This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
Forensic Context
A study in human primary lung microvascular endothelial cells demonstrated that acute X-ray irradiation (10 Gy) induced a significant 11.7-fold upregulation of BMP2 mRNA at 24 hours post-exposure, as identified by RNA-seq analysis, with this gene being part of the upregulated endothelial-to-mesenchymal transition (EndMT) signaling pathway [Bouten et al. DOI:10.1038/s41598-021-03636-7]. A study in a porcine multiple trauma model with traumatic hemorrhage demonstrated that bone marrow-localized concentrations of the BMP2 were significantly lower in the fracture zone of injured animals compared to sham controls [Bläsius et al. DOI:10.1186/s40001-023-00996-w].