AGTR2
angiotensin II receptor type 2
Summary
The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-regulation of angiotensin converting enzyme-2 (ACE2) receptors, the effects of which, triggers serious inflammatory lesions in the tissues involved, primarily in the lungs. The inflammatory reaction appears to be mediated by angiotensin II derivatives, including the angiotensin AT2 receptor which has been found to be upregulated in bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1403543 | X:115,302,192 | G/A | intron variant | — |
| rs373687647 | X:115,303,594 | G/A | — | uncertain significance |
| rs121917810 | X:115,303,595 | G/T | missense variant | likely benign |
| rs2520571922 | X:115,303,609 | T/C | — | uncertain significance |
| rs143423522 | X:115,303,619 | A/G | — | uncertain significance |
| rs1602586215 | X:115,303,623 | G/C | — | uncertain significance |
| rs782263502 | X:115,303,642 | C/G | — | uncertain significance |
| rs398123484 | X:115,303,654 | G/A | — | uncertain significance |
| rs2520572471 | X:115,303,678 | A/G | — | likely benign |
| rs121917813 | X:115,303,690 | A/T | missense variant | uncertain significance |
| rs782191249 | X:115,303,703 | T/C | — | uncertain significance |
| rs140949483 | X:115,303,744 | T/A | — | conflicting classifications of pathogenicity |
| rs138706948 | X:115,303,764 | G/T | — | uncertain significance |
| rs782664096 | X:115,303,769 | C/G | — | uncertain significance |
| rs184954669 | X:115,303,831 | T/C | — | uncertain significance |
| rs1922492079 | X:115,303,847 | C/G | — | uncertain significance |
| rs150381803 | X:115,303,911 | G/A | — | benign |
| rs2520574471 | X:115,303,944 | C/A | — | uncertain significance |
| rs782735438 | X:115,303,973 | T/A | — | uncertain significance |
| rs1556673748 | X:115,303,976 | A/G | — | uncertain significance |
| rs5190 | X:115,304,031 | T/C | — | benign |
| rs2520575070 | X:115,304,039 | G/T | — | uncertain significance |
| rs1922503527 | X:115,304,065 | A/G | — | uncertain significance |
| rs782035382 | X:115,304,083 | G/A | — | uncertain significance |
| rs1057522135 | X:115,304,092 | A/G | — | uncertain significance |
| rs1922507327 | X:115,304,134 | C/T | — | uncertain significance |
| rs781906897 | X:115,304,198 | T/C | — | uncertain significance |
| rs3729977 | X:115,304,224 | T/C | — | benign |
| rs782268575 | X:115,304,244 | C/G | — | uncertain significance |
| rs147257964 | X:115,304,255 | C/T | — | uncertain significance |
| rs5191 | X:115,304,276 | G/A | — | benign |
| rs3729979 | X:115,304,345 | C/T | — | uncertain significance |
| rs1556673813 | X:115,304,350 | C/A | — | uncertain significance |
| rs1163188247 | X:115,304,404 | G/A | — | uncertain significance |
| rs2520577867 | X:115,304,411 | T/C | — | uncertain significance |
| rs782129199 | X:115,304,435 | C/T | — | uncertain significance |
| rs936767941 | X:115,304,459 | C/A | — | uncertain significance |
| rs372930194 | X:115,304,463 | C/A | — | uncertain significance |
| rs35474657 | X:115,304,504 | G/A | missense variant | uncertain significance |
| rs121917811 | X:115,304,542 | A/G | missense variant | uncertain significance |
| rs17237799 | X:115,304,544 | T/A | — | benign |
| rs782240762 | X:115,304,545 | A/G | — | likely benign |
| rs5193 | X:115,304,824 | G/T | 3 prime UTR variant | — |
| rs5194 | X:115,304,830 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.