| UniProt Protein Function: | 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. |
| UniProt Protein Details: | Protein type:Transcription, coactivator/corepressor; DNA-binding Chromosomal Location of Human Ortholog: 5q35.2 Molecular Function:protein binding; sequence-specific DNA binding; transcription cofactor activity Biological Process: negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; osteoblast differentiation Disease: Craniosynostosis 2; Parietal Foramina; Parietal Foramina With Cleidocranial Dysplasia |
| NCBI Summary: | This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P35548 |
| NCBI GenInfo Identifier: | 311033429 |
| NCBI Gene ID: | 4488 |
| NCBI Accession: | P35548.3 |
| UniProt Secondary Accession: | P35548,Q53XM4, Q9UD60, D3DQN1, |
| UniProt Related Accession: | P35548 |
| Molecular Weight: | 28,897 Da |
| NCBI Full Name: | Homeobox protein MSX-2 |
| NCBI Synonym Full Names: | msh homeobox 2 |
| NCBI Official Symbol: | MSX2 |
| NCBI Official Synonym Symbols: | FPP; MSH; PFM; CRS2; HOX8; PFM1 |
| NCBI Protein Information: | homeobox protein MSX-2 |
| UniProt Protein Name: | Homeobox protein MSX-2 |
| UniProt Synonym Protein Names: | Homeobox protein Hox-8 |
| Protein Family: | Msx2-interacting protein |
| UniProt Gene Name: | MSX2 |
| UniProt Entry Name: | MSX2_HUMAN |
