EDN3 - endothelin 3 Gene

Also Known as ET3; ET-3; WS4B; HSCR4; PPET3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1908

About EDN3

Cytogenetic location: 20q13.32 Genomic coordinates (GRCh38): 20:59,300,611-59,325,992 (from NCBI)

This gene has 8 transcripts (splice variants), 225 orthologues, 2 paralogues and is associated with 7 phenotypes. Biased expression in small intestine (RPKM 16.6), duodenum (RPKM 16.3) and 11 other tissues.

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. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

EDN3 Products (5)

mRNA	Protein	Name
NM_001302455.2	NP_001289384.1	endothelin-3 isoform 4 preproprotein
NM_001302456.2	NP_001289385.1	endothelin-3 isoform 5 preproprotein
NM_207032.3	NP_996915.1	endothelin-3 isoform 2 preproprotein
NM_207033.3	NP_996916.1	endothelin-3 isoform 3 preproprotein
NM_207034.3	NP_996917.1	endothelin-3 isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endothelin B receptor binding	IPI IPI: Inferred from physical interaction	1713452	GOA
enables hormone activity	IDA IDA: Inferred from direct assay	2649896	GOA

Biological Process GO Annotation	Evidence	References	Source
NOT involved in artery smooth muscle contraction	IDA IDA: Inferred from direct assay	8982507	GOA
involved in cell surface receptor signaling pathway	IDA IDA: Inferred from direct assay	1713452	GOA
involved in neutrophil chemotaxis	IDA IDA: Inferred from direct assay	9696419	GOA
involved in peptide hormone secretion	IDA IDA: Inferred from direct assay	10770212	GOA
involved in positive regulation of MAP kinase activity	IDA IDA: Inferred from direct assay	10770212	GOA
acts upstream of or within positive regulation of cell differentiation	IGI IGI: Inferred from genetic interaction	22897442	GOA
acts upstream of or within positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	22897442	GOA
involved in positive regulation of heart rate	IDA IDA: Inferred from direct assay	2649896	GOA
involved in positive regulation of hormone secretion	IDA IDA: Inferred from direct assay	10770212	GOA
involved in positive regulation of leukocyte chemotaxis	IDA IDA: Inferred from direct assay	9696419	GOA
involved in positive regulation of mitotic nuclear division	IDA IDA: Inferred from direct assay	10770212	GOA
acts upstream of or within regulation of gene expression	IGI IGI: Inferred from genetic interaction	22897442	GOA
involved in regulation of systemic arterial blood pressure by endothelin	IDA IDA: Inferred from direct assay	2649896	GOA
involved in vasoconstriction	IDA IDA: Inferred from direct assay	2649896	GOA
involved in vein smooth muscle contraction	IDA IDA: Inferred from direct assay	8982507	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	15691296	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EDN3 Protein Structure

Endothelin

0
100
200
238 a.a.

Protein Preferred Names	Protein Names
endothelin-3	preproendothelin-3

Related Diseases

Diseases	Alias
Waardenburg Syndrome, Type 4b	Waardenburg Syndrome Type 4b WS4B Waardenburg Syndrome Type Ivb Waardenburg Syndrome With Hirschsprung Disease Type 4b Waardenburg Syndrome, Type 4b, With Hirschsprung Disease Waardenburg Syndrome, Type Ivb Waardenburg Syndrome 4b Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Hirschsprung Disease 4	Hirschsprung Disease, Susceptibility To, 4 HSCR4 Hirschsprung Disease, Type 4
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Goldberg-Shprintzen Syndrome	Goldberg-Shprintzen Megacolon Syndrome GOSHS Megacolon-Microcephaly Syndrome
Megacolon	Dilatation Of Colon
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Waardenburg Syndrome, Type 2c	Waardenburg Syndrome Type 2c WS2C Waardenburg Syndrome, Type Iic Waardenburg Syndrome Type Iic
Tietz Albinism-Deafness Syndrome	Tietz Syndrome Albinism-Deafness Of Tietz Hypopigmentation/Deafness Of Tietz Tietze'S Syndrome TADS Costochondral Junction Syndrome Costochondritis Tietze Syndrome Hypopigmentation-Deafness Syndrome Costalchondritis Slipping Rib Syndrome Tietze'S Disease Chondropathia Tuberosa Albinism And Complete Nerve Deafness Tietz'S Syndrome Hypopigmentation-Hearing Loss Syndrome Costal Chondritis Abnormality Of The Costochondral Junction
Waardenburg Syndrome, Type 2b	Waardenburg Syndrome Type 2b WS2B Waardenburg Syndrome, Type Iib Waardenburg Syndrome Type Iib
Intestinal Obstruction	Inspissated Milk Syndrome Milk Curd Syndrome
Waardenburg Syndrome, Type 4c	Waardenburg Syndrome Type 4c WS4C Waardenburg Syndrome Type Ivc Waardenburg Syndrome With Hirschsprung Disease Type 4c Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc Waardenburg Syndrome 4c Hirschsprung Disease With Pigmentary Anomaly Shah-Waardenburg Syndrome Waardenburg-Shah Syndrome Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 3	Waardenburg Syndrome Type 3 Klein-Waardenburg Syndrome WS3 Waardenburg Syndrome With Upper Limb Anomalies Waardenburg Syndrome Type Iii Waardenburg Syndrome, Type Iii White Forelock Syndrome With Multiple Congenital Malformations Waardenburg Syndrome With Limb Anomalies Waardenburg Syndrome 3 White Forelock With Malformations Klein'S Syndrome
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Hepatorenal Syndrome	Hepato-Renal Syndrome Hepatorenal Failure Hrf - [Hepatorenal Failure] Hepatorenal Degeneration Hepatic Renal Syndrome Hepatic Renal Failure Renal Hepatic Failure Urohepatic Syndrome
Waardenburg Syndrome, Type 1	Waardenburg Syndrome Type 1 WS1 Waardenburg Syndrome Type I Waardenburg Syndrome With Dystopia Canthorum Waardenburg'S Syndrome Type 1 Waardenburg Syndrome 1 Waardenburg Syndrome, Type I Waardenburg Syndrome
Cochlear Disease	Cochlear Diseases
Central Hypoventilation Syndrome, Congenital, 1	Cchs CCHS1 Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease Central Hypoventilation Syndrome, Congenital Congenital Failure Of Autonomic Control Autonomic Control, Congenital Failure Of Ondine Curse, Congenital Ondine Curse Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Hypoventilation, Central, Syndrome, Congenital, Type 1 Congenital Central Hypoventilation Sleep Apnea, Central Central Alveolar Hypoventilation Syndrome Cchs With Hirschsprung Disease Congenital Central Alveolar Hypoventilation Syndrome Sleep-Related Respiratory Failure Hypoventilation
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Pcwh Syndrome PCWH Neurologic Waardenburg-Shah Syndrome Waardenburg-Shah Syndrome, Neurologic Variant Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease Ws4 Plus Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease Waardenburg-Shah Syndrome Neurologic Variant
Mandibulofacial Dysostosis With Alopecia	MFDA
Waardenburg Syndrome, Type 2d	Waardenburg Syndrome Type 2d WS2D Waardenburg Syndrome, Type Iid Waardenburg Syndrome Type Iid Waardenburg Syndrome 2d
Achalasia	Cardiospasm Achalasia Of Cardia Esophageal Achalasia Hypertensive Lower Esophageal Sphincter Idiopathic Achalasia Achalasia Cardia Idiopathic Achalasia Of Esophagus Primary Achalasia Achalasia Of Esophagus Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter Aperistalsis Of The Oesophagus Achalasia Of Oesophagus Oesophageal Achalasia Achalasia Nos Cardia Spasm Cardia Achalasia Oesophageal Cardiospasm Oesophagus Achalasia Reflex Cardiospasm
Waardenburg Syndrome, Type 2a	Waardenburg Syndrome Type 2a WS2A Waardenburg Syndrome, Type Iia Waardenburg Syndrome Without Dystopia Canthorum Ws2 Waardenburg Syndrome Type Iia Waardenburg Syndrome 2a
Waardenburg Syndrome, Type 2e	Waardenburg Syndrome Type 2 Waardenburg Syndrome Type 2e WS2E Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement Waardenburg Syndrome, Type Iie Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement Waardenburg Syndrome Type Iie Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation Ws2e, With Or Without Neurologic Involvement Ws2e With Or Without Neurological Involvement Ws 2 Ws Type 2 Ws2 Waardenburg Syndrome Type Ii Waardenburg Syndrome 2e Kallmann Syndrome And Deafness With Or Without Hypopigmentation Ws2e With Or Without Neurologic Involvement Waardenburg Syndrome Type 2e, Without Neurologic Involvement Ws-2
Constipation
Epilepsy, Familial Temporal Lobe, 6	ETL6 Familial Temporal Lobe Epilepsy 6
Piebald Trait	Piebaldism PBT Partial Albinism Albinoidism, Oculocutaneous, Autosomal Dominant
Mcleod Syndrome	Mcleod Neuroacanthocytosis Syndrome MLS X-Linked Mcleod Syndrome Mcleod Phenotype Neuroacanthocytosis, Mcleod Type Mcleod Syndrome With Or Without Chronic Granulomatous Disease MCLDS Mcleod Type Neuroacanthocytosis Mcleod Syndrome With Chronic Granulomatous Disease Neuroacanthocytosis Mcleod Type Blood Group Deletion Syndrome
Intracranial Berry Aneurysm	Familial Aneurysmal Subarachnoid Hemorrhage Familial Berry Aneurysm Familial Intracranial Saccular Aneurysm Saccular Cerebral Aneurysm Aneurysm, Intracranial Berry Aneurysmal Subarachnoid Hemorrhage Aneurysm, Intracranial Berry, 1
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Mongolian Spot	Mongolian Macula
Neuroacanthocytosis	Neuroacanthocytosis Syndrome
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Pulmonary Hypertension	Primary Pulmonary Hypertension Hypertension Pulmonary Hypertension, Pulmonary Hypertension, Pulmonary, Primary Idiopathic Pulmonary Hypertension Idiopathic Pulmonary Arterial Hypertension Pulmonary Htn - [Hypertension]
Rhabdomyosarcoma
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04165	EDN3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EDN3	VGNC	VGNC:56185
Macaca mulatta	EDN3	VGNC	VGNC:72158
Felis catus	EDN3	VGNC	VGNC:109563
Canis familiaris	EDN3	VGNC	VGNC:40201
Rattus norvegicus	EDN3	RGD	RGD:2534
Mus musculus	EDN3	MGD	MGI:95285
Others	EDN3	NCBI