AGTR1

Chr 3MultiAR

angiotensin II receptor type 1

Also known as: AG2S, AGTR1B, AT1, AT1AR, AT1B, AT1BR, AT1R, AT2R1

NCBI Gene: 185 ENSG00000144891 UniProt: P30556 OMIM: 106165

Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Hypertension, essential}MIM #145500

Multi

Renal tubular dysgenesisMIM #267430

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Renal tubular dysgenesis; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.35

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.35LOEUF

pLI 0.001

Z-score 0.86

OE 0.69 (0.37–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.43Z-score

OE missense 0.91 (0.81–1.03)

179 obs / 196.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.69 (0.37–1.35)

0≤0.351.4

Missense OE?0.91 (0.81–1.03)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 6 / 8.8Missense obs/exp: 179 / 196.1Syn Z: -0.07

Background carrier burden — how many people carry a rare variant somewhere in AGTR1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

409 rare PASS variants

Rare truncating (LoF)

1 in 2,500

60 rare PASS variants

Rare synonymous (reference)

1 in 320

165 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for AGTR1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 2,500
South Asian	~43k	1 in 150	1 in 1,700
Remaining (unassigned)	~30k	1 in 120	1 in 5,000
European (Finnish)	~27k	1 in 250	≈ 1 in 26,000
Admixed American	~22k	1 in 110	1 in 1,600
African / African American	~21k	1 in 210	1 in 2,900
East Asian	~20k	1 in 140	1 in 1,600
Ashkenazi Jewish	~13k	1 in 370	1 in 1,500
Middle Eastern	~2,884	1 in 88	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓