostosis 2; Parietal Foramina; Parietal Foramina With Cleidocranial Dysplasia
Reference #:  P35548 (UniProtKB)
Alt. Names/Synonyms: CRS2; FPP; Homeobox protein Hox-8; Homeobox protein MSX-2; HOX8; MSH; msh homeo box 2; msh homeobox 2; msh homeobox homolog 2; MSX2; PFM; PFM1
Gene Symbols: MSX2
Molecular weight: 28,897 Da
Basal Isoelectric point: 9.68  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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