MSX2

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]

Msh Homeobox 2

Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes 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.

Activation of meiosis Source: Ensembl
Anterior/posterior pattern specification Source: Ensembl
BMP signaling pathway involved in heart development Source: Ensembl
Bone trabecula formation Source: Ensembl
Branching involved in mammary gland duct morphogenesis Source: Ensembl
Cardiac conduction system development Source: BHF-UCL
Cellular response to estradiol stimulus Source: Ensembl
Chondrocyte development Source: Ensembl
Cranial suture morphogenesis Source: BHF-UCL
Embryonic forelimb morphogenesis Source: Ensembl
Embryonic hindlimb morphogenesis Source: Ensembl
Embryonic morphogenesis Source: GO_Central
Embryonic nail plate morphogenesis Source: Ensembl
Enamel mineralization Source: Ensembl
Endochondral bone growth Source: Ensembl
Epithelial to mesenchymal transition involved in endocardial cushion formation Source: Ensembl
Frontal suture morphogenesis Source: Ensembl
Negative regulation of apoptotic process Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Negative regulation of CREB transcription factor activity Source: Ensembl
Negative regulation of fat cell differentiation Source: Ensembl
Negative regulation of keratinocyte differentiation Source: Ensembl
Negative regulation of transcription, DNA-templated Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: UniProtKB
Negative regulation of transcription regulatory region DNA binding Source: BHF-UCL
Osteoblast development Source: Ensembl
Osteoblast differentiation Source: UniProtKB
Outflow tract septum morphogenesis Source: Ensembl
Positive regulation of BMP signaling pathway Source: Ensembl
Positive regulation of mesenchymal cell apoptotic process Source: Ensembl
Positive regulation of osteoblast differentiation Source: Ensembl
Positive regulation of timing of catagen Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Signal transduction involved in regulation of gene expression Source: Ensembl
Stem cell differentiation Source: Ensembl
Wound healing, spreading of epidermal cells Source: Ensembl

Nucleus

Parietal foramina 1 (PFM1):
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.
Parietal foramina with cleidocranial dysplasia (PFMCCD):
Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.
Craniosynostosis 2 (CRS2):
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. CRS2 is characterized by 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.