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EDN2 endothelin 2 [ Homo sapiens (human) ]

Gene ID: 1907, updated on 4-Jan-2025

Summary

Official Symbol
EDN2provided by HGNC
Official Full Name
endothelin 2provided by HGNC
Primary source
HGNC:HGNC:3177
See related
Ensembl:ENSG00000127129 MIM:131241; AllianceGenome:HGNC:3177
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
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Genomic context

See EDN2 in Genome Data Viewer
Location:
1p34.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (41478775..41484683, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (41348976..41370636, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (41944446..41950354, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378678 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:41893573-41893763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41899108-41899739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41899838-41900622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41916745-41917304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:41928734-41929234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41942603-41943309 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41947626-41948612 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:41951461-41952660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41959702-41960232 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:41961826-41962374 Neighboring gene RNA, 5S ribosomal pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41968132-41968632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41978699-41979199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:41987015-41987609 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:42006631-42006845 Neighboring gene vir like m6A methyltransferase associated pseudogene Neighboring gene HIVEP zinc finger 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 869 Neighboring gene uncharacterized LOC128125817

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endothelin B receptor binding  
enables endothelin B receptor binding  
enables hormone activity  
enables hormone activity PubMed 
Items 1 - 25 of 29
Process Evidence Code Pubs
involved_in angiogenesis  
involved_in artery smooth muscle contraction PubMed 
involved_in axon extension  
involved_in cell surface receptor signaling pathway PubMed 
involved_in cell tip growth  
involved_in cytokine-mediated signaling pathway PubMed 
involved_in endothelial cell migration  
involved_in energy homeostasis  
involved_in hormonal regulation of the force of heart contraction PubMed 
involved_in intracellular calcium ion homeostasis  
involved_in lung alveolus development  
involved_in macrophage activation PubMed 
involved_in macrophage chemotaxis PubMed 
involved_in neutrophil chemotaxis PubMed 
involved_in positive regulation of calcium-mediated signaling PubMed 
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of heart rate PubMed 
involved_in positive regulation of leukocyte chemotaxis PubMed 
involved_in positive regulation of prostaglandin-endoperoxide synthase activity PubMed 
involved_in positive regulation of smooth muscle contraction  
involved_in positive regulation of the force of heart contraction by chemical signal PubMed 
involved_in prostaglandin biosynthetic process PubMed 
involved_in regulation of systemic arterial blood pressure by endothelin  
involved_in regulation of systemic arterial blood pressure by endothelin PubMed 
involved_in regulation of vasoconstriction  
involved_in temperature homeostasis  
involved_in vasoconstriction PubMed 
involved_in vein smooth muscle contraction  
involved_in vein smooth muscle contraction PubMed 
Items 1 - 25 of 29
Component Evidence Code Pubs
located_in extracellular region  
is_active_in extracellular space  
located_in extracellular space PubMed 

General protein information

Preferred Names
endothelin-2
Names
preproendothelin 2

NCBI Reference Sequences (RefSeq)

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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, Q5T1R3
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    41478775..41484683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

RNA

  1. XR_001737015.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    41348976..41370636 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334817.1XP_054190792.1  endothelin-2 isoform X2

  2. XM_054334818.1XP_054190793.1  endothelin-2 isoform X1

RNA

  1. XR_008485946.1 RNA Sequence

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