BMP3
bone morphogenetic protein 3
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. [provided by RefSeq, Jul 2016]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs13138132 | 4:81,950,520 | A/T | — | — |
| rs1312337659 | 4:81,952,512 | C/G | — | uncertain significance |
| rs747802495 | 4:81,952,544 | G/T | — | uncertain significance |
| rs2546007049 | 4:81,952,545 | T/C | — | uncertain significance |
| rs555369050 | 4:81,952,551 | G/T | — | uncertain significance |
| rs1302077632 | 4:81,952,557 | G/A | — | uncertain significance |
| rs1560508986 | 4:81,952,636 | G/C | — | uncertain significance |
| rs919860199 | 4:81,952,698 | G/T | — | uncertain significance |
| rs1478763551 | 4:81,952,703 | C/T | — | uncertain significance |
| rs5022942 | 4:81,959,966 | A/G | intron variant | — |
| rs149565928 | 4:81,967,032 | T/C | — | uncertain significance |
| rs773959994 | 4:81,967,042 | C/T | — | uncertain significance |
| rs144203978 | 4:81,967,081 | C/G | — | uncertain significance |
| rs34213771 | 4:81,967,101 | C/A | — | likely benign |
| rs3733549 | 4:81,967,150 | G/A | missense variant | — |
| rs756251230 | 4:81,967,201 | C/T | — | uncertain significance |
| rs114620549 | 4:81,967,239 | A/G | — | uncertain significance |
| rs34505126 | 4:81,967,240 | C/T | — | benign |
| rs750935828 | 4:81,967,270 | G/A | — | uncertain significance |
| rs140292630 | 4:81,967,317 | G/A | — | uncertain significance |
| rs2546015371 | 4:81,967,356 | G/A | — | uncertain significance |
| rs200302858 | 4:81,967,362 | C/T | — | uncertain significance |
| rs368791166 | 4:81,967,429 | G/A | — | uncertain significance |
| rs950312043 | 4:81,967,450 | G/C | — | uncertain significance |
| rs2546015570 | 4:81,967,530 | A/G | — | uncertain significance |
| rs578226153 | 4:81,967,555 | A/G | — | uncertain significance |
| rs61729826 | 4:81,967,610 | G/C | — | benign |
| rs145297209 | 4:81,967,618 | C/T | — | benign |
| rs1740251904 | 4:81,967,663 | A/T | — | uncertain significance |
| rs2546015805 | 4:81,967,720 | T/C | — | uncertain significance |
| rs765574543 | 4:81,974,646 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.