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
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, 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. [provided by RefSeq, Jan 2010]
Expression: Biased expression in lung (RPKM 5.8), endometrium (RPKM 4.4) and 2 other tissues See more
Orthologs: mouse all

Genomic context

Location:: Xq23

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	X	NC_000023.11 (116170705..116174972)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (115301958..115306225)

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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

There was no association between AT2R gene polymorphisms and ACE level in serum. Moreover, there was no association between AT2R gene polymorphisms and SLE clinical manifestations in Egyptian children.
Title: Angiotensin II type 2 receptor gene polymorphisms and serum angiotensin-converting enzyme level in Egyptian children with systemic lupus erythematosus.
Report low expression of AGTR2 in human adrenocortical zona glomerulosa and in aldosterone-producing adenomas and suggest lack of functional role for this protein.
Title: The angiotensin type 2 receptor in the human adrenocortical zona glomerulosa and in aldosterone-producing adenoma: low expression and no functional role.
Intracrine action of angiotensin II in mesangial cells: subcellular distribution of angiotensin II receptor subtypes AT1 and AT2
Title: Intracrine action of angiotensin II in mesangial cells: subcellular distribution of angiotensin II receptor subtypes AT<sub>1</sub> and AT<sub>2</sub>.
rs5193, rs1403543 and rs12710567 of AT2R gene might have no effect on pregnancy-induced hypertension risk among Chinese Han women.
Title: Association of angiotensin receptor 2 gene polymorphisms with pregnancy induced hypertension risk.
It was found that the AGTR2 A-allele is a candidate genetic marker for top-level power athletes. Carriers of the minor allele (A-allele in males and A/A genotype in females) may possess some molecular advantage in developing muscle strength and power traits.
Title: The AGTR2 rs11091046 (A>C) polymorphism and power athletic status in top-level Brazilian athletes.
The effects ofgenetic polymorphisms and diet on the risk of metabolic disorders predisposing to cardiovascular diseases among Malay, Chinese, and South Asian persons are reported.
Title: Association and Interaction Effect of AGTR1 and AGTR2 Gene Polymorphisms with Dietary Pattern on Metabolic Risk Factors of Cardiovascular Disease in Malaysian Adults.
The genotypes of REN, AT1R and AT2R were not associated with the development of preeclampsia in South African Black women.
Title: Association of gene polymorphisms of four components of renin-angiotensin-aldosterone system and preeclampsia in South African black women.
These data indicate that Ang II-AT2R regulates human bone marrow MSC migration by signaling through the FAK and RhoA/Cdc42 pathways.
Title: Ang II-AT2R increases mesenchymal stem cell migration by signaling through the FAK and RhoA/Cdc42 pathways in vitro.
Low levels of AT2R is associated with angiogenesis in bladder cancer.
Title: Angiotensin II type 2 receptor promotes apoptosis and inhibits angiogenesis in bladder cancer.
angiotensin II type 2 receptor activation in inguinal adipocytes opposes norepinephrine-induced uncoupling protein-1 (UCP1) production and aspects of cellular respiration
Title: Suppression of Resting Metabolism by the Angiotensin AT2 Receptor.

Submit: New GeneRIF Correction See all GeneRIFs (145)

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

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ACE Inhibitor Pathway, organism-specific biosystem (from WikiPathways)
ACE Inhibitor Pathway, organism-specific biosystemThe core of this pathway was elucidated over a century ago and involves the conversion of angiotensinogen to angiotensin I (Ang I) by renin, its subsequent conversion to angiotensin II (Ang II) by an...
Adrenergic signaling in cardiomyocytes, organism-specific biosystem (from KEGG)
Adrenergic signaling in cardiomyocytes, organism-specific biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
Adrenergic signaling in cardiomyocytes, conserved biosystem (from KEGG)
Adrenergic signaling in cardiomyocytes, conserved biosystemCardiac myocytes express at least six subtypes of adrenergic receptor (AR) which include three subtypes of beta-AR (beta-1, beta-2, beta-3) and three subtypes of the alpha-1-AR (alpha-1A, alpha-1B, a...
Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
GPCR downstream signaling, organism-specific biosystem (from REACTOME)
GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
GPCR ligand binding, organism-specific biosystem (from REACTOME)
GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
Neuroactive ligand-receptor interaction, organism-specific biosystem
Neuroactive ligand-receptor interaction
Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
Neuroactive ligand-receptor interaction, conserved biosystem
Neuroactive ligand-receptor interaction
Peptide GPCRs, organism-specific biosystem (from WikiPathways)
Peptide GPCRs, organism-specific biosystem
Peptide GPCRs
Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
Renin-angiotensin system, organism-specific biosystem (from KEGG)
Renin-angiotensin system, organism-specific biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
Renin-angiotensin system, conserved biosystem (from KEGG)
Renin-angiotensin system, conserved biosystemThe renin-angiotensin system (RAS) is a peptidergic system with endocrine characteristics regarding to the regulation of the blood pressure and hydro-electrolytic balance. In the classical RAS, the ...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by GPCR, organism-specific biosystem (from REACTOME)
Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

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

Homology

Homologs of the AGTR2 gene: The AGTR2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 221 organisms have orthologs with human gene AGTR2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
G protein-coupled receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
angiotensin type II receptor activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
angiotensin type II receptor activity	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor antagonist activity	TAS Traceable Author Statement more info	PubMed
transcription factor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
G protein-coupled receptor signaling pathway	IC Inferred by Curator more info	PubMed
G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger	ISS Inferred from Sequence or Structural Similarity more info	PubMed
aldosterone secretion	IEA Inferred from Electronic Annotation more info
angiotensin-activated signaling pathway	IEA Inferred from Electronic Annotation more info
angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure	IEA Inferred from Electronic Annotation more info
blood vessel remodeling	TAS Traceable Author Statement more info	PubMed
brain development	NAS Non-traceable Author Statement more info	PubMed
brain renin-angiotensin system	IEA Inferred from Electronic Annotation more info
cell growth involved in cardiac muscle cell development	IEA Inferred from Electronic Annotation more info
cell surface receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
cellular sodium ion homeostasis	IEA Inferred from Electronic Annotation more info
cerebellar cortex development	IEA Inferred from Electronic Annotation more info
dopamine biosynthetic process	IEA Inferred from Electronic Annotation more info
exploration behavior	IEA Inferred from Electronic Annotation more info
inflammatory response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
intracellular signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
negative regulation of blood vessel endothelial cell migration	NAS Non-traceable Author Statement more info	PubMed
negative regulation of cell growth	TAS Traceable Author Statement more info	PubMed
negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of heart rate	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of icosanoid secretion	IEA Inferred from Electronic Annotation more info
negative regulation of neurotrophin TRK receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of norepinephrine secretion	IEA Inferred from Electronic Annotation more info
negative regulation of signaling receptor activity	IEA Inferred from Electronic Annotation more info
nitric oxide mediated signal transduction	IC Inferred by Curator more info	PubMed
nitric oxide mediated signal transduction	TAS Traceable Author Statement more info	PubMed
positive regulation of blood vessel diameter	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of branching involved in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of cytokine secretion	IEA Inferred from Electronic Annotation more info
positive regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of metanephric glomerulus development	IEA Inferred from Electronic Annotation more info
positive regulation of nitric oxide biosynthetic process	IC Inferred by Curator more info	PubMed
positive regulation of nitric-oxide synthase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of renal sodium excretion	IEA Inferred from Electronic Annotation more info
positive regulation of transcription, DNA-templated	IEA Inferred from Electronic Annotation more info
regulation of blood pressure	TAS Traceable Author Statement more info	PubMed
regulation of metanephros size	IEA Inferred from Electronic Annotation more info
regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
regulation of systemic arterial blood pressure by circulatory renin-angiotensin	ISS Inferred from Sequence or Structural Similarity more info
renin-angiotensin regulation of aldosterone production	IEA Inferred from Electronic Annotation more info
vasodilation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
integral component of plasma membrane	IC Inferred by Curator more info	PubMed
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: type-2 angiotensin II receptor

Names: 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.