EDN1 endothelin 1
Gene ID: 1906, updated on 18-Sep-2024Gene type: protein coding
Also known as: ET1; QME; PPET1; ARCND3; HDLCQ7
- See all available tests in GTR for this gene
- Go to complete Gene record for EDN1
- Go to Variation Viewer for EDN1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Auriculocondylar syndrome 3 | See labs |
| Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. GeneReviews: Not available | |
| Question mark ears, isolated | See labs |
Genomic context
- Location:
- 6p24.1
- Sequence:
- Chromosome: 6; NC_000006.12 (12230516..12297194)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EDN1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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