Bone morphogenetic protein 2

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The BMP2 gene at 20p12.3 codes for the 396 amino acid pro-peptide of bone morphogenetic protein 2. This induces cartilage and bone formation and is a component of the signalling pathway that stimulates the differentiation of myoblasts into osteoblasts. It is a driver of epicardial cell migration in the formation of coronary blood vessels[1]. Dysfunctional mutations are lethal to embryo development. BMP-2 activation of eukaryotic translation initiation factor 2-alpha kinase 3 stimulates phosphorylation of eukaryotic translation initiation factor 2 subunit 1 which leads to increased expression of cyclic AMP-dependent transcription factor ATF-4 which plays a central role in osteoblast differentiation. BMP-2 also stimulates transmembrane protein 119 which also upregulates the expression of cyclic AMP-dependent transcription factor ATF-4. Like most other members of the transforming growth factor-beta superfamily of regulatory proteins it has other potential effects as a growth stimulator and its usual receptor proteins are known to lack specificity, being activated by other bone morphogenetic proteins.

Mutations of BMP2 are a cause of brachydactyly, type A2 (BFDA2, OMIM:112600). The common rs235756 variant (C282Y) enhances the phenotype expression in haemochromatosis.

Recombinant human bone morphogenetic protein-2 has been developed for use in tissue engineering requiring new bone formation as with non union of fractures[2]. A shorter chain form rhBMP2-108 is also in development[3].