Gene: BMP3

Alternate names for this Gene: BMP-3A

Gene 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. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands.

Gene is located in Chromosome: 4

Location in Chromosome : 4q21.21

Description of this Gene: bone morphogenetic protein 3

Type of Gene: protein-coding

rs74764079 in BMP3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs5022942 in BMP3 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.