AGTR2
angiotensin II receptor type 2, the group of Angiotensin receptors
Basic information
Region (hg38): X:116170744-116174974
Links
Phenotypes
GenCC
Source:
- non-syndromic X-linked intellectual disability (Supportive), mode of inheritance: XL
- X-linked complex neurodevelopmental disorder (Disputed Evidence), mode of inheritance: XL
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Mental retardation, X-linked 88 | XL | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 12089445; 12746399; 14598163; 14722754; 16463274; 22269148; 23871722 |
| The evidence of variants as related to disease causation has been questioned due to subsequent population-based studies |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AGTR2 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | |||||
| missense | 28 | 34 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 3 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 31 | 6 | 4 |
Variants in AGTR2
This is a list of pathogenic ClinVar variants found in the AGTR2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-116172341-G-A | Uncertain significance (Jan 27, 2017) | |||
| X-116172342-G-T | not specified • Intellectual disability, X-linked 88 | Benign/Likely benign (Dec 11, 2015) | ||
| X-116172356-T-C | not specified | Uncertain significance (Aug 26, 2022) | ||
| X-116172366-A-G | not specified | Uncertain significance (Jan 23, 2024) | ||
| X-116172370-G-C | not specified | Uncertain significance (Feb 12, 2024) | ||
| X-116172389-C-G | not specified | Uncertain significance (Jan 26, 2022) | ||
| X-116172401-G-A | Uncertain significance (Apr 04, 2013) | |||
| X-116172425-A-G | not specified | Likely benign (Jun 06, 2023) | ||
| X-116172434-T-G | not specified | Uncertain significance (Mar 26, 2024) | ||
| X-116172437-A-T | Uncertain significance (Aug 08, 2013) | |||
| X-116172450-T-C | not specified | Uncertain significance (Jan 03, 2024) | ||
| X-116172491-T-A | not specified | Conflicting classifications of pathogenicity (Nov 17, 2022) | ||
| X-116172511-G-T | Uncertain significance (Apr 22, 2014) | |||
| X-116172516-C-G | Uncertain significance (Jul 28, 2022) | |||
| X-116172578-T-C | Uncertain significance (Oct 14, 2016) | |||
| X-116172594-C-G | not specified | Uncertain significance (Aug 12, 2021) | ||
| X-116172658-G-A | AGTR2-related disorder | Benign (Apr 04, 2018) | ||
| X-116172674-AT-A | not specified • AGTR2-related disorder | Likely benign (Jun 01, 2016) | ||
| X-116172674-A-AT | Uncertain significance (May 06, 2020) | |||
| X-116172682-T-TA | Uncertain significance (Aug 30, 2021) | |||
| X-116172691-C-A | Uncertain significance (Feb 13, 2022) | |||
| X-116172720-T-A | not specified | Uncertain significance (Aug 18, 2014) | ||
| X-116172723-A-G | Uncertain significance (Aug 14, 2017) | |||
| X-116172778-T-C | not specified | Benign (Jul 31, 2018) | ||
| X-116172786-G-T | AGTR2-related disorder | Uncertain significance (Dec 18, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AGTR2 | protein_coding | protein_coding | ENST00000371906 | 1 | 4251 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00823 | 0.806 | 125444 | 72 | 138 | 125654 | 0.000836 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0723 | 139 | 137 | 1.02 | 0.0000101 | 2386 |
| Missense in Polyphen | 50 | 42.99 | 1.163 | 826 | ||
| Synonymous | -0.287 | 52 | 49.4 | 1.05 | 0.00000371 | 722 |
| Loss of Function | 1.03 | 4 | 6.93 | 0.577 | 4.96e-7 | 129 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000861 | 0.000759 |
| Ashkenazi Jewish | 0.000134 | 0.0000992 |
| East Asian | 0.00325 | 0.00245 |
| Finnish | 0.000125 | 0.0000924 |
| European (Non-Finnish) | 0.00166 | 0.00119 |
| Middle Eastern | 0.00325 | 0.00245 |
| South Asian | 0.000472 | 0.000294 |
| Other | 0.000443 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for angiotensin II. Cooperates with MTUS1 to inhibit ERK2 activation and cell proliferation. {ECO:0000269|PubMed:15123706}.;
- Pathway
- Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Renin-angiotensin system - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);ACE Inhibitor Pathway, Pharmacodynamics;Peptide GPCRs;GPCRs, Class A Rhodopsin-like;ACE Inhibitor Pathway;Signaling by GPCR;Signal Transduction;bioactive peptide induced signaling pathway;role of egf receptor transactivation by gpcrs in cardiac hypertrophy;ion channels and their functional role in vascular endothelium;activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor;chrebp regulation by carbohydrates and camp;role of -arrestins in the activation and targeting of map kinases;activation of camp-dependent protein kinase pka;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);roles of arrestin dependent recruitment of src kinases in gpcr signaling;GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;-arrestins in gpcr desensitization;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.425
Intolerance Scores
- loftool
- 0.659
- rvis_EVS
- 0.31
- rvis_percentile_EVS
- 72.23
Haploinsufficiency Scores
- pHI
- 0.648
- hipred
- N
- hipred_score
- 0.432
- ghis
- 0.401
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.659
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Agtr2
- Phenotype
- adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); muscle phenotype; digestive/alimentary phenotype; neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype;
Gene ontology
- Biological process
- blood vessel remodeling;regulation of systemic arterial blood pressure by circulatory renin-angiotensin;renin-angiotensin regulation of aldosterone production;angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure;brain renin-angiotensin system;cellular sodium ion homeostasis;inflammatory response;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger;nitric oxide mediated signal transduction;brain development;regulation of blood pressure;positive regulation of cell population proliferation;negative regulation of heart rate;negative regulation of norepinephrine secretion;cerebellar cortex development;negative regulation of cell growth;negative regulation of icosanoid secretion;positive regulation of phosphoprotein phosphatase activity;intracellular signal transduction;regulation of metanephros size;exploration behavior;positive regulation of renal sodium excretion;aldosterone secretion;angiotensin-activated signaling pathway;regulation of protein import into nucleus;vasodilation;dopamine biosynthetic process;negative regulation of blood vessel endothelial cell migration;positive regulation of nitric oxide biosynthetic process;positive regulation of transcription, DNA-templated;negative regulation of fibroblast proliferation;positive regulation of cytokine secretion;positive regulation of nitric-oxide synthase activity;negative regulation of neurotrophin TRK receptor signaling pathway;cell growth involved in cardiac muscle cell development;cellular response to dexamethasone stimulus;positive regulation of metanephric glomerulus development;positive regulation of branching involved in ureteric bud morphogenesis;extracellular negative regulation of signal transduction;positive regulation of extrinsic apoptotic signaling pathway
- Cellular component
- extracellular region;plasma membrane;integral component of plasma membrane;perinuclear region of cytoplasm
- Molecular function
- angiotensin type II receptor activity;protein binding;transcription factor binding;peptide hormone binding;receptor antagonist activity