Gene Gene information from NCBI Gene database.
Entrez ID 183
Gene name Angiotensinogen
Gene symbol AGT
Synonyms (NCBI Gene)
ANHUSERPINA8hFLT1
Chromosome 1
Chromosome location 1q42.2
Summary The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin co
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs699 A>G Benign, risk-factor Coding sequence variant, missense variant
rs74315283 C>A,T Pathogenic Missense variant, coding sequence variant
rs121912702 G>A Pathogenic Stop gained, coding sequence variant
rs387906578 A>-,AA Pathogenic Coding sequence variant, frameshift variant, stop gained
rs747815674 C>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
116
miRTarBase ID miRNA Experiments Reference
MIRT028917 hsa-miR-26b-5p Microarray 19088304
MIRT2168949 hsa-miR-3613-3p CLIP-seq
MIRT2168950 hsa-miR-4457 CLIP-seq
MIRT2168951 hsa-miR-513b CLIP-seq
MIRT2168952 hsa-miR-548c-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
NFKB1 Unknown 10628750;8613256
RELA Unknown 10628750;8613256
SP1 Unknown 12032593
USF1 Repression 18802024
YBX1 Activation 11829142
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
87
GO ID Ontology Definition Evidence Reference
GO:0001558 Process Regulation of cell growth NAS 17159080
GO:0001819 Process Positive regulation of cytokine production IDA 17906677
GO:0001822 Process Kidney development IMP 16116425
GO:0001974 Process Blood vessel remodeling TAS 10406457
GO:0002016 Process Regulation of blood volume by renin-angiotensin NAS 17159080
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
106150 333 ENSG00000135744
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01019
Protein name Angiotensinogen (Serpin A8) [Cleaved into: Angiotensin-1 (Angiotensin 1-10) (Angiotensin I) (Ang I); Angiotensin-2 (Angiotensin 1-8) (Angiotensin II) (Ang II); Angiotensin-3 (Angiotensin 2-8) (Angiotensin III) (Ang III) (Des-Asp[1]-angiotensin II); Angiot
Protein function Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. ; [Angioten
PDB 1N9U , 1N9V , 2JP8 , 2WXW , 2X0B , 3CK0 , 3WOO , 3WOR , 4AA1 , 4APH , 4FYS , 5E2Q , 5M3X , 5M3Y , 5XJM , 6I3F , 6I3I , 6JOD , 6OS0 , 7C6A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00079 Serpin 108 481 Serpin (serine protease inhibitor) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma. {ECO:0000269|PubMed:1692023}.
Sequence
Sequence length 485
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
100
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Anhydramnios Likely pathogenic rs2102791328, rs387906578 RCV001807655
RCV001807656
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Essential hypertension, genetic Likely pathogenic; Pathogenic rs778806374, rs747815674 RCV002496897
RCV002489210
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Large fontanelles Likely pathogenic rs2102791328, rs387906578 RCV001807655
RCV001807656
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular dysgenesis Likely pathogenic; Pathogenic rs74315283, rs121912702, rs387906578, rs776421645 RCV000019696
RCV000019697
RCV000019698
RCV001175178
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AGT-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANURIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations