AGTR1

angiotensin II receptor type 1, the group of Angiotensin receptors

Basic information

Region (hg38): 3:148697783-148743008

Previous symbols: [ "AGTR1B" ]

Links

ENSG00000144891 ∙ NCBI:185 ∙ OMIM:106165 ∙ HGNC:336 ∙ Uniprot:P30556 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• essential hypertension, genetic (No Known Disease Relationship), mode of inheritance: Unknown
• renal tubular dysgenesis of genetic origin (Moderate), mode of inheritance: AR
• renal tubular dysgenesis of genetic origin (Supportive), mode of inheritance: AR
• renal tubular dysgenesis of genetic origin (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Renal tubular dysgenesis	AR	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	Renal	8021009; 16116425; 17668390

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AGTR1 gene.

• not provided (58 variants)
• Renal tubular dysgenesis (55 variants)
• Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin (8 variants)
• Inborn genetic diseases (8 variants)
• AGTR1-related condition (3 variants)
• Renal tubular dysgenesis of genetic origin (3 variants)
• Essential hypertension, genetic (2 variants)
• not specified (2 variants)
• Hypertension, essential, susceptibility to (1 variants)
• Renal dysplasia, cystic, susceptibility to;Anhydramnios (1 variants)
• Renal tubular dysgenesis;Essential hypertension (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AGTR1 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			1	11	3	15
missense	1		39	2	1	43
nonsense		1	1			2
start loss						0
frameshift	1	4	1			6
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding			24	2	15	41
Total	2	5	66	15	19

Highest pathogenic variant AF is 0.0000131

Variants in AGTR1

This is a list of pathogenic ClinVar variants found in the AGTR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-148697873-T-G		Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)
3-148697883-G-T		Renal tubular dysgenesis	Benign (Jan 13, 2018)
3-148697906-C-G		Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)
3-148697928-C-G		Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)
3-148698020-G-T		Renal tubular dysgenesis	Likely benign (Jan 13, 2018)
3-148698032-T-C		Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)
3-148698075-C-A		Renal tubular dysgenesis	Benign (Jan 12, 2018)
3-148707960-A-G		Renal tubular dysgenesis	Uncertain significance (Jan 13, 2018)
3-148708034-G-A		Renal tubular dysgenesis	Uncertain significance (Mar 30, 2018)
3-148729969-G-A			Benign (Jun 18, 2021)
3-148730208-A-G			Uncertain significance (Mar 04, 2022)
3-148730219-G-C			Uncertain significance (Oct 26, 2022)
3-148739686-T-C			Benign (Jun 18, 2021)
3-148739855-T-C			Benign (Jun 18, 2021)
3-148739955-C-T		AGTR1-related disorder	Likely benign (Oct 28, 2019)
3-148740058-T-C			Benign (Jun 18, 2021)
3-148740123-T-C			Benign (Jun 18, 2021)
3-148740676-T-A			Benign (Jun 18, 2021)
3-148740995-T-G			Uncertain significance (Aug 05, 2022)
3-148741019-C-T		AGTR1-related disorder	Uncertain significance (Nov 03, 2022)
3-148741020-G-A		Renal tubular dysgenesis	Conflicting classifications of pathogenicity (Oct 22, 2023)
3-148741068-TA-T		AGTR1-related disorder	Uncertain significance (Jan 07, 2023)
3-148741144-A-AT		Renal tubular dysgenesis	Likely pathogenic (Mar 05, 2021)
3-148741148-T-C		Renal tubular dysgenesis • Essential hypertension, genetic;Renal tubular dysgenesis of genetic origin	Uncertain significance (Jul 26, 2021)
3-148741155-G-A			Likely benign (Jun 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AGTR1	protein_coding	protein_coding	ENST00000542281	1	45225

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000532	0.712	125705	0	36	125741	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.435	179	196	0.913	0.0000100	2360
Missense in Polyphen		62	72.314	0.85738		900
Synonymous	-0.0697	72	71.3	1.01	0.00000359	719
Loss of Function	0.863	6	8.76	0.685	4.98e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000566	0.000565
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000970	0.0000967
Middle Eastern	0.0000546	0.0000544
South Asian	0.000229	0.000229
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for angiotensin II. Mediates its action by association with G proteins that activate a phosphatidylinositol- calcium second messenger system.
• Disease: DISEASE: Renal tubular dysgenesis (RTD) [MIM:267430]: Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). {ECO:0000269|PubMed:16116425}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Cortisol synthesis and secretion - Homo sapiens (human);Aldosterone synthesis and secretion - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Renin-angiotensin system - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Renin secretion - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Losartan Pathway, Pharmacokinetics;ACE Inhibitor Pathway, Pharmacodynamics;Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Temocapril Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Olmesartan Action Pathway;Losartan Action Pathway;Irbesartan Action Pathway;Forasartan Action Pathway;Valsartan Action Pathway;Telmisartan Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Muscle/Heart Contraction;Angiotensin Metabolism;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Bupranolol Action Pathway;Spirapril Action Pathway;Trandolapril Action Pathway;Ramipril Action Pathway;Rescinnamine Action Pathway;Perindopril Action Pathway;Quinapril Action Pathway;Lisinopril Action Pathway;Moexipril Action Pathway;Nebivolol Action Pathway;Candesartan Action Pathway;Eprosartan Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Fosinopril Action Pathway;Enalapril Action Pathway;Benazepril Action Pathway;Cilazapril Action Pathway;Captopril Action Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;Allograft Rejection;Peptide GPCRs;Hypothesized Pathways in Pathogenesis of Cardiovascular Disease;GPCRs, Class A Rhodopsin-like;ACE Inhibitor Pathway;Signaling by GPCR;Signal Transduction;Vesicle-mediated transport;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;Membrane Trafficking;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Clathrin-mediated endocytosis;Cargo recognition for clathrin-mediated endocytosis;Arf6 trafficking events;Angiopoietin receptor Tie2-mediated signaling;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling;Arf6 signaling events (Consensus)

Recessive Scores

• pRec: 0.823

Intolerance Scores

• loftool: 0.821
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• pHI: 0.168
• hipred: Y
• hipred_score: 0.733
• ghis: 0.501

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.636

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Agtr1b
• Phenotype: growth/size/body region phenotype; immune system phenotype; homeostasis/metabolism phenotype; 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); 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); renal/urinary system phenotype

Gene ontology

• Biological process: regulation of cell growth;kidney development;renin-angiotensin regulation of aldosterone production;regulation of blood vessel diameter by renin-angiotensin;regulation of systemic arterial blood pressure by renin-angiotensin;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;Rho protein signal transduction;positive regulation of macrophage derived foam cell differentiation;positive regulation of cholesterol esterification;regulation of vasoconstriction;calcium-mediated signaling;positive regulation of cellular protein metabolic process;positive regulation of phospholipase A2 activity;positive regulation of NAD(P)H oxidase activity;low-density lipoprotein particle remodeling;regulation of renal sodium excretion;angiotensin-activated signaling pathway;regulation of cell population proliferation;regulation of inflammatory response;positive regulation of inflammatory response;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;cell chemotaxis;phospholipase C-activating angiotensin-activated signaling pathway;regulation of blood vessel diameter;positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;positive regulation of reactive oxygen species metabolic process
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane
• Molecular function: angiotensin type I receptor activity;angiotensin type II receptor activity;protein binding;bradykinin receptor binding;protein heterodimerization activity