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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AGT
angiotensinogen
Chromosome 1 Β· 1q42.2
NCBI Gene: 183Ensembl: ENSG00000135744HGNC: HGNC:333UniProt: A0A7P0T8D1
1,161PubMed Papers
22Diseases
1Drugs
17Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of cholesterol metabolic processpositive regulation of extracellular matrix assemblypositive regulation of miRNA transcriptionresponse to angiotensinrenal tubular dysgenesisrenal tubular dysgenesis of genetic originhypertensionessential hypertension
✦AI Summary

Angiotensinogen (AGT) is a key component of the renin-angiotensin system that functions as a substrate for angiotensin production and regulates blood pressure homeostasis. AGT serves as a ligand for the G-protein coupled receptor MAS1, exerting vasodilator and antidiuretic effects while promoting antithrombotic activity through MAS1-mediated nitric oxide release from platelets. The gene plays critical roles in blood vessel diameter maintenance, kidney development, and extracellular signaling. Genetic variants in AGT significantly influence disease susceptibility across multiple conditions. The G-217A polymorphism demonstrates strong association with essential hypertension risk, with AA genotype carriers showing 2.52-fold increased risk compared to GG carriers 1, and rs2493134 variants conferring 3.24-fold increased risk of plateau hypertension 2. AGT polymorphisms also associate with coronary artery disease susceptibility in Eastern Asian populations, particularly the M235T variant showing significant associations in Chinese cohorts 3. Additionally, AGT variants correlate with neonatal hypoxic-ischemic encephalopathy risk 4 and global COVID-19 mortality disparities 5. However, AGT polymorphisms demonstrate weak or non-significant associations with preeclampsia 6 and cancer susceptibility 7, while M235T variants show protective effects against adult Henoch-SchΓΆnlein purpura 8. Clinically, AGT genetic screening may help identify individuals at elevated cardiovascular and hypertension risk, particularly in specific ethnic populations.

Sources cited
1
AGT G-217A polymorphism significantly associated with essential hypertension risk (AA vs GG: OR = 2.52)
PMID: 26125750
2
rs2493134 in AGT associated with 3.24-fold increased plateau hypertension risk in Tibetan population
PMID: 34758666
3
AGT M235T polymorphism associated with coronary artery disease susceptibility in Eastern Asian, particularly Chinese populations
PMID: 36042680
4
rs2067853 polymorphism in AGT gene associated with neonatal hypoxic-ischemic encephalopathy
PMID: 30915766
5
AGT A/G polymorphism variants significantly correlated with COVID-19 mortality rates worldwide (r = 0.7576)
PMID: 36853865
6
AGT gene polymorphisms show weak associations with preeclampsia that lost significance after multiple testing correction
PMID: 35030476
7
AGT M235T polymorphism not significantly associated with cancer susceptibility
PMID: 35317386
8
M allele in AGT M235T polymorphism protective against HSP risk in adults; TT genotype is risk factor
PMID: 25350836
Disease Associationsβ“˜22
renal tubular dysgenesisOpen Targets
0.74Strong
renal tubular dysgenesis of genetic originOpen Targets
0.69Moderate
hypertensionOpen Targets
0.66Moderate
essential hypertensionOpen Targets
0.59Moderate
essential hypertension, geneticOpen Targets
0.48Moderate
cardiovascular diseaseOpen Targets
0.45Moderate
atrial fibrillationOpen Targets
0.41Moderate
Increased blood pressureOpen Targets
0.41Moderate
congenital anomaly of kidney and urinary tractOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.35Weak
AnhydramniosOpen Targets
0.35Weak
Large fontanellesOpen Targets
0.33Weak
ocular hypotensionOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.28Weak
response to xenobiotic stimulusOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
congenital disorder of glycosylation, type IIqOpen Targets
0.18Weak
achalasia-alacrima syndromeOpen Targets
0.12Weak
IGA glomerulonephritisOpen Targets
0.12Weak
Essential hypertensionUniProt
Renal tubular dysgenesisUniProt
Pathogenic Variants17
NC_000001.11:g.230705933C>TPathogenic
Renal tubular dysgenesis|not provided
β˜…β˜…β˜†β˜†2024
NM_001384479.1(AGT):c.829+1G>TPathogenic
not provided|Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin|Renal tubular dysgenesis of genetic origin
β˜…β˜…β˜†β˜†2024
NM_001384479.1(AGT):c.1060C>TPathogenic
Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin|not provided
β˜…β˜…β˜†β˜†2021
NM_001384479.1(AGT):c.686del (p.Ser229fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 229
NM_001384479.1(AGT):c.1097G>C (p.Arg366Pro)Likely pathogenic
Unexplained young onset end-stage renal disease
β˜…β˜†β˜†β˜†2025β†’ Residue 366
NM_001384479.1(AGT):c.911_923del (p.Leu304fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 304
NM_001384479.1(AGT):c.526C>T (p.Gln176Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 176
NM_001384479.1(AGT):c.876G>A (p.Trp292Ter)Likely pathogenic
Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2024β†’ Residue 292
NM_001384479.1(AGT):c.816C>G (p.Tyr272Ter)Likely pathogenic
Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2024β†’ Residue 272
NM_001384479.1(AGT):c.1264G>T (p.Glu422Ter)Likely pathogenic
Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2024β†’ Residue 422
NM_001384479.1(AGT):c.1195G>T (p.Glu399Ter)Likely pathogenic
Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2024β†’ Residue 399
NM_001384479.1(AGT):c.53G>A (p.Trp18Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 18
NM_001384479.1(AGT):c.1212del (p.Lys404fs)Likely pathogenic
Renal tubular dysgenesis of genetic origin
β˜…β˜†β˜†β˜†2022β†’ Residue 404
NM_001384479.1(AGT):c.161_162delinsT (p.Lys54fs)Likely pathogenic
Anhydramnios;Large fontanelles
β˜…β˜†β˜†β˜†2021β†’ Residue 54
NC_000001.11:g.230710247G>APathogenic
Renal tubular dysgenesis
β˜†β˜†β˜†β˜†2012
NC_000001.11:g.230703316delPathogenic
Renal tubular dysgenesis
β˜†β˜†β˜†β˜†2006
NM_001384479.1(AGT):c.77G>A (p.Arg26Gln)Likely pathogenic
Renal tubular dysgenesis
β˜†β˜†β˜†β˜†β†’ Residue 26
View on ClinVar β†—
Drug Targets1
GSK-2586881Phase II
Angiotensinogen hydrolytic enzyme
acute lung injury
Related Genes
ADMProtein interaction100%KNG1Protein interaction100%TMPRSS2Protein interaction100%MMEL1Protein interaction100%MAS1LProtein interaction100%LPAR1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
11%
Brain
8%
Lung
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AGTADMKNG1TMPRSS2MMEL1MAS1LLPAR1
PROTEIN STRUCTURE
Preparing viewer…
PDB3WOO Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.87 [0.63–1.20]
RankingsWhere AGT stands among ~20K protein-coding genes
  • #127of 20,598
    Most Researched1,161 Β· top 1%
  • #2,304of 5,498
    Most Pathogenic Variants17
  • #12,624of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedAGT
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Preclinical evaluation of AGT mRNA replacement therapy for primary hyperoxaluria type I disease.
PMID: 40203111
Sci Adv Β· 2025
1.00
2
Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world.
PMID: 15077204
Am J Hum Genet Β· 2004
0.92
3
Association between G-217A polymorphism in the AGT gene and essential hypertension: a meta-analysis.
PMID: 26125750
Genet Mol Res Β· 2015
0.90
4
Angiotensinogen variants and human hypertension.
PMID: 10981040
Curr Hypertens Rep Β· 1999
0.90
5
Upregulation of human angiotensinogen (AGT) gene transcription by interferon-gamma: involvement of the STAT1-binding motif in the AGT promoter.
PMID: 16949687
Biochim Biophys Acta Β· 2006
0.88