EDN3 (Endothelin 3)
Key regulator of neural crest cell development and melanocyte differentiation
Gene Information Card
| Symbol | EDN3 |
|---|---|
| Full Name | Endothelin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.32 |
| NCBI Gene ID | 1908 ncbi.nlm.nih.gov/gene/1908 |
| Ensembl ID | ENSG00000124205 |
| UniProt ID | P14138 |
| OMIM ID | 131242 |
| HGNC ID | 3178 |
| Aliases | ET3, PPET3, endothelin-3 |
Description
EDN3 encodes endothelin 3, a peptide hormone that binds to endothelin receptor type B (EDNRB). It is critical for the development of neural crest-derived cell lineages, including melanocytes and enteric neurons. Mutations in EDN3 cause Waardenburg syndrome type IV and Hirschsprung disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Waardenburg syndrome type IV (WS4) | Loss-of-function mutations impair EDN3-EDNRB signaling, disrupting neural crest cell migration and differentiation. | OMIM #277580; ClinVar |
| Hirschsprung disease (HSCR) | Defective EDN3 leads to incomplete colonization of the hindgut by enteric neural crest cells. | OMIM #142623; ClinVar |
| Waardenburg syndrome type II (WS2) | Rare EDN3 variants contribute to pigmentary abnormalities and hearing loss. | OMIM #193510; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.6 | Low |
| Small intestine | 0.3 | Low |
| Kidney | 0.2 | Low |
| Lung | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanocytes | 0.8 | Primary culture |
| HEK293 | 0.1 | Transfected |
| SH-SY5Y | 0.2 | Neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, no protein |
| c.2T>C (p.Met1Thr) | Missense | <0.01% | Impaired translation initiation |
| c.3G>A (p.Met1Ile) | Missense | <0.01% | Reduced protein expression |
Mutation functional classification
Loss of Function (LOF)
Most EDN3 mutations are loss-of-function, reducing or abolishing endothelin 3 activity, leading to neural crest defects.
Gain of Function (GOF)
Not reported for EDN3.
Dominant Negative (DN)
Not reported for EDN3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endothelin signaling pathway (Reactome: R-HSA-418594)
• Neural crest differentiation (KEGG: hsa04360)
Protein Summary
Endothelin 3 is a 21-amino acid peptide processed from a larger precursor (preproendothelin-3). It acts as a ligand for the endothelin B receptor (EDNRB), activating intracellular calcium signaling. The protein is essential for melanocyte and enteric neuron development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDN3 Knockout HEK293 Cell Line | EDJ-KQ1779 | Human | 1908 | Details Get a Quote |
| EDN3 Knockout HeLa Cell Line | EDJ-KQ53137 | Human | 1908 | Details Get a Quote |
| EDN3 Knockout A-549 Cell Line | EDJ-KQ61610 | Human | 1908 | Details Get a Quote |
| EDN3 Knockout HCT 116 Cell Line | EDJ-KQ70098 | Human | 1908 | Details Get a Quote |
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