ACVR2A
activin A receptor type 2A
Summary
This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1424954 | 2:148,600,794 | G/A | upstream gene variant | — |
| rs79861172 | 2:148,607,438 | G/A | intron variant | — |
| rs1014064 | 2:148,612,154 | A/C | — | — |
| rs17741978 | 2:148,617,380 | C/G | intron variant | — |
| rs13021972 | 2:148,631,232 | A/T | upstream gene variant | — |
| rs7559925 | 2:148,640,930 | T/C | intron variant | — |
| rs1424941 | 2:148,643,118 | C/A | — | — |
| rs2161983 | 2:148,649,386 | G/A | intron variant | — |
| rs776542712 | 2:148,653,960 | C/T | — | uncertain significance |
| rs2467775542 | 2:148,657,044 | A/G | — | uncertain significance |
| rs2467776322 | 2:148,657,331 | C/G | — | uncertain significance |
| rs146383418 | 2:148,657,423 | A/G | — | uncertain significance |
| rs3768687 | 2:148,672,020 | C/T | intron variant | — |
| rs1489499469 | 2:148,672,898 | A/G | — | uncertain significance |
| rs562464467 | 2:148,674,960 | G/A | — | uncertain significance |
| rs2467808695 | 2:148,676,094 | G/C | — | uncertain significance |
| rs1558814473 | 2:148,677,831 | A/C | — | uncertain significance |
| rs1687421011 | 2:148,680,552 | G/A | — | uncertain significance |
| rs202050064 | 2:148,684,782 | T/C | — | uncertain significance |
| rs765408586 | 2:148,684,784 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.