APLNR
apelin receptor
Summary
This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs781662934 | 11:57,003,507 | G/A | — | likely benign |
| rs778198836 | 11:57,003,557 | G/C | — | uncertain significance |
| rs7943508 | 11:57,003,581 | C/T | — | benign |
| rs200012705 | 11:57,003,595 | G/T | — | uncertain significance |
| rs1444551373 | 11:57,003,668 | A/C | — | uncertain significance |
| rs150819843 | 11:57,003,749 | G/A | — | uncertain significance |
| rs150001803 | 11:57,003,758 | G/A | — | uncertain significance |
| rs200672348 | 11:57,003,782 | G/A | — | uncertain significance |
| rs778464649 | 11:57,003,810 | G/T | — | uncertain significance |
| rs748576901 | 11:57,003,848 | C/A | — | uncertain significance |
| rs376646370 | 11:57,003,857 | C/A | — | uncertain significance |
| rs202019294 | 11:57,003,868 | G/A | — | uncertain significance |
| rs147862659 | 11:57,003,939 | C/A | — | uncertain significance |
| rs775613142 | 11:57,003,949 | G/A | — | uncertain significance |
| rs369317042 | 11:57,003,968 | C/T | — | uncertain significance |
| rs373482292 | 11:57,004,027 | G/T | — | uncertain significance |
| rs576092494 | 11:57,004,037 | C/T | — | uncertain significance |
| rs200833984 | 11:57,004,051 | C/T | — | uncertain significance |
| rs2494955275 | 11:57,004,121 | G/T | — | uncertain significance |
| rs750760773 | 11:57,004,130 | C/T | — | uncertain significance |
| rs780449482 | 11:57,004,136 | C/T | — | uncertain significance |
| rs2494955372 | 11:57,004,147 | A/G | — | uncertain significance |
| rs748168275 | 11:57,004,148 | C/T | — | uncertain significance |
| rs200935550 | 11:57,004,208 | G/A | — | uncertain significance |
| rs538356535 | 11:57,004,237 | G/A | — | uncertain significance |
| rs144634263 | 11:57,004,244 | C/T | — | uncertain significance |
| rs145108815 | 11:57,004,322 | C/T | — | likely benign |
| rs201644557 | 11:57,004,398 | C/T | — | likely benign |
| rs9943582 | 11:57,005,067 | T/G | — | — |
| rs10501367 | 11:57,005,587 | T/G | — | — |
| rs7119375 | 11:57,005,964 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.