GDF15
growth differentiation factor 15
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. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201445214 | 19:18,497,005 | C/T | — | benign |
| rs373073926 | 19:18,497,010 | A/G | — | uncertain significance |
| rs376302581 | 19:18,497,048 | G/A | — | likely benign |
| rs767447445 | 19:18,497,061 | T/C | — | uncertain significance |
| rs1320197814 | 19:18,497,066 | T/C | — | uncertain significance |
| rs1059369 | 19:18,497,141 | T/C | missense variant | — |
| rs1034279886 | 19:18,497,180 | G/A | — | uncertain significance |
| rs201533332 | 19:18,497,184 | A/C | — | uncertain significance |
| rs751857872 | 19:18,497,246 | G/A | — | uncertain significance |
| rs1201798835 | 19:18,497,259 | G/A | — | uncertain significance |
| rs1227732 | 19:18,498,808 | T/A | — | — |
| rs773905547 | 19:18,499,098 | C/T | — | uncertain significance |
| rs1441952732 | 19:18,499,122 | C/A | — | uncertain significance |
| rs773889399 | 19:18,499,150 | C/T | — | uncertain significance |
| rs1971855324 | 19:18,499,162 | C/A | — | uncertain significance |
| rs143520034 | 19:18,499,167 | G/A | — | benign |
| rs147994992 | 19:18,499,168 | C/A | — | conflicting classifications of pathogenicity |
| rs999689035 | 19:18,499,185 | G/C | — | uncertain significance |
| rs765285195 | 19:18,499,193 | C/G | — | likely benign |
| rs1483942184 | 19:18,499,275 | C/T | — | uncertain significance |
| rs3746195 | 19:18,499,290 | C/A | — | benign |
| rs771598240 | 19:18,499,347 | C/T | — | uncertain significance |
| rs2512888957 | 19:18,499,348 | G/C | — | uncertain significance |
| rs769997784 | 19:18,499,378 | A/T | — | uncertain significance |
| rs764317780 | 19:18,499,384 | C/T | — | uncertain significance |
| rs1058587 | 19:18,499,422 | C/G | missense variant | — |
| rs1175869015 | 19:18,499,423 | A/G | — | uncertain significance |
| rs372120002 | 19:18,499,449 | T/G | — | risk factor |
| rs766507873 | 19:18,499,525 | A/G | — | uncertain significance |
| rs2512889406 | 19:18,499,537 | G/A | — | uncertain significance |
| rs761625643 | 19:18,499,564 | G/C | — | uncertain significance |
| rs779865510 | 19:18,499,581 | G/A | — | uncertain significance |
| rs748711062 | 19:18,499,617 | G/A | — | uncertain significance |
| rs759715270 | 19:18,499,641 | G/C | — | uncertain significance |
| rs753582192 | 19:18,499,687 | C/G | — | uncertain significance |
| rs1054564 | 19:18,499,815 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.