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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)