HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AGTR1
angiotensin II receptor type 1
Chromosome 3 Β· 3q24
NCBI Gene: 185Ensembl: ENSG00000144891HGNC: HGNC:336UniProt: A0A0A0MSE3
997PubMed Papers
21Diseases
24Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of cholesterol metabolic processangiotensin type I receptor activitykidney developmentmaintenance of blood vessel diameter homeostasis by renin-angiotensinrenal tubular dysgenesishypertensionrenal tubular dysgenesis of genetic originessential hypertension
✦AI Summary

AGTR1 (angiotensin II receptor type 1) is a G protein-coupled receptor that mediates angiotensin II signaling in cardiovascular and renal homeostasis 1. The receptor activates phospholipase C-dependent signaling cascades, regulating blood vessel diameter, calcium mobilization, and inflammatory responses. AGTR1 also participates in the AGTR1-Notch1 axis, which controls cell stemness and chemotherapy responses in acute myeloid leukemia 2. Genetically, AGTR1 polymorphisms significantly influence disease susceptibility. The A1166C polymorphism increases diabetic nephropathy risk, particularly in Asian and Type 2 diabetes populations 3, while rs5186 variants associate with retinopathy of prematurity progression and treatment failure 4. AGTR1 SNPs including rs5186 and rs388915 confer susceptibility to diabetic kidney disease in Type 2 diabetes patients 1. In eclampsia, multiple AGTR1 polymorphisms (rs1799870, rs144520513, rs529360494) correlate with disease onset and alter coagulation and lipid profiles 5. Epigenetic regulation also matters; AGTR1 gene hypomethylation associates with essential hypertension in Chinese farmers 6. Gene-gene interactions between AGTR1 and PPARΞ³ polymorphisms modulate nonalcoholic fatty liver disease risk 7. However, meta-analyses question whether some AGTR1 variants (rs5186) directly predict hypertension susceptibility 8, suggesting complex gene-environment interactions.

Sources cited
1
AGTR1 gene polymorphisms (rs5186, rs388915) associate with diabetic kidney disease risk in Type 2 diabetes patients
PMID: 40038011
2
AGTR1 polymorphisms (rs1799870, rs144520513, rs529360494) correlate with eclampsia onset and alter coagulation/lipid profiles
PMID: 33378010
3
AGTR1 gene hypomethylation associates with essential hypertension in Chinese farmers
PMID: 35866766
4
Meta-analysis found no statistically significant association between AGTR1 rs5186 polymorphism and hypertension predisposition
PMID: 41816957
5
AGTR1-Notch1 axis regulates cell stemness, chemotherapy resistance in AML, and cardiotoxicity; AGTR1 inhibition sensitizes AML to chemotherapy
PMID: 38896605
6
AGTR1 rs5186C allele increases risk of proliferative retinopathy of prematurity and treatment failure; meta-analysis confirms recessive effect
PMID: 39186201
7
Gene-gene interactions between AGTR1 and PPARΞ³ polymorphisms associate with nonalcoholic fatty liver disease risk in Chinese adults
PMID: 30793973
8
AGTR1 A1166C polymorphism increases diabetic nephropathy susceptibility, particularly in Asian and Type 2 diabetes populations
PMID: 30313019
Disease Associationsβ“˜21
renal tubular dysgenesisOpen Targets
0.75Strong
hypertensionOpen Targets
0.74Strong
renal tubular dysgenesis of genetic originOpen Targets
0.73Strong
essential hypertensionOpen Targets
0.71Strong
heart failureOpen Targets
0.61Moderate
myocardial infarctionOpen Targets
0.61Moderate
essential hypertension, geneticOpen Targets
0.61Moderate
kidney diseaseOpen Targets
0.61Moderate
congestive heart failureOpen Targets
0.60Moderate
strokeOpen Targets
0.60Moderate
cardiovascular diseaseOpen Targets
0.60Moderate
diabetes mellitusOpen Targets
0.59Moderate
diabetic nephropathyOpen Targets
0.58Moderate
type 2 diabetes mellitusOpen Targets
0.56Moderate
ProteinuriaOpen Targets
0.55Moderate
chronic kidney diseaseOpen Targets
0.55Moderate
IGA glomerulonephritisOpen Targets
0.54Moderate
angina pectorisOpen Targets
0.51Moderate
SepsisOpen Targets
0.47Moderate
septic shockOpen Targets
0.45Moderate
Renal tubular dysgenesisUniProt
Pathogenic Variants13
NM_000685.5(AGTR1):c.415C>T (p.Arg139Ter)Pathogenic
Renal tubular dysgenesis of genetic origin|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 139
NM_000685.5(AGTR1):c.696_700del (p.Pro233fs)Likely pathogenic
not provided|Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024β†’ Residue 233
NM_000685.5(AGTR1):c.599dup (p.Asn200fs)Likely pathogenic
Essential hypertension;Renal tubular dysgenesis|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 200
NM_000685.5(AGTR1):c.233del (p.Leu78fs)Pathogenic
Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2025β†’ Residue 78
NM_000685.5(AGTR1):c.-47-10764C>TPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000685.5(AGTR1):c.340del (p.Ala114fs)Likely pathogenic
Renal tubular dysgenesis of genetic origin;Essential hypertension, genetic
β˜…β˜†β˜†β˜†2024β†’ Residue 114
NM_000685.5(AGTR1):c.337dup (p.Tyr113fs)Likely pathogenic
Renal tubular dysgenesis of genetic origin;Essential hypertension, genetic
β˜…β˜†β˜†β˜†2024β†’ Residue 113
NM_000685.5(AGTR1):c.166del (p.Tyr56fs)Likely pathogenic
Renal tubular dysgenesis of genetic origin;Essential hypertension, genetic
β˜…β˜†β˜†β˜†2024β†’ Residue 56
NM_000685.5(AGTR1):c.251G>A (p.Trp84Ter)Pathogenic
Renal tubular dysgenesis|Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_000685.5(AGTR1):c.376C>T (p.Arg126Ter)Likely pathogenic
Renal tubular dysgenesis|Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2023β†’ Residue 126
NM_000685.5(AGTR1):c.879del (p.Phe293fs)Likely pathogenic
Renal tubular dysgenesis
β˜…β˜†β˜†β˜†2021β†’ Residue 293
NM_000685.5(AGTR1):c.110dup (p.Ile38fs)Likely pathogenic
Renal tubular dysgenesis
β˜…β˜†β˜†β˜†2021β†’ Residue 38
NM_000685.5(AGTR1):c.845C>T (p.Thr282Met)Pathogenic
Renal tubular dysgenesis
β˜†β˜†β˜†β˜†2005β†’ Residue 282
View on ClinVar β†—
Drug Targets24
ANGIOTENSIN IIApproved
Type-1 angiotensin II receptor agonist
cardiovascular disease
ANGIOTENSIN II ACETATEApproved
Type-1 angiotensin II receptor agonist
Shock
AZILSARTANApproved
Type-1 angiotensin II receptor antagonist
hypertension
AZILSARTAN KAMEDOXOMILApproved
Type-1 angiotensin II receptor antagonist
AZILSARTAN MEDOXOMILApproved
Type-1 angiotensin II receptor antagonist
cardiovascular disease
CANDESARTANApproved
Type-1 angiotensin II receptor antagonist
hypertension
CANDESARTAN CILEXETILApproved
Type-1 angiotensin II receptor antagonist
congestive heart failure
EPROSARTANApproved
Type-1 angiotensin II receptor antagonist
cardiovascular disease
EPROSARTAN MESYLATEApproved
Type-1 angiotensin II receptor antagonist
hypertension
FIMASARTANApproved
Type-1 angiotensin II receptor antagonist
cardiovascular disease
IRBESARTANApproved
Type-1 angiotensin II receptor antagonist
hypertension
IRBESARTAN HYDROCHLORIDEApproved
Type-1 angiotensin II receptor antagonist
hypertension
LOSARTANApproved
Type-1 angiotensin II receptor antagonist
hypertension
LOSARTAN POTASSIUMApproved
Type-1 angiotensin II receptor antagonist
kidney disease
OLMESARTANApproved
Type-1 angiotensin II receptor antagonist
hypertension
OLMESARTAN MEDOXOMILApproved
Type-1 angiotensin II receptor antagonist
PRATOSARTANPhase III
Solute carrier family 22 member 8 inhibitor
hypertension
SARALASINApproved
Type-1 angiotensin II receptor antagonist
hypertension
SARALASIN ACETATEApproved
Type-1 angiotensin II receptor antagonist
hypertension
SPARSENTANApproved
Endothelin receptor ET-A antagonist
IGA glomerulonephritis
TASOSARTANApproved
Type-1 angiotensin II receptor antagonist
cardiovascular disease
TELMISARTANApproved
Type-1 angiotensin II receptor antagonist
hypertension
TRV-120027Phase II/III
Type-1 angiotensin II receptor antagonist
COVID-19
VALSARTANApproved
Type-1 angiotensin II receptor antagonist
congestive heart failure
Related Genes
ATP6AP2Protein interaction100%SAGProtein interaction99%AGTRAPProtein interaction98%GNAQProtein interaction97%SERPINE1Protein interaction95%APLNRProtein interaction95%
Tissue Expression6 tissues
Liver
100%
Heart
15%
Lung
14%
Ovary
3%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AGTR1ATP6AP2SAGAGTRAPGNAQSERPINE1APLNR
PROTEIN STRUCTURE
Preparing viewer…
PDB6OS2 Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.49–1.11]
RankingsWhere AGTR1 stands among ~20K protein-coding genes
  • #160of 20,598
    Most Researched997 Β· top 1%
  • #74of 1,025
    FDA-Approved Drug Targets22 Β· top 10%
  • #2,553of 5,498
    Most Pathogenic Variants13
  • #11,413of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedAGTR1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Diabetic kidney disease and polymorphisms of the ELMO1 and AGTR1 genes: Systematic review.
PMID: 40038011
Nefrologia (Engl Ed) Β· 2025
1.00
2
Relationship between onset of eclampsia and AGTR1 gene polymorphisms.
PMID: 33378010
Eur Rev Med Pharmacol Sci Β· 2020
0.90
3
Association of AGTR1 and ACE2 gene polymorphisms with structural atrial fibrillation in a Chinese Han population.
PMID: 29441892
Pharmazie Β· 2017
0.88
4
Interactions Between PPARG and AGTR1 Gene Polymorphisms on the Risk of Hypertension in Chinese Han Population.
PMID: 29266977
Genet Test Mol Biomarkers Β· 2018
0.86
5
Association and Interaction Effect of AGTR1 and AGTR2 Gene Polymorphisms with Dietary Pattern on Metabolic Risk Factors of Cardiovascular Disease in Malaysian Adults.
PMID: 28792482
Nutrients Β· 2017
0.82