EDN2 (Endothelin 2)
Gene encoding a potent vasoconstrictor peptide involved in vascular homeostasis and disease
Gene Information Card
| Symbol | EDN2 |
|---|---|
| Full Name | Endothelin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 1907 ncbi.nlm.nih.gov/gene/1907 |
| Ensembl ID | ENSG00000127129 |
| UniProt ID | P20800 |
| OMIM ID | 131241 |
| HGNC ID | 3177 |
| Aliases | ET-2, PPET2, preproendothelin-2 |
Description
EDN2 encodes endothelin 2 (ET-2), a member of the endothelin family of potent vasoactive peptides. ET-2 is synthesized as a preproprotein that is cleaved to form a mature 21-amino acid peptide. It acts primarily through endothelin receptors ETA and ETB, mediating vasoconstriction, cell proliferation, and hormone secretion. EDN2 is expressed in various tissues including the gastrointestinal tract, kidney, lung, and placenta, and is implicated in vascular homeostasis, hypertension, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary Arterial Hypertension | ET-2 overexpression contributes to pulmonary vasoconstriction and vascular remodeling via ETA receptor activation | PMID: 15965978; ClinVar |
| Hypertension | Elevated EDN2 expression linked to increased vasoconstrictor tone and blood pressure regulation | PMID: 10618347; OMIM |
| Ovarian Cancer | EDN2 promotes tumor cell proliferation and angiogenesis through autocrine/paracrine signaling | PMID: 17909063; COSMIC |
| Colorectal Cancer | ET-2 overexpression associated with tumor growth and metastasis via MAPK pathway activation | PMID: 19137030; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Placenta | 15.1 | High |
| Small Intestine | 9.7 | Medium |
| Colon | 7.2 | Medium |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 6.8 | Moderate expression |
| A549 (lung cancer) | 4.2 | Low expression |
| HeLa (cervical cancer) | 2.5 | Very low expression |
| MCF7 (breast cancer) | 1.9 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.98C>T (p.Pro33Leu) | missense | <0.01% | Rare variant; no known disease association |
| c.199G>A (p.Gly67Arg) | missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in EDN2.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in tumors suggests potential oncogenic role.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endothelin signaling pathway (Reactome: R-HSA-418594)
• VEGF signaling pathway (KEGG: hsa04370)
• MAPK signaling pathway (KEGG: hsa04010)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
Endothelin 2 (ET-2) is a 21-amino acid peptide derived from a 178-residue preproprotein. It is a potent vasoconstrictor and mitogen, acting via G-protein-coupled endothelin receptors (ETA and ETB). ET-2 is involved in vascular tone regulation, cell growth, and hormone secretion. Its expression is elevated in several cancers and cardiovascular diseases, making it a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDN2 Knockout HEK293 Cell Line | EDJ-KQ1778 | Human | 1907 | Details Get a Quote |
| EDN2 Knockout A-549 Cell Line | EDJ-KQ21646 | Human | 1907 | Details Get a Quote |
| EDN2 Knockout HeLa Cell Line | EDJ-KQ21647 | Human | 1907 | Details Get a Quote |
| EDN2 Knockout HCT 116 Cell Line | EDJ-KQ70097 | Human | 1907 | Details Get a Quote |
