BMP8A
bone morphogenetic protein 8a
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 may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1192579480 | 1:39,957,673 | C/A | — | uncertain significance |
| rs1645163146 | 1:39,957,725 | G/A | — | uncertain significance |
| rs560746736 | 1:39,957,748 | C/G | — | uncertain significance |
| rs1303883284 | 1:39,957,839 | G/A | — | uncertain significance |
| rs780713892 | 1:39,957,887 | T/G | — | uncertain significance |
| rs532376246 | 1:39,957,919 | G/A | — | likely benign |
| rs1464963690 | 1:39,957,924 | C/G | — | uncertain significance |
| rs559753532 | 1:39,957,944 | C/T | — | uncertain significance |
| rs4012665 | 1:39,957,990 | C/T | — | likely benign |
| rs60069508 | 1:39,964,912 | G/C | intron variant | — |
| rs61779331 | 1:39,970,928 | C/A | regulatory region variant | — |
| rs534523711 | 1:39,971,962 | A/G | — | — |
| rs761473459 | 1:39,976,924 | G/A | — | uncertain significance |
| rs759949424 | 1:39,976,942 | C/T | — | uncertain significance |
| rs2523624437 | 1:39,977,005 | T/C | — | uncertain significance |
| rs1397794031 | 1:39,977,504 | G/A | — | uncertain significance |
| rs770615938 | 1:39,977,532 | G/A | — | uncertain significance |
| rs1645360295 | 1:39,977,570 | G/A | — | uncertain significance |
| rs1180322 | 1:39,983,274 | C/A | — | — |
| rs777927309 | 1:39,987,056 | G/A | — | uncertain significance |
| rs774027603 | 1:39,987,074 | G/A | — | uncertain significance |
| rs755169291 | 1:39,987,116 | G/A | — | likely benign |
| rs749227620 | 1:39,987,162 | G/A | — | uncertain significance |
| rs2522758882 | 1:39,987,164 | G/A | — | uncertain significance |
| rs1282097457 | 1:39,987,192 | C/T | — | uncertain significance |
| rs6525 | 1:39,988,084 | G/A | — | benign |
| rs1557695007 | 1:39,988,102 | A/G | — | uncertain significance |
| rs780954766 | 1:39,988,110 | C/T | — | uncertain significance |
| rs370506690 | 1:39,988,111 | G/A | — | uncertain significance |
| rs201171133 | 1:39,988,113 | C/T | — | uncertain significance |
| rs768759717 | 1:39,988,119 | G/A | — | uncertain significance |
| rs143938877 | 1:39,988,126 | A/C | — | uncertain significance |
| rs762883509 | 1:39,988,128 | G/A | — | uncertain significance |
| rs765816990 | 1:39,988,132 | G/T | — | uncertain significance |
| rs757512908 | 1:39,988,146 | G/A | — | uncertain significance |
| rs752047389 | 1:39,988,740 | C/T | — | uncertain significance |
| rs1645445831 | 1:39,988,787 | C/G | — | uncertain significance |
| rs149527255 | 1:39,991,339 | A/G | — | likely benign |
| rs374194162 | 1:39,991,381 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.