Aliases for BMP2 Gene
External Ids for BMP2 Gene
Previous HGNC Symbols for BMP2 Gene
Previous GeneCards Identifiers for BMP2 Gene
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]
GeneCards Summary for BMP2 Gene
BMP2 (Bone Morphogenetic Protein 2) is a Protein Coding gene. Diseases associated with BMP2 include Brachydactyly, Type A2 and Hemochromatosis. Among its related pathways are DREAM Repression and Dynorphin Expression and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is BMP4.
UniProtKB/Swiss-Prot for BMP2 Gene
Induces cartilage and bone formation (PubMed:3201241). Stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A- ATF4 pathway. BMP2 activation of EIF2AK3 stimulates phosphorylation of EIF2A which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation. In addition stimulates TMEM119, which upregulates the expression of ATF4 (PubMed:24362451).