AGTR2
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
AGTR2 (HGNC:338) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
angiotensin II receptor type 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
AT2, MRX88
%HI
25.02(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
1.31(Read more about gnomAD LOEUF score)
Cytoband
Xq23
Genomic Coordinates
GRCh37/hg19: chrX:115301997-115306227 NCBI Ensembl UCSC
GRCh38/hg38: chrX:116170744-116174974 NCBI Ensembl UCSC
MANE Select Transcript
NM_000686.5 ENST00000371906.5 (Read more about MANE Select)
Function
Receptor for angiotensin II, a vasoconstricting peptide (PubMed:8185599, PubMed:28379944, PubMed:29967536, PubMed:31899086). Signals primarily via a non-canonical G-protein- and beta-arrestin independent pathways (PubMed:28379944). Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation (PubMed:15123706). {ECO:0000269|PubMed:15123706, ECO:0000269|PubMed:28379944, ECO:0000269|PubMed:29967536, ECO:0000269|PubMed:31899086, ECO:0000269|PubMed:8185599}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-29728
ClinGen Curation ID:
CCID:006636
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
05/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
  • intellectual disability, X-linked 88 Monarch
HI Evidence Comments:
Missense mutations and one frameshift mutation have been reported in males with intellectual disability (PMID: 12089445, 14598163, and 22269148). However, some of these missense mutations and the frameshift mutation have also been reported in normal male adults (PMID: 16283672 and 14722754). Another report of a large patient screen failed to find any disease-associated mutations (PMID: 12746399). Vervoort et al (PMID: 12089445) also report a female patient with intellectual disability and an apparentaly balanced t(X;7) with a breakpoint 150 kb upstream of AGTR2.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)