RGS7BP
regulator of G protein signaling 7 binding protein
Summary
This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2479302188 | 5:63,802,490 | C/G | — | uncertain significance |
| rs144739204 | 5:63,802,500 | C/A | — | uncertain significance |
| rs757987420 | 5:63,802,538 | G/C | — | uncertain significance |
| rs776685105 | 5:63,802,555 | G/T | — | uncertain significance |
| rs1378014144 | 5:63,802,596 | G/A | — | uncertain significance |
| rs1748734739 | 5:63,803,575 | G/A | — | uncertain significance |
| rs10068695 | 5:63,815,327 | C/A | intron variant | — |
| rs578227000 | 5:63,834,632 | C/T | — | — |
| rs7701529 | 5:63,861,475 | A/T | intron variant | — |
| rs768520530 | 5:63,890,545 | C/A | — | uncertain significance |
| rs570310261 | 5:63,890,586 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.