CleftGeneDB-Search

Gene: EDN2

Basic information

Tag	Content
Uniprot ID	P20800; Q5T1R3;
Entrez ID	1907
Genbank protein ID	AAH34393.1; CAA38962.1; AAR89914.1; AAA52340.1; AAA52404.1; EAX07175.1;
Genbank nucleotide ID	NM_001302269.1; NM_001956.4;
Ensembl protein ID	ENSP00000361668
Ensembl nucleotide ID	ENSG00000127129
Gene name	Endothelin-2
Gene symbol	EDN2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Endothelins are endothelium-derived vasoconstrictor peptides.
Sequence	MVSVPTTWCS VALALLVALH EGKGQAAATL EQPASSSHAQ GTHLRLRRCS CSSWLDKECV 60 YFCHLDIIWV NTPEQTAPYG LGNPPRRRRR SLPRRCQCSS ARDPACATFC LRRPWTEAGA 120 VPSRKSPADV FQTGKTGATT GELLQRLRDI STVKSLFAKR QQEAMREPRS THSRWRKR 178

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	EDN2	319094	Q867A9		Bos taurus	Prediction	More>>
1:1 ortholog	EDN2	102181465	A0A452FW37		Capra hircus	Prediction	More>>
1:1 ortholog	EDN2	1907	P20800		Homo sapiens	Prediction	More>>
1:1 ortholog	Edn2	13615	P22389	CPO	Mus musculus	Publication	More>>
1:1 ortholog	EDN2		H2PYT1		Pan troglodytes	Prediction	More>>
1:1 ortholog	EDN2		A0A287A2W4		Sus scrofa	Prediction	More>>
1:1 ortholog	Edn2	24324	G3V771		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1160183209	p.Val2Asp	missense variant	-	NC_000001.11:g.41484597A>T	TOPMed
rs191375504	p.Val4Leu	missense variant	-	NC_000001.11:g.41484592C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs191375504	p.Val4Met	missense variant	-	NC_000001.11:g.41484592C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1438802470	p.Pro5Ser	missense variant	-	NC_000001.11:g.41484589G>A	gnomAD
rs777500644	p.Pro5Arg	missense variant	-	NC_000001.11:g.41484588G>C	ExAC,TOPMed,gnomAD
rs777500644	p.Pro5Leu	missense variant	-	NC_000001.11:g.41484588G>A	ExAC,TOPMed,gnomAD
rs1411035938	p.Trp8Leu	missense variant	-	NC_000001.11:g.41484579C>A	gnomAD
rs1372925226	p.Cys9Tyr	missense variant	-	NC_000001.11:g.41484576C>T	gnomAD
rs1174446794	p.Ser10Pro	missense variant	-	NC_000001.11:g.41484574A>G	gnomAD
rs201073770	p.Val11Ile	missense variant	-	NC_000001.11:g.41484571C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs55914947	p.Ala12Val	missense variant	-	NC_000001.11:g.41484567G>A	TOPMed,gnomAD
rs1182257425	p.Ala14Asp	missense variant	-	NC_000001.11:g.41484561G>T	gnomAD
rs1229789314	p.Ala14Ser	missense variant	-	NC_000001.11:g.41484562C>A	TOPMed
rs1235690373	p.Leu15Pro	missense variant	-	NC_000001.11:g.41484558A>G	gnomAD
rs767782625	p.Leu16Val	missense variant	-	NC_000001.11:g.41484556G>C	ExAC,gnomAD
rs751525706	p.Val17Met	missense variant	-	NC_000001.11:g.41484553C>T	ExAC,TOPMed,gnomAD
rs751525706	p.Val17Leu	missense variant	-	NC_000001.11:g.41484553C>A	ExAC,TOPMed,gnomAD
rs149831836	p.His20Arg	missense variant	-	NC_000001.11:g.41484543T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs922376128	p.Gly22Trp	missense variant	-	NC_000001.11:g.41484538C>A	TOPMed,gnomAD
rs922376128	p.Gly22Arg	missense variant	-	NC_000001.11:g.41484538C>T	TOPMed,gnomAD
rs1458425115	p.Lys23Asn	missense variant	-	NC_000001.11:g.41484199C>G	gnomAD
rs1347676531	p.Gly24Asp	missense variant	-	NC_000001.11:g.41484197C>T	gnomAD
rs1347676531	p.Gly24Val	missense variant	-	NC_000001.11:g.41484197C>A	gnomAD
rs1405932807	p.Gln32Ter	stop gained	-	NC_000001.11:g.41484174G>A	gnomAD
rs41269471	p.Ala34Val	missense variant	-	NC_000001.11:g.41484167G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1324427970	p.Ser35Pro	missense variant	-	NC_000001.11:g.41484165A>G	TOPMed
rs755097408	p.Ser36Leu	missense variant	-	NC_000001.11:g.41484161G>A	ExAC
rs751828380	p.Ser37Thr	missense variant	-	NC_000001.11:g.41484159A>T	ExAC,gnomAD
rs1039710418	p.His38Tyr	missense variant	-	NC_000001.11:g.41484156G>A	TOPMed,gnomAD
rs779966886	p.Ala39Val	missense variant	-	NC_000001.11:g.41484152G>A	ExAC,gnomAD
rs779966886	p.Ala39Gly	missense variant	-	NC_000001.11:g.41484152G>C	ExAC,gnomAD
rs1263821009	p.Thr42Ile	missense variant	-	NC_000001.11:g.41484143G>A	gnomAD
rs1256416467	p.His43Asn	missense variant	-	NC_000001.11:g.41484141G>T	TOPMed
rs758555144	p.Arg45Trp	missense variant	-	NC_000001.11:g.41484135G>A	ExAC,TOPMed,gnomAD
rs750954810	p.Arg45Gln	missense variant	-	NC_000001.11:g.41484134C>T	ExAC,gnomAD
rs926556784	p.Arg47Cys	missense variant	-	NC_000001.11:g.41484129G>A	TOPMed
rs765913154	p.Arg47His	missense variant	-	NC_000001.11:g.41484128C>T	ExAC,gnomAD
rs139814182	p.Arg48His	missense variant	-	NC_000001.11:g.41484125C>T	ESP,ExAC,TOPMed,gnomAD
rs1226757295	p.Arg48Cys	missense variant	-	NC_000001.11:g.41484126G>A	gnomAD
rs980626705	p.Ser50Phe	missense variant	-	NC_000001.11:g.41484119G>A	TOPMed,gnomAD
rs1365023065	p.Trp54Ter	stop gained	-	NC_000001.11:g.41484107C>T	gnomAD
rs1292475602	p.Trp54Cys	missense variant	-	NC_000001.11:g.41484106C>A	gnomAD
COSM4008000	p.Asp56Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41484101T>C	NCI-TCGA Cosmic
rs1200002823	p.Asp56Asn	missense variant	-	NC_000001.11:g.41484102C>T	TOPMed
rs141782070	p.Val60Phe	missense variant	-	NC_000001.11:g.41484090C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141782070	p.Val60Ile	missense variant	-	NC_000001.11:g.41484090C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1404895096	p.Tyr61Cys	missense variant	-	NC_000001.11:g.41484086T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp66His	missense variant	-	NC_000001.11:g.41484072C>G	NCI-TCGA
rs770321437	p.Ile67Leu	missense variant	-	NC_000001.11:g.41484069T>G	ExAC,gnomAD
rs770321437	p.Ile67Val	missense variant	-	NC_000001.11:g.41484069T>C	ExAC,gnomAD
rs201643440	p.Ile68Leu	missense variant	-	NC_000001.11:g.41484066T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201643440	p.Ile68Val	missense variant	-	NC_000001.11:g.41484066T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs748090585	p.Ile68Asn	missense variant	-	NC_000001.11:g.41484065A>T	ExAC,TOPMed,gnomAD
rs376284156	p.Thr72Ile	missense variant	-	NC_000001.11:g.41484053G>A	ESP,TOPMed,gnomAD
rs1350511975	p.Gln75Glu	missense variant	-	NC_000001.11:g.41482587G>C	gnomAD
rs200003277	p.Thr76Ile	missense variant	-	NC_000001.11:g.41482583G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3489656	p.Gly80Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482571C>T	NCI-TCGA Cosmic
rs1303208225	p.Gly80Ser	missense variant	-	NC_000001.11:g.41482572C>T	TOPMed,gnomAD
rs1470449905	p.Gly80Val	missense variant	-	NC_000001.11:g.41482571C>A	gnomAD
COSM1127013	p.Leu81Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482568A>T	NCI-TCGA Cosmic
rs761698280	p.Gly82Glu	missense variant	-	NC_000001.11:g.41482565C>T	ExAC,TOPMed,gnomAD
rs776678882	p.Asn83Thr	missense variant	-	NC_000001.11:g.41482562T>G	ExAC,gnomAD
rs768322245	p.Pro84Ser	missense variant	-	NC_000001.11:g.41482560G>A	ExAC,gnomAD
rs746888124	p.Pro84Leu	missense variant	-	NC_000001.11:g.41482559G>A	ExAC,TOPMed,gnomAD
rs746112557	p.Pro85Ser	missense variant	-	NC_000001.11:g.41482557G>A	ExAC,gnomAD
rs757449064	p.Arg87Leu	missense variant	-	NC_000001.11:g.41482550C>A	ExAC,TOPMed,gnomAD
rs757449064	p.Arg87His	missense variant	-	NC_000001.11:g.41482550C>T	ExAC,TOPMed,gnomAD
rs779091830	p.Arg87Cys	missense variant	-	NC_000001.11:g.41482551G>A	ExAC,TOPMed,gnomAD
COSM426274	p.Arg88Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482547C>G	NCI-TCGA Cosmic
rs200513885	p.Arg88Trp	missense variant	-	NC_000001.11:g.41482548G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs538985161	p.Arg88Gln	missense variant	-	NC_000001.11:g.41482547C>T	ExAC,gnomAD
rs757998837	p.Arg89His	missense variant	-	NC_000001.11:g.41482544C>T	ExAC,gnomAD
rs376618881	p.Arg89Cys	missense variant	-	NC_000001.11:g.41482545G>A	ESP,ExAC,TOPMed,gnomAD
rs543002523	p.Arg90His	missense variant	-	NC_000001.11:g.41482541C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs144539806	p.Arg90Cys	missense variant	-	NC_000001.11:g.41482542G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1386201260	p.Leu92Val	missense variant	-	NC_000001.11:g.41482536G>C	TOPMed
COSM3489654	p.Arg94Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41482529C>G	NCI-TCGA Cosmic
rs967704945	p.Arg95Cys	missense variant	-	NC_000001.11:g.41482527G>A	TOPMed
rs1454398358	p.Arg95His	missense variant	-	NC_000001.11:g.41482526C>T	gnomAD
rs1161877324	p.Gln97Pro	missense variant	-	NC_000001.11:g.41482520T>G	TOPMed
rs764024548	p.Cys98Arg	missense variant	-	NC_000001.11:g.41482518A>G	ExAC,TOPMed,gnomAD
rs1318791593	p.Ser99Phe	missense variant	-	NC_000001.11:g.41482514G>A	TOPMed,gnomAD
rs1318791593	p.Ser99Cys	missense variant	-	NC_000001.11:g.41482514G>C	TOPMed,gnomAD
rs760540746	p.Ser100Arg	missense variant	-	NC_000001.11:g.41482512T>G	ExAC,gnomAD
rs772020788	p.Ala101Asp	missense variant	-	NC_000001.11:g.41482508G>T	ExAC,gnomAD
rs996084776	p.Ala101Thr	missense variant	-	NC_000001.11:g.41482509C>T	TOPMed,gnomAD
rs554208821	p.Arg102Thr	missense variant	-	NC_000001.11:g.41482505C>G	1000Genomes,ExAC,gnomAD
rs554208821	p.Arg102Lys	missense variant	-	NC_000001.11:g.41482505C>T	1000Genomes,ExAC,gnomAD
rs1317112135	p.Asp103Asn	missense variant	-	NC_000001.11:g.41482503C>T	TOPMed
rs540846506	p.Asp103Ala	missense variant	-	NC_000001.11:g.41482502T>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro104His	missense variant	-	NC_000001.11:g.41482499G>T	NCI-TCGA
rs201905094	p.Ala105Ser	missense variant	-	NC_000001.11:g.41482497C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201905094	p.Ala105Thr	missense variant	-	NC_000001.11:g.41482497C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756588267	p.Cys106Ser	missense variant	-	NC_000001.11:g.41482493C>G	ExAC,TOPMed,gnomAD
rs781498204	p.Thr108Asn	missense variant	-	NC_000001.11:g.41482487G>T	ExAC,gnomAD
rs781498204	p.Thr108Ile	missense variant	-	NC_000001.11:g.41482487G>A	ExAC,gnomAD
rs1265994456	p.Arg112Ter	stop gained	-	NC_000001.11:g.41482476G>A	gnomAD
rs558455490	p.Arg112Gln	missense variant	-	NC_000001.11:g.41482475C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753329833	p.Arg113Ser	missense variant	-	NC_000001.11:g.41482471C>A	ExAC,TOPMed,gnomAD
rs1296580434	p.Pro114Ser	missense variant	-	NC_000001.11:g.41482470G>A	gnomAD
rs1434727733	p.Pro114Leu	missense variant	-	NC_000001.11:g.41482469G>A	gnomAD
rs759554381	p.Glu117Gln	missense variant	-	NC_000001.11:g.41481189C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala118Thr	missense variant	-	NC_000001.11:g.41481186C>T	NCI-TCGA
NCI-TCGA novel	p.Ala118Gly	missense variant	-	NC_000001.11:g.41481185G>C	NCI-TCGA
COSM3489653	p.Gly119Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41481183C>A	NCI-TCGA Cosmic
rs151334316	p.Gly119Arg	missense variant	-	NC_000001.11:g.41481183C>T	ESP,ExAC,TOPMed,gnomAD
rs151334316	p.Gly119Arg	missense variant	-	NC_000001.11:g.41481183C>G	ESP,ExAC,TOPMed,gnomAD
rs769894818	p.Ala120Thr	missense variant	-	NC_000001.11:g.41481180C>T	ExAC,gnomAD
rs573981830	p.Val121Ala	missense variant	-	NC_000001.11:g.41481176A>G	1000Genomes,ExAC,gnomAD
rs769091946	p.Pro122Ser	missense variant	-	NC_000001.11:g.41481174G>A	ExAC,TOPMed,gnomAD
rs369530496	p.Arg124Leu	missense variant	-	NC_000001.11:g.41481167C>A	ESP,ExAC,TOPMed,gnomAD
rs747534812	p.Arg124Trp	missense variant	-	NC_000001.11:g.41481168G>A	ExAC,TOPMed,gnomAD
rs369530496	p.Arg124Gln	missense variant	-	NC_000001.11:g.41481167C>T	ESP,ExAC,TOPMed,gnomAD
rs1348667164	p.Ser126Phe	missense variant	-	NC_000001.11:g.41481161G>A	gnomAD
rs772359389	p.Pro127Ser	missense variant	-	NC_000001.11:g.41481159G>A	ExAC,gnomAD
rs1443489988	p.Ala128Glu	missense variant	-	NC_000001.11:g.41481155G>T	gnomAD
rs537422972	p.Asp129Glu	missense variant	-	NC_000001.11:g.41481151G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs199637889	p.Val130Leu	missense variant	-	NC_000001.11:g.41481150C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs199637889	p.Val130Met	missense variant	-	NC_000001.11:g.41481150C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1413595404	p.Phe131Leu	missense variant	-	NC_000001.11:g.41481145G>C	gnomAD
rs1366057213	p.Phe131Ser	missense variant	-	NC_000001.11:g.41481146A>G	TOPMed,gnomAD
rs752192367	p.Thr133Ser	missense variant	-	NC_000001.11:g.41481140G>C	ExAC,gnomAD
rs149196973	p.Thr133Ala	missense variant	-	NC_000001.11:g.41481141T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780865794	p.Gly134Ala	missense variant	-	NC_000001.11:g.41481137C>G	ExAC,TOPMed,gnomAD
rs780865794	p.Gly134Val	missense variant	-	NC_000001.11:g.41481137C>A	ExAC,TOPMed,gnomAD
rs1197957411	p.Gly137Arg	missense variant	-	NC_000001.11:g.41481129C>G	TOPMed
rs1471119412	p.Ala138Thr	missense variant	-	NC_000001.11:g.41481126C>T	gnomAD
rs946505486	p.Thr139Ser	missense variant	-	NC_000001.11:g.41481123T>A	TOPMed,gnomAD
rs946505486	p.Thr139Ala	missense variant	-	NC_000001.11:g.41481123T>C	TOPMed,gnomAD
rs373524087	p.Thr140Ala	missense variant	-	NC_000001.11:g.41481120T>C	TOPMed,gnomAD
rs200548746	p.Thr140Ile	missense variant	-	NC_000001.11:g.41481119G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs539100058	p.Gly141Arg	missense variant	-	NC_000001.11:g.41481117C>T	1000Genomes,ExAC,gnomAD
rs376249785	p.Gly141Glu	missense variant	-	NC_000001.11:g.41481116C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly141Ter	stop gained	-	NC_000001.11:g.41481117C>A	NCI-TCGA
rs1327181818	p.Leu144Ile	missense variant	-	NC_000001.11:g.41481108G>T	gnomAD
rs1224892187	p.Arg146Ser	missense variant	-	NC_000001.11:g.41481100C>A	gnomAD
rs145939049	p.Asp149Glu	missense variant	-	NC_000001.11:g.41479499G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767848243	p.Asp149Asn	missense variant	-	NC_000001.11:g.41479501C>T	ExAC,gnomAD
rs760106384	p.Asp149Gly	missense variant	-	NC_000001.11:g.41479500T>C	ExAC,TOPMed,gnomAD
rs747772550	p.Ile150Ser	missense variant	-	NC_000001.11:g.41479497A>C	ExAC,gnomAD
rs139181275	p.Ser151Tyr	missense variant	-	NC_000001.11:g.41479494G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768268158	p.Thr152Ile	missense variant	-	NC_000001.11:g.41479491G>A	ExAC,gnomAD
rs1430261693	p.Val153Asp	missense variant	-	NC_000001.11:g.41479488A>T	TOPMed,gnomAD
rs746585275	p.Ser155Arg	missense variant	-	NC_000001.11:g.41479481G>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe157LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.41479478G>-	NCI-TCGA
COSM909558	p.Lys159Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.41479471T>C	NCI-TCGA Cosmic
rs149418801	p.Arg160Ter	stop gained	-	NC_000001.11:g.41479468G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758218979	p.Arg160Gln	missense variant	-	NC_000001.11:g.41479467C>T	ExAC,TOPMed,gnomAD
rs757089517	p.Gln162His	missense variant	-	NC_000001.11:g.41479460C>G	ExAC
rs778540509	p.Gln162Ter	stop gained	-	NC_000001.11:g.41479462G>A	ExAC,TOPMed,gnomAD
rs778540509	p.Gln162Glu	missense variant	-	NC_000001.11:g.41479462G>C	ExAC,TOPMed,gnomAD
rs754042776	p.Glu163Gly	missense variant	-	NC_000001.11:g.41479458T>C	ExAC,gnomAD
rs778033191	p.Ala164Val	missense variant	-	NC_000001.11:g.41479455G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala164Asp	missense variant	-	NC_000001.11:g.41479455G>T	NCI-TCGA
rs1448633590	p.Met165Thr	missense variant	-	NC_000001.11:g.41479452A>G	TOPMed
rs1256478653	p.Met165Leu	missense variant	-	NC_000001.11:g.41479453T>A	gnomAD
rs764912588	p.Arg166Trp	missense variant	-	NC_000001.11:g.41479450G>A	ExAC,gnomAD
rs181076869	p.Arg166Gln	missense variant	-	NC_000001.11:g.41479449C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113626781	p.Glu167Lys	missense variant	-	NC_000001.11:g.41479447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113626781	p.Glu167Ter	stop gained	-	NC_000001.11:g.41479447C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113626781	p.Glu167Gln	missense variant	-	NC_000001.11:g.41479447C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs966145424	p.Pro168Thr	missense variant	-	NC_000001.11:g.41479444G>T	TOPMed
rs11572371	p.Pro168Leu	missense variant	-	NC_000001.11:g.41479443G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754563700	p.Arg169Pro	missense variant	-	NC_000001.11:g.41479440C>G	TOPMed,gnomAD
rs754563700	p.Arg169Gln	missense variant	-	NC_000001.11:g.41479440C>T	TOPMed,gnomAD
rs776419313	p.Arg169Trp	missense variant	-	NC_000001.11:g.41479441G>A	ExAC,TOPMed,gnomAD
rs1234892419	p.Thr171Ile	missense variant	-	NC_000001.11:g.41479434G>A	TOPMed,gnomAD
rs768364381	p.His172Leu	missense variant	-	NC_000001.11:g.41479431T>A	ExAC,gnomAD
rs760398482	p.Ser173Ala	missense variant	-	NC_000001.11:g.41479429A>C	ExAC,gnomAD
rs774820387	p.Ser173Phe	missense variant	-	NC_000001.11:g.41479428G>A	ExAC,gnomAD
rs1161860646	p.Arg174Ser	missense variant	-	NC_000001.11:g.41479424C>G	gnomAD
rs771652257	p.Trp175Arg	missense variant	-	NC_000001.11:g.41479423A>G	ExAC,gnomAD
rs745767820	p.Trp175Ter	stop gained	-	NC_000001.11:g.41479422C>T	ExAC,gnomAD
rs1342015109	p.Arg176Ser	missense variant	-	NC_000001.11:g.41479418C>G	gnomAD
rs778877517	p.Arg176Lys	missense variant	-	NC_000001.11:g.41479419C>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003130	Anoxia	phenotype	LHGDN
C0004238	Atrial Fibrillation	disease	BEFREE;LHGDN
C0007102	Malignant tumor of colon	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007194	Hypertrophic Cardiomyopathy	disease	BEFREE;LHGDN
C0007222	Cardiovascular Diseases	group	BEFREE;LHGDN
C0017601	Glaucoma	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE
C0020649	Hypotension	phenotype	CTD_human
C0027051	Myocardial Infarction	disease	RGD
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0042373	Vascular Diseases	group	BEFREE
C0085580	Essential Hypertension	disease	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0202236	Triglycerides measurement	phenotype	GWASDB
C0428977	Bradycardia	phenotype	CTD_human
C0699790	Colon Carcinoma	disease	BEFREE
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1998028	Photoreceptor degeneration	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005179	hormone activity	IDA
GO:0031708	endothelin B receptor binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001516	prostaglandin biosynthetic process	IDA
GO:0001659	temperature homeostasis	IEA
GO:0002690	positive regulation of leukocyte chemotaxis	IDA
GO:0003058	hormonal regulation of the force of heart contraction	TAS
GO:0003099	positive regulation of the force of heart contraction by chemical signal	TAS
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IDA
GO:0007166	cell surface receptor signaling pathway	IC
GO:0007186	G protein-coupled receptor signaling pathway	TAS
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA
GO:0008284	positive regulation of cell population proliferation	IDA
GO:0010460	positive regulation of heart rate	IDA
GO:0014824	artery smooth muscle contraction	IDA
GO:0014826	vein smooth muscle contraction	IDA
GO:0019221	cytokine-mediated signaling pathway	IDA
GO:0019229	regulation of vasoconstriction	IEA
GO:0019722	calcium-mediated signaling	IDA
GO:0030593	neutrophil chemotaxis	IDA
GO:0042116	macrophage activation	IDA
GO:0042310	vasoconstriction	IDA
GO:0045987	positive regulation of smooth muscle contraction	IEA
GO:0048016	inositol phosphate-mediated signaling	IDA
GO:0048246	macrophage chemotaxis	IDA
GO:0048286	lung alveolus development	IEA
GO:0060585	positive regulation of prostaglandin-endoperoxide synthase activity	IMP
GO:0097009	energy homeostasis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IDA
GO:0005623	cell	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)	TAS
R-HSA-375276	Peptide ligand-binding receptors	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-416476	G alpha (q) signalling events	TAS
R-HSA-500792	GPCR ligand binding	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [EDN2 protein results in increased phosphorylation of MAPK1 protein]	12207323
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [EDN2 protein results in increased phosphorylation of MAPK3 protein]	12207323
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of EDN2 mRNA	19114083
C496492	abrine	abrine results in increased expression of EDN2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of EDN2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of EDN2 mRNA	17562736
D000447	Aldehydes	Aldehydes results in increased expression of EDN2 mRNA	25014914
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of EDN2 mRNA	16483693
D001151	Arsenic	Arsenic results in increased expression of EDN2 mRNA	11134558
C547126	AZM551248	AZM551248 results in decreased expression of EDN2 mRNA	22323515
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of EDN2 mRNA	29950665
C030935	benz(a)anthracene	benz(a)anthracene results in decreased expression of EDN2 mRNA	23656968
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to EDN2 promoter]	19654925
C006780	bisphenol A	bisphenol A affects the expression of EDN2 mRNA	20170705
C006780	bisphenol A	bisphenol A results in increased expression of EDN2 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased expression of EDN2 mRNA	26079696
D002104	Cadmium	Cadmium promotes the reaction [EDN2 protein results in increased metabolism of Phosphatidylinositols]	9439784
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of EDN2 mRNA	12160620
D002118	Calcium	EDN2 protein affects the localization of and affects the abundance of Calcium	11425647
D002118	Calcium	EDN2 protein results in increased uptake of Calcium	11425647
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of EDN2 mRNA	16644059
C093373	cariporide	cariporide inhibits the reaction [EDN2 protein results in increased uptake of Sodium]	15681704
D002945	Cisplatin	Folic Acid affects the reaction [Cisplatin affects the expression of EDN2 mRNA]	16898872
D003035	Cobalt	[tungsten carbide binds to Cobalt] which results in increased expression of EDN2 mRNA	20105288
C018021	cobaltous chloride	cobaltous chloride results in increased expression of EDN2 mRNA	20105288
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of EDN2 mRNA	15948191
C018021	cobaltous chloride	cobaltous chloride results in increased expression of EDN2 mRNA	15948191
C060728	cobalt oxide	cobalt oxide analog results in increased expression of EDN2 mRNA	24821434
D003345	Corticosterone	EDN2 results in increased secretion of Corticosterone	1659878
D016572	Cyclosporine	Cyclosporine results in decreased expression of EDN2 mRNA	20106945
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) results in decreased activity of EDN2 protein	15681704
C072247	cyclo(Trp-Asp-Pro-Val-Leu)	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [EDN2 protein results in increased metabolism of Phosphatidylinositols]	9439784
D016264	Dextran Sulfate	Dextran Sulfate results in increased expression of EDN2 protein	16216902
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of EDN2 mRNA	29950665
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide results in decreased expression of EDN2 mRNA	15619356
D004958	Estradiol	Estradiol affects the expression of EDN2 mRNA	25321415
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of EDN2 mRNA	30165855
D004958	Estradiol	Estradiol results in decreased expression of EDN2 mRNA	20106945
D004958	Estradiol	Estradiol results in increased expression of EDN2 mRNA	19153601
D004958	Estradiol	Estradiol results in decreased expression of EDN2 mRNA	19484750
D000431	Ethanol	Ethanol results in increased expression of EDN2 mRNA	12193144
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of EDN2 mRNA	20170705; 26865667;
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of EDN2 mRNA	18936297
D005492	Folic Acid	Folic Acid affects the reaction [Cisplatin affects the expression of EDN2 mRNA]	16898872
C056507	gemcitabine	gemcitabine results in decreased expression of EDN2 mRNA	17039268
D019833	Genistein	Genistein results in decreased expression of EDN2 mRNA	16399490; 26865667;
C031927	hydroquinone	hydroquinone results in decreased expression of EDN2 mRNA	31256213
C029891	lead chloride	lead chloride results in increased secretion of EDN2 protein	15915659
D008775	Methylprednisolone	Methylprednisolone results in decreased expression of EDN2 protein	14688695
D015735	Mifepristone	Mifepristone results in decreased expression of EDN2 mRNA	25972201
C031721	naphthalene	naphthalene results in decreased expression of EDN2 mRNA	18757308
C022838	nickel chloride	nickel chloride results in increased expression of EDN2 mRNA	21455298
D010100	Oxygen	Oxygen deficiency results in increased expression of EDN2 mRNA	25203536
D010100	Oxygen	Oxygen results in increased expression of EDN2 mRNA	25203536
D010100	Oxygen	Oxygen results in increased expression of EDN2 protein	25203536
C046012	pentanal	pentanal results in increased expression of EDN2 mRNA	26079696
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of EDN2 mRNA	23602845
D010716	Phosphatidylinositols	Cadmium promotes the reaction [EDN2 protein results in increased metabolism of Phosphatidylinositols]	9439784
D010716	Phosphatidylinositols	cyclo(Trp-Asp-Pro-Val-Leu) inhibits the reaction [EDN2 protein results in increased metabolism of Phosphatidylinositols]	9439784
D010716	Phosphatidylinositols	EDN2 protein results in increased metabolism of Phosphatidylinositols	9439784
C006253	pirinixic acid	pirinixic acid results in decreased expression of EDN2 mRNA	17426115
D010936	Plant Extracts	Plant Extracts results in decreased expression of EDN2 mRNA	23557933
C005556	propionaldehyde	propionaldehyde results in increased expression of EDN2 mRNA	26079696
D000077185	Resveratrol	Resveratrol results in increased expression of EDN2 mRNA	25888808
D012964	Sodium	cariporide inhibits the reaction [EDN2 protein results in increased uptake of Sodium]	15681704
D012964	Sodium	EDN2 protein results in increased uptake of Sodium	15681704
C557331	TAK-875	TAK-875 results in increased expression of EDN2 mRNA	30243991
C061133	tamibarotene	tamibarotene results in increased expression of EDN2 mRNA	15498508
C009495	titanium dioxide	titanium dioxide affects the expression of EDN2 mRNA	27760801
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in increased expression of EDN2 mRNA	29950665
D014212	Tretinoin	Tretinoin results in increased expression of EDN2 mRNA	15498508
C002802	tungsten carbide	[tungsten carbide binds to Cobalt] which results in increased expression of EDN2 mRNA	20105288
D014580	Ursodeoxycholic Acid	Ursodeoxycholic Acid results in decreased expression of EDN2 protein	15691296
D014635	Valproic Acid	Valproic Acid results in increased methylation of EDN2 gene	29154799

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0165	Cleavage on pair of basic residues
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0838	Vasoactive
KW-0839	Vasoconstrictor

Interpro

InterPro ID	InterPro Term
IPR020475	Endothelin
IPR019764	Endothelin_toxin_CS
IPR001928	Endothln-like_toxin
IPR015658	ET-2

PROSITE

PROSITE ID	PROSITE Term
PS00270	ENDOTHELIN

Pfam

Pfam ID	Pfam Term
PF00322	Endothelin

Gene: EDN2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-miRNA interaction