Seroatlas · Human Serome Atlas

EDN3

Endothelin-3

Also known as: EDN3_HUMAN, ET3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P14138
Gene
EDN3
Ensembl
ENSG00000124205
Chromosome
20
Canonical length
238 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Secretome location
Secreted to blood

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

238 residues, UniProt reviewed canonical sequence.

>P14138|EDN3
     1  MEPGLWLLFG LTVTSAAGFV PCSQSGDAGR RGVSQAPTAA RSEGDCEETV AGPGEETVAG
    61  PGEGTVAPTA LQGPSPGSPG QEQAAEGAPE HHRSRRCTCF TYKDKECVYY CHLDIIWINT
   121  PEQTVPYGLS NYRGSFRGKR SAGPLPGNLQ LSHRPHLRCA CVGRYDKACL HFCTQTLDVS
   181  SNSRTAEKTD KEEEGKVEVK DQQSKQALDL HHPKLMPGSG LALAPSTCPR CLFQEGAP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EDN3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.65
Highest tissue expression
102 nTPM

Expression across tissuesHPA

Tissue

  • vagina: 102 nTPM
  • salivary gland: 64 nTPM
  • cervix: 47 nTPM
  • pituitary gland: 46 nTPM
  • duodenum: 40 nTPM
  • small intestine: 38 nTPM

Single-cell type

  • pituicytes/fscs: 723 nCPM
  • enterocytes: 104 nCPM
  • colonocytes: 82 nCPM
  • pancreatic islet cells: 53 nCPM
  • myosatellite cells: 51 nCPM
  • salivary myoepithelial cells: 45 nCPM

Immune cell

  • memory CD4 T-cell: 0.3 nTPM
  • T-reg: 0.2 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • thalamus: 20 nTPM
  • pons: 15 nTPM
  • midbrain: 13 nTPM
  • medulla oblongata: 6.9 nTPM
  • basal ganglia: 5.9 nTPM
  • spinal cord: 5.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EDN3.

Disease | AllUniProt

Conditions EDN3 is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 198 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.96
gnomAD pLI
0.02
gnomAD missense Z
-0.94
DepMap mean gene effect
0.16
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EDN3 as an antibody target. Whether an autoantibody or antibody against EDN3 could matter depends on whether native EDN3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EDN3 is annotated as secreted, so native EDN3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label EDN3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EDN3. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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