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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EDN3 Gene

protein-coding GIFtS: 67
GCID: GC20P057875

endothelin 3

Explore 67 diseases affiliated with
EDN3 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Endothelin 3¹ ²		WS4B² ⁵
ET3¹ ²		Endothelin-3¹
ET-3² ³		Preproendothelin-3³
PPET3² ³		Preproendothelin-3³
HSCR4² ⁵

External Ids:	HGNC: 3178¹	Entrez Gene: 1908²	Ensembl: ENSG00000124205⁷	OMIM: 131242⁵	UniProtKB: P14138³

Export aliases for EDN3 gene to outside databases

Previous GC identifers: GC20P057603 GC20P058513 GC20P058560 GC20P057308 GC20P054663

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for EDN3:

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)

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138

Function: Endothelins are endothelium-derived vasoconstrictor peptides

summary for EDN3:

The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are

known to exist, ET-1, ET-2 and ET-3, and two distinct endothelin receptors have so far been cloned in

mammals, classified as ETA and ETB receptors. Endothelin receptors are widely expressed in all tissues,

which is consistent with their physiological role as vasoactive peptides. They are also localized to

non-vascular structures including epithelial cells, glia and neurons. The principle physiological role of

endothelin receptors is the maintenance of vascular tone. They also have co-mitogenic activity, potentiating

the effects of other growth factors such as PDGF.

Gene Wiki entry for EDN3 (Endothelin 3)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EDN3 gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EDN3 promoter sequence

Search SABiosciences Chromatin IP Primers for EDN3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EDN3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.2-q13.3 Ensembl cytogenetic band: 20q13.32 HGNC cytogenetic band: 20q13.2-q13.3

EDN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDN3 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P057875: view genomic region (about GC identifiers)

Start:	57,875,482 bp from pter	End:	57,901,047 bp from pter
Size:	25,566 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138 (See protein sequence)

Recommended Name: Endothelin-3 precursor

Size: 238 amino acids; 25454 Da

Subcellular location: Secreted

Sequence caution: Sequence=AAR16083.1; Type=Erroneous gene model prediction;

Secondary accessions: E1P5I5 Q03229 Q7Z6D2 Q9UGT7

Alternative splicing: 3 isoforms: P14138-1 P14138-2 P14138-3

Explore the universe of human proteins at neXtProt for EDN3: NX_P14138

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P14138

EDN3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_000105.1 NP_996915.1 NP_996916.1 NP_996917.1

ENSEMBL proteins:

ENSP00000337128 ENSP00000311854 ENSP00000360064 ENSP00000379015 ENSP00000360067

Reactome Protein details: P14138
Human Recombinant Protein Products:

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	Novus Biologicals EDN3 Protein Novus Biologicals EDN3 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for EDN3
	Uscn Proteins for EDN3

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	15691296
GO:0005625	soluble fraction	--	--

EDN3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for EDN3

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

EDN3 for domains About GeneDecksing

3 InterPro domains/families:

IPR001928 Endothln-like_toxin

IPR020475 Bibrotoxin/Sarafotoxin-D

IPR019764 Endothelin_toxin_CS

Graphical View of Domain Structure for InterPro Entry P14138

ProtoNet protein and cluster: P14138

2 Blocks protein families:

IPB003641 Endothelin

IPB003642 Sarafotoxin/bibrotoxin

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138

Similarity: Belongs to the endothelin/sarafotoxin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138

Function: Endothelins are endothelium-derived vasoconstrictor peptides

Genatlas biochemistry entry for EDN3:

endothelin 3 (vaso-constrictor/pressor peptide),murine lethal spotting homologous

miRNA Products:		OriGene 3'-UTR Clone (see all 4): EDN3 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EDN3
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		hsa-miR-4303 hsa-miR-520d-5p hsa-miR-450b-3p hsa-miR-4314 hsa-miR-942 hsa-miR-513b hsa-miR-518a-5p hsa-miR-524-5p

		SwitchGear 3'UTR luciferase reporter plasmid: EDN3 3' UTR sequence

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Gene Editing
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DNA2.0 Custom Protein Engineering Service for EDN3

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDN3

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005102	receptor binding	TAS	8298278
GO:0005179	hormone activity	IDA	2649896

EDN3 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for EDN3:

Increased G1 DNA content

Animal Models:
Mouse knock-out Edn3^tm1Ywa for EDN3
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Edn3):

behavior/neurological	digestive/alimentary	embryogenesis	integument	mortality/aging
nervous system	pigmentation

EDN3 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Class A/1 (Rhodopsin-like receptors)

	Class A/1 (Rhodopsin-like receptors)	1.00			Peptide ligand-binding receptors	0.61
	GPCR ligand binding	0.75

Signaling by GPCR

	Signaling by GPCR	1.00			Signal Transduction	0.56
	GPCR downstream signaling	0.89

G alpha (q) signalling events

G alpha (q) signalling events

1.00

Gastrin-CREB signalling pathway via PKC and MAPK

0.90

Development Angiotensin activation of ERK

Development EDNRB signaling

0.54

Development_EDNRB signaling

0.54

Endothelins

Endothelins

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for EDN3

Development EDNRB signaling

1 GeneGo (Thomson Reuters) Pathway for EDN3

Development EDNRB signaling

1 BioSystems Pathway for EDN3

Endothelins

5/8 Reactome Pathways for EDN3 (see all 8)

	GPCR downstream signaling
	Peptide ligand-binding receptors
	Gastrin-CREB signalling pathway via PKC and MAPK
	Signaling by GPCR
	GPCR ligand binding

EDN3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for EDN3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/126 Interacting proteins for EDN3 (P14138³ ENSP00000337128⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 126)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTSE	P14091³, ENSP00000350911⁴	I2D: score=1 STRING: ENSP00000350911
EDNRB	P24530³, ENSP00000335311⁴	I2D: score=1 STRING: ENSP00000335311
KEL	P23276³, ENSP00000347409⁴	I2D: score=1 STRING: ENSP00000347409
CMA1	P23946³, ENSP00000250378⁴	I2D: score=1 STRING: ENSP00000250378
EDNRA	P25101³, ENSP00000315011⁴	I2D: score=1 STRING: ENSP00000315011

About this table

Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (see all 26): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001755	neural crest cell migration	IEA	--
GO:0002690	positive regulation of leukocyte chemotaxis	IDA	9696419
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IDA	2649896
GO:0007165	signal transduction	TAS	8298278
GO:0007166	cell surface receptor signaling pathway	IDA	1713452

EDN3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

EDN3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for EDN3 available from Tocris Bioscience About this table

Compound	Action	CAS #
BMS 182874 hydrochloride	Highly selective, orally active non-peptide ETA antagonist	[153042-42-3]
BQ 788 sodium salt	Selective ETB antagonist	[156161-89-6]
IRL-1620	Highly selective ETB agonist	[142569-99-1]
FR 139317	Highly potent, selective ETA antagonist	[142375-60-8]
BQ-123	Selective ETA antagonist	[136553-81-6]

10/84 Novoseek chemical compound relationships for EDN3 gene (see all 84) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sarafotoxin	95.2	130	2282471 (5), 7965709 (3), 9124371 (3), 1848560 (2) (see all 86)
bq123	92.3	28	8004404 (3), 7952888 (2), 8181477 (2), 8041764 (1) (see all 18)
fr139317	89.9	5	9595416 (1), 9440503 (1), 9831924 (1), 7965709 (1)
bq 3020	85.8	2	8473300 (1), 8538918 (1)
phosphoramidon	85.3	23	1504719 (5), 8341132 (3), 8449237 (2), 7510007 (2) (see all 13)
bq788	84.8	10	9595416 (2), 9592035 (1), 8904635 (1), 7616437 (1) (see all 8)
irl 1620	83.2	7	8473300 (1), 7616437 (1), 9440503 (1), 8568666 (1) (see all 7)
pd 142893	78.7	4	7616437 (1), 8786643 (1), 9272381 (1), 8216314 (1)
bq 485	72.9	1	9870082 (1)
thiorphan	67.5	2	8825361 (1), 7797512 (1)

Search CenterWatch for drugs/clinical trials and news about EDN3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for EDN3 gene (4 alternative transcripts):

NM_000114.2 NM_207032.1 NM_207033.1 NM_207034.1

Unigene Cluster for EDN3:

Endothelin 3

Hs.1408 [show with all ESTs]

Unigene Representative Sequence: BC053866

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000337938(uc002yap.3 uc002yaq.3 uc002yas.3) ENST00000311585(uc002yar.3)

ENST00000371025 ENST00000395654 ENST00000371028(uc002yao.1)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EDN3
		8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate EDN3 (see all 9):
		hsa-miR-4303 hsa-miR-520d-5p hsa-miR-450b-3p hsa-miR-4314 hsa-miR-942 hsa-miR-513b hsa-miR-518a-5p hsa-miR-524-5p

		SwitchGear 3'UTR luciferase reporter plasmid: EDN3 3' UTR sequence

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Additional cDNA sequence:

BC008876.2 BC053866.1 BT007085.1 DQ096281.1 J05081.1 S50864.1 S50866.1 X52001.1

5 DOTS entries:

DT.114182 DT.100748839 DT.40271247 DT.97802238 DT.97766026

24/64 AceView cDNA sequences (see all 64):

BX099047 NM_207033 BM672979 NM_000114 NM_207034 BM663176 CD723234 BM505488

BC053866 X52001 W96123 S50866 W96122 BC008876 NM_207032 BT007085

CK905827 AA700198 BF305608 T67005 BG995148 BM706680 W60669 BM686803

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for EDN3 About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d
SP1:															-
SP2:
SP3:													-		-
SP4:													-		-

ECgene alternative splicing isoforms for EDN3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

EDN3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGAAATGAA

About this image

EDN3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Bone

Zeugopod Epiphyseal End

Bone

Zeugopod Growth Plate

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Beating cell clusters (Spontaneous differen...)

Alveolar type II cells (Derivation of mature...)

Lung

See EDN3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EDN3

SOURCE GeneReport for Unigene cluster: Hs.1408

UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138

Tissue specificity: Expressed in trophoblasts and placental stem villi vessels, but not in cultured placental smooth

muscle cells

SABiosciences Custom PCR Arrays for EDN3

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDN3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for EDN3 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Edn3^{1 , 5}	endothelin 3^{1, 5}	78.02(n)¹ 69.19(a)¹		2 (98.10 cM)⁵ 13616¹ NM_007903.3¹ NP_031929.1¹ 174760619⁵
chicken (Gallus gallus)	Aves	EDN3¹	endothelin 3	57.98(n) 47.88(a)		768509 XM_001231487.2 XP_001231488.2
lizard (Anolis carolinensis)	Reptilia	EDN3⁶	--	72(a)	1 ↔ 1	GL343569.1(56952-119638)
zebrafish (Danio rerio)	Actinopterygii	edn3b¹	endothelin 3b	48.78(n) 42.28(a)		100148183 XM_001919551.1 XP_001919586.1

ENSEMBL Gene Tree for EDN3 (if available)
TreeFam Gene Tree for EDN3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for EDN3 gene

EDN2² EDN1²

2 SIMAP similar genes for EDN3 using alignment to 3 protein entries: EDN3_HUMAN (see all proteins):

EDN1 EDN2

EDN3 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74315385^1,2	C,	pathogenic	58796251(+)	`GCCTGA/C/TCTGCA`	12	* C	stg¹ syn¹		0	--	--	--	--
rs74315384^1,2	C	pathogenic	58796282(+)	`GCGCTG/TCGCTT`	8	C F	mis¹		0	--	--	--	--
rs11570245^1,2	C,	--	54660910(+)	`GAAAAG/CAGACC`	4	--	us2k¹ trp³		1		NS	168
rs11570246^1,2	C,F,	--	54660935(+)	`TTGACC/GCTTCC`	4	--	us2k¹ tfbs³		2		NS WA	286
rs11570247^1,2	C,	--	54660985(+)	`GAAATC/TGAGCC`	4	--	us2k¹		2		NS WA	286
rs11570248^1,2	C,F,H,	--	54661071(+)	`CGGTTT/GATCAG`	4	--	us2k¹		23		NS EA NA CSA WA	2794
rs11698151^1,2	C,H,	--	54661223(+)	`AAACAA/GATAAA`	4	--	us2k¹ tfbs³		7		NS EA NA	536
rs80067414^1,2	C,	--	54661571(+)	`TCTCTC/TCAGGT`	4	--	us2k¹		2		NA	122
rs11570250^1,2	C,	--	54661638(+)	`GAGCTA/GTCAAG`	4	--	us2k¹		2		NS WA	278
rs76437248^1,2	C,	--	54661650(+)	`CAGGGG/TGATGT`	4	--	us2k¹		3		NA WA	240

HapMap Linkage Disequilibrium report for EDN3 (57875482 - 57901047 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EDN3: --
Human Gene Mutation Database (HGMD): EDN3

Locus Specific Mutation Databases (LSDB): EDN3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing EDN3

DNA2.0 Custom Variant and Variant Library Synthesis for EDN3

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

EDN3 for disorders           About GeneDecksing

OMIM gene information: 131242
OMIM disorders: 613265  209880  613712
UniProtKB/Swiss-Prot: EDN3_HUMAN, P14138

Defects in EDN3 are the cause of Hirschsprung disease type 4 (HSCR4) [MIM:613712]; also known as aganglionic

megacolon (MGC). A genetic disorder of neural crest development characterized by the absence of intramural ganglion

cells in the hindgut; often resulting in intestinal obstruction

Defects in EDN3 are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as

congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of

respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in

autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia

and hypoxemia

Defects in EDN3 are a cause of Waardenburg syndrome type 4 (WS4B) [MIM:613265]; also known as Waardenburg-Shah

syndrome. WS4B is characterized by the association of Waardenburg features (depigmentation and deafness) and the

absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease)

20/67 diseases for EDN3 (see all 67): About MalaCards

waardenburg's syndrome hirschsprung's disease shah-waardenburg syndrome central hypoventilation syndrome

waardenburg syndrome type 4 intestinal pseudo-obstruction waardenburg syndrome, type 4b congenital central hypoventilation syndrome

colonic aganglionosis waardenburg syndrome type 2 primary biliary cirrhosis sleep apnea

interstitial nephritis liver cirrhosis hepatorenal syndrome intestinal obstruction

neuronitis cerebral infarction portal hypertension megacolon

3 diseases from the University of Copenhagen DISEASES database for EDN3:

Hirschsprung's disease Waardenburg's syndrome Intestinal obstruction

10/50 Novoseek disease relationships for EDN3 gene (see all 50) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
shah-waardenburg syndrome	87	7	8630503 (1), 11303518 (1), 9359047 (1), 9279758 (1) (see all 6)
hirschsprung disease	86.1	52	10792313 (4), 14669347 (3), 20009762 (3), 9094028 (1) (see all 25)
waardenburgs syndrome	82.1	4	8630503 (1), 9359047 (1), 9035203 (1)
colonic aganglionosis	63.7	6	8630503 (1), 9895385 (1), 10792313 (1), 19556619 (1)
central hypoventilation syndrome, congenital	52.1	1	8696331 (1)
subarachnoid hemorrhage	33.7	5	1983878 (2), 9385564 (1), 1410800 (1), 7815135 (1)
cerebral vasospasm	30.8	2	1983878 (2)
vasospasm	21.6	1	8301307 (1)
hypertension pulmonary	19.3	1	8431058 (1)
cirrhosis	19.2	30	8719927 (6), 7875671 (4), 7499784 (4), 8750167 (4) (see all 11)

GeneTests: EDN3

Hirschsprung Disease

Human Genome Epidemiology (HuGE) Navigator: EDN3 (10 documents)

Export disorders for EDN3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for EDN3 gene, integrated from 9 sources (see all 516):
(articles sorted by number of sources associating them with EDN3)

Utopia: connect your pdf to the dynamic
world of online information

Proteolytic processing of big endothelin-3 by the kell blood group protein. (PubMed id 10438732)^{1, 2, 9} Lee S....Redman C. (1999)
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah- Waardenburg syndrome). (PubMed id 8630503)^{1, 2, 9} Hofstra R.M.W.... Buys C.H.C.M. (1996)
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PubMed id 12189494)^{1, 2, 9} Pingault V.... Goossens M. (2002)
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? (PubMed id 11303518)^{1, 2, 9} Pingault V....Goossens M. (2001)
Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. (PubMed id 9359047)^{1, 2, 9} Bidaud C....Lyonnet S. (1997)
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. (PubMed id 9359036)^{1, 2, 9} Hofstra R.M.W.... Buys C.H.C.M. (1997)
Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. (PubMed id 8696331)^{1, 2, 9} Bolk S.... Chakravarti A. (1996)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3. (PubMed id 9284755)^{1, 2} Bourgeois C.... Ferre F. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1908	HGNC: 3178	AceView: EDN3	Ensembl:ENSG00000124205	euGenes: HUgn1908
ECgene: EDN3	H-InvDB: EDN3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EDN3	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDN3
NIEHS-SNPs	http://egp.gs.washington.edu/data/edn3/

Intellectual Property for EDN3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for EDN3 gene:
Search GeneIP for patents involving EDN3

GeneCards and IP:
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Cirrhosis
Melanoma
BREAST CARCINOMA
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HYPERTENSION ARTERIAL
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Acute myocardial infarction
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dysplasia
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EDN3 Gene

endothelin 3

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