AGTR1 Chromosome 3
Angiotensin II receptor type 1
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What This Gene Does
Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Angiotensin receptors
Locus Type
gene with protein product
Location
3q24
Ensembl
ENSG00000144891
Associated Conditions (6)
Renal tubular dysgenesis
Essential hypertension
genetic
Renal tubular dysgenesis of genetic origin
AGTR1-related disorder
Inborn genetic diseases
Key Variants
RS138997091
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS143432118
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS146357970
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS200184769
Conflicting classifications of pathogenicity
Renal tubular dysgenesis, Essential hypertension, genetic
Health Risk
RS376789057
Conflicting classifications of pathogenicity
AGTR1-related disorder, Renal tubular dysgenesis of genetic origin, Essential hypertension
Health Risk
RS570056677
Conflicting classifications of pathogenicity
Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
Health Risk
RS1559934279
Likely pathogenic
Essential hypertension, Renal tubular dysgenesis, Essential hypertension
Health Risk
RS2107975487
Likely pathogenic
Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin
Health Risk
RS2107975850
Likely pathogenic
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS387906577
Likely pathogenic
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
RS397514687
Likely pathogenic
Renal tubular dysgenesis, Essential hypertension, genetic
Health Risk
RS104893677
Pathogenic
Renal tubular dysgenesis, Renal tubular dysgenesis
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138997091 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS143432118 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS146357970 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS200184769 | Health Risk | Conflicting classifications of pathogenicity | Renal tubular dysgenesis, Essential hypertension, genetic |
| RS376789057 | Health Risk | Conflicting classifications of pathogenicity | AGTR1-related disorder, Renal tubular dysgenesis of genetic origin, Essential hypertension |
| RS570056677 | Health Risk | Conflicting classifications of pathogenicity | Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin |
| RS1559934279 | Health Risk | Likely pathogenic | Essential hypertension, Renal tubular dysgenesis, Essential hypertension |
| RS2107975487 | Health Risk | Likely pathogenic | Essential hypertension, genetic, Renal tubular dysgenesis of genetic origin |
| RS2107975850 | Health Risk | Likely pathogenic | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS387906577 | Health Risk | Likely pathogenic | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS397514687 | Health Risk | Likely pathogenic | Renal tubular dysgenesis, Essential hypertension, genetic |
| RS104893677 | Health Risk | Pathogenic | Renal tubular dysgenesis, Renal tubular dysgenesis |
| RS1380295297 | Health Risk | Pathogenic | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |
| RS398122935 | Health Risk | Pathogenic | Renal tubular dysgenesis, Essential hypertension, genetic |
| RS1417391173 | Health Risk | Pathogenic/Likely pathogenic | Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin |