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EDN2 endothelin 2 [ Homo sapiens (human) ]

Gene ID: 1907, updated on 13-Mar-2020

Summary

Official Symbol
EDN2provided by HGNC
Official Full Name
endothelin 2provided by HGNC
Primary source
HGNC:HGNC:3177
See related
Ensembl:ENSG00000127129 MIM:131241
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
ET2; ET-2; PPET2
Summary
This gene encodes a member of the endothelin protein family of secretory vasoconstrictive peptides. The preproprotein is processed to a short mature form which functions as a ligand for the endothelin receptors that initiate intracellular signaling events. This gene product is involved in a wide range of biological processes, such as hypertension and ovulation. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Expression
Biased expression in small intestine (RPKM 7.3), esophagus (RPKM 3.9) and 5 other tissues See more
Orthologs

Genomic context

See EDN2 in Genome Data Viewer
Location:
1p34.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (41478775..41484699, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41944446..41950348, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378678 Neighboring gene RNA, 5S ribosomal pseudogene 45 Neighboring gene vir like m6A methyltransferase associated pseudogene Neighboring gene HIVEP zinc finger 3 Neighboring gene heterogeneous nuclear ribonucleoprotein F 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
artery smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
cell surface receptor signaling pathway IC
Inferred by Curator
more info
PubMed 
cytokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
energy homeostasis IEA
Inferred from Electronic Annotation
more info
 
hormonal regulation of the force of heart contraction TAS
Traceable Author Statement
more info
PubMed 
inositol phosphate-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
macrophage activation IDA
Inferred from Direct Assay
more info
PubMed 
macrophage chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of heart rate IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of leukocyte chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of prostaglandin-endoperoxide synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of the force of heart contraction by chemical signal TAS
Traceable Author Statement
more info
PubMed 
prostaglandin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
temperature homeostasis IEA
Inferred from Electronic Annotation
more info
 
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-2
Names
preproendothelin 2

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.

mRNA and Protein(s)

  1. NM_001302269.2NP_001289198.1  endothelin-2 isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AW452560, BC034393, HY177176
    UniProtKB/Swiss-Prot
    P20800
    Conserved Domains (2) summary
    smart00272
    Location:96115
    END; Endothelin
    pfam00322
    Location:4573
    Endothelin; Endothelin family
  2. NM_001956.5NP_001947.1  endothelin-2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AW452560, BC034393, HY177176
    Consensus CDS
    CCDS462.1
    UniProtKB/Swiss-Prot
    P20800
    Related
    ENSP00000361668.4, ENST00000372587.5
    Conserved Domains (2) summary
    smart00272
    Location:96116
    END; Endothelin
    pfam00322
    Location:4573
    Endothelin; Endothelin family

RNA

  1. NR_126098.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AW452560, BC034393, BI761655, HY177176

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    41478775..41484699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000512.1XP_016856001.1  endothelin-2 isoform X1

RNA

  1. XR_001737015.1 RNA Sequence

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