Human Gene EDN2 (uc001cgw.3)
  Description: Homo sapiens endothelin 2 (EDN2), mRNA.
RefSeq Summary (NM_001956): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:41,944,446-41,949,874 Size: 5,429 Total Exon Count: 3 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:41,944,446-41,949,874)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneNetworkH-INVHGNC
LynxMalacardsPubMedTreefamWikipedia

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EDN2
CDC HuGE Published Literature: EDN2
Positive Disease Associations: hypertension
Related Studies:
  1. hypertension
    Sharma P et al. 1999, Quantitative association between a newly identified molecular variant in the endothelin-2 gene and human essential hypertension., Journal of hypertension. 1999 Sep;17(9):1281-7. [PubMed 10489105]
    This newly identified polymorphism of the ET2 gene tracked significantly in hypertensives when blood pressure was assessed as a quantitative trait. The difference in genotype and allele frequencies between the extremes of blood pressure suggest that the ET2 locus influences the severity rather than the initial development of hypertension.

-  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           more ... click here to view the complete list

-  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.

-  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
      
      
      
      
      

-  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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction
hsa04270 - Vascular smooth muscle contraction
hsa05410 - Hypertrophic cardiomyopathy (HCM)

-  Other Names for This Gene
  Alternate Gene Symbols: S63836
UCSC ID: uc001cgw.3
RefSeq Accession: NM_001956

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: no RNA accession: S63836.1
exon count: 3CDS single in 3' UTR: no RNA size: 211
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 411.50frame shift in genome: no % Coverage: 100.00
has start codon: no stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.