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EDNRB Gene

protein-coding GIFtS: 66

GC13M077367

endothelin receptor type B
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: HSCR2, HSCR)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ABCDS ^², ⁵
ET-B ^³
ETB ^¹, ²
ETBR ^²
ETRB ^², ³
HSCR ^²
HSCR2 ^², ⁵
OTTHUMP00000178736 ^²

Descriptions
Endothelin receptor non-selective type ^², ³
endothelin receptor type B ^²

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

Search outside databases for aliases for EDNRB gene

Previous GC identifers: GC13M076437 GC13M072464 GC13M077406 GC13M076267

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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.

Three transcript variants encoding two different isoforms have been found for this gene. While

both isoforms bind ET1, they exhibit different responses upon binding, suggesting that they may be

functionally distinct. [provided by RefSeq]

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

Gene Wiki entry for EDNRB (Endothelin_receptor_type_B)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the EDNRB gene

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)

GeneLoc gene densities for chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M077367: (about GC identifiers)

Start:	77,367,617 bp from pter
End:	77,447,665 bp from pter
Size:	80,049 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000013.9 NT_024524.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

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

Alternative splicing: 3 isoforms: P24530-1 P24530-2 P24530-3

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 phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000106.1 NP_001116131.1 NP_003982.1

ENSEMBL proteins:

ENSP00000335311 ENSP00000366416

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Millipore Purified and/or Recombinant EDNRB Protein
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Endothelin B Receptor)
	Human Recombinant Proteins from Abnova (EDNRB)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	8810293
GO:0005887	integral to plasma membrane	TAS	8810293

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Antibodies for EDNRB:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of EDNRB
	Sigma-Aldrich Antibodies for EDNRB
	R&D Systems Antibodies for EDNRB (EDNRB/Endothelin R Type B)
	Antibodies from Abcam (Endothelin B Receptor), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (EDNRB)
	Search Novus for antibodies for EDNRB

Assays for EDNRB:

	Invitrogen Assays for EDNRB
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EDNRB)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EDNRB)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_003991

Applied Biosystems Silencer® siRNAs for EDNRB

Sigma-Aldrich siRNA and siRNA Panels for EDNRB

Sigma-Aldrich shRNA Panels and shRNA for EDNRB

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for EDNRB
		Millipore Clones for the Expression of EDNRB

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000115
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000115
untagged cDNA clones in CMV expression vector (see all 5): NM_000115

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001122659

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

Genatlas biochemistry entry for EDNRB:

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

15/23 MGI mutant phenotypes (inferred from 38 alleles) (MGI details for Ednrb) (see all 23 ):

	behavior/neurological	cellular	craniofacial	digestive/alimentary
embryogenesis	growth/size	hearing/vestibular/ear	homeostasis/metabolism	immune system
lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	muscle	nervous system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001600	endothelin-B receptor activity	IEA	--
GO:0004872	receptor activity	IEA	--
GO:0004930	G-protein coupled receptor activity	IEA	--
GO:0005515	protein binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for EDNRB (Your Favorite Gene powered by Ingenuity)

G-Protein Coupled Receptor Signaling
Endothelin-1 Signaling
Hepatic Fibrosis / Hepatic Stellate Cell Activation

GeneDecks EDNRB for the pathways selected above

About GeneDecksing

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

5/58 Interacting proteins for EDNRB (ENSP00000366416³) via UniProtKB, MINT, and/or STRING (see all 58 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
EDN1	ENSP00000368683³	STRING (score=.999)
EDN3	ENSP00000360067³	STRING (score=.999)
EDN2	ENSP00000361668³	STRING (score=.996)
GNA11	ENSP00000078429³	STRING (score=.994)
GDNF	ENSP00000317145³	STRING (score=.993)

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5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001755	neural crest cell migration	IEA	--
GO:0006885	regulation of pH	IEA	--
GO:0007194	negative regulation of adenylate cyclase activity	TAS	9556633
GO:0007200	activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	TAS	9556633
GO:0007422	peripheral nervous system development	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for EDNRB:

Antagonist

Compounds for EDNRB available from Tocris Bioscience

Compound	Action	CAS number
BQ 788 sodium salt	Selective ETB antagonist	[156161-89-6]

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10/26 Novoseek chemical compound relationships for EDNRB gene (see all 26 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
sarafotoxin	90.02	39	8336519 (3), 9240323 (2), 8751073 (1), 9146666 (1) (see all 27)
bq 3020	83.32	9	7891013 (2), 7647976 (2), 8355464 (2), 7679333 (1)
irl 1620	81.71	5	10705994 (1), 15280069 (1), 8650075 (1), 8664342 (1)
fr139317	77.59	4	7891013 (1), 8124808 (1), 7965709 (1)
pd 142893	75.10	1	12147606 (1)
bq610	73.34	5	17433294 (2), 10445306 (1), 12147606 (1), 11034585 (1)
ambrisentan	68.06	1	16741057 (1)
sitaxsentan	66.08	3	17314684 (1), 14630619 (1), 16292989 (1)
lu135252	63.45	2	11078390 (1), 14718401 (1)
pd 145065	57.52	1	11212215 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EDNRB)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EDNRB)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_003991

Sigma-Aldrich siRNA and siRNA Panels for EDNRB

Sigma-Aldrich shRNA Panels and shRNA for EDNRB

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000115 NM_001122659 NM_003991

REFSEQ mRNAs for EDNRB gene (3 alternative transcripts):

NM_000115.2 NM_001122659.1 NM_003991.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000115 NM_001122659 NM_003991

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000115
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000115
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_000115

Additional cDNA sequence:

AB209198.1 AF114163.1 AF114164.1 AF114165.1 AK290699.1 AY275463.1 BC014472.1 CR605578.1

CR608540.1 CR611011.1 CR613068.1 CR623558.1 D90402.1 L06623.1 M74921.1 S44866.1

S57283.1 X99250.1

12 DOTS entries:

DT.100793248 DT.443502 DT.101975883 DT.120795950 DT.95278688 DT.100793249 DT.75164588 DT.97817518

DT.100709927 DT.117753 DT.95278691 DT.95278689

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

BQ229233 AU136164 CR608540 AA573116 BU727655 BI520340 AF308156 CA771312

AY275463 CR613068 CK906282 CA397473 AU139933 CR611011 BI492017 BM804821

N20208 CR623558 AA814635 BQ212073 AL709106 N24818 AF114164 AF114163

highest scoring ESTs for EDNRB:

AF114165 BM918983 BU952237 CA772539 CB997737 CB997817 D90402 S57283 AA000986 AA019120

Unigene Cluster for EDNRB:

Endothelin receptor type B

Hs.82002 [show with all ESTs]

Unigene Representative Sequence: NM_001122659

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000334286 ENST00000377211

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EDNRB expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EDNRB

¹ / ² / ³

7 probe-sets matching EDNRB gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1198_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	D13168	0.20	1.00	0.72	1
204273_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000115	0.60	1.00	0.82	1
206701_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_003991	0.60	1.00	0.82	1
204271_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M74921	0.60	1.00	0.82	1
204273_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
206701_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204271_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks EDNRB for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GGTATGCTGT

SOURCE GeneReport for Unigene cluster: Hs.82002
Expression variation in blood from EXPOLDB for EDNRB
UniProtKB/Swiss-Prot: EDNRB_HUMAN, P24530
Tissue specificity: Expressed in placental stem villi vessels, but not in cultured placental villi
smooth muscle cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for EDNRB gene from 5/7 species (see all 7 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	EDNRB¹	--	endothelin receptor type B	94.27(n) 97.29(a)	403862 NM_001010943.1 NP_001010943.1
chimpanzee (Pan troglodytes)	EDNRB¹	--	endothelin receptor type B	99.62(n) 100(a)	452613 XM_001141537.1 XP_001141537.1
cow (Bos taurus)	EDNRB¹	--	endothelin receptor type B	87.35(n) 89.09(a)	281750 NM_174309.2 NP_776734.1
rat (Rattus norvegicus)	Ednrb¹	--	endothelin receptor type B	85.79(n) 89.12(a)	50672 NM_017333.1 NP_059029.1
mouse (Mus musculus)	Ednrb^{1, 5}	14 (51.00 cM)⁵	endothelin receptor type B^{1, 5}	85.56(n)¹ 89.12(a)¹	13618¹ NM_007904.3¹ NP_031930.1¹ AB242436⁵ AE013600⁵ (see all 58)

About this table Species with no ortholog for EDNRB

ENSEMBL Gene Tree for EDNRB

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

Paralogs for EDNRB gene

EDNRA²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/521 NCBI SNPs in EDNRB are shown (see all 521 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 215)

AB	SNP ID	Valid	Chr 13 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs9544656^1,2	A,C,F,H	77448842(+)	`TGCCTG/ATATTG`	1	--	ng3¹		4	EU EA WA	414
	rs12720100^1,2	C,F,H	77448249(-)	`CAATCC/TATACA`	1	--	ng3¹		15	NS EU EA WA	1664
	rs12720158^1,2	C,F,H	77391220(-)	`GAGTCT/GTTCGA`	2	--	ng3¹ int¹		5	NS EU EA WA	584
	rs4885491^1,2	C,F,H	77368351(+)	`GGAAAG/AGGTAT`	3	--	ut3¹ trp³		16	NS EU EA WA NA	1568
	rs12716722^1,2	C,F,H	77390857(-)	`TGGATA/GCTGGC`	3	--	int¹ ut5¹ ese³		5	NS EU EA WA	574
	rs3027092^1,2	C,F,H	77368569(+)	`ATATGG/ATGTGT`	3	--	ut3¹ ese³		5	NS EU EA WA	576
	rs3027094^1,2	C,F,H	77368790(+)	`GAACAT/CTGCAC`	3	--	ut3¹ int¹		11	NS EU EA WA	1258
	rs5346^1,2	C,F,H	77390661(-)	`TGGTTC/TTTGCC`	3	L/F	mis¹ ese³		7	MN EU EA WA	726
	rs3027095^1,2	C,F,H	77369026(+)	`TAAGAG/AGTTCT`	3	--	ut3¹ int¹		5	NS EU EA WA	598
	rs5352^1,2	C,F,H	77373231(-)	`GAAAAG/ATGGCA`	3	N/S	mis¹ trp³		14	MN NS EU EA WA NA	1406

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HapMap Linkage Disequilibrium images for EDNRB (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 131244 disorders: 600155 600501 277580

UniProtKB/Swiss-Prot: EDNRB_HUMAN, P24530

Defects in EDNRB are a cause of Waardenburg syndrome type IV (WS4) [MIM:277580]; also

known as Waardenburg-Shah syndrome. WS4 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). It 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

10/65 Novoseek disease relationships for EDNRB gene (see all 65 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hirschsprung disease	89.76	106	15294878 (4), 12080062 (3), 10792313 (3), 14669347 (3) (see all 49)
shah-waardenburg syndrome	89.22	8	8630502 (1), 11484199 (1), 16237557 (1), 9279758 (1) (see all 6)
waardenburgs syndrome	85.20	4	11484199 (1), 9035423 (1), 9035203 (1)
staphylococcal scalded skin syndrome	75.51	3	10447140 (1), 15815014 (1), 1703553 (1)
hirschsprung disease 2	72.15	2	11484199 (1), 8001158 (1)
bullous impetigo	70.11	4	9431380 (2), 15815014 (2)
colonic aganglionosis	68.27	4	8630503 (1), 9895385 (1), 10792313 (1)
acute poststreptococcal glomerulonephritis	63.54	3	11231350 (1), 16534181 (1), 19184118 (1)
hypertension pulmonary	52.04	2	18567602 (1), 11000137 (1)
hypertension arterial	35.81	3	15927975 (1), 14630619 (1), 16292989 (1)

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GeneTests: EDNRB

Hirschsprung Disease

Human Gene Mutation Database: EDNRB
Genetic Association Database: EDNRB
Human Genome Epidemiology Navigator: EDNRB (19 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/484 PubMed articles for EDNRB gene (see all 484 ):

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, 3, 4, 6} Zaahl M.G....Moore S.W. (2003)
Association between endothelin receptor B nonsynonymous variants and melanoma risk. (PubMed id 16145050)^{1, 3, 6} Soufir N....Grandchamp B. (2005)
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. (PubMed id 8852660)^{1, 3, 4} Amiel J....Lyonnet S. (1996)
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. (PubMed id 8852659)^{1, 3, 4} Auricchio A.... Ballabio A. (1996)
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene. (PubMed id 11891690)^{1, 3, 4} Verheij J.B.... Hofstra R.M. (2002)
Association between glaucoma and gene polymorphism of endothelin type A receptor. (PubMed id 15988412)^{1, 3, 6} Ishikawa K....Mashima Y. (2005)
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. (PubMed id 12189494)^{1, 3, 4} 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, 3, 4} Svensson P.J.... Nordenskjold A. (1998)
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, 3, 4} Fuchs S.... Pinet F. (2001)
Novel endothelin B receptor transcripts with the potential of generating a new receptor. (PubMed id 10072757)^{1, 3, 4} Tsutsumi M.... Jones P.A. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
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Entrez Gene: 1910	HGNC: 3180	AceView: EDNRB	Ensembl:ENSG00000136160	euGenes: HUgn1910
ECgene: EDNRB	H-InvDB: EDNRB

(According to HUGE)
About This Section

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

Name	Description
GeneReviews	http://www.genetests.org/query?gene=EDNRB
NIEHS-SNPs	http://egp.gs.washington.edu/data/ednrb/

Licensable Technologies for EDNRB
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for EDNRB:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for EDNRB-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for EDNRB		Antibodies for EDNRB
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for EDNRB		Small molecules for EDNRB
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (EDNRB)
	Antibodies (EDNRB)
	Chimera RNAi (EDNRB)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Endothelin B Receptor)
	Antibodies (Endothelin B Receptor)

Search OriGene for EDNRB

Tocris compounds for EDNRB

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for EDNRB

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
EDNRB Gene at Home site.
Version 2.41.1
server5.xennexinc.com

EDNRB Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for EDNRB

Summaries
for EDNRB

Genomic Location
for EDNRB

Proteins
for EDNRB

Protein Domains/
Families
for EDNRB

Gene Function
for EDNRB

Pathways & Interactions
for EDNRB

Drugs & Compounds
for EDNRB

Transcripts
for EDNRB

Expression
for EDNRB

Orthologs
for EDNRB

Paralogs
for EDNRB

SNPs/Variants
for EDNRB

Disorders & Mutations
for EDNRB

Medical News
for EDNRB

Publications
for EDNRB

Search for EDNRB

Genome Databases showing EDNRB

Other Databases showing EDNRB

Specialized Databases showing EDNRB

Licensable Technologies
for EDNRB

Services
for EDNRB

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EDNRB Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor EDNRB

Summariesfor EDNRB

Genomic Locationfor EDNRB

Proteinsfor EDNRB

Protein Domains/Familiesfor EDNRB

Gene Functionfor EDNRB

Pathways & Interactionsfor EDNRB

Drugs & Compoundsfor EDNRB

Transcriptsfor EDNRB

Expression for EDNRB

Orthologsfor EDNRB

Paralogsfor EDNRB

SNPs/Variantsfor EDNRB

Disorders & Mutationsfor EDNRB

Medical Newsfor EDNRB

Publicationsfor EDNRB

Search for EDNRB

Genome Databases showing EDNRB

Other Databases showing EDNRB

Specialized Databases showing EDNRB

Licensable Technologiesfor EDNRB

Servicesfor EDNRB

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for EDNRB

Summaries
for EDNRB

Genomic Location
for EDNRB

Proteins
for EDNRB

Protein Domains/
Families
for EDNRB

Gene Function
for EDNRB

Pathways & Interactions
for EDNRB

Drugs & Compounds
for EDNRB

Transcripts
for EDNRB

Expression
for EDNRB

Orthologs
for EDNRB

Paralogs
for EDNRB

SNPs/Variants
for EDNRB

Disorders & Mutations
for EDNRB

Medical News
for EDNRB

Publications
for EDNRB

Licensable Technologies
for EDNRB

Services
for EDNRB