BMP2, Official Symbol BMP2provided by HGNC Official Full Name bone morphogenetic protein 2provided by HGNC Primary source HGNC:HGNC:1069 See related Ensembl:ENSG00000125845 MIM:112261; AllianceGenome:HGNC:1069 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BDA2; BMP2A; SSFSC; SSFSC1 Summary 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] Expression Broad expression in fat (RPKM 13.9), colon (RPKM 12.1) and 21 other tissues See more Orthologs mouse all