AGTR2: Angiotensin II Receptor Type 2
A key modulator of the renin-angiotensin system involved in cardiovascular, neurological, and developmental processes.
Gene Information Card
| Symbol | AGTR2 |
|---|---|
| Full Name | Angiotensin II Receptor Type 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq23 |
| NCBI Gene ID | 186 ncbi.nlm.nih.gov/gene/186 |
| Ensembl ID | ENSG00000180772 |
| UniProt ID | P50052 |
| OMIM ID | 300034 |
| HGNC ID | 339 |
| Aliases | AT2, ATGR2, MRX88 |
Description
AGTR2 encodes the angiotensin II receptor type 2 (AT2 receptor), a G protein-coupled receptor that mediates the effects of angiotensin II. It is involved in vasodilation, cell growth inhibition, apoptosis, and neuronal development. AGTR2 is expressed in fetal tissues, brain, heart, and kidney, and plays a counter-regulatory role to the AT1 receptor in the renin-angiotensin system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss of function of AGTR2 may impair neuronal development and synaptic plasticity, contributing to cognitive deficits. | ClinVar, OMIM |
| Hypertension | AGTR2 variants may alter vasodilatory responses, influencing blood pressure regulation. | NCBI Gene, OMIM |
| Cardiovascular disease | Dysregulation of AGTR2 signaling is associated with cardiac hypertrophy and fibrosis. | UniProt, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Heart | 1.8 | Low |
| Kidney | 1.5 | Low |
| Adrenal gland | 1.2 | Low |
| Fetal kidney | 4.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| SH-SY5Y | 2.1 | Neuronal cell line |
| HUVEC | 1.0 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.123C>T | Nonsense | Rare | Premature truncation, loss of function |
| c.456G>A | Missense | Rare | Altered receptor activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce receptor expression or signaling, associated with X-linked intellectual disability.
Gain of Function (GOF)
Not well documented; no confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not reported for AGTR2.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • angiotensin type II receptor activity |
| • vasodilation | • apoptotic process |
| • negative regulation of cell proliferation | • neuron development |
Pathways
• Renin-angiotensin system
• GPCR downstream signaling
• cGMP-PKG signaling pathway
Protein Summary
The AT2 receptor is a 363-amino acid protein with seven transmembrane domains. It signals through G proteins and other pathways to promote vasodilation, inhibit cell growth, and induce apoptosis. It is highly expressed during fetal development and in adult brain, heart, and kidney. AGTR2 is considered a protective receptor in cardiovascular and neurological contexts.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGTR2 Knockout HEK293 Cell Line | EDJ-KQ4028 | Human | 186 | Details Get a Quote |
| AGTR2 Knockout HeLa Cell Line | EDJ-KQ52581 | Human | 186 | Details Get a Quote |
| AGTR2 Knockout A-549 Cell Line | EDJ-KQ61059 | Human | 186 | Details Get a Quote |
| AGTR2 Knockout HCT 116 Cell Line | EDJ-KQ69541 | Human | 186 | Details Get a Quote |
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