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 Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies and Brachydactyly, Type A2. Among its related pathways are p70S6K Signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is BMP4.
UniProtKB/Swiss-Prot Summary 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).