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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EDNRB Gene

protein-coding GIFtS: 70
GCID: GC13M078469

endothelin receptor type B

(Previous symbols: HSCR2, HSCR)

Explore 106 diseases affiliated with
EDNRB 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 Receptor Type B¹ ²		ET-BR² ³
HSCR2¹ ² ⁵		ETRB² ³
ETB¹ ²		ABCDS² ⁵
HSCR¹ ²		WS4A² ⁵
Endothelin Receptor Non-Selective Type² ³		ETBR²
ET-B² ³		Endothelin B Receptor²

External Ids:	HGNC: 3180¹	Entrez Gene: 1910²	Ensembl: ENSG00000136160⁷	OMIM: 131244⁵	UniProtKB: P24530³

Export aliases for EDNRB gene to outside databases

Previous GC identifers: GC13M076437 GC13M072464 GC13M077406 GC13M076267 GC13M077367 GC13M059168

(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 EDNRB:

The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second

messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3.

Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin

receptor type B gene. Alternatively spliced transcript variants encoding different isoforms have been found for this

gene. (provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: EDNRB_HUMAN, P24530

Function: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that

activate a phosphatidylinositol-calcium second messenger system

summary for EDNRB:

The endothelinB receptor (ETB receptor) is a member of the endothelin receptor group of G-protein-coupled

receptors that also includes ETA. They are located primarily in the vascular endothelial cells where they

play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. The human ETB

receptor gene has been localized to chromosome 13 (13q22).

Gene Wiki entry for EDNRB (Endothelin receptor type B)

(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_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the EDNRB gene promoter:
AP-1 ATF-2 c-Jun NF-kappaB1 NF-kappaB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EDNRB promoter sequence

Search SABiosciences Chromatin IP Primers for EDNRB

Epigenetics:

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

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

Entrez Gene cytogenetic band: 13q22 Ensembl cytogenetic band: 13q22.3 HGNC cytogenetic band: 13q22

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

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M078469: view genomic region (about GC identifiers)

Start:	78,469,616 bp from pter	End:	78,493,903 bp from pter
Size:	24,288 bases	Orientation:	minus 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: EDNRB_HUMAN, P24530 (See protein sequence)

Recommended Name: Endothelin B receptor precursor

Size: 442 amino acids; 49644 Da

Subcellular location: Cell membrane; Multi-pass membrane protein

Sequence caution: Sequence=BAD92435.1; Type=Erroneous initiation;

Secondary accessions: A2A2Z8 A8K3T4 O15343 Q59GB1 Q5W0G9 Q8NHM6 Q8NHM7 Q8NHM8 Q8NHM9 Q9UD23 Q9UQK3

Alternative splicing: 3 isoforms: P24530-1 P24530-2 P24530-3 (Ref.10 (AAD24541) sequence is in conflict in positions: 79:SGHRTP->RPPDA)

Explore the universe of human proteins at neXtProt for EDNRB: NX_P24530

Post-translational modifications:

Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and

Cys-405¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P24530

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

REFSEQ proteins (4 alternative transcripts):

NP_000106.1 NP_001116131.1 NP_001188326.1 NP_003982.1

ENSEMBL proteins:

ENSP00000366416 ENSP00000335311 ENSP00000403401

Reactome Protein details: P24530
Human Recombinant Protein Products for EDNRB:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
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	Novus Biologicals EDNRB Proteins Novus Biologicals EDNRB Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for EDNRB

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	TAS	8810293
GO:0031965	nuclear membrane	IEA	--
GO:0045121	membrane raft	IEA	--

EDNRB for ontologies About GeneDecksing

EDNRB Antibody Products:

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	Novus Biologicals EDNRB Antibodies
	Abcam antibodies for EDNRB
	Uscn Antibodies for EDNRB
	ThermoFisher Antibodies for EDNRB

Assay Products for EDNRB:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript EDNRB-overexpressing Cell Line for Assay
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for EDNRB

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

EDNRB for domains About GeneDecksing

4 InterPro domains/families:

IPR001112 ETB_rcpt

IPR017452 GPCR_Rhodpsn_7TM

IPR000499 Endthln_rcpt

IPR000276 GPCR_Rhodpsn

Graphical View of Domain Structure for InterPro Entry P24530

ProtoNet protein and cluster: P24530

2 Blocks protein families:

IPB000499 Endothelin receptor signature

IPB001112 Endothelin-B receptor signature

UniProtKB/Swiss-Prot: EDNRB_HUMAN, P24530

Similarity: Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: EDNRB_HUMAN, P24530

Function: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that

activate a phosphatidylinositol-calcium second messenger system

Genatlas biochemistry entry for EDNRB:

endothelin receptor B,G protein coupled receptor superfamily,homologous to murine piebald lethal

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004962	endothelin receptor activity	IMP	19767294
GO:0005515	protein binding	--	--
GO:0017046	peptide hormone binding	IPI	1713452
GO:0031702	type 1 angiotensin receptor binding	IEA	--

EDNRB for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for EDNRB:

Increased G2M DNA content

Increased number of mitotic ce

Increased viability after born

15/22 MGI mutant phenotypes (inferred from 44 alleles) (MGI details for Ednrb) (see all 22):

behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hearing/vestibular/ear	homeostasis/metabolism	immune system
integument	limbs/digits/tail	mortality/aging	muscle	nervous system

EDNRB for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for EDNRB: Ednrb^tm1Ywa Ednrb^tm1.1Yko

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for EDNRB

miRNA Products:		OriGene 3'-UTR Clone (see all 3): EDNRB Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EDNRB
		8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate EDNRB (see all 57):
		hsa-miR-142-5p hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-19b-2* hsa-miR-146a hsa-miR-1224-3p hsa-miR-3616-5p

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EDNRB (see all 7) OriGene shRNA RFP: EDNRB OriGene siRNA: EDNRB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EDNRB
		Sirion Biotech Custom design and validation of potent shRNA sequences against EDNRB

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for EDNRB
			Sirion Biotech Customized adenovirus for overexpression of EDNRB Sirion Biotech Customized adenovirus for potent knockdown of EDNRB

Clone Products:		EMD Millipore Clones for the Expression of EDNRB
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EDNRB (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EDNRB (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): EDNRB (NM_000115)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDNRB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDNRB

Cell Line Products:		GenScript EDNRB-overexpressing Cell Line for Assay
		Search LifeMap BioReagents cell lines for EDNRB
		Sirion Biotech Customized stable knockdown cell line services for EDNRB Sirion Biotech Customized inducible knockdown cell line services for EDNRB Sirion Biotech Customized stable overexpressing cell line services for EDNRB Sirion Biotech Customized inducible overexpressing cell line services for EDNRB

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDNRB

(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 - 5/12 super-pathways (see all 12) 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	GPCRs, Class A Rhodopsin-like	0.41
GPCR ligand binding	0.75	Neuroactive ligand-receptor interaction	0.38
Peptide ligand-binding receptors	0.61

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

Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

1.00

Peptide GPCRs

0.46

Development Angiotensin activation of ERK

Development EDNRB signaling

0.54

Development_EDNRB signaling

0.54

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for EDNRB

	Development EDNRB signaling
	Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for EDNRB

Endothelin-1 Signaling Pathway

1 GeneGo (Thomson Reuters) Pathway for EDNRB

Development EDNRB signaling

5/6 BioSystems Pathways for EDNRB (see all 6)

	Prostaglandin Synthesis and Regulation
	GPCRs, Class A Rhodopsin-like
	Endothelin
	Arf6 trafficking events
	Peptide GPCRs

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

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

3 Kegg Pathways (Kegg details for EDNRB):

	Calcium signaling pathway
	Neuroactive ligand-receptor interaction
	Melanogenesis

EDNRB for pathways About GeneDecksing

Interactions:

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

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

5/140 Interacting proteins for EDNRB (P24530³ ENSP00000335311⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 140)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CAV1	Q03135³, ENSP00000339191⁴	I2D: score=2 STRING: ENSP00000339191
COPS5	Q92905³, ENSP00000350512⁴	I2D: score=1 STRING: ENSP00000350512
GRK6	P43250³, ENSP00000377204⁴	I2D: score=1 STRING: ENSP00000377204
EDN1	P05305³, ENSP00000368683⁴	I2D: score=1 STRING: ENSP00000368683
EDN3	P14138³, ENSP00000337128⁴	I2D: score=1 STRING: ENSP00000337128

About this table

Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	--
GO:0001755	neural crest cell migration	IEA	--
GO:0001934	positive regulation of protein phosphorylation	IEA	--
GO:0006885	regulation of pH	IEA	--
GO:0007166	cell surface receptor signaling pathway	TAS	8810293

EDNRB 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

EDNRB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for EDNRB

Compounds for EDNRB available from Tocris Bioscience About this table

Compound	Action	CAS #
BQ 788 sodium salt	Selective ETB antagonist	[156161-89-6]
IRL-2500	Potent ETB antagonist	[169545-27-1]

1 HMDB Compound for EDNRB About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 DrugBank Compounds for EDNRB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Sitaxentan	Sitaxsentan (see all 2)	210421-64-0	target	antagonist	16335785 7858879 15629255 11752352 9806221 17472992 7921608
Bosentan	--	147536-97-8	target	antagonist	16335785 7858879 15629255 11752352 9806221 7921608

10/59 Novoseek chemical compound relationships for EDNRB gene (see all 59) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sarafotoxin	90	38	8336519 (3), 9240323 (2), 8751073 (1), 9146666 (1) (see all 26)
bq788	89.2	31	15906230 (2), 17433294 (2), 15604257 (2), 15358810 (1) (see all 20)
bq123	88.5	29	7620699 (2), 8309002 (2), 8355464 (2), 8473300 (1) (see all 20)
bq 3020	84.1	7	7891013 (2), 8355464 (2), 7679333 (1)
irl 1620	81.2	5	10705994 (1), 15280069 (1), 8650075 (1), 8664342 (1)
atrasentan	77.4	3	15838329 (2), 15838364 (1)
fr139317	77.1	4	7891013 (1), 8124808 (1), 7965709 (1)
bosentan	75.2	10	9786266 (1), 14727963 (1), 9777021 (1), 8035319 (1) (see all 10)
pd 142893	74.3	1	12147606 (1)
bq610	72.7	5	17433294 (2), 10445306 (1), 12147606 (1), 11034585 (1)

Search CenterWatch for drugs/clinical trials and news about EDNRB

(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, Sirion Biotech, 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 EDNRB gene (4 alternative transcripts):

NM_000115.3 NM_001122659.2 NM_001201397.1 NM_003991.3

Unigene Cluster for EDNRB:

Endothelin receptor type B

Hs.82002 [show with all ESTs]

Unigene Representative Sequence: NM_001201397

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

ENST00000377211(uc001vkp.1 uc001vkq.1) ENST00000334286(uc001vko.2)

ENST00000475537 ENST00000446573(uc010aez.1)

miRNA Products:		OriGene 3'-UTR Clone (see all 3): EDNRB Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EDNRB
		8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate EDNRB (see all 57):
		hsa-miR-142-5p hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-19b-2* hsa-miR-146a hsa-miR-1224-3p hsa-miR-3616-5p

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for EDNRB (see all 7) OriGene shRNA RFP: EDNRB OriGene siRNA: EDNRB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EDNRB
		Sirion Biotech Custom design and validation of potent shRNA sequences against EDNRB

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for EDNRB (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for EDNRB (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): EDNRB (NM_000115)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDNRB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDNRB

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EDNRB Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EDNRB
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EDNRB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EDNRB

Additional cDNA sequence:

AB209198.1 AF114165.1 AK290699.1 AY275463.1 BC014472.1 D90402.1 L06623.1 M74921.1

S44866.1 S57283.1 X99250.1

12 DOTS entries:

DT.100793248 DT.443502 DT.101975883 DT.120795950 DT.100793249 DT.75164588 DT.97817518 DT.100709927

DT.95278691 DT.117753 DT.95278688 DT.95278689

24/221 AceView cDNA sequences (see all 221):

AU139933 BI962776 BI492017 CK906282 BQ229233 AA814635 AF308156 AI866976

CA771312 BU727655 N24818 N20208 CR605578 CR608540 BU681708 AU137325

AF114164 AA573116 BU678277 AY275463 CR611011 BI520340 BM804821 AU136164

GeneLoc Exon Structure

(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

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

About this image

EDNRB expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/17 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 17)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Crest

Trunk Neural Crest

Vagal Neural Crest Cells

Neural Crest

Gut Tube

Hindgut

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Brain

Brain

Brain

Gut Tube

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

CyT49 (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

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

SOURCE GeneReport for Unigene cluster: Hs.82002

UniProtKB/Swiss-Prot: EDNRB_HUMAN, P24530

Tissue specificity: Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells

SABiosciences Expression via Pathway-Focused PCR Arrays including EDNRB:

G Protein Coupled Receptors 384HT in human mouse rat

Hypertension in human mouse rat

Embryonic Stem Cells in human mouse rat

Prostate Cancer in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for EDNRB Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat EDNRB
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EDNRB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EDNRB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDNRB

(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 animals.

Orthologs for EDNRB gene from 4/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	EDNRB¹	endothelin receptor type B	77.56(n) 86.03(a)		408082 NM_001001127.1 NP_001001127.1
lizard (Anolis carolinensis)	Reptilia	EDNRB⁶	--	80(a)	1 ↔ 1	3(98046709-98070355)
zebrafish (Danio rerio)	Actinopterygii	AF275636.1²	--	74.49(n)		30442 AF275636.1
fruit fly (Drosophila melanogaster)	Insecta	CCHa2r⁶ CCHa1r⁶	CCHamide-1 receptor	21(a) 21(a)	many ↔ many many ↔ many	2R(1938477-1956185) 2R(13535037-13541801)

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

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

Paralogs for EDNRB gene

EDNRA² GRPR² GPR37² BRS3² NMBR² GPR37L1²

3 SIMAP similar genes for EDNRB using alignment to 1 protein entry: EDNRB_HUMAN:

EDNRA GRPR NMBR

EDNRB 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 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894387^1,2	C,F	pathogenic	59174047(-)	`TGGTGG/TCTATT`	9	W C	int¹ mis¹		2		NA EU	5771
rs104894390^1,2	C	pathogenic	59176066(-)	`ATCTGC/TGAATC`	9	R *	int¹ stg¹		0	--	--	--	--
rs104894391^1,2	C	pathogenic	59176222(-)	`GATATC/TGAGCT`	9	R *	int¹ stg¹		1		NA	4496
rs104894388^1,2	C	pathogenic	59176409(-)	`GAAAGC/GCTCCG`	9	A G	int¹ mis¹		0	--	--	--	--
rs5352^1,2	C,F,H	other	59173961(-)	`GAAAAG/ATGGCA`	9	/N /S	int¹ mis¹ trp³		19		MN NS EA NA EU	7707
rs104894389^1,2	C	other	59174051(-)	`AGATTA/GGTGGC`	9	* W	int¹ stg¹		0	--	--	--	--
rs1801710^1,2	C,F	other	59191277(-)	`CCAAGG/AGTTCC`	8	/S /G	mis¹		5		MN NA EU	6063
rs113208648^1,2		--	59168301(+)	`AGTTGC/AATGTC`	5	--	int¹ ds500¹		1		CSA	2
rs146031905^1,2	C	--	59168330(+)	`CAACAA/GTGAAA`	5	--	int¹ ds500¹		0	--	--	--	--
rs139792924^1,2	C	--	59168604(+)	`GATATA/GTAATT`	5	--	int¹ ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for EDNRB (78469616 - 78493903 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EDNRB: --
Human Gene Mutation Database (HGMD): EDNRB

Locus Specific Mutation Databases (LSDB): EDNRB

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for EDNRB

(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

EDNRB for disorders           About GeneDecksing

OMIM gene information: 131244
OMIM disorders: 600155  600501  277580
UniProtKB/Swiss-Prot: EDNRB_HUMAN, P24530

Defects in EDNRB are a cause of Waardenburg syndrome type 4A (WS4A) [MIM:277580]; also known as

Waardenburg-Shah syndrome. WS4A 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)

Defects in EDNRB are the cause of Hirschsprung disease type 2 (HSCR2) [MIM:600155]; also known as aganglionic

megacolon (MGC). HSCR2 is a congenital disorder characterized by absence of enteric ganglia along a variable length of

the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete

acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic

constipation in the older child

Defects in EDNRB are the cause of ABCD syndrome (ABCDS) [MIM:600501]. ABCD syndrome is an autosomal recessive

syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the

large intestine and total absence of neurocytes and nerve fibers in the small intestine

20/106 diseases for EDNRB (see all 106): About MalaCards

hirschsprung's disease hirschsprung disease type 2 shah-waardenburg syndrome waardenburg syndrome type 4

central hypoventilation syndrome waardenburg's syndrome intestinal pseudo-obstruction waardenburg syndrome, type 4a

acute poststreptococcal glomerulonephritis congenital central hypoventilation syndrome colonic aganglionosis non-small cell lung carcinoma

waardenburg syndrome type 2 developmental disabilities abcd syndrome impetigo

proliferative vitreoretinopathy gingival overgrowth toxic shock syndrome essential hypertension

7 diseases from the University of Copenhagen DISEASES database for EDNRB:

Hirschsprung's disease Waardenburg's syndrome ABCD syndrome Sensorineural hearing loss

Hepatopulmonary syndrome Intestinal obstruction Hypertension

10/68 Novoseek disease relationships for EDNRB gene (see all 68) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hirschsprung disease	89.9	108	15294878 (4), 12080062 (3), 10792313 (3), 14669347 (3) (see all 50)
shah-waardenburg syndrome	89	9	8630502 (1), 11484199 (1), 19764031 (1), 16237557 (1) (see all 7)
waardenburgs syndrome	85.6	4	11484199 (1), 9035423 (1), 9035203 (1)
staphylococcal scalded skin syndrome	74.6	3	10447140 (1), 15815014 (1), 1703553 (1)
hirschsprung disease 2	71.7	2	11484199 (1), 8001158 (1)
colonic aganglionosis	70.1	4	8630503 (1), 9895385 (1), 10792313 (1)
bullous impetigo	68.8	4	9431380 (2), 15815014 (2)
acute poststreptococcal glomerulonephritis	62.6	3	11231350 (1), 16534181 (1), 19184118 (1)
hypertension pulmonary	53.7	2	18567602 (1), 11000137 (1)
lentigines	44.7	1	16145050 (1)

GeneTests: EDNRB

Hirschsprung Disease

Genetic Association Database (GAD): EDNRB
Human Genome Epidemiology (HuGE) Navigator: EDNRB (31 documents)

Export disorders for EDNRB 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 EDNRB gene, integrated from 9 sources (see all 577):
(articles sorted by number of sources associating them with EDNRB)

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

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. (PubMed id 12628594)^{1, 2, 4, 9} Zaahl M.G.... Moore S.W. (2003)
Association between endothelin receptor B nonsynonymous variants and melanoma risk. (PubMed id 16145050)^{1, 4, 9} Soufir N....Grandchamp B. (2005)
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. (PubMed id 8852660)^{1, 2, 9} Amiel J....Lyonnet S. (1996)
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. (PubMed id 8852659)^{1, 2, 9} Auricchio A.... Ballabio A. (1996)
Association between glaucoma and gene polymorphism of endothelin type A receptor. (PubMed id 15988412)^{1, 4, 9} Ishikawa K....Mashima Y. (2005)
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PubMed id 12189494)^{1, 2, 9} Pingault V.... Goossens M. (2002)
Phenotypic variation in a family with mutations in two Hirschsprung- related genes (RET and endothelin receptor B). (PubMed id 9760196)^{1, 2, 9} Svensson P.J.... Nordenskjold A. (1998)
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. (PubMed id 11891690)^{1, 2, 9} Verheij J.B.... Hofstra R.M. (2002)
Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling. (PubMed id 11471546)^{1, 2, 9} Fuchs S.... Pinet F. (2001)
Novel endothelin B receptor transcripts with the potential of generating a new receptor. (PubMed id 10072757)^{1, 2, 9} Tsutsumi M.... Jones P.A. (1999)

(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: 1910	HGNC: 3180	AceView: EDNRB	Ensembl:ENSG00000136160	euGenes: HUgn1910
ECgene: EDNRB	Kegg: 1910	H-InvDB: EDNRB

(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 EDNRB	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EDNRB
NIEHS-SNPs	http://egp.gs.washington.edu/data/ednrb/

Intellectual Property for EDNRB gene
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Patent Information for EDNRB gene:
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endothelin receptor type B

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EDNRB Gene

endothelin receptor type B

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