EDN2 endothelin 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The loss of endothelin-2 exhibits an anticancer effect in A549 human lung adenocarcinoma cell line.
Title: The loss of endothelin-2 exhibits an anticancer effect in A549 human lung adenocarcinoma cell line.
Reduced Endothelin-2 and Hypoxic Signaling Pathways in Granulosa-Lutein Cells of PCOS Women.
Title: Reduced Endothelin-2 and Hypoxic Signaling Pathways in Granulosa-Lutein Cells of PCOS Women.
EDN2 expression in left internal mammary arteries depends on tissue harvesting technique.
Title: The comparison of traditional and modified harvesting techniques of left ınternal mammary artery regarding endothelin-1/2/3 expression and free flow capacity.
Overexpression of Edn2 in the mouse retina causes an excess of tip cells and inhibits vascular growth. Overexpression of Edn2 in the brain and skin had no effect, but vascular development was inhibited in midgestation mouse embryos.
Title: Endothelin-2 signaling in the neural retina promotes the endothelial tip cell state and inhibits angiogenesis.
Endothelin 2 and endothelin receptor type B may be a regenerative pathway for central nervous system myelination and remyelination.
Title: Identification of endothelin 2 as an inflammatory factor that promotes central nervous system remyelination.
Studies revealed hypermethylation of EDN2 and EDN3 genes in human primary colon cancers and in a panel of human colon cancer cell lines. Epigenetic inactivation of ET-2 and ET-3 occurs frequently in both rat and human colon cancers.
Title: Epigenetic inactivation of endothelin-2 and endothelin-3 in colon cancer.
plasma levels of big ET-2, and big ET-3 are markedly increased in patients with end stage renal disease on hemodialysis
Title: Increased plasma levels of big-endothelin-2 and big-endothelin-3 in patients with end-stage renal disease.
In granulosa lutein cells from women with polycystic ovary syndrome, endothelin-2 mRNA was reduced as compared with normally ovulating women
Title: Altered endothelin expression in granulosa-lutein cells of women with polycystic ovary syndrome.
although endothelin 2 does not appear to be an independent prognostic marker, there is evidence of a putative role in clear cell renal cell carcinoma progression
Title: Expression of endothelin 2 and localized clear cell renal cell carcinoma.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EDN2_27 (e-PCR)
- UniSTS:277182

SHGC-74658 (e-PCR)
- UniSTS:43994

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables endothelin B receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables endothelin B receptor binding	IPI Inferred from Physical Interaction more info
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in artery smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in axon extension	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IC Inferred by Curator more info	PubMed
involved_in cell tip growth	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in endothelial cell migration	IEA Inferred from Electronic Annotation more info
involved_in energy homeostasis	IEA Inferred from Electronic Annotation more info
involved_in hormonal regulation of the force of heart contraction	TAS Traceable Author Statement more info	PubMed
involved_in intracellular calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in macrophage activation	IDA Inferred from Direct Assay more info	PubMed
involved_in macrophage chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in neutrophil chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of calcium-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of heart rate	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of leukocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of prostaglandin-endoperoxide synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smooth muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of the force of heart contraction by chemical signal	TAS Traceable Author Statement more info	PubMed
involved_in prostaglandin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of systemic arterial blood pressure by endothelin	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of systemic arterial blood pressure by endothelin	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	IEA Inferred from Electronic Annotation more info
involved_in vasoconstriction	IDA Inferred from Direct Assay more info	PubMed
involved_in vein smooth muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in vein smooth muscle contraction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

NM_001302269.2 → NP_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:96 → 115

END; Endothelin

pfam00322
Location:45 → 73

Endothelin; Endothelin family
NM_001956.5 → NP_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:96 → 116

END; Endothelin

pfam00322
Location:45 → 73

Endothelin; Endothelin family

RNA

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