AGT
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AGT (HGNC:333) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
angiotensinogen
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SERPINA8
Alias symbols
No aliases found
%HI
59.54(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.2(Read more about gnomAD LOEUF score)
Cytoband
1q42.2
Genomic Coordinates
GRCh37/hg19: chr1:230838269-230881329 NCBI Ensembl UCSC
GRCh38/hg38: chr1:230702523-230745583 NCBI Ensembl UCSC
MANE Select Transcript
NM_001384479.1 ENST00000366667.6 (Read more about MANE Select)
Function
Essential component of the renin-angiotensin system (RAS), a potent regulator of blood pressure, body fluid and electrolyte homeostasis. {ECO:0000269|PubMed:10619573, ECO:0000269|PubMed:1132082, ECO:0000269|PubMed:17138938}. [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 glo... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24471
ClinGen Curation ID:
CCID:006635
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/13/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • renal tubular dysgenesis of genetic origin Monarch
HI Evidence Comments:
Biallelic loss of function mutations in AGT result in autosomal recessive renal tubular dysgenesis. See PMIDs: 17036344, 22095942. There have also been several associations established between AGT polymorphisms and health conditions, notably hypertension. These are described in OMIM (106150).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Yu et al., 2012 report a male patient with diaphragmatic hernia and other congenital anomalies who had a de novo mosaic 104 Mb duplication of most of 1q. The authors theorized that AGT could be involved in the presence of diaphragmatic hernia. However, no focal duplication of AGT have been reported.

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)