SMAD5
SMAD family member 5
Summary
The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3764941 | 5:135,469,527 | T/A | coding sequence variant | — |
| rs10085013 | 5:135,470,041 | T/A | coding sequence variant | — |
| rs6596284 | 5:135,470,544 | T/C | coding sequence variant | — |
| rs7356756 | 5:135,471,034 | T/C | upstream gene variant | — |
| rs139011735 | 5:135,475,918 | G/A | regulatory region variant | — |
| rs7711696 | 5:135,486,536 | G/T | intron variant | — |
| rs182152006 | 5:135,488,304 | G/A | intron variant | — |
| rs1342692844 | 5:135,489,499 | G/A | — | uncertain significance |
| rs13179769 | 5:135,493,860 | C/A | intron variant | — |
| rs13166063 | 5:135,494,074 | T/C | intron variant | — |
| rs1039692154 | 5:135,496,574 | A/G | — | uncertain significance |
| rs1753809214 | 5:135,496,730 | C/T | — | uncertain significance |
| rs773759080 | 5:135,498,982 | A/G | — | uncertain significance |
| rs1338171773 | 5:135,498,999 | C/G | — | uncertain significance |
| rs765313935 | 5:135,499,006 | G/T | — | uncertain significance |
| rs1270148077 | 5:135,499,057 | T/C | — | uncertain significance |
| rs1109158 | 5:135,499,211 | T/G | — | — |
| rs763058710 | 5:135,508,167 | A/G | — | uncertain significance |
| rs959588131 | 5:135,508,315 | T/C | — | uncertain significance |
| rs4585442 | 5:135,508,381 | A/G | intron variant | — |
| rs4146185 | 5:135,510,033 | T/A | regulatory region variant | — |
| rs768324385 | 5:135,510,257 | A/G | — | uncertain significance |
| rs12719481 | 5:135,514,055 | A/G | 3 prime UTR variant | — |
| rs6865297 | 5:135,515,708 | A/G | 3 prime UTR variant | — |
| rs3206634 | 5:135,516,203 | T/A | — | — |
| rs6871224 | 5:135,516,919 | A/C | — | — |
| rs1057898 | 5:135,517,150 | T/C | 3 prime UTR variant | — |
| rs7031 | 5:135,518,242 | G/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.