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EDN3 endothelin 3 [ Homo sapiens (human) ]

Gene ID: 1908, updated on 3-Mar-2019

Summary

Official Symbol
EDN3provided by HGNC
Official Full Name
endothelin 3provided by HGNC
Primary source
HGNC:HGNC:3178
See related
Ensembl:ENSG00000124205 MIM:131242
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ET3; ET-3; WS4B; HSCR4; PPET3
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]
Expression
Biased expression in small intestine (RPKM 16.6), duodenum (RPKM 16.3) and 11 other tissues See more
Orthologs

Genomic context

See EDN3 in Genome Data Viewer
Location:
20q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (59300415..59325992)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57875499..57901047)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 831 Neighboring gene uncharacterized LOC107985389 Neighboring gene uncharacterized LOC105372696 Neighboring gene piezo type mechanosensitive ion channel component 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital central hypoventilation Compare labs
Hirschsprung disease 4
MedGen: C3150975 OMIM: 613712 GeneReviews: Not available
Compare labs
Waardenburg syndrome type 4B
MedGen: C2750457 OMIM: 613265 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog
Genome-wide association study of blood pressure and hypertension.
NHGRI GWA Catalog
Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide.
NHGRI GWA Catalog

Pathways from BioSystems

  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC15067, MGC61498

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endothelin B receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
hormone activity IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
NOT artery smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular magnesium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
neural crest cell migration IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
peptide hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell differentiation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of heart rate IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of leukocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitotic nuclear division IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of developmental pigmentation IEA
Inferred from Electronic Annotation
more info
 
regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of signaling receptor activity IEA
Inferred from Electronic Annotation
more info
 
regulation of systemic arterial blood pressure by endothelin IDA
Inferred from Direct Assay
more info
PubMed 
regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
vasoconstriction IDA
Inferred from Direct Assay
more info
PubMed 
vein smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endothelin-3
Names
preproendothelin-3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008050.1 RefSeqGene

    Range
    4984..30549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302455.1NP_001289384.1  endothelin-3 isoform 4 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' terminal exon, which results in a frameshift and an early stop codon, compared to variant 4. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC008876, BC053866, BF305608, DN989853
    UniProtKB/Swiss-Prot
    P14138
    Related
    ENSP00000493472.1, ENST00000644821.1
    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  2. NM_001302456.1NP_001289385.1  endothelin-3 isoform 5 preproprotein

    See identical proteins and their annotated locations for NP_001289385.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an exon in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 4. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC008876, BC053866, BF305608, DQ096281, X52001
    Consensus CDS
    CCDS77597.1
    UniProtKB/Swiss-Prot
    P14138
    UniProtKB/TrEMBL
    Q4FAT2
    Related
    ENSP00000360064.3, ENST00000371025.7
    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  3. NM_207032.2NP_996915.1  endothelin-3 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_996915.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 4. The encoded isoform (2), is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC008876, BC053866, BF305608
    Consensus CDS
    CCDS13479.1
    UniProtKB/Swiss-Prot
    P14138
    Related
    ENSP00000311854.7, ENST00000311585.11
    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  4. NM_207033.2NP_996916.1  endothelin-3 isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_996916.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 3' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 4. The encoded isoform (3) is shorter and has two distinct internal amino acids, compared to isoform 1.
    Source sequence(s)
    BC008876, BC053866, BF305608, X52001
    Consensus CDS
    CCDS13478.1
    UniProtKB/Swiss-Prot
    P14138
    Related
    ENSP00000379015.3, ENST00000395654.3
    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  5. NM_207034.3NP_996917.1  endothelin-3 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_996917.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (1).
    Source sequence(s)
    BC008876
    Consensus CDS
    CCDS13477.1
    UniProtKB/Swiss-Prot
    P14138
    Related
    ENSP00000337128.2, ENST00000337938.6
    Conserved Domains (3) summary
    PHA03418
    Location:2487
    PHA03418; hypothetical E4 protein; Provisional
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    59300415..59325992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451848.1XP_024307616.1  endothelin-3 isoform X5

    Conserved Domains (3) summary
    PHA03418
    Location:2487
    PHA03418; hypothetical E4 protein; Provisional
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  2. XM_011528655.2XP_011526957.1  endothelin-3 isoform X2

    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  3. XM_005260313.5XP_005260370.1  endothelin-3 isoform X3

    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  4. XM_006723734.3XP_006723797.1  endothelin-3 isoform X4

    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  5. XM_024451847.1XP_024307615.1  endothelin-3 isoform X5

    Conserved Domains (3) summary
    PHA03418
    Location:2487
    PHA03418; hypothetical E4 protein; Provisional
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family
  6. XM_005260312.4XP_005260369.1  endothelin-3 isoform X1

    Conserved Domains (2) summary
    smart00272
    Location:158179
    END; Endothelin
    pfam00322
    Location:93121
    Endothelin; Endothelin family

RNA

  1. XR_002958461.1 RNA Sequence

  2. XR_002958462.1 RNA Sequence

  3. XR_936513.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_000114.2: Suppressed sequence

    Description
    NM_000114.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
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