Human Gene AGTR2 (uc004eqh.4)
  Description: Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.
RefSeq Summary (NM_000686): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:115,301,958-115,306,225 Size: 4,268 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chrX:115,303,534-115,304,625 Size: 1,092 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:115,301,958-115,306,225)mRNA (may differ from genome)Protein (363 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDHuman Cortex Gene ExpressionLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AGTR2_HUMAN
DESCRIPTION: RecName: Full=Type-2 angiotensin II receptor; AltName: Full=Angiotensin II type-2 receptor; Short=AT2;
FUNCTION: Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation.
SUBUNIT: Interacts with MTUS1.
INTERACTION: P35625:TIMP3; NbExp=7; IntAct=EBI-1748067, EBI-1748085;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: In adult, highly expressed in myometrium with lower levels in adrenal gland and fallopian tube. Expressed in the cerebellum. Very highly expressed in fetal kidney and intestine.
DISEASE: Defects in AGTR2 are the cause of mental retardation X- linked type 88 (MRX88) [MIM:300852]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGTR2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): AGTR2
CDC HuGE Published Literature: AGTR2
Positive Disease Associations: blood pressure, arterial body mass glucose tolerance lipids , congenital anomalies; renal disease , hypertension , hypertension; left ventricular hypertrophy , hypertension; left ventricular structure , left ventricular mass , posttransplantation erythrocytosis
Related Studies:
  1. blood pressure, arterial body mass glucose tolerance lipids
    Kotani, K. et al. 2007, The angiotensin II type 2 receptor gene polymorphism and body mass index in healthy Japanese women, Ann Clin Biochem 2007 44(1) 83-85. [PubMed 17270098]
    These findings suggest that the AT2-R A/C(3123) polymorphism could be a polymorphic marker related to BMI in Japanese women.
  2. congenital anomalies; renal disease
    Rigoli, L. et al. 2004, Angiotensin-converting enzyme and angiotensin type 2 receptor gene genotype distributions in Italian children with congenital uropathies., Pediatric research. 2004 Dec;56(6):988-93. [PubMed 15470205]
    Our findings indicate that the ACE gene can be a risk factor in the progression of renal parenchymal damage in CAKUT patients. Moreover, a major role of the AT2R gene in the development of CAKUT has been found, at least in Italian children.
  3. hypertension
    Jin, J. J. et al. 2003, Association of angiotensin II type 2 receptor gene variant with hypertension, Hypertension research. 2003 Jul;26(7):547-52. [PubMed 12924622]
    This analysis showed that the C4599A polymorphism was associated with hypertension in women (p=0.0058), but not in men. Moreover, this female-specific association was pronounced in premenopausal women. The female-specific association may be helpful in conducting further molecular and biological studies on the relationship among sex, the renin-angiotensin system, and hypertension.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: AGTR2
Diseases sorted by gene-association score: x-linked non-specific intellectual disability* (78), vesicoureteral reflux (11), multicystic dysplastic kidney (9), malignant secondary hypertension (9), familial vesicoureteral reflux (7), ureteral obstruction (7), malignant essential hypertension (7), andersen syndrome (6), posterior urethral valves (5), pseudohyperkalemia, familial, 2, due to red cell leak (3), myocardial infarction (2), heart disease (2), hypertension, essential (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.89 RPKM in Lung
Total median expression: 2.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.09207-0.203 Picture PostScript Text
3' UTR -389.971600-0.244 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR000147 - ATII_AT2_rcpt
IPR000248 - ATII_rcpt
IPR017452 - GPCR_Rhodpsn_supfam

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

ModBase Predicted Comparative 3D Structure on P50052
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0004945 angiotensin type II receptor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0017046 peptide hormone binding
GO:0048019 receptor antagonist activity

Biological Process:
GO:0001822 kidney development
GO:0001974 blood vessel remodeling
GO:0001991 regulation of systemic arterial blood pressure by circulatory renin-angiotensin
GO:0002018 renin-angiotensin regulation of aldosterone production
GO:0002033 angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure
GO:0002035 brain renin-angiotensin system
GO:0006883 cellular sodium ion homeostasis
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007199 G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger
GO:0007263 nitric oxide mediated signal transduction
GO:0007420 brain development
GO:0008217 regulation of blood pressure
GO:0008284 positive regulation of cell proliferation
GO:0010243 response to organonitrogen compound
GO:0010459 negative regulation of heart rate
GO:0010700 negative regulation of norepinephrine secretion
GO:0021695 cerebellar cortex development
GO:0030308 negative regulation of cell growth
GO:0032304 negative regulation of icosanoid secretion
GO:0032516 positive regulation of phosphoprotein phosphatase activity
GO:0035556 intracellular signal transduction
GO:0035566 regulation of metanephros size
GO:0035640 exploration behavior
GO:0035815 positive regulation of renal sodium excretion
GO:0035932 aldosterone secretion
GO:0038166 angiotensin-activated signaling pathway
GO:0042306 regulation of protein import into nucleus
GO:0042311 vasodilation
GO:0042416 dopamine biosynthetic process
GO:0042981 regulation of apoptotic process
GO:0043537 negative regulation of blood vessel endothelial cell migration
GO:0045429 positive regulation of nitric oxide biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048147 negative regulation of fibroblast proliferation
GO:0050715 positive regulation of cytokine secretion
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051387 negative regulation of neurotrophin TRK receptor signaling pathway
GO:0060993 kidney morphogenesis
GO:0061049 cell growth involved in cardiac muscle cell development
GO:0071549 cellular response to dexamethasone stimulus
GO:0072300 positive regulation of metanephric glomerulus development
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis
GO:0097746 regulation of blood vessel diameter
GO:1900116 extracellular negative regulation of signal transduction
GO:2001238 positive regulation of extrinsic apoptotic signaling pathway

Cellular Component:
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF211444 - JP 2014500723-A/18947: Polycomb-Associated Non-Coding RNAs.
AK313927 - Homo sapiens cDNA, FLJ94566, Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.
X87723 - H.sapiens mRNA for angiotensin ii type receptor, mRNA, 5' untranslated region.
LF214067 - JP 2014500723-A/21570: Polycomb-Associated Non-Coding RNAs.
U16957 - Human angiotensin II type 2 receptor mRNA, complete cds.
BC095504 - Homo sapiens angiotensin II receptor, type 2, mRNA (cDNA clone MGC:111714 IMAGE:6971944), complete cds.
LF379648 - JP 2014500723-A/187151: Polycomb-Associated Non-Coding RNAs.
AB463410 - Synthetic construct DNA, clone: pF1KB7158, Homo sapiens AGTR2 gene for angiotensin II receptor, type 2, without stop codon, in Flexi system.
CR541969 - Homo sapiens full open reading frame cDNA clone RZPDo834H1034D for gene AGTR2, angiotensin II receptor, type 2; complete cds, without stopcodon.
LF379649 - JP 2014500723-A/187152: Polycomb-Associated Non-Coding RNAs.
LF379650 - JP 2014500723-A/187153: Polycomb-Associated Non-Coding RNAs.
LF379651 - JP 2014500723-A/187154: Polycomb-Associated Non-Coding RNAs.
LF379652 - JP 2014500723-A/187155: Polycomb-Associated Non-Coding RNAs.
LF379653 - JP 2014500723-A/187156: Polycomb-Associated Non-Coding RNAs.
JD493463 - Sequence 474487 from Patent EP1572962.
LF379654 - JP 2014500723-A/187157: Polycomb-Associated Non-Coding RNAs.
LF379655 - JP 2014500723-A/187158: Polycomb-Associated Non-Coding RNAs.
JD084689 - Sequence 65713 from Patent EP1572962.
JD063596 - Sequence 44620 from Patent EP1572962.
JD350397 - Sequence 331421 from Patent EP1572962.
MA449644 - JP 2018138019-A/21570: Polycomb-Associated Non-Coding RNAs.
MA447021 - JP 2018138019-A/18947: Polycomb-Associated Non-Coding RNAs.
MA615225 - JP 2018138019-A/187151: Polycomb-Associated Non-Coding RNAs.
MA615226 - JP 2018138019-A/187152: Polycomb-Associated Non-Coding RNAs.
MA615227 - JP 2018138019-A/187153: Polycomb-Associated Non-Coding RNAs.
MA615228 - JP 2018138019-A/187154: Polycomb-Associated Non-Coding RNAs.
MA615229 - JP 2018138019-A/187155: Polycomb-Associated Non-Coding RNAs.
MA615230 - JP 2018138019-A/187156: Polycomb-Associated Non-Coding RNAs.
MA615231 - JP 2018138019-A/187157: Polycomb-Associated Non-Coding RNAs.
MA615232 - JP 2018138019-A/187158: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction
hsa04614 - Renin-angiotensin system

BioCarta from NCI Cancer Genome Anatomy Project
h_biopeptidesPathway - Bioactive Peptide Induced Signaling Pathway
h_cardiacegfPathway - Role of EGF Receptor Transactivation by GPCRs in Cardiac Hypertrophy
h_ace2Pathway - Angiotensin-converting enzyme 2 regulates heart function

Reactome (by CSHL, EBI, and GO)

Protein P50052 (Reactome details) participates in the following event(s):

R-HSA-374173 Angiotensin II binds to angiotensin II receptor (types 1 and 2)
R-HSA-749454 The Ligand:GPCR:Gi complex dissociates
R-HSA-749456 Liganded Gi-activating GPCRs bind inactive heterotrimeric G-protein Gi
R-HSA-380073 Liganded Gi-activating GPCR acts as a GEF for Gi
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418594 G alpha (i) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AGTR2_HUMAN, B2R9V1, NM_000686, NP_000677, P50052, Q13016, Q6FGY7
UCSC ID: uc004eqh.4
RefSeq Accession: NM_000686
Protein: P50052 (aka AGTR2_HUMAN)
CCDS: CCDS14569.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000686.4
exon count: 3CDS single in 3' UTR: no RNA size: 2906
ORF size: 1092CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2361.50frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.