EDNRA Gene Summary [Human]
This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | EDNRA |
| Official Name | endothelin receptor type A [Source:HGNC Symbol;Acc:HGNC:3179] |
| Ensembl ID | ENSG00000151617 |
| Bio databases IDs | |
| Aliases | endothelin receptor type A |
| Synonyms | AEA001, Endor, endothelin receptor type A, Et1 receptor, ET-A, ET-AR, ETA receptor, ETRA, Gpcr10, hET-AR, LOC100366209, MFDA, Mhdaaea1, RGD1559432 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EDNRA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- Cholecystokinin A receptor, N-terminal
- transmembrane domain
- endothelin receptor
- 7 transmembrane receptor (rhodopsin family)
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- transmembrane receptor
Pathways
Biological processes and signaling networks where the EDNRA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- corrected congenital pulmonary arterial hypertension
- WHO functional class II-IV idiopathic pulmonary arterial hypertension
- atrial septal defect
- primary pulmonary hypertension
- idiopathic scoliosis
- pulmonary hypertension
- metastasis
- chronic thromboembolic pulmonary hypertension
- heritable pulmonary artery hypertension
role in cell
- expression in
- production in
- apoptosis
- accumulation
- growth
- proliferation
- migration
- chemotaxis
- formation
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cell surface
- cellular membrane
- nuclear envelope
- transverse tubules
- membrane rafts
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EDNRA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- norepinephrine metabolic process
- glomerular filtration
- cardiac neural crest cell migration involved in outflow tract morphogenesis
- face development
- cellular response to follicle-stimulating hormone stimulus
- sympathetic nervous system development
- cellular response to luteinizing hormone stimulus
- enteric nervous system development
- response to hypoxia
- cardiac chamber formation
- in utero embryonic development
- protein kinase A signaling cascade
- protein transmembrane transport
- neural crest cell fate commitment
- G-protein coupled receptor signaling pathway
- respiratory gaseous exchange
- left ventricular cardiac muscle tissue morphogenesis
- glomerular endothelium development
- regulation of glucose transport
- aorta development
- renal albumin absorption
- positive regulation of cation channel activity
- gene expression
- artery smooth muscle contraction
- neuron remodeling
- cell proliferation
- adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
- axonogenesis involved in innervation
- sodium ion homeostasis
- response to wounding
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- middle ear morphogenesis
- vasoconstriction
- mitotic cell cycle
- mesenchymal cell apoptotic process
- developmental pigmentation
- atrial cardiac muscle tissue development
- patterning of blood vessels
- smooth muscle contraction
- calcium ion transmembrane transport
- canonical Wnt receptor signaling pathway
- heparin metabolic process
- activation of adenylate cyclase activity
- signal transduction
- neuromuscular process
- phospholipase C-activating G-protein coupled receptor signaling pathway
- embryonic heart tube development
- embryonic skeletal system development
- regulation of blood pressure
- establishment of endothelial barrier
- vascular smooth muscle cell development
- mitochondrion organization
- elevation of cytosolic calcium ion concentration
- cellular calcium ion homeostasis
- renal sodium ion absorption
- noradrenergic neuron differentiation
- regulation of heart rate
- blood vessel remodeling
- thyroid gland development
- response to amphetamine
- axon extension
- glomerular visceral epithelial cell differentiation
- cellular response to oxidative stress
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol phospholipase C activity
- protein binding
- endothelin receptor activity