Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
183 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Angiotensinogen |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
AGT |
SynonymsGene synonyms aliases
|
ANHU, SERPINA8, hFLT1 |
ChromosomeChromosome number
|
1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q42.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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 converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019] |
SNPsSNP information provided by dbSNP.
|
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 |
rs778806374 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Transcription factors
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
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); Angiotensin-4 (Angiotensin 3-8) (Angiotensin IV) (Ang IV); Angiotensin 1-9; Angiotensin 1-7; Angiotensin 1-5; Angiotensin 1-4] |
Protein function |
Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis.; [Angiotensin-2]: acts directly on vascular smooth muscle as a potent vasoconstrictor, affects cardiac contractility and heart rate through its action on the sympathetic nervous system, and alters renal sodium and water absorption through its ability to stimulate the zona glomerulosa cells of the adrenal cortex to synthesize and secrete aldosterone.; [Angiotensin-3]: stimulates aldosterone release.; [Angiotensin 1-7]: is a ligand for the G-protein coupled receptor MAS1. Has vasodilator and antidiuretic effects. Has an antithrombotic effect that involves MAS1-mediated release of nitric oxide from platelets. |
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 |
|
Sequence |
|
Sequence length |
485 |
Interactions |
View interactions |