EDNRB Gene: Endothelin Receptor Type B – Function, Disease Associations, and Expression
A comprehensive biomedical overview of the EDNRB gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | EDNRB |
|---|---|
| Full Name | Endothelin receptor type B |
| Gene Type | protein-coding |
| Chromosomal Location | 13q22.3 |
| NCBI Gene ID | 1910 ncbi.nlm.nih.gov/gene/1910 |
| Ensembl ID | ENSG00000136160 |
| UniProt ID | P24530 |
| OMIM ID | 131244 |
| HGNC ID | 3180 |
| Aliases | ETB, ET-B, ETBR, HSCR2, ABCDS |
Description
The EDNRB gene encodes endothelin receptor type B, a G protein-coupled receptor that binds endothelin peptides. It plays critical roles in neural crest cell development, including enteric neuron and melanocyte differentiation. Mutations in EDNRB are associated with Hirschsprung disease and Waardenburg syndrome type 4A, and altered expression is linked to various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung disease | Loss-of-function mutations impair neural crest cell migration in the gut, leading to aganglionosis. | ClinVar, OMIM |
| Waardenburg syndrome type 4A | Mutations disrupt melanocyte and enteric neuron development, causing pigmentary and hearing defects. | OMIM, ClinVar |
| Melanoma | EDNRB overexpression or signaling contributes to tumor progression and metastasis. | COSMIC, PubMed |
| Colorectal cancer | Altered EDNRB expression may influence tumor growth and invasion. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.3 | Medium |
| Gastrointestinal tract | 8.5 | Low |
| Brain | 5.2 | Low |
| Lung | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A-375 (melanoma) | 25.6 | High expression |
| MCF7 (breast cancer) | 3.2 | Low expression |
| HCT116 (colorectal) | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1187G>A (p.Gly396Asp) | Missense | Rare | Impairs receptor signaling |
| c.243delC (p.Pro82LeufsTer19) | Frameshift | Rare | Loss of function |
| c.830T>C (p.Leu277Pro) | Missense | Rare | Dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to haploinsufficiency or non-functional receptors, causing Hirschsprung disease.
Gain of Function (GOF)
Gain-of-function mutations are rare; some somatic mutations in cancer may enhance signaling, but evidence is limited.
Dominant Negative (DN)
Certain missense mutations can exert dominant-negative effects by forming non-functional dimers with wild-type receptors.
View complete mutation data：
Gene Ontology (GO)
| • endothelin receptor activity | • G protein-coupled receptor activity |
| • signal transduction | • cell differentiation |
| • neural crest cell migration |
Pathways
• Endothelin signaling pathway
• G alpha q signaling
• MAPK signaling
• PI3K-Akt signaling
Protein Summary
Endothelin receptor type B (ETB) is a 442-amino acid G protein-coupled receptor with seven transmembrane domains. It mediates endothelin-1-induced vasoconstriction and plays a role in cell proliferation and differentiation. ETB is critical for the development of enteric neurons and melanocytes. Dysregulation is implicated in genetic disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDNRB Knockout HEK293 Cell Line | EDJ-KQ937 | Human | 1910 | Details Get a Quote |
| EDNRB Knockout HeLa Cell Line | EDJ-KQ53139 | Human | 1910 | Details Get a Quote |
| EDNRB Knockout A-549 Cell Line | EDJ-KQ61612 | Human | 1910 | Details Get a Quote |
| EDNRB Knockout HCT 116 Cell Line | EDJ-KQ70099 | Human | 1910 | Details Get a Quote |
