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EDN3 endothelin 3 [Homo sapiens (human)]


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
NM_207032 Homo sapiens endothelin 3 (EDN3), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 TBD
NM_207033 Homo sapiens endothelin 3 (EDN3), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_207034 Homo sapiens endothelin 3 (EDN3), transcript variant 4, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 TBD
XM_005260312 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005260313 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_005260314 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006723734 PREDICTED: Homo sapiens endothelin 3 (EDN3), transcript variant X4, mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

Related Services

Gene Symbol EDN3
Entrez Gene ID 1908
Full Name endothelin 3
Synonyms ET-3, ET3, HSCR4, PPET3, WS4B
General protein information
Preferred Names
endothelin-3
Names
endothelin-3
preproendothelin-3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

20

20q13.2-q13.3

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].
Disorder

MIM: 131242

Waardenburg syndrome, type 4B, 613265 (3); Central hypoventilation

mRNA Protein Product Sequence Price Select
NM_000114, 46370058 NP_000105, 4557545 endothelin-3 isoform 1 preproprotein ORF Sequence $159.00
NM_207032, 46370059 NP_996915, 46370060 endothelin-3 isoform 2 preproprotein ORF Sequence $159.00
NM_207033, 46370061 NP_996916, 46370062 endothelin-3 isoform 3 preproprotein ORF Sequence $250.00
NM_207034, 46370063 NP_996917, 46370064 endothelin-3 isoform 1 preproprotein ORF Sequence $159.00
XM_005260312, 578835839 XP_005260369, 530417902 endothelin-3 isoform X1 ORF Sequence $300.00
XM_005260313, 578835840 XP_005260370, 530417904 endothelin-3 isoform X2 ORF Sequence $250.00
XM_005260314, 578835843 XP_005260371, 530417906 endothelin-3 isoform X3 ORF Sequence $250.00
XM_006723734, 578835841 XP_006723797, 578835842 endothelin-3 isoform X4 ORF Sequence $250.00
Pathway Interaction Database
endothelinpathwayEndothelins
Reactome
REACT_19184GPCR downstream signaling
REACT_18283G alpha (q) signalling events
REACT_14828Class A/1 (Rhodopsin-like receptors)
REACT_14797Signaling by GPCR
REACT_14819Peptide ligand-binding receptors
REACT_21340GPCR ligand binding
REACT_111102Signal Transduction
REACT_120966Gastrin-CREB signalling pathway via PKC and MAPK
Homo sapiens (human)EDN3NP_996915.1
Pan troglodytes (chimpanzee)EDN3XP_525373.2
Canis lupus familiaris (dog)EDN3NP_001002942.1
Bos taurus (cattle)EDN3NP_001095449.1
Mus musculus (house mouse)Edn3NP_031929.1
Rattus norvegicus (Norway rat)Edn3NP_001071118.1
Gallus gallus (chicken)EDN3XP_001231488.3
Process
IDNameEvidence
GO:0001755neural crest cell migrationIEA
GO:0002690positive regulation of leukocyte chemotaxisIDA
GO:0003100regulation of systemic arterial blood pressure by endothelinIDA
GO:0007165signal transductionTAS
GO:0007166cell surface receptor signaling pathwayIDA
GO:0007267cell-cell signalingTAS
GO:0007275multicellular organismal developmentTAS
GO:0008015blood circulationTAS
GO:0008284positive regulation of cell proliferationIEA
GO:0010460positive regulation of heart rateIDA
GO:0014824artery smooth muscle contractionIDA
GO:0014826vein smooth muscle contractionIDA
GO:0019229regulation of vasoconstrictionIEA
GO:0030072peptide hormone secretionIDA
GO:0030182neuron differentiationIEA
GO:0030318melanocyte differentiationIEA
GO:0030593neutrophil chemotaxisIDA
GO:0042310vasoconstrictionIDA
GO:0043406positive regulation of MAP kinase activityIDA
GO:0045840positive regulation of mitosisIDA
GO:0046887positive regulation of hormone secretionIDA
GO:0048016inositol phosphate-mediated signalingIDA
GO:0048070regulation of developmental pigmentationIEA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005615extracellular spaceIDA
Function
IDNameEvidence
GO:0005102receptor bindingTAS
GO:0005179hormone activityIDA
GeneCards EDN3
UniProt Q4FAT2, P14138
Vega OTTHUMG00000032867
MIM 131242
Ensembl ENSG00000124205
HGNC 3178
HPRD 00570

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EDN3 gene?

The EDN3 gene provides instructions for making a protein called endothelin 3. Proteins in the endothelin family are produced in various cells and tissues, where they are involved in the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division.

Endothelin 3 functions by interacting with another protein, endothelin receptor type B (produced from the EDNRB gene), on the surface of cells. During early development before birth, endothelin 3 and endothelin receptor type B together play an important role in neural crest cells. These cells migrate from the developing spinal cord to specific regions in the embryo, where they give rise to many different types of cells. In particular, endothelin 3 and its receptor are essential for the formation of nerves in the intestine (enteric nerves) and melanocytes. Melanocytes are cells that produce melanin, a pigment that contributes to skin, hair, and eye color. Melanin is also involved in the normal function of the inner ear.

Interactant

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