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    EDN2 endothelin 2 [ Homo sapiens (human) ]

    Gene ID: 1907, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EDN2 in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (41478775..41484683, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (41348976..41370636, complement)
    105.20220307 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: 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

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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

    Preferred Names
    endothelin-2
    Names
    preproendothelin 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_2023_10

    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