CleftGeneDB-Search

Gene: EDNRB

Basic information

Tag	Content
Uniprot ID	P24530; A2A2Z8; A8K3T4; O15343; Q59GB1; Q5W0G9; Q8NHM6; Q8NHM7; Q8NHM8; Q8NHM9; Q9UD23; Q9UQK3;
Entrez ID	1910
Genbank protein ID	AAH14472.1; CAD30648.1; AAD24541.1; AAB25531.1; BAA14398.1; BAD92435.1; CAD30646.1; BAA02445.1; AAA58465.1; AAS38516.1; CAD30645.1; CAA67623.1; AAA52342.1; AAB19411.1; EAW80575.1; CAD30647.1; BAF83388.1; AAP32295.1; EAW80573.1;
Genbank nucleotide ID	NM_003991.3; NM_001201397.1; NM_001122659.2; NM_000115.4;
Ensembl protein ID	ENSP00000493527; ENSP00000487082; ENSP00000494278; ENSP00000493895; ENSP00000366416; ENSP00000486202;
Ensembl nucleotide ID	ENSG00000136160
Gene name	Endothelin receptor type B
Gene symbol	EDNRB
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	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.
Sequence	MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT KTLWPKGSNA 60 SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF KYINTVVSCL VFVLGIIGNS 120 TLLRIIYKNK CMRNGPNILI ASLALGDLLH IVIDIPINVY KLLAEDWPFG AEMCKLVPFI 180 QKASVGITVL SLCALSIDRY RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF 240 DIITMDYKGS YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 300 LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY NQNDPNRCEL 360 LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC LCCWCQSFEE KQSLEEKQSC 420 LKFKANDHGY DNFRSSNKYS SS 442

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

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PDB ID
5GLH
5GLI
5GLI
5X93
5X93

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Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Ednrb	13618	P48302	CPO,CLP	Mus musculus	Publication	More>>
1:1 ortholog	EDNRB	281750	P28088		Bos taurus	Prediction	More>>
1:1 ortholog	EDNRB	403862	F1PB15		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	EDNRB	102186699	A0A452E880		Capra hircus	Prediction	More>>
1:1 ortholog	EDNRB	1910	P24530		Homo sapiens	Prediction	More>>
1:1 ortholog	EDNRB	452613	H2Q7N9		Pan troglodytes	Prediction	More>>
1:1 ortholog	EDNRB	414911	P35463		Sus scrofa	Prediction	More>>
1:1 ortholog	EDNRB	100009477	D6CI21		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Ednrb	50672	P21451		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ednrba	30442	Q9DGM2		Danio rerio	Prediction	More>>

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs5345	p.Leu7Gln	missense variant	-	NC_000013.11:g.77918554A>T	UniProt,dbSNP
rs5346	p.Leu17Phe	missense variant	-	NC_000013.11:g.77918525G>A	UniProt,dbSNP
rs5347	p.Phe112Val	missense variant	-	NC_000013.11:g.77918240A>C	UniProt,dbSNP
rs104894388	p.Ala183Gly	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt,dbSNP
rs5350	p.Thr244Met	missense variant	-	NC_000013.11:g.77903226G>A	UniProt,dbSNP
rs104894387	p.Trp276Cys	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt,dbSNP
rs5352	p.Ser305Asn	missense variant	-	NC_000013.11:g.77901095C>T	UniProt,dbSNP
VAR_014675	p.Leu7Gln	missense variant	-	NC_000013.11:g.77918554A>T	UniProt
VAR_014676	p.Leu17Phe	missense variant	-	NC_000013.11:g.77918525G>A	UniProt
VAR_078312	p.Leu17Pro	Missense	-	-	UniProt
VAR_014677	p.Phe112Val	missense variant	-	NC_000013.11:g.77918240A>C	UniProt
VAR_078313	p.Asn137Tyr	Missense	-	-	UniProt
VAR_078314	p.Pro156Arg	Missense	-	-	UniProt
VAR_003470	p.Ala183Gly	missense variant	Waardenburg syndrome 4A (WS4A)	NC_000013.11:g.77903543G>C	UniProt
VAR_078315	p.Trp226_Ser442del	inframe_deletion	-	-	UniProt
VAR_014678	p.Thr244Met	missense variant	-	NC_000013.11:g.77903226G>A	UniProt
VAR_003471	p.Trp276Cys	missense variant	Hirschsprung disease 2 (HSCR2)	NC_000013.11:g.77901181C>A	UniProt
VAR_015294	p.Phe292Leu	Missense	Waardenburg syndrome 4A (WS4A) [MIM:277580]	-	UniProt
VAR_003472	p.Ser305Asn	missense variant	-	NC_000013.11:g.77901095C>T	UniProt
VAR_003474	p.Met374Ile	Missense	Hirschsprung disease 2 (HSCR2) [MIM:600155]	-	UniProt

Showing 1 to 20 of 329 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0000737	Abdominal Pain	phenotype	HPO
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0001486	Adenovirus Infections	group	BEFREE
C0001883	Airway Obstruction	group	LHGDN
C0001916	Albinism	disease	HPO
C0001973	Alcoholic Intoxication, Chronic	disease	BEFREE
C0003130	Anoxia	phenotype	LHGDN
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004096	Asthma	disease	BEFREE;LHGDN;RGD
C0004114	Astrocytoma	disease	BEFREE
C0004153	Atherosclerosis	disease	LHGDN
C0004238	Atrial Fibrillation	disease	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007112	Adenocarcinoma of prostate	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE;LHGDN

Showing 1 to 20 of 223 entries

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0004962	endothelin receptor activity	IDA
GO:0004962	endothelin receptor activity	IMP
GO:0005515	protein binding	IPI
GO:0017046	peptide hormone binding	IPI
GO:0031702	type 1 angiotensin receptor binding	IEA

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
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
GO:0007186	G protein-coupled receptor signaling pathway	TAS
GO:0007194	negative regulation of adenylate cyclase activity	TAS
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA
GO:0007399	nervous system development	TAS
GO:0007422	peripheral nervous system development	IEA
GO:0007497	posterior midgut development	IEA
GO:0007568	aging	IEA
GO:0008217	regulation of blood pressure	IEA
GO:0008284	positive regulation of cell population proliferation	IEA
GO:0014043	negative regulation of neuron maturation	ISS
GO:0014070	response to organic cyclic compound	IEA
GO:0014826	vein smooth muscle contraction	IMP
GO:0019233	sensory perception of pain	IEA

Showing 1 to 20 of 42 entries

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	TAS
GO:0031965	nuclear membrane	IEA
GO:0045121	membrane raft	IEA

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-372790	Signaling by GPCR	TAS
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)	TAS
R-HSA-375276	Peptide ligand-binding receptors	TAS
R-HSA-388396	GPCR downstream signalling	TAS
R-HSA-416476	G alpha (q) signalling events	TAS
R-HSA-500792	GPCR ligand binding	TAS

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C000611646	bisphenol F	bisphenol F results in decreased expression of EDNRB mRNA	30951980
C004648	testosterone enanthate	testosterone enanthate affects the expression of EDNRB mRNA	17440010
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in decreased expression of EDNRB mRNA	25088246
C006703	benzo(b)fluoranthene	[Benzo(a)pyrene co-treated with benz(a)anthracene co-treated with benzo(b)fluoranthene co-treated with chrysene] results in decreased expression of EDNRB mRNA	27858113
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in decreased expression of EDNRB mRNA	26377693
C006780	bisphenol A	bisphenol A results in increased methylation of EDNRB promoter	27271280
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of EDNRB mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of EDNRB mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of EDNRB mRNA	25181051
C007350	nitrofen	Dexamethasone promotes the reaction [nitrofen results in increased expression of EDNRB mRNA]	10693666
C007350	nitrofen	nitrofen results in increased expression of EDNRB mRNA	10693666; 19851775;
C007350	nitrofen	nitrofen results in increased expression of EDNRB protein	19851775
C008261	lead acetate	lead acetate results in increased expression of EDNRB mRNA	22839698
C008493	methylselenic acid	methylselenic acid results in increased expression of EDNRB mRNA	18548127
C008890	phosphoramidon	phosphoramidon results in increased expression of EDNRB protein	15007106
C009495	titanium dioxide	titanium dioxide results in decreased expression of EDNRB mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of EDNRB mRNA	29264374
C010176	halofuginone	halofuginone results in increased expression of EDNRB mRNA	17180598
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of EDNRB mRNA	27188386
C012589	trichostatin A	trichostatin A results in increased expression of EDNRB mRNA	24935251; 26272509;

Showing 1 to 20 of 415 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0015	Albinism
KW-0025	Alternative splicing
KW-0209	Deafness
KW-0225	Disease mutation
KW-0297	G-protein coupled receptor
KW-0325	Glycoprotein
KW-0367	Hirschsprung disease
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0564	Palmitate
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-0732	Signal
KW-0807	Transducer
KW-0812	Transmembrane
KW-0897	Waardenburg syndrome
KW-1003	Cell membrane
KW-1015	Disulfide bond

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Interpro

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InterPro ID	InterPro Term
IPR000276	GPCR_Rhodpsn
IPR000499	Endthln_rcpt
IPR001112	ETB_rcpt
IPR017452	GPCR_Rhodpsn_7TM

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PROSITE

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PROSITE ID	PROSITE Term
PS00237	G_PROTEIN_RECEP_F1_1
PS50262	G_PROTEIN_RECEP_F1_2

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Pfam

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Pfam ID	Pfam Term
PF00001	7tm_1

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Gene: EDNRB

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction