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


RefSeq Accession Definition Services Price Order
NM_000114 Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. ORF Sequence $207.93
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_000114.2, 46370058
Length 2438 bp
Structure linear
Update Date 17-APR-2013
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
56+dbSNP:
56+a, cdbSNP:149334
119+a, gdbSNP:6070763
157+c, tdbSNP:11570253
293+a, tdbSNP:11570254
365+c, tdbSNP:149697
380+c, gdbSNP:202140125
418+a, gdbSNP:11570255
421+c, tdbSNP:457755
504+c, tdbSNP:143959111
510+a, gdbSNP:113842164
515+c, tdbSNP:148646322
560+c, tdbSNP:457651
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
742+dbSNP:
742+g, tdbSNP:34604265
795+a, gdbSNP:187049336
830+a, gdbSNP:145239588
845+g, tdbSNP:74315384
846+c, tdbSNP:149177260
870+a, gdbSNP:143232619
876+a, c, tdbSNP:74315385
877+c, tdbSNP:151250216
894+c, tdbSNP:34780366
928..929+dbSNP:
928..929+, adbSNP:199531121
929..930+, adbSNP:11570344
968+dbSNP:
968+a, tdbSNP:145582774
1032+c, tdbSNP:137985872
1033+a, gdbSNP:201352056
1039+a, gdbSNP:11570351
1046+c, tdbSNP:200741552
1058+a, gdbSNP:144250756
1087+g, tdbSNP:138451394
1220+dbSNP:
1220+a, gdbSNP:79786751
1310+c, tdbSNP:191496604
1332+c, tdbSNP:143382055
1396+a, gdbSNP:11570355
1465..1466+c, tdbSNP:3026574
1465+a, gdbSNP:11570356
1622+a, gdbSNP:57724975
1628+a, gdbSNP:6026809
1729+c, gdbSNP:3026573
1780+c, tdbSNP:11570357
1822+a, gdbSNP:3026572
1827+c, tdbSNP:138371508
1872+c, gdbSNP:13037048
1877+c, tdbSNP:11570358
1955+c, tdbSNP:181368086
2009+c, tdbSNP:11570359
2012+c, tdbSNP:3026571
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 Sequence Price Select
NM_000114 Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. Full Length $707.02
ORF Sequence $207.93
NM_207032 Homo sapiens endothelin 3 (EDN3), transcript variant 2, mRNA. Full Length $781.26
ORF Sequence $191.40
NM_207033 Homo sapiens endothelin 3 (EDN3), transcript variant 3, mRNA. Full Length $758.93
ORF Sequence $195.75
NM_207034 Homo sapiens endothelin 3 (EDN3), transcript variant 4, mRNA. Full Length $771.11
ORF Sequence $207.93
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,P.S., Taly,A.B., Sinha,S., Gayathri,N., Rani,S.V., Chandak,G.R. and Kumar,A.
Journal Mol. Vis. 18, 2022-2032 (2012)
Title Autocrine endothelin-3/endothelin receptor B signaling maintains cellular and molecular properties of glioblastoma stem cells .
Author Liu,Y., Ye,F., Yamada,K., Tso,J.L., Zhang,Y., Nguyen,D.H., Dong,Q., Soto,H., Choe,J., Dembo,A., Wheeler,H., Eskin,A., Schmid,I., Yong,W.H., Mischel,P.S., Cloughesy,T.F., Kornblum,H.I., Nelson,S.F., Liau,L.M. and Tso,C.L.
Journal Mol. Cancer Res. 9 (12), 1668-1685 (2011)
Title Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk .
Author Ehret,G.B., Munroe,P.B., Rice,K.M., Bochud,M., Johnson,A.D., Chasman,D.I., Smith,A.V., Tobin,M.D., Verwoert,G.C., Hwang,S.J., Pihur,V., Vollenweider,P., O'Reilly,P.F., Amin,N., Bragg-Gresham,J.L., Teumer,A., Glazer,N.L., Launer,L., Zhao,J.H., Aulchenko,Y., Heath,S., Sober,S., Parsa,A., Luan,J., Arora,P., Dehghan,A., Zhang,F., Lucas,G., Hicks,A.A., Jackson,A.U., Peden,J.F., Tanaka,T., Wild,S.H., Rudan,I., Igl,W., Milaneschi,Y., Parker,A.N., Fava,C., Chambers,J.C., Fox,E.R., Kumari,M., Go,M.J., van der Harst,P., Kao,W.H., Sjogren,M., Vinay,D.G., Alexander,M., Tabara,Y., Shaw-Hawkins,S., Whincup,P.H., Liu,Y., Shi,G., Kuusisto,J., Tayo,B., Seielstad,M., Sim,X., Nguyen,K.D., Lehtimaki,T., Matullo,G., Wu,Y., Gaunt,T.R., Onland-Moret,N.C., Cooper,M.N., Platou,C.G., Org,E., Hardy,R., Dahgam,S., Palmen,J., Vitart,V., Braund,P.S., Kuznetsova,T., Uiterwaal,C.S., Adeyemo,A., Palmas,W., Campbell,H., Ludwig,B., Tomaszewski,M., Tzoulaki,I., Palmer,N.D., Aspelund,T., Garcia,M., Chang,Y.P., O'Connell,J.R., Steinle,N.I., Grobbee,D.E., Arking,D.E., Kardia,S.L., Morrison,A.C., Hernandez,D., Najjar,S., McArdle,W.L., Hadley,D., Brown,M.J., Connell,J.M., Hingorani,A.D., Day,I.N., Lawlor,D.A., Beilby,J.P., Lawrence,R.W., Clarke,R., Hopewell,J.C., Ongen,H., Dreisbach,A.W., Li,Y., Young,J.H., Bis,J.C., Kahonen,M., Viikari,J., Adair,L.S., Lee,N.R., Chen,M.H., Olden,M., Pattaro,C., Bolton,J.A., Kottgen,A., Bergmann,S., Mooser,V., Chaturvedi,N., Frayling,T.M., Islam,M., Jafar,T.H., Erdmann,J., Kulkarni,S.R., Bornstein,S.R., Grassler,J., Groop,L., Voight,B.F., Kettunen,J., Howard,P., Taylor,A., Guarrera,S., Ricceri,F., Emilsson,V., Plump,A., Barroso,I., Khaw,K.T., Weder,A.B., Hunt,S.C., Sun,Y.V., Bergman,R.N., Collins,F.S., Bonnycastle,L.L., Scott,L.J., Stringham,H.M., Peltonen,L., Perola,M., Vartiainen,E., Brand,S.M., Staessen,J.A., Wang,T.J., Burton,P.R., Soler Artigas,M., Dong,Y., Snieder,H., Wang,X., Zhu,H., Lohman,K.K., Rudock,M.E., Heckbert,S.R., Smith,N.L., Wiggins,K.L., Doumatey,A., Shriner,D., Veldre,G., Viigimaa,M., Kinra,S., Prabhakaran,D., Tripathy,V., Langefeld,C.D., Rosengren,A., Thelle,D.S., Corsi,A.M., Singleton,A., Forrester,T., Hilton,G., McKenzie,C.A., Salako,T., Iwai,N., Kita,Y., Ogihara,T., Ohkubo,T., Okamura,T., Ueshima,H., Umemura,S., Eyheramendy,S., Meitinger,T., Wichmann,H.E., Cho,Y.S., Kim,H.L., Lee,J.Y., Scott,J., Sehmi,J.S., Zhang,W., Hedblad,B., Nilsson,P., Smith,G.D., Wong,A., Narisu,N., Stancakova,A., Raffel,L.J., Yao,J., Kathiresan,S., O'Donnell,C.J., Schwartz,S.M., Ikram,M.A., Longstreth,W.T. Jr., Mosley,T.H., Seshadri,S., Shrine,N.R., Wain,L.V., Morken,M.A., Swift,A.J., Laitinen,J., Prokopenko,I., Zitting,P., Cooper,J.A., Humphries,S.E., Danesh,J., Rasheed,A., Goel,A., Hamsten,A., Watkins,H., Bakker,S.J., van Gilst,W.H., Janipalli,C.S., Mani,K.R., Yajnik,C.S., Hofman,A., Mattace-Raso,F.U., Oostra,B.A., Demirkan,A., Isaacs,A., Rivadeneira,F., Lakatta,E.G., Orru,M., Scuteri,A., Ala-Korpela,M., Kangas,A.J., Lyytikainen,L.P., Soininen,P., Tukiainen,T., Wurtz,P., Ong,R.T., Dorr,M., Kroemer,H.K., Volker,U., Volzke,H., Galan,P., Hercberg,S., Lathrop,M., Zelenika,D., Deloukas,P., Mangino,M., Spector,T.D., Zhai,G., Meschia,J.F., Nalls,M.A., Sharma,P., Terzic,J., Kumar,M.V., Denniff,M., Zukowska-Szczechowska,E., Wagenknecht,L.E., Fowkes,F.G., Charchar,F.J., Schwarz,P.E., Hayward,C., Guo,X., Rotimi,C., Bots,M.L., Brand,E., Samani,N.J., Polasek,O., Talmud,P.J., Nyberg,F., Kuh,D., Laan,M., Hveem,K., Palmer,L.J., van der Schouw,Y.T., Casas,J.P., Mohlke,K.L., Vineis,P., Raitakari,O., Ganesh,S.K., Wong,T.Y., Tai,E.S., Cooper,R.S., Laakso,M., Rao,D.C., Harris,T.B., Morris,R.W., Dominiczak,A.F., Kivimaki,M., Marmot,M.G., Miki,T., Saleheen,D., Chandak,G.R., Coresh,J., Navis,G., Salomaa,V., Han,B.G., Zhu,X., Kooner,J.S., Melander,O., Ridker,P.M., Bandinelli,S., Gyllensten,U.B., Wright,A.F., Wilson,J.F., Ferrucci,L., Farrall,M., Tuomilehto,J., Pramstaller,P.P., Elosua,R., Soranzo,N., Sijbrands,E.J., Altshuler,D., Loos,R.J., Shuldiner,A.R., Gieger,C., Meneton,P., Uitterlinden,A.G., Wareham,N.J., Gudnason,V., Rotter,J.I., Rettig,R., Uda,M., Strachan,D.P., Witteman,J.C., Hartikainen,A.L., Beckmann,J.S., Boerwinkle,E., Vasan,R.S., Boehnke,M., Larson,M.G., Jarvelin,M.R., Psaty,B.M., Abecasis,G.R., Chakravarti,A., Elliott,P., van Duijn,C.M., Newton-Cheh,C., Levy,D., Caulfield,M.J. and Johnson,T.
Journal Nature 478 (7367), 103-109 (2011)
Title Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure .
Author Wain,L.V., Verwoert,G.C., O'Reilly,P.F., Shi,G., Johnson,T., Johnson,A.D., Bochud,M., Rice,K.M., Henneman,P., Smith,A.V., Ehret,G.B., Amin,N., Larson,M.G., Mooser,V., Hadley,D., Dorr,M., Bis,J.C., Aspelund,T., Esko,T., Janssens,A.C., Zhao,J.H., Heath,S., Laan,M., Fu,J., Pistis,G., Luan,J., Arora,P., Lucas,G., Pirastu,N., Pichler,I., Jackson,A.U., Webster,R.J., Zhang,F., Peden,J.F., Schmidt,H., Tanaka,T., Campbell,H., Igl,W., Milaneschi,Y., Hottenga,J.J., Vitart,V., Chasman,D.I., Trompet,S., Bragg-Gresham,J.L., Alizadeh,B.Z., Chambers,J.C., Guo,X., Lehtimaki,T., Kuhnel,B., Lopez,L.M., Polasek,O., Boban,M., Nelson,C.P., Morrison,A.C., Pihur,V., Ganesh,S.K., Hofman,A., Kundu,S., Mattace-Raso,F.U., Rivadeneira,F., Sijbrands,E.J., Uitterlinden,A.G., Hwang,S.J., Vasan,R.S., Wang,T.J., Bergmann,S., Vollenweider,P., Waeber,G., Laitinen,J., Pouta,A., Zitting,P., McArdle,W.L., Kroemer,H.K., Volker,U., Volzke,H., Glazer,N.L., Taylor,K.D., Harris,T.B., Alavere,H., Haller,T., Keis,A., Tammesoo,M.L., Aulchenko,Y., Barroso,I., Khaw,K.T., Galan,P., Hercberg,S., Lathrop,M., Eyheramendy,S., Org,E., Sober,S., Lu,X., Nolte,I.M., Penninx,B.W., Corre,T., Masciullo,C., Sala,C., Groop,L., Voight,B.F., Melander,O., O'Donnell,C.J., Salomaa,V., d'Adamo,A.P., Fabretto,A., Faletra,F., Ulivi,S., Del Greco,F., Facheris,M., Collins,F.S., Bergman,R.N., Beilby,J.P., Hung,J., Musk,A.W., Mangino,M., Shin,S.Y., Soranzo,N., Watkins,H., Goel,A., Hamsten,A., Gider,P., Loitfelder,M., Zeginigg,M., Hernandez,D., Najjar,S.S., Navarro,P., Wild,S.H., Corsi,A.M., Singleton,A., de Geus,E.J., Willemsen,G., Parker,A.N., Rose,L.M., Buckley,B., Stott,D., Orru,M., Uda,M., van der Klauw,M.M., Zhang,W., Li,X., Scott,J., Chen,Y.D., Burke,G.L., Kahonen,M., Viikari,J., Doring,A., Meitinger,T., Davies,G., Starr,J.M., Emilsson,V., Plump,A., Lindeman,J.H., Hoen,P.A., Konig,I.R., Felix,J.F., Clarke,R., Hopewell,J.C., Ongen,H., Breteler,M., Debette,S., Destefano,A.L., Fornage,M., Mitchell,G.F., Smith,N.L., Holm,H., Stefansson,K., Thorleifsson,G., Thorsteinsdottir,U., Samani,N.J., Preuss,M., Rudan,I., Hayward,C., Deary,I.J., Wichmann,H.E., Raitakari,O.T., Palmas,W., Kooner,J.S., Stolk,R.P., Jukema,J.W., Wright,A.F., Boomsma,D.I., Bandinelli,S., Gyllensten,U.B., Wilson,J.F., Ferrucci,L., Schmidt,R., Farrall,M., Spector,T.D., Palmer,L.J., Tuomilehto,J., Pfeufer,A., Gasparini,P., Siscovick,D., Altshuler,D., Loos,R.J., Toniolo,D., Snieder,H., Gieger,C., Meneton,P., Wareham,N.J., Oostra,B.A., Metspalu,A., Launer,L., Rettig,R., Strachan,D.P., Beckmann,J.S., Witteman,J.C., Erdmann,J., van Dijk,K.W., Boerwinkle,E., Boehnke,M., Ridker,P.M., Jarvelin,M.R., Chakravarti,A., Abecasis,G.R., Gudnason,V., Newton-Cheh,C., Levy,D., Munroe,P.B., Psaty,B.M., Caulfield,M.J., Rao,D.C., Tobin,M.D., Elliott,P. and van Duijn,C.M.
Journal Nat. Genet. 43 (10), 1005-1011 (2011)
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,D.S., Davenport,A.P., Cameron,I.T. and Smith,S.K.
Journal J. Clin. Endocrinol. Metab. 75 (6), 1545-1549 (1992)
Title Solution structure of endothelin-3 determined using NMR spectroscopy .
Author Mills,R.G., O'Donoghue,S.I., Smith,R. and King,G.F.
Journal Biochemistry 31 (24), 5640-5645 (1992)
Title Effects of endothelins on signal transduction and proliferation in human melanocytes .
Author Yada,Y., Higuchi,K. and Imokawa,G.
Journal J. Biol. Chem. 266 (27), 18352-18357 (1991)
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,V.V., Loffler,C. and Hansmann,I.
Journal Genomics 10 (3), 840-841 (1991)

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