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Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000114 Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 TBD

*Business Day

Related Services

RefSeq Version NM_000114.2, 46370058
Length 2438 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.
Product endothelin-3 isoform 1 preproprotein
Comment

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. Four alternatively spliced transcript variants encoding three distinct isoforms have been observed. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) encodes the longest isoform (1).

RefSeq NP_000105.1
CDS 370..1086
Misc Feature(1)358..360
Misc Feature(2)646..735
Misc Feature(3)718..723
Misc Feature(4)718..720
Misc Feature(5)748..750
Misc Feature(6)841..906
Misc Feature(7)844..888
Exon (1)1..421
Gene:EDN3
Gene Synonym:ET-3; ET3; HSCR4; PPET3; WS4B
Exon (2)422..734
Gene:EDN3
Gene Synonym:ET-3; ET3; HSCR4; PPET3; WS4B
Exon (3)735..911
Gene:EDN3
Gene Synonym:ET-3; ET3; HSCR4; PPET3; WS4B
Exon (4)912..957
Gene:EDN3
Gene Synonym:ET-3; ET3; HSCR4; PPET3; WS4B
Exon (5)958..1101
Gene:EDN3
Gene Synonym:ET-3; ET3; HSCR4; PPET3; WS4B
Exon (6)1102..2398
Gene:EDN3
Gene Synonym:ET-3; ET3; HSCR4; PPET3; WS4B
Translation MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAG PGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCFTYKDKECVYYCHLDIIWINT PEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVS SNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP
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Position Chain Variation Link
complement(56)-dbSNP:
complement(56)-c, adbSNP:149334
119+a, gdbSNP:6070763
157+c, tdbSNP:11570253
293+a, tdbSNP:11570254
326+c, tdbSNP:368814466
329+c, gdbSNP:371551500
351+a, cdbSNP:375594972
complement(365)-t, cdbSNP:149697
380+c, gdbSNP:202140125
412+g, tdbSNP:374697035
418+a, gdbSNP:11570255
421+c, tdbSNP:457755
463+a, gdbSNP:369335129
467+a, tdbSNP:371691396
504+c, tdbSNP:143959111
510+a, gdbSNP:113842164
515+c, tdbSNP:148646322
536+a, gdbSNP:369619472
550+c, tdbSNP:373609215
complement(560)-t, cdbSNP:457651
577+a, gdbSNP:369429604
587+a, gdbSNP:376041123
613+a, gdbSNP:370091378
620+a, cdbSNP:142051051
623+c, gdbSNP:150731720
630+a, gdbSNP:139978625
634+c, tdbSNP:144937074
637+c, gdbSNP:147917971
646+c, gdbSNP:267606779
656+a, gdbSNP:141776410
663+c, gdbSNP:145414258
704+a, gdbSNP:267606778
714+c, tdbSNP:149729435
725+a, tdbSNP:202126740
731+c, tdbSNP:267606028
742+dbSNP:
742+g, tdbSNP:34604265
773+g, tdbSNP:374873073
795+a, gdbSNP:187049336
830+a, gdbSNP:145239588
839+c, tdbSNP:369295391
845+g, tdbSNP:74315384
846+c, tdbSNP:149177260
855+a, gdbSNP:372385465
870+a, gdbSNP:143232619
876+a, c, tdbSNP:74315385
877+c, tdbSNP:151250216
complement(894)-t, cdbSNP:34780366
903+c, tdbSNP:374020215
923+dbSNP:
923+c, tdbSNP:368327225
928..929+, adbSNP:11570344
934..935+, adbSNP:397843910
968+dbSNP:
968+a, tdbSNP:145582774
1032+c, tdbSNP:137985872
1033+a, gdbSNP:201352056
1038+c, tdbSNP:370508486
1039+a, gdbSNP:11570351
1046+c, tdbSNP:200741552
1057+c, tdbSNP:372958987
1058+a, gdbSNP:144250756
1086+a, gdbSNP:376137509
1087+g, tdbSNP:138451394
1220+dbSNP:
1220+a, gdbSNP:79786751
1310+c, tdbSNP:191496604
1332+c, tdbSNP:143382055
1396+a, gdbSNP:11570355
complement(1465..1466)-t, cdbSNP:3026574
1465+a, gdbSNP:11570356
1622+a, gdbSNP:57724975
1628+a, gdbSNP:6026809
complement(1729)-g, cdbSNP:3026573
1780+c, tdbSNP:11570357
1822+a, gdbSNP:3026572
complement(1827)-t, cdbSNP:138371508
1872+c, gdbSNP:13037048
1877+c, tdbSNP:11570358
1955+c, tdbSNP:181368086
1988+g, tdbSNP:376536945
2009+c, tdbSNP:11570359
complement(2012)-t, cdbSNP:3026571
2012+a, gdbSNP:386578766
2120+c, tdbSNP:12322
2121+a, gdbSNP:190002794
2157+c, tdbSNP:6015474
2256+c, tdbSNP:6026810
2348+a, gdbSNP:183354781
2371+c, tdbSNP:6026811
2383+c, tdbSNP:6026812
Gene SymbolEDN3
Gene SynonymET-3; ET3; HSCR4; PPET3; WS4B
Chromosome20
Locus Map20q13.2-q13.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_207032 Homo sapiens endothelin 3 (EDN3), transcript variant 2, mRNA. In-stock $308.00 $259.00 TBD
NM_207034 Homo sapiens endothelin 3 (EDN3), transcript variant 4, mRNA. In-stock $308.00 $259.00 TBD
NM_207033 Homo sapiens endothelin 3 (EDN3), transcript variant 3, mRNA. On-demand TBD TBD
NM_000114 Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. In-stock $308.00 $259.00 TBD
XM_005260312 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X1, mRNA. On-demand TBD TBD
XM_005260313 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X2, mRNA. On-demand TBD TBD
XM_006723734 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X4, mRNA. On-demand TBD TBD
XM_005260314 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X3, mRNA. On-demand TBD TBD
Title Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide .
Author Turner ST, Boerwinkle E, O'Connell JR, Bailey KR, Gong Y, Chapman AB, McDonough CW, Beitelshees AL, Schwartz GL, Gums JG, Padmanabhan S, Hiltunen TP, Citterio L, Donner KM, Hedner T, Lanzani C, Melander O, Saarela J, Ripatti S, Wahlstrand B, Manunta P, Kontula K, Dominiczak AF, Cooper-DeHoff RM and Johnson JA.
Journal Hypertension 62 (2), 391-397 (2013)
Title Epigenetic inactivation of endothelin-2 and endothelin-3 in colon cancer .
Author Wang R, Lohr CV, Fischer K, Dashwood WM, Greenwood JA, Ho E, Williams DE, Ashktorab H, Dashwood MR and Dashwood RH.
Journal Int. J. Cancer 132 (5), 1004-1012 (2013)
Title Gene expression of endothelin receptors in replaced rheumatic mitral stenotic valves .
Author Leao SC, Souto FM, Costa RV, Rocha Tde F, Pacheco YG and Rodrigues TM.
Journal Rev Bras Cir Cardiovasc 27 (4), 512-519 (2012)
Title Increased plasma levels of big-endothelin-2 and big-endothelin-3 in patients with end-stage renal disease .
Author Miyauchi Y, Sakai S, Maeda S, Shimojo N, Watanabe S, Honma S, Kuga K, Aonuma K and Miyauchi T.
Journal Life Sci. 91 (13-14), 729-732 (2012)
Title Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy .
Author Kapoor S, Bindu PS, Taly AB, Sinha S, Gayathri N, Rani SV, Chandak
Journal Mol. Vis. 18, 2022-2032 (2012)
Title Hirschsprung Disease Overview .
Author Parisi,M.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Presence of messenger ribonucleic acid for endothelin-1, endothelin-2, and endothelin-3 in human endometrium and a change in the ratio of ETA and ETB receptor subtype across the menstrual cycle .
Author O'Reilly G, Charnock-Jones DS, Davenport AP, Cameron IT and Smith SK.
Journal J. Clin. Endocrinol. Metab. 75 (6), 1545-1549 (1992)
Title Solution structure of endothelin-3 determined using NMR spectroscopy .
Author Mills RG, O'Donoghue SI, Smith R and King GF.
Journal Biochemistry 31 (24), 5640-5645 (1992)
Title Cloning and functional expression of human cDNA for the ETB endothelin receptor .
Author Sakamoto A, Yanagisawa M, Sakurai T, Takuwa Y, Yanagisawa H and Masaki T.
Journal Biochem. Biophys. Res. Commun. 178 (2), 656-663 (1991)
Title The gene for the novel vasoactive peptide endothelin 3 (EDN3) is localized to human chromosome 20q13.2-qter .
Author Rao VV, Loffler C and Hansmann I.
Journal Genomics 10 (3), 840-841 (1991)

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