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EDN3 (endothelin 3)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1908
Gene nameGene Name - the full gene name approved by the HGNC.
Endothelin 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EDN3
SynonymsGene synonyms aliases
ET-3, ET3, HSCR4, PPET3, WS4B
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.32
SummarySummary of gene provided in NCBI Entrez Gene.
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 pre
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs11570344 A>-,AA Likely-pathogenic, pathogenic, benign-likely-benign, likely-benign Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs11570351 G>A Risk-factor, likely-benign Missense variant, coding sequence variant, 3 prime UTR variant, non coding transcript variant
rs74315384 G>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs74315385 C>A,T Pathogenic Stop gained, coding sequence variant, non coding transcript variant, synonymous variant
rs267606778 A>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT495210 hsa-miR-4668-3p PAR-CLIP 23708386
MIRT495208 hsa-miR-4282 PAR-CLIP 23708386
MIRT495209 hsa-miR-605-5p PAR-CLIP 23708386
MIRT495207 hsa-miR-3606-3p PAR-CLIP 23708386
MIRT495206 hsa-miR-513a-3p PAR-CLIP 23708386
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001755 Process Neural crest cell migration IEA
GO:0002690 Process Positive regulation of leukocyte chemotaxis IDA 9696419
GO:0003100 Process Regulation of systemic arterial blood pressure by endothelin IBA 21873635
GO:0003100 Process Regulation of systemic arterial blood pressure by endothelin IDA 2649896
GO:0005102 Function Signaling receptor binding TAS 8298278
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P14138
Protein name Endothelin-3 (ET-3) (Preproendothelin-3) (PPET3)
Protein function Endothelins are endothelium-derived vasoconstrictor peptides.
PDB 6IGK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00322 Endothelin
93 → 121
Endothelin family
 Repeat
Sequence 
MEPGLWLLFGLTVTSAAGFVPCSQSGDAGRRGVSQAPTAARSEGDCEETVAGPGEETVAG
PGEGTVAPTALQGPSPGSPGQEQAAEGAPEHHRSRRCTCFTYKDKECVYYCHLDIIWINT
PEQTVPYGLSNYRGSFRGKRSAGPLPGNLQLSHRPHLRCACVGRYDKACLHFCTQTLDVS
SNSRTAEKTDKEEEGKVEVKDQQSKQALDLHHPKLMPGSGLALAPSTCPRCLFQEGAP
Sequence length 238
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  cAMP signaling pathway
Neuroactive ligand-receptor interaction
Vascular smooth muscle contraction
Renin secretion 		  Peptide ligand-binding receptors
G alpha (q) signalling events
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Congenital central hypoventilation Congenital central hypoventilation rs587776626, rs1733878065, rs761018157, rs779557320, rs772448418, rs775006915, rs1733941453, rs73810366 9359047, 8696331
Haddad syndrome CCHS WITH HIRSCHSPRUNG DISEASE rs1297909281, rs587776626, rs1733941453, rs73810366 8696331
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease Hirschsprung Disease rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869 9359047, 8630502, 8630503, 8896568
Unknown
Disease name Disease term dbSNP ID References
Cardiovascular abnormalities Cardiovascular Abnormalities
Colonic aganglionosis Aganglionosis, Colonic, Aganglionosis, Rectosigmoid Colon 9359047, 8896568, 8630503, 8630502, 19764030, 8630502, 8630503, 8896568, 9359047
Congenital intestinal aganglionosis Congenital Intestinal Aganglionosis 8896568, 8630502, 8630503, 9359047
Dwarfism Dwarfism

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