Gene Symbol | BMP2 |
Entrez Gene ID | 650 |
Full Name | bone morphogenetic protein 2 |
Synonyms | BDA2,BMP2A |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | {HFE hemochromatosis, modifier of}, 235200 (3); Brachydactyly, type A2, 112600 (3) |