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 chr1:41,944,446-41,950,344 Size: 5,899 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr1:41,945,080-41,950,272 Size: 5,193 Coding Exon Count: 5
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): EDN2 CDC HuGE Published Literature: EDN2 Positive Disease Associations: hypertension Related Studies:
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.
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.
ModBase Predicted Comparative 3D Structure on P20800
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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.