BMP10
bone morphogenetic protein 10
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 the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3792224 | 2:69,092,393 | T/C | downstream gene variant | — |
| rs2466792121 | 2:69,092,773 | C/G | — | uncertain significance |
| rs140776070 | 2:69,093,047 | C/T | — | uncertain significance |
| rs2466793213 | 2:69,093,152 | C/T | — | uncertain significance |
| rs2231345 | 2:69,093,288 | G/T | — | benign |
| rs1393953457 | 2:69,093,301 | T/C | — | likely benign |
| rs2466793988 | 2:69,093,371 | G/A | — | uncertain significance |
| rs766575868 | 2:69,093,386 | G/T | — | uncertain significance |
| rs34008398 | 2:69,093,413 | G/A | missense variant | Likely benign |
| rs2231342 | 2:69,093,439 | G/C | — | likely benign |
| rs760859777 | 2:69,093,472 | C/G | — | uncertain significance |
| rs759741960 | 2:69,093,488 | G/T | — | uncertain significance |
| rs772544660 | 2:69,093,551 | G/A | — | uncertain significance |
| rs759758273 | 2:69,093,574 | C/T | — | uncertain significance |
| rs2466794617 | 2:69,093,658 | G/A | — | uncertain significance |
| rs1156928265 | 2:69,093,668 | G/A | — | likely benign |
| rs144598604 | 2:69,094,168 | G/A | intron variant | — |
| rs200003966 | 2:69,098,202 | T/A | — | uncertain significance |
| rs377683224 | 2:69,098,204 | C/T | — | uncertain significance |
| rs757601401 | 2:69,098,210 | G/C | — | uncertain significance |
| rs2103812921 | 2:69,098,223 | T/C | — | uncertain significance |
| rs756550591 | 2:69,098,232 | C/T | — | uncertain significance |
| rs759552301 | 2:69,098,270 | T/C | — | uncertain significance |
| rs1558686747 | 2:69,098,289 | G/A | — | uncertain significance |
| rs745609188 | 2:69,098,405 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.