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    EDN3 endothelin 3 [ Homo sapiens (human) ]

    Gene ID: 1908, updated on 22-Sep-2023

    Summary

    Official Symbol
    EDN3provided by HGNC
    Official Full Name
    endothelin 3provided by HGNC
    Primary source
    HGNC:HGNC:3178
    See related
    Ensembl:ENSG00000124205 MIM:131242; AllianceGenome:HGNC:3178
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EDN3 in Genome Data Viewer
    Location:
    20q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59300611..59325992)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (61083933..61109315)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57875666..57901047)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:57697082-57697631 Neighboring gene mitochondrial ribosomal protein S16 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57734401-57735226 Neighboring gene zinc finger protein 831 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:57770614-57771813 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57893004-57893504 Neighboring gene Sharpr-MPRA regulatory region 9189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57950919-57951420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:57979490-57979990 Neighboring gene NANOG hESC enhancer GRCh37_chr20:58013205-58013760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58070963-58071463 Neighboring gene piezo type mechanosensitive ion channel component 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58089356-58090192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58090193-58091028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58143003-58143837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:58147145-58147686 Neighboring gene phosphatase and actin regulator 3 Neighboring gene PHACTR3 antisense RNA 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?

    Phenotypes

    Associated conditions

    Description Tests
    Hirschsprung disease, susceptibility to, 4
    MedGen: C3150975 OMIM: 613712 GeneReviews: Not available
    Compare labs
    Waardenburg syndrome type 4B
    MedGen: C2750457 OMIM: 613265 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC15067, MGC61498

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endothelin B receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables endothelin B receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    NOT 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 axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood circulation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in intracellular magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neural crest cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutrophil chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptide hormone secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of cell differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within 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 hormone secretion 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 mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of prostaglandin-endoperoxide synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of developmental pigmentation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of systemic arterial blood pressure by endothelin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    PubMed 
    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
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    endothelin-3
    Names
    preproendothelin-3

    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.

    Genomic

    1. NG_008050.1 RefSeqGene

      Range
      5168..30549
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1381

    mRNA and Protein(s)

    1. NM_001302455.2NP_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, DN989853
      UniProtKB/Swiss-Prot
      P14138
      UniProtKB/TrEMBL
      A0A2R8Y214
      Related
      ENSP00000493472.1, ENST00000644821.1
      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    2. NM_001302456.2NP_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, DQ096281, X52001
      Consensus CDS
      CCDS77597.1
      UniProtKB/Swiss-Prot
      P14138
      UniProtKB/TrEMBL
      A0A2R8Y214, Q4FAT2
      Related
      ENSP00000360064.3, ENST00000371025.7
      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    3. NM_001424361.1NP_001411290.1  endothelin-3 isoform 6 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AL035250
    4. NM_001424362.1NP_001411291.1  endothelin-3 isoform 7 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AL035250
    5. NM_001424363.1NP_001411292.1  endothelin-3 isoform 8 preproprotein

      Status: REVIEWED

      Source sequence(s)
      AL035250
    6. NM_207032.3NP_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
      Consensus CDS
      CCDS13479.1
      UniProtKB/Swiss-Prot
      P14138
      UniProtKB/TrEMBL
      A0A2R8Y214
      Related
      ENSP00000311854.7, ENST00000311585.11
      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    7. NM_207033.3NP_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, X52001
      Consensus CDS
      CCDS13478.1
      UniProtKB/Swiss-Prot
      P14138
      UniProtKB/TrEMBL
      A0A2R8Y214
      Related
      ENSP00000379015.3, ENST00000395654.3
      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    8. 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
      E1P5I5, P14138, Q03229, Q7Z6D2, Q9UGT7
      UniProtKB/TrEMBL
      A0A2R8Y214
      Related
      ENSP00000337128.2, ENST00000337938.7
      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: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      59300611..59325992
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528655.3XP_011526957.1  endothelin-3 isoform X2

      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    2. XM_005260313.6XP_005260370.1  endothelin-3 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y214
      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    3. XM_006723734.4XP_006723797.1  endothelin-3 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y214
      Conserved Domains (2) summary
      smart00272
      Location:158179
      END; Endothelin
      pfam00322
      Location:93121
      Endothelin; Endothelin family
    4. XM_005260312.5XP_005260369.1  endothelin-3 isoform X1

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

    RNA

    1. XR_936513.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      61083933..61109315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323135.1XP_054179110.1  endothelin-3 isoform X2

    2. XM_054323136.1XP_054179111.1  endothelin-3 isoform X3

      UniProtKB/TrEMBL
      A0A2R8Y214
    3. XM_054323137.1XP_054179112.1  endothelin-3 isoform X4

      UniProtKB/TrEMBL
      A0A2R8Y214
    4. XM_054323134.1XP_054179109.1  endothelin-3 isoform X1

    RNA

    1. XR_008485241.1 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.