BMP2
bone morphogenetic protein 2
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]
Known Variants153 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1555785711 | 20:6,750,774 | A/G | — | uncertain significance |
| rs961599421 | 20:6,750,789 | C/T | — | uncertain significance |
| rs1197846053 | 20:6,750,816 | C/T | — | pathogenic |
| rs2122375918 | 20:6,750,821 | C/G | — | likely benign |
| rs2514530204 | 20:6,750,837 | G/A | — | uncertain significance |
| rs1422558559 | 20:6,750,841 | G/C | — | uncertain significance |
| rs1351092872 | 20:6,750,845 | C/T | — | likely benign |
| rs1555785715 | 20:6,750,852 | G/T | — | likely pathogenic |
| rs761634402 | 20:6,750,860 | C/T | — | uncertain significance |
| rs2122376065 | 20:6,750,863 | C/A | — | likely benign |
| rs936595058 | 20:6,750,873 | G/C | — | uncertain significance |
| rs1418608910 | 20:6,750,880 | C/T | — | uncertain significance |
| rs2273073 | 20:6,750,882 | T/G | missense variant | benign |
| rs747516210 | 20:6,750,903 | C/G | — | uncertain significance |
| rs757825179 | 20:6,750,906 | C/A | — | uncertain significance |
| rs746277910 | 20:6,750,909 | T/A | — | uncertain significance |
| rs1343341933 | 20:6,750,915 | G/T | — | pathogenic |
| rs1207867223 | 20:6,750,917 | G/C | — | uncertain significance |
| rs775238777 | 20:6,750,923 | G/C | — | likely benign |
| rs1201164661 | 20:6,750,932 | C/G | — | uncertain significance |
| rs773801167 | 20:6,750,945 | C/T | — | uncertain significance |
| rs147880089 | 20:6,750,948 | A/G | — | uncertain significance |
| rs1008638475 | 20:6,750,950 | C/A | — | uncertain significance |
| rs773113395 | 20:6,750,951 | A/C | — | uncertain significance |
| rs557734542 | 20:6,750,952 | T/C | — | uncertain significance |
| rs762870450 | 20:6,750,967 | A/G | — | uncertain significance |
| rs2514530431 | 20:6,750,970 | G/A | — | uncertain significance |
| rs1568547677 | 20:6,750,973 | C/G | — | uncertain significance |
| rs377506952 | 20:6,750,992 | C/T | — | likely benign |
| rs1026933962 | 20:6,751,001 | C/G | — | likely benign |
| rs36105541 | 20:6,751,002 | C/T | — | uncertain significance |
| rs151071707 | 20:6,751,003 | C/G | — | uncertain significance |
| rs1986370535 | 20:6,751,008 | A/G | — | uncertain significance |
| rs1568547704 | 20:6,751,014 | G/A | — | uncertain significance |
| rs2514530508 | 20:6,751,020 | T/C | — | uncertain significance |
| rs1049007 | 20:6,751,034 | G/A | — | benign |
| rs1986371828 | 20:6,751,037 | T/A | — | likely benign |
| rs1464127693 | 20:6,751,038 | C/T | — | pathogenic |
| rs373345005 | 20:6,751,044 | G/T | — | uncertain significance |
| rs886043711 | 20:6,751,048 | C/A | — | pathogenic |
| rs539460039 | 20:6,751,052 | C/T | — | likely benign |
| rs779964077 | 20:6,751,053 | G/A | — | uncertain significance |
| rs1285712947 | 20:6,751,063 | A/G | — | uncertain significance |
| rs780452000 | 20:6,751,075 | G/A | — | uncertain significance |
| rs754625577 | 20:6,751,080 | G/A | — | uncertain significance |
| rs1464939104 | 20:6,751,087 | G/A | — | uncertain significance |
| rs2273074 | 20:6,751,089 | G/A | missense variant | uncertain significance |
| rs374592377 | 20:6,751,096 | C/T | — | uncertain significance |
| rs771718188 | 20:6,751,099 | T/C | — | uncertain significance |
| rs2122376974 | 20:6,751,102 | G/A | — | uncertain significance |
| rs746966399 | 20:6,751,110 | C/T | — | uncertain significance |
| rs2122377023 | 20:6,751,121 | T/C | — | pathogenic |
| rs2514530716 | 20:6,751,123 | A/G | — | uncertain significance |
| rs1986375633 | 20:6,751,124 | G/A | — | uncertain significance |
| rs7270163 | 20:6,751,316 | G/A | — | benign |
| rs1005464 | 20:6,756,148 | G/A | intron variant | — |
| rs201118225 | 20:6,758,915 | A/G | — | conflicting classifications of pathogenicity |
| rs150153389 | 20:6,758,916 | C/T | — | uncertain significance |
| rs138635436 | 20:6,758,919 | G/A | — | likely benign |
| rs1600173106 | 20:6,758,931 | C/T | — | uncertain significance |
| rs775995068 | 20:6,758,937 | G/T | — | uncertain significance |
| rs140417301 | 20:6,758,938 | A/T | — | likely benign |
| rs2514426246 | 20:6,758,940 | T/G | — | uncertain significance |
| rs1986540851 | 20:6,758,951 | T/A | — | uncertain significance |
| rs1986541540 | 20:6,758,965 | C/T | — | likely benign |
| rs763882274 | 20:6,758,967 | C/T | — | uncertain significance |
| rs756741663 | 20:6,758,976 | T/C | — | uncertain significance |
| rs781128305 | 20:6,758,980 | C/A | — | likely benign |
| rs1167821863 | 20:6,759,003 | T/A | — | uncertain significance |
| rs1057523275 | 20:6,759,005 | C/T | — | pathogenic |
| rs111675841 | 20:6,759,006 | G/A | — | uncertain significance |
| rs192108769 | 20:6,759,022 | T/C | — | likely benign |
| rs34183594 | 20:6,759,027 | T/C | — | uncertain significance |
| rs1986544985 | 20:6,759,041 | A/G | — | uncertain significance |
| rs1600173184 | 20:6,759,053 | C/T | — | pathogenic |
| rs776834114 | 20:6,759,054 | G/A | — | uncertain significance |
| rs1329513102 | 20:6,759,062 | A/G | — | uncertain significance |
| rs775969696 | 20:6,759,084 | C/T | — | uncertain significance |
| rs142811428 | 20:6,759,097 | G/A | — | likely benign |
| rs756013012 | 20:6,759,101 | T/C | — | uncertain significance |
| rs149465465 | 20:6,759,106 | C/T | — | conflicting classifications of pathogenicity |
| rs235768 | 20:6,759,115 | A/T | missense variant | benign |
| rs2514426566 | 20:6,759,158 | G/T | — | pathogenic |
| rs374359416 | 20:6,759,175 | C/T | — | likely benign |
| rs1410843089 | 20:6,759,177 | C/G | — | uncertain significance |
| rs761359724 | 20:6,759,178 | C/T | — | likely benign |
| rs141178075 | 20:6,759,189 | G/A | — | uncertain significance |
| rs147301573 | 20:6,759,199 | A/G | — | likely benign |
| rs1182413674 | 20:6,759,207 | A/G | — | uncertain significance |
| rs757394512 | 20:6,759,208 | C/T | — | likely benign |
| rs140884062 | 20:6,759,209 | G/A | — | uncertain significance |
| rs1197565431 | 20:6,759,217 | T/C | — | likely benign |
| rs749808793 | 20:6,759,226 | G/A | — | likely benign |
| rs769264233 | 20:6,759,227 | G/A | — | uncertain significance |
| rs2514426680 | 20:6,759,230 | G/T | — | pathogenic |
| rs1182971466 | 20:6,759,232 | A/G | — | likely benign |
| rs1395477404 | 20:6,759,246 | A/G | — | uncertain significance |
| rs1296012081 | 20:6,759,250 | G/C | — | uncertain significance |
| rs2514426738 | 20:6,759,266 | A/T | — | uncertain significance |
| rs2122390899 | 20:6,759,299 | C/T | — | pathogenic |
Showing 100 of 153 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.