EDNRB

Functionⁱ

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.1 Publication

GO - Molecular functionⁱ

endothelin receptor activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 1713452
peptide hormone binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 1713452
type 1 angiotensin receptor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

aging Source: Ensembl
calcium-mediated signaling
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 28236341
cell surface receptor signaling pathway
Source: ProtInc
Traceable author statementⁱ
- 8810293
cellular response to lipopolysaccharide Source: Ensembl
cGMP-mediated signaling Source: Ensembl
endothelin receptor signaling pathway
Source: BHF-UCL
Inferred from direct assayⁱ
- 1713452
enteric nervous system development Source: BHF-UCL
enteric smooth muscle cell differentiation Source: BHF-UCL
epithelial fluid transport Source: Ensembl
G protein-coupled receptor signaling pathway Source: Reactome
macrophage chemotaxis
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 12207323
melanocyte differentiation Source: Ensembl
negative regulation of adenylate cyclase activity
Source: ProtInc
Traceable author statementⁱ
- 9556633
negative regulation of apoptotic process Source: Ensembl
negative regulation of cellular protein metabolic process
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19767294
negative regulation of neuron maturation Source: BHF-UCL
negative regulation of transcription by RNA polymerase II
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 19767294
nervous system development
Source: ProtInc
Traceable author statementⁱ
- 8001158
neural crest cell migration Source: Ensembl
peripheral nervous system development Source: Ensembl
phospholipase C-activating G protein-coupled receptor signaling pathway
Source: ProtInc
Traceable author statementⁱ
- 9556633
positive regulation of cell proliferation Source: Ensembl
positive regulation of cytosolic calcium ion concentration Source: Ensembl
positive regulation of penile erection Source: Ensembl
positive regulation of protein phosphorylation Source: Ensembl
positive regulation of renal sodium excretion Source: Ensembl
positive regulation of urine volume Source: Ensembl
posterior midgut development Source: Ensembl
regulation of blood pressure Source: Ensembl
regulation of epithelial cell proliferation Source: Ensembl
regulation of fever generation Source: Ensembl
regulation of pH Source: Ensembl
regulation of sensory perception of pain Source: Ensembl
response to endothelin Source: Ensembl
response to organic cyclic compound Source: Ensembl
response to pain Source: Ensembl
sensory perception of pain Source: Ensembl
vasoconstriction
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 8982507
vasodilation Source: Ensembl
vein smooth muscle contraction
Source: BHF-UCL
Inferred from mutant phenotypeⁱ
- 8982507

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	G-protein coupled receptor, Receptor, Transducer

Molecular function

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

Reactomeⁱ	R-HSA-375276 Peptide ligand-binding receptors R-HSA-416476 G alpha (q) signalling events
SignaLinkⁱ	P24530
SIGNORⁱ	P24530

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Endothelin receptor type BCurated Short name: ET-B Short name: ET-BR Alternative name(s): Endothelin receptor non-selective type
Gene namesⁱ	Name:EDNRBImported Synonyms:ETRB
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 13

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000136160.14
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:3180 EDNRB
MIMⁱ	131244 gene
neXtProtⁱ	NX_P24530

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	27 – 101	ExtracellularSequence analysisAdd BLAST	75
Transmembraneⁱ	102 – 126	Helical; Name=1Sequence analysisAdd BLAST	25
Topological domainⁱ	127 – 137	CytoplasmicSequence analysisAdd BLAST	11
Transmembraneⁱ	138 – 163	Helical; Name=2Sequence analysisAdd BLAST	26
Topological domainⁱ	164 – 175	ExtracellularSequence analysisAdd BLAST	12
Transmembraneⁱ	176 – 197	Helical; Name=3Sequence analysisAdd BLAST	22
Topological domainⁱ	198 – 218	CytoplasmicSequence analysisAdd BLAST	21
Transmembraneⁱ	219 – 243	Helical; Name=4Sequence analysisAdd BLAST	25
Topological domainⁱ	244 – 271	ExtracellularSequence analysisAdd BLAST	28
Transmembraneⁱ	272 – 296	Helical; Name=5Sequence analysisAdd BLAST	25
Topological domainⁱ	297 – 324	CytoplasmicSequence analysisAdd BLAST	28
Transmembraneⁱ	325 – 350	Helical; Name=6Sequence analysisAdd BLAST	26
Topological domainⁱ	351 – 362	ExtracellularSequence analysisAdd BLAST	12
Transmembraneⁱ	363 – 389	Helical; Name=7Sequence analysisAdd BLAST	27
Topological domainⁱ	390 – 442	CytoplasmicSequence analysisAdd BLAST	53

Keywords - Cellular componentⁱ

Cell membrane, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Waardenburg syndrome 4A (WS4A)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease).

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_003470	183	A → G in WS4A. 1 PublicationCorresponds to variant dbSNP:rs104894388EnsemblClinVar.		1
Natural variantⁱVAR_015294	292	F → L in WS4A. 1 Publication		1

Hirschsprung disease 2 (HSCR2)5 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of neural crest development 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.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_003471	276	W → C in HSCR2. 1 PublicationCorresponds to variant dbSNP:rs104894387EnsemblClinVar.	1
Natural variantⁱVAR_003473	319	R → W in HSCR2; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs200363611Ensembl.	1
Natural variantⁱVAR_003474	374	M → I in HSCR2; decreased calcium release; no effect on cell membrane location. 2 Publications	1
Natural variantⁱVAR_003475	383	P → L in HSCR2; familial; loss of cell membrane location; new cytoplasmic location. 3 Publications	1

ABCD syndrome (ABCDS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	402	C → S: Abolishes palmitoylation; when associated with S-403 and S-405. 1 Publication	1
Mutagenesisⁱ	403	C → S: Abolishes palmitoylation; when associated with S-402 and S-405. 1 Publication	1
Mutagenesisⁱ	405	C → S: Abolishes palmitoylation; when associated with S-402 and S-403. 1 Publication	1

Keywords - Diseaseⁱ

Albinism, Deafness, Disease mutation, Hirschsprung disease, Waardenburg syndrome

Organism-specific databases

DisGeNET More...DisGeNETⁱ	1910
GeneReviewsⁱ	EDNRB
MalaCards human disease database More...MalaCardsⁱ	EDNRB
MIMⁱ	142623 phenotype 277580 phenotype 600155 phenotype 600501 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000136160
Orphanetⁱ	388 Hirschsprung disease 895 Waardenburg syndrome type 2 897 Waardenburg-Shah syndrome
PharmGKBⁱ	PA27618

Chemistry databases

ChEMBLⁱ	CHEMBL1785
Drug and drug target database More...DrugBankⁱ	DB06403 Ambrisentan DB00559 Bosentan DB08932 Macitentan DB06268 Sitaxentan
IUPHAR/BPS Guide to PHARMACOLOGY More...GuidetoPHARMACOLOGYⁱ	220

Polymorphism and mutation databases

BioMutaⁱ	EDNRB
DMDMⁱ	119622

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Signal peptideⁱ	1 – 26	Sequence analysisAdd BLAST		26
ChainⁱPRO_0000012729	27 – 442	Endothelin receptor type BAdd BLAST		416

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Glycosylationⁱ	59	N-linked (GlcNAc...) asparagineSequence analysis	1
Disulfide bondⁱ	174 ↔ 255	PROSITE-ProRule annotation
Modified residueⁱ	305	PhosphoserineBy similarity	1
Lipidationⁱ	402	S-palmitoyl cysteine1 Publication	1
Lipidationⁱ	403	S-palmitoyl cysteineSequence analysis	1
Lipidationⁱ	405	S-palmitoyl cysteineSequence analysis	1
Modified residueⁱ	419	PhosphoserineBy similarity	1
Modified residueⁱ	439	PhosphotyrosineBy similarity	1
Modified residueⁱ	440	PhosphoserineBy similarity	1
Modified residueⁱ	441	PhosphoserineBy similarity	1
Modified residueⁱ	442	PhosphoserineBy similarity	1

Post-translational modificationⁱ

Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405.1 Publication

Keywords - PTMⁱ

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P24530
PaxDbⁱ	P24530
PeptideAtlas More...PeptideAtlasⁱ	P24530
PRIDEⁱ	P24530
ProteomicsDBⁱ	54211 54212 [P24530-2] 54213 [P24530-3]

PTM databases

iPTMnetⁱ	P24530
PhosphoSitePlusⁱ	P24530
SwissPalmⁱ	P24530

Expressionⁱ

Tissue specificityⁱ

Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000136160 Expressed in 217 organ(s), highest expression level in spinal cord
ExpressionAtlasⁱ	P24530 baseline and differential
Genevisibleⁱ	P24530 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB017842 HPA027546

HPAⁱ

CAB017842
HPA027546

Interactionⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
EDN1	P05305	2	EBI-6624656,EBI-715181

With

Entry

#Exp.

IntAct

Notes

EDN1

P05305

2

EBI-6624656,EBI-715181

GO - Molecular functionⁱ

type 1 angiotensin receptor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	108232, 33 interactors
IntActⁱ	P24530, 1 interactor
STRINGⁱ	9606.ENSP00000366416

Chemistry databases

BindingDBⁱ

P24530

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	93 – 128	Combined sources	36
Helixⁱ	130 – 133	Combined sources	4
Turnⁱ	134 – 137	Combined sources	4
Helixⁱ	138 – 164	Combined sources	27
Helixⁱ	171 – 203	Combined sources	33
Beta strandⁱ	205 – 207	Combined sources	3
Beta strandⁱ	212 – 214	Combined sources	3
Helixⁱ	216 – 239	Combined sources	24
Beta strandⁱ	240 – 247	Combined sources	8
Beta strandⁱ	250 – 257	Combined sources	8
Helixⁱ	264 – 281	Combined sources	18
Helixⁱ	283 – 303	Combined sources	21
Helixⁱ	313 – 349	Combined sources	37
Beta strandⁱ	352 – 356	Combined sources	5
Helixⁱ	357 – 389	Combined sources	33
Helixⁱ	391 – 401	Combined sources	11

Show more details

3D structure databases

ProteinModelPortalⁱ	P24530
SMRⁱ	P24530
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily.PROSITE-ProRule annotation

Keywords - Domainⁱ

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3656 Eukaryota ENOG410XRW9 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119177
HOVERGENⁱ	HBG051443
InParanoidⁱ	P24530
KEGG Orthology (KO) More...KOⁱ	K04198
OMAⁱ	CCWCQSK
PhylomeDBⁱ	P24530
TreeFamⁱ	TF331292

Family and domain databases

InterProⁱ	View protein in InterPro IPR000499 Endthln_rcpt IPR001112 ETB_rcpt IPR000276 GPCR_Rhodpsn IPR017452 GPCR_Rhodpsn_7TM
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00001 7tm_1, 1 hit
PRINTSⁱ	PR00571 ENDOTHELINBR PR00366 ENDOTHELINR PR00237 GPCRRHODOPSN
SMARTⁱ	View protein in SMART SM01381 7TM_GPCR_Srsx, 1 hit
PROSITEⁱ	View protein in PROSITE PS00237 G_PROTEIN_RECEP_F1_1, 1 hit PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show all Align All

Isoform A (identifier: P24530-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT 
        60         70         80         90        100
KTLWPKGSNA SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF 
       110        120        130        140        150
KYINTVVSCL VFVLGIIGNS TLLRIIYKNK CMRNGPNILI ASLALGDLLH 
       160        170        180        190        200
IVIDIPINVY KLLAEDWPFG AEMCKLVPFI QKASVGITVL SLCALSIDRY 
       210        220        230        240        250
RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF DIITMDYKGS 
       260        270        280        290        300
YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 
       310        320        330        340        350
LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY 
       360        370        380        390        400
NQNDPNRCEL LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC 
       410        420        430        440 
LCCWCQSFEE KQSLEEKQSC LKFKANDHGY DNFRSSNKYS SS

Length:442

Mass (Da):49,644

Last modified:March 1, 1992 - v1

Checksum:ⁱCD4F96CF92C7C51E

GO

Isoform B (identifier: P24530-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
399-442: SCLCCWCQSF...FRSSNKYSSS → AGPHVGNKLV...MWPERKSNNN

« Hide

        10         20         30         40         50
MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT 
        60         70         80         90        100
KTLWPKGSNA SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF 
       110        120        130        140        150
KYINTVVSCL VFVLGIIGNS TLLRIIYKNK CMRNGPNILI ASLALGDLLH 
       160        170        180        190        200
IVIDIPINVY KLLAEDWPFG AEMCKLVPFI QKASVGITVL SLCALSIDRY 
       210        220        230        240        250
RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF DIITMDYKGS 
       260        270        280        290        300
YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 
       310        320        330        340        350
LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY 
       360        370        380        390        400
NQNDPNRCEL LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKAG 
       410        420        430 
PHVGNKLVML FSVNIECDGT VNQNPTMWPE RKSNNN

Show »

Length:436

Mass (Da):48,710

Checksum:ⁱA10BD0DD646F981E

GO

Isoform C (identifier: P24530-3) [UniParc]FASTA Add to basket

Also known as: Delta-3

The sequence of this isoform differs from the canonical sequence as follows:
1-1: M → MNKSTCLMAA...RTPSGAGSSM

« Hide

        10         20         30         40         50
MNKSTCLMAA ETPSKRWRLH CLAFSQRFVR AGPACSSREA CSSPRAGWNP 
        60         70         80         90        100
AGFRLPGRWS PFVALHLVCQ IREALKLRSG HRTPSGAGSS MQPPPSLCGR 
       110        120        130        140        150
ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT KTLWPKGSNA 
       160        170        180        190        200
SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF KYINTVVSCL 
       210        220        230        240        250
VFVLGIIGNS TLLRIIYKNK CMRNGPNILI ASLALGDLLH IVIDIPINVY 
       260        270        280        290        300
KLLAEDWPFG AEMCKLVPFI QKASVGITVL SLCALSIDRY RAVASWSRIK 
       310        320        330        340        350
GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF DIITMDYKGS YLRICLLHPV 
       360        370        380        390        400
QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM LRKKSGMQIA 
       410        420        430        440        450
LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY NQNDPNRCEL 
       460        470        480        490        500
LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC LCCWCQSFEE 
       510        520        530 
KQSLEEKQSC LKFKANDHGY DNFRSSNKYS SS

Show »

Length:532

Mass (Da):59,480

Checksum:ⁱ9734B81C0064F533

GO

Computationally mapped potential isoform sequencesⁱ

There are 3 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A2R8Y748	A0A2R8Y748_HUMAN	Endothelin receptor type B Endothelin receptor type B	EDNRB	409	Annotation score:
A0A2R8YGF7	A0A2R8YGF7_HUMAN	Endothelin receptor type B Endothelin receptor type B	EDNRB	162	Annotation score:
A0A0D9SG21	A0A0D9SG21_HUMAN	Endothelin receptor type B Endothelin receptor type B	EDNRB	78	Annotation score:

Sequence cautionⁱ

The sequence BAD92435 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	10	R → P in AAB19411 (PubMed:1713452).Curated	1
Sequence conflictⁱ	16	V → L (PubMed:7536888).Curated	1
Sequence conflictⁱ	22 – 24	SRI → LGV (PubMed:7536888).Curated	3
Sequence conflictⁱ	35	R → K (PubMed:7536888).Curated	1
Sequence conflictⁱ	45	I → M in BAD92435 (Ref. 12) Curated	1
Sequence conflictⁱ	58	S → P in BAF83388 (PubMed:14702039).Curated	1
Sequence conflictⁱ	140	I → V (PubMed:7536888).Curated	1
Sequence conflictⁱ	385	A → V in BAF83388 (PubMed:14702039).Curated	1
Isoform C (identifier: P24530-3)
Sequence conflictⁱ	79 – 84	SGHRTP → RPPDA in AAD24541 (PubMed:10072757).Curated	6

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_019285	5	P → T1 PublicationCorresponds to variant dbSNP:rs12720160Ensembl.	1
Natural variantⁱVAR_014675	7	L → Q. Corresponds to variant dbSNP:rs5345Ensembl.	1
Natural variantⁱVAR_014676	17	L → F Polymorphism; no effect on cell membrane location. 1 PublicationCorresponds to variant dbSNP:rs5346EnsemblClinVar.	1
Natural variantⁱVAR_078312	17	L → P Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 Publication	1
Natural variantⁱVAR_003469	57	G → S Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect. 4 PublicationsCorresponds to variant dbSNP:rs1801710EnsemblClinVar.	1
Natural variantⁱVAR_024255	76	R → M. Corresponds to variant dbSNP:rs2228271Ensembl.	1
Natural variantⁱVAR_014677	112	F → V. Corresponds to variant dbSNP:rs5347Ensembl.	1
Natural variantⁱVAR_078313	137	N → Y Probable disease-associated mutation found in patients with Waardenburg syndrome 2; decreased calcium release upon endothelin 3 exposure; loss of downstream pathway activation upon endothelin 3 exposure; no effect on cell membrane location; no effect on internalization upon endothelin 3 exposure. 1 Publication	1
Natural variantⁱVAR_078314	156	P → R Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 Publication	1
Natural variantⁱVAR_003470	183	A → G in WS4A. 1 PublicationCorresponds to variant dbSNP:rs104894388EnsemblClinVar.	1
Natural variantⁱVAR_078315	226 – 442	Missing Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 PublicationAdd BLAST	217
Natural variantⁱVAR_014678	244	T → M. Corresponds to variant dbSNP:rs5350EnsemblClinVar.	1
Natural variantⁱVAR_003471	276	W → C in HSCR2. 1 PublicationCorresponds to variant dbSNP:rs104894387EnsemblClinVar.	1
Natural variantⁱVAR_015294	292	F → L in WS4A. 1 Publication	1
Natural variantⁱVAR_003472	305	S → N2 PublicationsCorresponds to variant dbSNP:rs5352EnsemblClinVar.	1
Natural variantⁱVAR_003473	319	R → W in HSCR2; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs200363611Ensembl.	1
Natural variantⁱVAR_003474	374	M → I in HSCR2; decreased calcium release; no effect on cell membrane location. 2 Publications	1
Natural variantⁱVAR_003475	383	P → L in HSCR2; familial; loss of cell membrane location; new cytoplasmic location. 3 Publications	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_001878	1	M → MNKSTCLMAAETPSKRWRLH CLAFSQRFVRAGPACSSREA CSSPRAGWNPAGFRLPGRWS PFVALHLVCQIREALKLRSG HRTPSGAGSSM in isoform C. 1 Publication		1
Alternative sequenceⁱVSP_001879	399 – 442	SCLCC…KYSSS → AGPHVGNKLVMLFSVNIECD GTVNQNPTMWPERKSNNN in isoform B. 1 PublicationAdd BLAST		44

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M74921 mRNA Translation: AAA58465.1 D90402 mRNA Translation: BAA14398.1 S44866 mRNA Translation: AAB19411.1 S57283 mRNA Translation: AAB25531.1 D13168 Genomic DNA Translation: BAA02445.1 L06623 mRNA Translation: AAA52342.1 X99250 mRNA Translation: CAA67623.1 AF114165 mRNA Translation: AAD24541.1 AY275463 mRNA Translation: AAP32295.1 AB209198 mRNA Translation: BAD92435.1 Different initiation. AK290699 mRNA Translation: BAF83388.1 AY547312 Genomic DNA Translation: AAS38516.1 AL139002 Genomic DNA No translation available. CH471093 Genomic DNA Translation: EAW80573.1 CH471093 Genomic DNA Translation: EAW80575.1 BC014472 mRNA Translation: AAH14472.1 AJ458188 Genomic DNA Translation: CAD30645.1 AJ458189 Genomic DNA Translation: CAD30646.1 AJ458190 Genomic DNA Translation: CAD30647.1 AJ458191 Genomic DNA Translation: CAD30648.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS45059.1 [P24530-2] CCDS55902.1 [P24530-3] CCDS9461.1 [P24530-1]
PIRⁱ	A46609 JQ1042
NCBI Reference Sequences More...RefSeqⁱ	NP_000106.1, NM_000115.4 [P24530-1] NP_001116131.1, NM_001122659.2 [P24530-1] NP_001188326.1, NM_001201397.1 [P24530-3] NP_003982.1, NM_003991.3 [P24530-2]
UniGeneⁱ	Hs.732046 Hs.743195 Hs.82002

Genome annotation databases

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
P24530	Endothelin receptor type B, isoform CRA_a		HUMAN		532	UniRef100_P24530
EDNRB isoform 2 (Fragment)		PANTR		78
Isoform C of Endothelin receptor type B		HUMAN		532
Endothelin receptor type B (Fragment)		HUMAN		78
EDNRB isoform 3		PANTR		442
+1
P24530-2	Endothelin receptor type B, isoform CRA_b		HUMAN		436	UniRef100_A0A024R645
EDNRB isoform 4		PANTR		436

Protein	Similar proteins		Species	Score	Length	Source
P24530	Endothelin receptor type B, isoform CRA_a		HUMAN		532	UniRef90_P24530
EDNRB isoform 2 (Fragment)		PANTR		78
Uncharacterized protein		PANPA		532
Uncharacterized protein		NOMLE		532
Endothelin receptor type B		GORGO		532
+25

Protein	Similar proteins		Species	Score	Length	Source
P24530	Endothelin receptor type B		RABIT		441	UniRef50_P24530
Endothelin receptor type B (Fragment)		COTJA		347
Endothelin receptor type B		CANLF		442
Endothelin receptor type B		HORSE		443
Endothelin receptor type B		PIG		443
+138

Cross-referencesⁱ

Web resourcesⁱ

NIEHS-SNPs

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M74921 mRNA Translation: AAA58465.1 D90402 mRNA Translation: BAA14398.1 S44866 mRNA Translation: AAB19411.1 S57283 mRNA Translation: AAB25531.1 D13168 Genomic DNA Translation: BAA02445.1 L06623 mRNA Translation: AAA52342.1 X99250 mRNA Translation: CAA67623.1 AF114165 mRNA Translation: AAD24541.1 AY275463 mRNA Translation: AAP32295.1 AB209198 mRNA Translation: BAD92435.1 Different initiation. AK290699 mRNA Translation: BAF83388.1 AY547312 Genomic DNA Translation: AAS38516.1 AL139002 Genomic DNA No translation available. CH471093 Genomic DNA Translation: EAW80573.1 CH471093 Genomic DNA Translation: EAW80575.1 BC014472 mRNA Translation: AAH14472.1 AJ458188 Genomic DNA Translation: CAD30645.1 AJ458189 Genomic DNA Translation: CAD30646.1 AJ458190 Genomic DNA Translation: CAD30647.1 AJ458191 Genomic DNA Translation: CAD30648.1
CCDSⁱ	CCDS45059.1 [P24530-2] CCDS55902.1 [P24530-3] CCDS9461.1 [P24530-1]
PIRⁱ	A46609 JQ1042
RefSeqⁱ	NP_000106.1, NM_000115.4 [P24530-1] NP_001116131.1, NM_001122659.2 [P24530-1] NP_001188326.1, NM_001201397.1 [P24530-3] NP_003982.1, NM_003991.3 [P24530-2]
UniGeneⁱ	Hs.732046 Hs.743195 Hs.82002

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5GLH	X-ray	2.80	A	66-303	[»]
				A	313-395	[»]
	5GLI	X-ray	2.50	A	66-303	[»]
				A	313-395	[»]
	5X93	X-ray	2.20	A	66-303	[»]
				A	311-407	[»]
	5XPR	X-ray	3.60	A	66-303	[»]
				A	311-407	[»]
ProteinModelPortalⁱ	P24530
SMRⁱ	P24530
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	108232, 33 interactors
IntActⁱ	P24530, 1 interactor
STRINGⁱ	9606.ENSP00000366416

Chemistry databases

BindingDBⁱ	P24530
ChEMBLⁱ	CHEMBL1785
DrugBankⁱ	DB06403 Ambrisentan DB00559 Bosentan DB08932 Macitentan DB06268 Sitaxentan
GuidetoPHARMACOLOGYⁱ	220

Protein family/group databases

GPCRDBⁱ	Search...

GPCRDBⁱ

Search...

PTM databases

iPTMnetⁱ	P24530
PhosphoSitePlusⁱ	P24530
SwissPalmⁱ	P24530

Polymorphism and mutation databases

BioMutaⁱ	EDNRB
DMDMⁱ	119622

Proteomic databases

MaxQBⁱ	P24530
PaxDbⁱ	P24530
PeptideAtlasⁱ	P24530
PRIDEⁱ	P24530
ProteomicsDBⁱ	54211 54212 [P24530-2] 54213 [P24530-3]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	1910
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000334286; ENSP00000335311; ENSG00000136160 [P24530-1] ENST00000377211; ENSP00000366416; ENSG00000136160 [P24530-3] ENST00000475537; ENSP00000487082; ENSG00000136160 [P24530-1] ENST00000626030; ENSP00000486202; ENSG00000136160 [P24530-2] ENST00000646605; ENSP00000494278; ENSG00000136160 [P24530-1] ENST00000646607; ENSP00000493527; ENSG00000136160 [P24530-1] ENST00000646948; ENSP00000493895; ENSG00000136160 [P24530-1]
GeneIDⁱ	1910
KEGGⁱ	hsa:1910
UCSCⁱ	uc001vko.3 human [P24530-1]

Organism-specific databases

CTDⁱ	1910
DisGeNETⁱ	1910
EuPathDBⁱ	HostDB:ENSG00000136160.14
GeneCardsⁱ	EDNRB
GeneReviewsⁱ	EDNRB
HGNCⁱ	HGNC:3180 EDNRB
HPAⁱ	CAB017842 HPA027546
MalaCardsⁱ	EDNRB
MIMⁱ	131244 gene 142623 phenotype 277580 phenotype 600155 phenotype 600501 phenotype
neXtProtⁱ	NX_P24530
OpenTargetsⁱ	ENSG00000136160
Orphanetⁱ	388 Hirschsprung disease 895 Waardenburg syndrome type 2 897 Waardenburg-Shah syndrome
PharmGKBⁱ	PA27618
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3656 Eukaryota ENOG410XRW9 LUCA
GeneTreeⁱ	ENSGT00760000119177
HOVERGENⁱ	HBG051443
InParanoidⁱ	P24530
KOⁱ	K04198
OMAⁱ	CCWCQSK
PhylomeDBⁱ	P24530
TreeFamⁱ	TF331292

Enzyme and pathway databases

Reactomeⁱ	R-HSA-375276 Peptide ligand-binding receptors R-HSA-416476 G alpha (q) signalling events
SignaLinkⁱ	P24530
SIGNORⁱ	P24530

Miscellaneous databases

GeneWikiⁱ	Endothelin_receptor_type_B
GenomeRNAiⁱ	1910
Protein Ontology More...PROⁱ	PR:P24530
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000136160 Expressed in 217 organ(s), highest expression level in spinal cord
ExpressionAtlasⁱ	P24530 baseline and differential
Genevisibleⁱ	P24530 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR000499 Endthln_rcpt IPR001112 ETB_rcpt IPR000276 GPCR_Rhodpsn IPR017452 GPCR_Rhodpsn_7TM
Pfamⁱ	View protein in Pfam PF00001 7tm_1, 1 hit
PRINTSⁱ	PR00571 ENDOTHELINBR PR00366 ENDOTHELINR PR00237 GPCRRHODOPSN
SMARTⁱ	View protein in SMART SM01381 7TM_GPCR_Srsx, 1 hit
PROSITEⁱ	View protein in PROSITE PS00237 G_PROTEIN_RECEP_F1_1, 1 hit PS50262 G_PROTEIN_RECEP_F1_2, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	EDNRB_HUMAN
Accessionⁱ	P24530Primary (citable) accession number: P24530 Secondary accession number(s): A2A2Z8 Q9UQK3
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	March 1, 1992
	Last sequence update:	March 1, 1992
	Last modified:	November 7, 2018
	This is version 212 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM
7-transmembrane G-linked receptors
List of 7-transmembrane G-linked receptor entries

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UniProtKB - P24530 (EDNRB_HUMAN)

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Endothelin receptor type B

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

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Topology

Keywords - Cellular componenti

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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Amino acid modifications

Keywords - PTMi

Proteomic databases

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

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<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

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Chemistry databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

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<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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Sequence databases

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Protein-protein interaction databases

Chemistry databases

Protein family/group databases

PTM databases

Polymorphism and mutation databases

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Protocols and materials databases

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Miscellaneous databases

Gene expression databases

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

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Functionⁱ

GO - Molecular functionⁱ

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Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ