GDF7
growth differentiation factor 7
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 the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barrett's esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1361576839 | 2:20,867,021 | G/A | — | uncertain significance |
| rs1268855665 | 2:20,867,123 | G/A | — | uncertain significance |
| rs1303002219 | 2:20,867,192 | G/A | — | uncertain significance |
| rs1280018535 | 2:20,867,205 | G/A | — | uncertain significance |
| rs772335010 | 2:20,867,232 | G/T | — | uncertain significance |
| rs575138523 | 2:20,867,303 | A/G | — | likely benign |
| rs370953042 | 2:20,867,381 | G/A | — | uncertain significance |
| rs778154570 | 2:20,870,343 | C/T | — | uncertain significance |
| rs765060390 | 2:20,870,419 | A/C | — | uncertain significance |
| rs201836157 | 2:20,870,475 | G/A | — | uncertain significance |
| rs1662102314 | 2:20,870,481 | A/G | — | likely benign |
| rs759625476 | 2:20,870,512 | C/G | — | uncertain significance |
| rs754252117 | 2:20,870,551 | C/G | — | uncertain significance |
| rs866538637 | 2:20,870,575 | G/A | — | uncertain significance |
| rs760622723 | 2:20,870,611 | C/T | — | uncertain significance |
| rs1293269981 | 2:20,870,622 | G/C | — | uncertain significance |
| rs1356327477 | 2:20,870,628 | G/A | — | uncertain significance |
| rs1376191059 | 2:20,870,686 | G/C | — | uncertain significance |
| rs75182412 | 2:20,870,688 | G/A | — | benign |
| rs776762214 | 2:20,870,715 | C/G | — | uncertain significance |
| rs1410422338 | 2:20,870,724 | G/A | — | uncertain significance |
| rs767001189 | 2:20,870,748 | G/A | — | uncertain significance |
| rs139571693 | 2:20,870,749 | G/C | — | uncertain significance |
| rs369980607 | 2:20,870,778 | G/A | — | benign |
| rs773497984 | 2:20,870,788 | G/T | — | uncertain significance |
| rs774772874 | 2:20,870,805 | G/T | — | uncertain significance |
| rs146317060 | 2:20,870,922 | G/C | — | uncertain significance |
| rs144349838 | 2:20,870,942 | G/T | — | benign |
| rs1386399046 | 2:20,870,995 | C/G | — | uncertain significance |
| rs2465593111 | 2:20,871,039 | A/T | — | uncertain significance |
| rs762496472 | 2:20,871,123 | G/A | — | uncertain significance |
| rs3072 | 2:20,878,406 | T/C | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.