AGTR2 angiotensin II receptor type 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AGTR2provided by HGNC
Official Full Name: angiotensin II receptor type 2provided by HGNC
Primary source: HGNC:HGNC:338
See related: Ensembl:ENSG00000180772 MIM:300034; AllianceGenome:HGNC:338
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AT2; ATGR2; MRX88
Summary: The protein encoded by this gene belongs to the G-protein coupled receptor 1 family, and functions as a receptor for angiotensin II. It is an intergral membrane protein that is highly expressed in fetus and in neonates, but scantily in adult tissues, except brain, adrenal medulla, and atretic ovary. This receptor has been shown to mediate programmed cell death and this apoptotic function may play an important role in developmental biology and pathophysiology. Mutations in this gene are been associated with X-linked cognitive disability. Severe Acute Respiratory Syndrome Coronavirus (SARS-CoV) and SARS-CoV-2 infection results in down-regulation of angiotensin converting enzyme-2 (ACE2) receptors, the effects of which, triggers serious inflammatory lesions in the tissues involved, primarily in the lungs. The inflammatory reaction appears to be mediated by angiotensin II derivatives, including the angiotensin AT2 receptor which has been found to be upregulated in bronchoalveolar lavage samples from Coronavirus disease 2019 (COVID19) patients. [provided by RefSeq, Jul 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression: Biased expression in lung (RPKM 5.8), endometrium (RPKM 4.4) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (116170744..116174974)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (114580328..114584558)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (115301997..115306227)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy.
Title: Regulation of vascular angiotensin II type 1 and type 2 receptor and angiotensin-(1-7)/MasR signaling in normal and hypertensive pregnancy.
Angiotensin II type 2 receptor-mediated dilation is greater in the cutaneous microvasculature of premenopausal women compared with men.
Title: Angiotensin II type 2 receptor-mediated dilation is greater in the cutaneous microvasculature of premenopausal women compared with men.
A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth.
Title: A functional mechanism for a non-coding variant near AGTR2 associated with risk for preterm birth.
Angiotensin II type 2 receptor prevents extracellular matrix accumulation in human peritoneal mesothelial cell by ameliorating lipid disorder via LOX-1 suppression.
Title: Angiotensin II type 2 receptor prevents extracellular matrix accumulation in human peritoneal mesothelial cell by ameliorating lipid disorder via LOX-1 suppression.
The Role of ACE, ACE2, and AGTR2 Polymorphisms in COVID-19 Severity and the Presence of COVID-19-Related Retinopathy.
Title: The Role of ACE, ACE2, and AGTR2 Polymorphisms in COVID-19 Severity and the Presence of COVID-19-Related Retinopathy.
Exploring AT2R and its Polymorphism in Different Diseases: An Approach to Develop AT2R as a Drug Target beyond Hypertension.
Title: Exploring AT2R and its Polymorphism in Different Diseases: An Approach to Develop AT2R as a Drug Target beyond Hypertension.
AT2R activation increases in vitro angiogenesis in pregnant human uterine artery endothelial cells.
Title: AT2R activation increases in vitro angiogenesis in pregnant human uterine artery endothelial cells.
Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia.
Title: Association of maternal angiotensin II type 1 and type 2 receptor combination genotypes with susceptibility to early-onset preeclampsia.
Colon adenocarcinoma-derived cells possessing stem cell function can be modulated using renin-angiotensin system inhibitors.
Title: Colon adenocarcinoma-derived cells possessing stem cell function can be modulated using renin-angiotensin system inhibitors.
GABA is a mediator of brain AT1 and AT2 receptor-mediated blood pressure responses.
Title: GABA is a mediator of brain AT(1) and AT(2) receptor-mediated blood pressure responses.

Submit: New GeneRIF Correction See all GeneRIFs (168)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-05-10) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-05-10) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AGTR2 (e-PCR)
- UniSTS:498204

GDB:360300 (e-PCR)
- UniSTS:156714

AGTR2__4208 (e-PCR)
- UniSTS:462720

PMC153509P1 (e-PCR)
- UniSTS:271257

STS-U20860 (e-PCR)
- UniSTS:28413

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables angiotensin type II receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables angiotensin type II receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables angiotensin type II receptor activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor antagonist activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in G protein-coupled receptor signaling pathway	IC Inferred by Curator more info	PubMed
involved_in G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in angiotensin-activated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
involved_in blood vessel remodeling	TAS Traceable Author Statement more info	PubMed
involved_in brain development	NAS Non-traceable Author Statement more info	PubMed
involved_in brain renin-angiotensin system	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of blood vessel endothelial cell migration	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell growth	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neurotrophin TRK receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in nitric oxide-cGMP-mediated signaling	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in nitric oxide-cGMP-mediated signaling	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of metanephric glomerulus development	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	TAS Traceable Author Statement more info	PubMed
involved_in regulation of metanephros size	IEA Inferred from Electronic Annotation more info
involved_in regulation of systemic arterial blood pressure by circulatory renin-angiotensin	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasodilation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IC Inferred by Curator more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: type-2 angiotensin II receptor

Names: AT2 receptor; angiotensin II type-2 receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016326.1 RefSeqGene

Range

5040..9270

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000686.5 → NP_000677.2 type-2 angiotensin II receptor isoform 1

See identical proteins and their annotated locations for NP_000677.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AI911273, AL732602, BC095504, CR738498, DA538369, U16957

Consensus CDS

CCDS14569.1

UniProtKB/Swiss-Prot

B2R9V1, P50052, Q13016, Q6FGY7

Related

ENSP00000360973.4, ENST00000371906.5

Conserved Domains (1) summary

cd15191
Location:45 → 329

7tmA_AT2R; type 2 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001385624.1 → NP_001372553.1 type-2 angiotensin II receptor isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the non-coding region compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL732602

Consensus CDS

CCDS14569.1

UniProtKB/Swiss-Prot

B2R9V1, P50052, Q13016, Q6FGY7

Related

ENSP00000505750.1, ENST00000681852.1

Conserved Domains (1) summary

cd15191
Location:45 → 329

7tmA_AT2R; type 2 angiotensin II receptor, member of the class A family of seven-transmembrane G protein-coupled receptors