EDNRA (Endothelin Receptor Type A)
A G protein-coupled receptor for endothelin-1 involved in vasoconstriction, cell proliferation, and cardiovascular disease.
Gene Information Card
| Symbol | EDNRA |
|---|---|
| Full Name | Endothelin receptor type A |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.22 |
| NCBI Gene ID | 1909 ncbi.nlm.nih.gov/gene/1909 |
| Ensembl ID | ENSG00000151617 |
| UniProt ID | P25101 |
| OMIM ID | 131243 |
| HGNC ID | 3179 |
| Aliases | ET-A, ETAR, ETA-R, hET-AR |
Description
EDNRA encodes the endothelin receptor type A, a G protein-coupled receptor that binds endothelin-1 (ET-1) with high affinity. Activation of this receptor mediates vasoconstriction, cell proliferation, and hormone secretion. It is expressed in vascular smooth muscle, heart, lung, and kidney, and plays a key role in cardiovascular homeostasis and pathophysiology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary arterial hypertension | Gain-of-function mutations or overexpression of EDNRA lead to excessive vasoconstriction and vascular remodeling. | ClinVar, OMIM |
| Hypertension | Increased EDNRA signaling contributes to elevated blood pressure via sustained vasoconstriction. | NCBI Gene, OMIM |
| Migraine (familial hemiplegic migraine type 1) | Missense variants in EDNRA have been associated with altered cerebrovascular reactivity. | ClinVar, OMIM |
| Coronary artery disease | Polymorphisms in EDNRA are linked to increased risk of atherosclerosis and myocardial infarction. | NCBI Gene, GWAS catalog |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Kidney | 8.3 | Medium |
| Artery | 15.2 | High |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 14.7 | Primary cells |
| HUVEC (umbilical vein endothelial) | 6.2 | Low expression |
| HEK293 | 3.5 | Transfected lines show high expression |
| A549 (lung carcinoma) | 8.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.122G>A (p.Arg41His) | Missense | Rare | Altered ligand binding; associated with migraine |
| c.136C>T (p.Pro46Ser) | Missense | <0.01% | Reduced receptor activity; possible protective effect |
| c.1066G>A (p.Glu356Lys) | Missense | 0.02% | Gain-of-function; linked to pulmonary hypertension |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Pro46Ser) reduce receptor signaling and may protect against vasoconstrictive disorders.
Gain of Function (GOF)
Variants such as p.Glu356Lys enhance ET-1 binding or downstream signaling, contributing to hypertension and pulmonary arterial hypertension.
Dominant Negative (DN)
No dominant-negative mutations have been reported for EDNRA.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity | • endothelin receptor activity |
| • phospholipase C-activating G protein-coupled receptor signaling pathway | • vasoconstriction |
| • positive regulation of cell proliferation | • calcium-mediated signaling |
Pathways
• Endothelin signaling pathway
• Calcium signaling pathway
• Vascular smooth muscle contraction
• cGMP-PKG signaling pathway
Protein Summary
Endothelin receptor type A (ET-A) is a 427-amino acid G protein-coupled receptor with seven transmembrane domains. Upon binding endothelin-1, it activates phospholipase C, increasing intracellular calcium and leading to smooth muscle contraction. It is a therapeutic target for pulmonary arterial hypertension (e.g., ambrisentan, macitentan).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDNRA Knockout HEK293 Cell Line | EDJ-KQ1586 | Human | 1909 | Details Get a Quote |
| EDNRA Knockout HCT 116 Cell Line | EDJ-KQ21271 | Human | 1909 | Details Get a Quote |
| EDNRA Knockout HeLa Cell Line | EDJ-KQ53138 | Human | 1909 | Details Get a Quote |
| EDNRA Knockout A-549 Cell Line | EDJ-KQ61611 | Human | 1909 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
