Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs2074192

Hard Link
rs2074192 is a snp on gene ACE2 (angiotensin I converting enzyme (peptidyl-dipeptidase A) 2)

GeneACE2 Chromosome number Chromosome position
Alleles (transliterated to +) Minor Allele Minor Allele Frequency
Notation C>T Clinical significance Orientation (dbSNP) - (negative/reverse strand)
Gene Function
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. In addition, the encoded protein is a functional receptor for the spike glycoprotein of the human coronaviruses SARS, HCoV-NL63, and SARS-CoV-2, the virus responsible for Covid-19. ACE2 lowers blood pressure by catalysing the cleavage of the peptide "angiotensin II" (a vasoconstrictor) into angiotensin 1–7 (a vasodilator). As a transmembrane protein, ACE2 serves as the main entry point into cells for some coronaviruses, including HCoV-NL63, SARS-CoV, the virus that causes SARS, and SARS-CoV-2, the virus that causes COVID-19. This might lead some to believe that decreasing the levels of ACE2, in cells, might help in fighting the infection. On the other hand, ACE2 has been shown to have a protective effect against virus-induced lung injury by increasing the production of the vasodilator angiotensin 1–7. Furthermore, according to studies conducted on mice, the interaction of the spike protein of the coronavirus with ACE2 induces a drop in the levels of ACE2 in cells through internalization and degradation of the protein and hence may contribute to lung damage. Both ACE inhibitors and angiotensin receptor blockers (ARBs) that are used to treat high blood pressure have been shown in a comparative study to upregulate ACE2 expression hence may affect the severity of some other coronavirus infections (e.g., SARS). However, multiple regulatory bodies have recommended continuing standard ACE inhibitor and ARB therapy. A systematic review and meta-analysis found that "use of ACE inhibitors was associated with a significant 34% reduction in risk of pneumonia compared with controls...Use of ACE inhibitors was also associated with a reduction in pneumonia related mortality, although the results were less robust than for overall risk of pneumonia."
This SNP is reported by one or more services.


23andme V3

NOT REPORTED




23andme V4

NOT REPORTED




23andme V5

NOT REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

NOT REPORTED




DSL/ Opus Chip

NOT REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

NOT CURATED




GWAS Curated

NOT CURATED





MOST RECENT SEARCHES:
rs1800450 (MBL2) | rs17000900 () | rs2660 () | rs4830974 () | rs1304029 (B3GAT2) | rs2248690 () | rs2158082 () | rs879922 () | rs4240157 () | rs2074192 () | rs2048683 ()

MOST FREQUENTLY SEARCHED:
rs429358 (APOE) | rs9939609 (FTO) | rs1801181 (CBS) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2187668 (HLA-DQA1) | rs4680 (COMT) | rs6025 (F5) | rs20541 (IL13) | rs2569191 (CD14) | rs2235544 (DIO1)








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