Human Gene EDN2 (uc001cgv.3)
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Sequence and Links to Tools and Databases
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Primer design for this transcript
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Genetic Association Studies of Complex Diseases and Disorders
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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.
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MalaCards Disease Associations
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Comparative Toxicogenomics Database (CTD)
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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Orthologous Genes in Other Species
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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.
Mouse | Rat | Zebrafish | D. melanogaster | C. elegans | S. cerevisiae |
No ortholog | No ortholog | No ortholog | No ortholog | No ortholog | No ortholog |
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Descriptions from all associated GenBank mRNAs
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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].
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Biochemical and Signaling Pathways
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KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04080 - Neuroactive ligand-receptor interaction hsa04270 - Vascular smooth muscle contraction hsa05410 - Hypertrophic cardiomyopathy (HCM)
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Other Names for This Gene
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Alternate Gene Symbols: S63838 UCSC ID: uc001cgv.3 RefSeq Accession: NM_001956
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Gene Model Information
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category:
| nearCoding
| nonsense-mediated-decay:
| no
| RNA accession:
| S63838.1
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exon count:
| 5 | CDS single in 3' UTR:
| no
| RNA size:
| 362 |
ORF size:
| 0 | CDS single in intron:
| no
| Alignment % ID:
| 99.72 |
txCdsPredict score:
| 411.50 | frame 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 |
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Click here
for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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