Human Gene EDN2 (ENST00000372587.5_7) from GENCODE V47lift37
  Description: endothelin 2, transcript variant 1 (from RefSeq NM_001956.5)
Gencode Transcript: ENST00000372587.5_7
Gencode Gene: ENSG00000127129.10_9
Transcript (Including UTRs)
   Position: hg19 chr1:41,944,446-41,950,354 Size: 5,909 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr1:41,945,080-41,950,272 Size: 5,193 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:41,944,446-41,950,354)mRNA (may differ from genome)Protein (178 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EDN2_HUMAN
DESCRIPTION: RecName: Full=Endothelin-2; Short=ET-2; AltName: Full=Preproendothelin-2; Short=PPET2; Flags: Precursor;
FUNCTION: Endothelins are endothelium-derived vasoconstrictor peptides.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Expressed in lung, but not in placental stem villi vessels or cultured placental villi smooth muscle cells.
SIMILARITY: Belongs to the endothelin/sarafotoxin family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/edn2/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: EDN2
Diseases sorted by gene-association score: eccrine acrospiroma (16), eccrine sweat gland neoplasm (11), patellofemoral pain syndrome (6), aortic disease (4), streptococcal meningitis (4), hypertension, essential (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.06 RPKM in Small Intestine - Terminal Ileum
Total median expression: 42.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -27.9082-0.340 Picture PostScript Text
3' UTR -247.50634-0.390 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020475 - Bibrotoxin/Sarafotoxin-D
IPR019764 - Endothelin_toxin_CS
IPR001928 - Endothln-like_toxin
IPR015658 - ET-2

Pfam Domains:
PF00322 - Endothelin family

ModBase Predicted Comparative 3D Structure on P20800
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005179 hormone activity
GO:0031708 endothelin B receptor binding

Biological Process:
GO:0001516 prostaglandin biosynthetic process
GO:0001659 temperature homeostasis
GO:0002690 positive regulation of leukocyte chemotaxis
GO:0003058 hormonal regulation of the force of heart contraction
GO:0003099 positive regulation of the force of heart contraction by chemical signal
GO:0003100 regulation of systemic arterial blood pressure by endothelin
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0008284 positive regulation of cell proliferation
GO:0010460 positive regulation of heart rate
GO:0010469 regulation of receptor activity
GO:0014824 artery smooth muscle contraction
GO:0014826 vein smooth muscle contraction
GO:0019221 cytokine-mediated signaling pathway
GO:0019229 regulation of vasoconstriction
GO:0019722 calcium-mediated signaling
GO:0030593 neutrophil chemotaxis
GO:0042116 macrophage activation
GO:0042310 vasoconstriction
GO:0045987 positive regulation of smooth muscle contraction
GO:0048016 inositol phosphate-mediated signaling
GO:0048246 macrophage chemotaxis
GO:0048286 lung alveolus development
GO:0050880 regulation of blood vessel size
GO:0060585 positive regulation of prostaglandin-endoperoxide synthase activity
GO:0097009 energy homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005622 intracellular
GO:0005623 cell


-  Descriptions from all associated GenBank mRNAs
  BC034393 - Homo sapiens endothelin 2, mRNA (cDNA clone MGC:34606 IMAGE:5185394), complete cds.
X55177 - H.sapiens ET-2 mRNA for endothelin-2.
M65199 - Human endothelin 2 (ET2) mRNA, complete cds.
E03941 - cDNA sequence encoding human endoserine.
JD292473 - Sequence 273497 from Patent EP1572962.
JD334703 - Sequence 315727 from Patent EP1572962.
JD067163 - Sequence 48187 from Patent EP1572962.
JD081594 - Sequence 62618 from Patent EP1572962.
JD165655 - Sequence 146679 from Patent EP1572962.
JD203998 - Sequence 185022 from Patent EP1572962.
JD384279 - Sequence 365303 from Patent EP1572962.
JD129641 - Sequence 110665 from Patent EP1572962.
S63516 - endothelin-2 {alternatively spliced, clone 88} [human, mRNA Partial, 88 nt].
S63833 - endothelin-2 {alternatively spliced, clone 432} [human, mRNA Partial, 430 nt].
S63834 - endothelin-2 {alternatively spliced, clone 484} [human, mRNA Partial, 484 nt].
S63835 - endothelin-2 {alternatively spliced, clone 176} [human, mRNA Partial, 187 nt].
S63836 - endothelin-2 {alternatively spliced, clone 211} [human, mRNA Partial, 211 nt].
S63837 - endothelin-2 {alternatively spliced, clone 310} [human, mRNA Partial, 310 nt].
S63838 - endothelin-2 {alternatively spliced, clone 362} [human, mRNA Partial, 362 nt].

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P20800 (Reactome details) participates in the following event(s):

R-HSA-388560 Endothelin receptors bind endothelin
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-388396 GPCR downstream signalling
R-HSA-500792 GPCR ligand binding
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: EDN2_HUMAN, ENST00000372587.1, ENST00000372587.2, ENST00000372587.3, ENST00000372587.4, NM_001956, P20800, Q5T1R3, uc318kba.1, uc318kba.2
UCSC ID: ENST00000372587.5_7
RefSeq Accession: NM_001956.5
Protein: P20800 (aka EDN2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.