GDF11
growth differentiation factor 11
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 plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]
Known Variants19 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1218117430 | 12:56,137,162 | G/C | — | uncertain significance |
| rs2540202807 | 12:56,137,254 | G/T | — | uncertain significance |
| rs2540202954 | 12:56,137,395 | G/A | — | uncertain significance |
| rs201671298 | 12:56,137,479 | G/A | — | uncertain significance |
| rs1182700084 | 12:56,137,542 | G/C | — | uncertain significance |
| rs188443236 | 12:56,141,352 | A/T | downstream gene variant | — |
| rs201069456 | 12:56,142,549 | G/A | — | uncertain significance |
| rs35639297 | 12:56,142,553 | G/T | — | likely benign |
| rs2540205172 | 12:56,142,561 | G/A | — | uncertain significance |
| rs773048452 | 12:56,142,616 | G/A | — | uncertain significance |
| rs1471862638 | 12:56,142,646 | A/C | — | uncertain significance |
| rs2540205286 | 12:56,142,648 | C/G | — | uncertain significance |
| rs2540205366 | 12:56,142,735 | G/A | — | uncertain significance |
| rs377322165 | 12:56,142,759 | G/A | — | uncertain significance |
| rs1878258280 | 12:56,143,335 | G/A | — | pathogenic |
| rs1444997099 | 12:56,143,358 | G/A | — | uncertain significance |
| rs1878260839 | 12:56,143,409 | G/C | — | uncertain significance |
| rs1335516178 | 12:56,143,446 | G/A | — | uncertain significance |
| rs1449282134 | 12:56,143,450 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.