Summary of EDN1
The EDN1 gene encodes a protein called endothelin 1 [R].
This protein narrows the blood vessels. This is one of the body’s major mechanisms for increasing blood pressure [R, R, R, R].
Drugs that block endothelin-1 (e.g. Bosentan) can be used to decrease blood pressure. These medications are typically prescribed for people with pulmonary arterial hypertension (PAH, a type of high blood pressure that affects the lungs) [R].
Variants in EDN1 are associated with:
- High blood pressure [R]
- Pulmonary arterial hypertension (PAH) [R]
- Coronary artery disease [R]
- Auriculocondylar syndrome (question mark ears) [R]
- Migraine [R]
- Fibro-muscular dysplasia [R]
- Cervical artery dissection [R]
High levels of endothelin-1 may promote tumor development [R, R]
Protein names
Recommended name:
Endothelin-1Short name:
ET-1Alternative name(s):
Preproendothelin-1PPET1
- RS1040994 (EDN1) ??
- RS11210278 (EDN1) ??
- RS5369 (EDN1) ??
- RS5370 (EDN1) ??
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Top Gene-Substance Interactions
EDN1 Interacts with These Diseases
| Disease | Score |
Substances That Increase EDN1
| Substances | Interaction | Organism | Category |
Substances That Decrease EDN1
| Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Question mark ears, isolatedAuriculocondylar syndrome 3From UniProt: Question mark ears, isolated (QME): An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. [MIM:612798] Auriculocondylar syndrome 3 (ARCND3): A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. [MIM:615706]
From NCBI Gene: This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015] From UniProt: Endothelins are endothelium-derived vasoconstrictor peptides.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.
Gene Pathways:
Molecular Function:
Biological Processes:
- Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
- Prostaglandin Biosynthetic Process
- Branching Involved In Blood Vessel Morphogenesis
- In Utero Embryonic Development
- Histamine Secretion
- Regulation Of Ph
- Regulation Of Systemic Arterial Blood Pressure By Endothelin
- Cell Surface Receptor Signaling Pathway
- G-Protein Coupled Receptor Signaling Pathway
- Positive Regulation Of Cytosolic Calcium Ion Concentration
- Protein Kinase C-Activating G-Protein Coupled Receptor Signaling Pathway
- Cell-Cell Signaling
- Heart Development
- Respiratory Gaseous Exchange
- Body Fluid Secretion
- Positive Regulation Of Cell Proliferation
- Vein Smooth Muscle Contraction
- Dorsal/Ventral Pattern Formation
- Response To Ozone
- Multicellular Organism Aging
- Positive Regulation Of Heart Rate
- Positive Regulation Of Endothelial Cell Migration
- Positive Regulation Of Cardiac Muscle Hypertrophy
- Positive Regulation Of Receptor Biosynthetic Process
- Neural Crest Cell Development
- Phosphatidylinositol 3-Kinase Signaling
- Artery Smooth Muscle Contraction
- Glucose Transport
- Cell Growth
- Regulation Of Vasoconstriction
- Sensory Perception Of Pain
- Calcium-Mediated Signaling
- Peptide Hormone Secretion
- Nitric Oxide Transport
- Negative Regulation Of Blood Coagulation
- Positive Regulation Of Cell Migration
- Negative Regulation Of Camp Biosynthetic Process
- Phospholipase D-Activating G-Protein Coupled Receptor Signaling Pathway
- Negative Regulation Of Cellular Protein Metabolic Process
- Positive Regulation Of Prostaglandin Secretion
- Response To Lipopolysaccharide
- Response To Testosterone
- Negative Regulation Of Smooth Muscle Cell Apoptotic Process
- Response To Prostaglandin F
- Response To Nicotine
- Positive Regulation Of Urine Volume
- Positive Regulation Of Renal Sodium Excretion
- Response To Muscle Stretch
- Epithelial Fluid Transport
- Vasoconstriction
- Protein Kinase C Deactivation
- Middle Ear Morphogenesis
- Positive Regulation Of Odontogenesis
- Superoxide Anion Generation
- Rhythmic Excitation
- Response To Amino Acid
- Positive Regulation Of Map Kinase Activity
- Positive Regulation Of Jun Kinase Activity
- Response To Leptin
- Leukocyte Activation
- Positive Regulation Of Nitric Oxide Biosynthetic Process
- Positive Regulation Of Cell Size
- Positive Regulation Of Mitotic Nuclear Division
- Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
- Positive Regulation Of Smooth Muscle Contraction
- Positive Regulation Of Hormone Secretion
- Negative Regulation Of Hormone Secretion
- Inositol Phosphate-Mediated Signaling
- Positive Regulation Of Smooth Muscle Cell Proliferation
- Positive Regulation Of Sequence-Specific Dna Binding Transcription Factor Activity
- Cartilage Development
- Positive Regulation Of Cytosolic Calcium Ion Concentration Involved In Phospholipase C-Activating G-Protein Coupled Signaling Pathway
- Negative Regulation Of Nitric-Oxide Synthase Biosynthetic Process
- Membrane Depolarization
- Regulation Of Sensory Perception Of Pain
- Maternal Process Involved In Parturition
- Positive Regulation Of Sarcomere Organization
- Positive Regulation Of Prostaglandin-Endoperoxide Synthase Activity
- Positive Regulation Of Cell Growth Involved In Cardiac Muscle Cell Development
- Positive Regulation Of Chemokine-Mediated Signaling Pathway
- Cellular Response To Calcium Ion
- Cellular Response To Interferon-Gamma
- Cellular Response To Interleukin-1
- Cellular Response To Tumor Necrosis Factor
- Cellular Response To Peptide Hormone Stimulus
- Cellular Response To Glucocorticoid Stimulus
- Cellular Response To Mineralocorticoid Stimulus
- Cellular Response To Fatty Acid
- Cellular Response To Hypoxia
- Response To Dexamethasone
- Cellular Response To Transforming Growth Factor Beta Stimulus
- Response To Salt