Basic information
- Full name
- endothelin 3
- Ensembl
- ENSG00000124205.18
- Summary
- The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
- Annotation
- Ligand
Protein product
- ENST00000337938.7 Primary ENSP00000337128.2 (0 phosphosite)
- ENST00000371028.6
- ENST00000395654.3
- ENST00000311585.11
- ENST00000644821.1
- ENST00000371025.7
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of EDN3 with phenotypes and mutations
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Cis-association
Associations between omics data of EDN3
Trans-association
Associations of the protein abundance of EDN3 and the protein abundance of other genes
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.