ACE2
angiotensin converting enzyme 2
Summary
The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I into angiotensin 1-9, and angiotensin II into the vasodilator angiotensin 1-7. ACE2 is known to be expressed in various human organs, and its organ- and cell-specific expression suggests that it may play a role in the regulation of cardiovascular and renal function, as well as fertility. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronavirus HCoV-NL63 and the human severe acute respiratory syndrome coronaviruses, SARS-CoV and SARS-CoV-2, the latter is the causative agent of coronavirus disease-2019 (COVID-19). Multiple splice variants have been found for this gene and the dACE2 (or MIRb-ACE2) splice variant has been found to be interferon inducible. [provided by RefSeq, Nov 2020]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2074192 | X:15,582,790 | C/T | intron variant | — |
| rs233575 | X:15,582,966 | G/A | intron variant | — |
| rs714205 | X:15,583,904 | C/A | — | — |
| rs4646179 | X:15,584,420 | A/G | — | benign |
| rs2519671882 | X:15,585,909 | G/A | — | uncertain significance |
| rs4240157 | X:15,586,964 | C/T | intron variant | — |
| rs4646176 | X:15,587,504 | C/A | — | — |
| rs4646174 | X:15,588,271 | C/A | — | — |
| rs201715513 | X:15,588,474 | C/A | — | likely benign |
| rs2519677082 | X:15,589,795 | C/T | — | uncertain significance |
| rs1927045971 | X:15,590,445 | A/G | — | uncertain significance |
| rs879922 | X:15,590,807 | C/G | intron variant | — |
| rs2519680462 | X:15,591,515 | C/G | — | uncertain significance |
| rs2519688557 | X:15,596,367 | T/C | — | uncertain significance |
| rs750477605 | X:15,596,408 | G/A | — | likely benign |
| rs4646156 | X:15,597,043 | A/T | intron variant | — |
| rs4646155 | X:15,597,509 | C/T | intron variant | — |
| rs2519692553 | X:15,599,387 | C/T | — | uncertain significance |
| rs4646188 | X:15,601,343 | A/G | intron variant | — |
| rs2519697676 | X:15,603,669 | T/C | — | uncertain significance |
| rs2519701547 | X:15,607,470 | T/C | — | likely benign |
| rs372272603 | X:15,607,508 | G/A | — | uncertain significance |
| rs757946598 | X:15,607,586 | G/T | — | likely benign |
| rs2048683 | X:15,608,499 | T/G | intron variant | — |
| rs2519704915 | X:15,609,937 | C/T | — | uncertain significance |
| rs2285666 | X:15,610,348 | C/T | splice region variant | — |
| rs6632677 | X:15,614,872 | G/C | intron variant | — |
| rs2106809 | X:15,618,061 | A/C | — | — |
| rs1978124 | X:15,618,063 | T/G | — | — |
| rs2519715048 | X:15,618,880 | G/C | — | uncertain significance |
| rs4646116 | X:15,618,958 | T/C | — | likely benign |
| rs190509934 | X:15,620,340 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.