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UniProtKB - P24530 (EDNRB_HUMAN)

Entry version 215 (13 Feb 2019)
Sequence version 1 (01 Mar 1992)
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Protein

Endothelin receptor type B

Gene

EDNRB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • endothelin receptor activity Source: BHF-UCL
  • peptide hormone binding Source: BHF-UCL
  • type 1 angiotensin receptor binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P24530

SIGNOR Signaling Network Open Resource

More...SIGNORi		P24530

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Endothelin receptor type BCurated
Short name:
ET-B
Short name:
ET-BR
Alternative name(s):
Endothelin receptor non-selective type
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EDNRBImported
Synonyms:ETRB
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000136160.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:3180 EDNRB

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		131244 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P24530

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini27 – 101ExtracellularSequence analysisAdd BLAST75
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei102 – 126Helical; Name=1Sequence analysisAdd BLAST25
Topological domaini127 – 137CytoplasmicSequence analysisAdd BLAST11
Transmembranei138 – 163Helical; Name=2Sequence analysisAdd BLAST26
Topological domaini164 – 175ExtracellularSequence analysisAdd BLAST12
Transmembranei176 – 197Helical; Name=3Sequence analysisAdd BLAST22
Topological domaini198 – 218CytoplasmicSequence analysisAdd BLAST21
Transmembranei219 – 243Helical; Name=4Sequence analysisAdd BLAST25
Topological domaini244 – 271ExtracellularSequence analysisAdd BLAST28
Transmembranei272 – 296Helical; Name=5Sequence analysisAdd BLAST25
Topological domaini297 – 324CytoplasmicSequence analysisAdd BLAST28
Transmembranei325 – 350Helical; Name=6Sequence analysisAdd BLAST26
Topological domaini351 – 362ExtracellularSequence analysisAdd BLAST12
Transmembranei363 – 389Helical; Name=7Sequence analysisAdd BLAST27
Topological domaini390 – 442CytoplasmicSequence analysisAdd BLAST53

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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).
See also OMIM:277580
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_003470183A → G in WS4A. 1 PublicationCorresponds to variant dbSNP:rs104894388EnsemblClinVar.1
Natural variantiVAR_015294292F → L in WS4A. 1 Publication1
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.
See also OMIM:600155
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003471276W → C in HSCR2. 1 PublicationCorresponds to variant dbSNP:rs104894387EnsemblClinVar.1
Natural variantiVAR_003473319R → W in HSCR2; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs200363611Ensembl.1
Natural variantiVAR_003474374M → I in HSCR2; decreased calcium release; no effect on cell membrane location. 2 Publications1
Natural variantiVAR_003475383P → L in HSCR2; familial; loss of cell membrane location; new cytoplasmic location. 3 Publications1
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.
See also OMIM:600501
Heterozygous mutations in EDNRB may be responsible for Waardenburg syndrome 2, an autosomal dominant disorder characterized by sensorineural deafness and pigmentary disturbances.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi402C → S: Abolishes palmitoylation; when associated with S-403 and S-405. 1 Publication1
Mutagenesisi403C → S: Abolishes palmitoylation; when associated with S-402 and S-405. 1 Publication1
Mutagenesisi405C → S: Abolishes palmitoylation; when associated with S-402 and S-403. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		1910

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		EDNRB

MalaCards human disease database

More...MalaCardsi		EDNRB
MIMi142623 phenotype
277580 phenotype
600155 phenotype
600501 phenotype

Open Targets

More...OpenTargetsi		ENSG00000136160

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		388 Hirschsprung disease
895 Waardenburg syndrome type 2
897 Waardenburg-Shah syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27618

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...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

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EDNRB

Domain mapping of disease mutations (DMDM)

More...DMDMi		119622

<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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 26Sequence analysisAdd BLAST26
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001272927 – 442Endothelin receptor type BAdd BLAST416

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi59N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi174 ↔ 255PROSITE-ProRule annotation
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei305PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi402S-palmitoyl cysteine1 Publication1
Lipidationi403S-palmitoyl cysteineSequence analysis1
Lipidationi405S-palmitoyl cysteineSequence analysis1
Modified residuei419PhosphoserineBy similarity1
Modified residuei439PhosphotyrosineBy similarity1
Modified residuei440PhosphoserineBy similarity1
Modified residuei441PhosphoserineBy similarity1
Modified residuei442PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P24530

MaxQB - The MaxQuant DataBase

More...MaxQBi		P24530

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P24530

PeptideAtlas

More...PeptideAtlasi		P24530

PRoteomics IDEntifications database

More...PRIDEi		P24530

ProteomicsDB human proteome resource

More...ProteomicsDBi		54211
54212 [P24530-2]
54213 [P24530-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P24530

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P24530

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P24530

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136160 Expressed in 217 organ(s), highest expression level in spinal cord

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P24530 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P24530 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB017842
HPA027546

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
EDN1P053052EBI-6624656,EBI-715181

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108232, 33 interactors

Protein interaction database and analysis system

More...IntActi		P24530, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000366416

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P24530

<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

1442
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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 entryMethodResolution (Å)ChainPositionsPDBsum
5GLHX-ray2.80A66-303[»]
A313-395[»]
5GLIX-ray2.50A66-303[»]
A313-395[»]
5X93X-ray2.20A66-303[»]
A311-407[»]
5XPRX-ray3.60A66-303[»]
A311-407[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		P24530

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P24530

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3656 Eukaryota
ENOG410XRW9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154878

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051443

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P24530

KEGG Orthology (KO)

More...KOi		K04198

Identification of Orthologs from Complete Genome Data

More...OMAi		CCWCQSK

Database of Orthologous Groups

More...OrthoDBi		1166960at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P24530

TreeFam database of animal gene trees

More...TreeFami		TF331292

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00571 ENDOTHELINBR
PR00366 ENDOTHELINR
PR00237 GPCRRHODOPSN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform A (identifier: P24530-1) [UniParc]FASTAAdd 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCD4F96CF92C7C51E
GO
Isoform B (identifier: P24530-2) [UniParc]FASTAAdd to basket

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

Show »
Length:436
Mass (Da):48,710
Checksum:iA10BD0DD646F981E
GO
Isoform C (identifier: P24530-3) [UniParc]FASTAAdd to basket
Also known as: Delta-3

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

Show »
Length:532
Mass (Da):59,480
Checksum:i9734B81C0064F533
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y748A0A2R8Y748_HUMAN
Endothelin receptor type B
EDNRB
409Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGF7A0A2R8YGF7_HUMAN
Endothelin receptor type B
EDNRB
162Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SG21A0A0D9SG21_HUMAN
Endothelin receptor type B
EDNRB
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti10R → P in AAB19411 (PubMed:1713452).Curated1
Sequence conflicti16V → L (PubMed:7536888).Curated1
Sequence conflicti22 – 24SRI → LGV (PubMed:7536888).Curated3
Sequence conflicti35R → K (PubMed:7536888).Curated1
Sequence conflicti45I → M in BAD92435 (Ref. 12) Curated1
Sequence conflicti58S → P in BAF83388 (PubMed:14702039).Curated1
Sequence conflicti140I → V (PubMed:7536888).Curated1
Sequence conflicti385A → V in BAF83388 (PubMed:14702039).Curated1
Isoform C (identifier: P24530-3)
Sequence conflicti79 – 84SGHRTP → RPPDA in AAD24541 (PubMed:10072757).Curated6

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0192855P → T1 PublicationCorresponds to variant dbSNP:rs12720160Ensembl.1
Natural variantiVAR_0146757L → Q. Corresponds to variant dbSNP:rs5345Ensembl.1
Natural variantiVAR_01467617L → F Polymorphism; no effect on cell membrane location. 1 PublicationCorresponds to variant dbSNP:rs5346EnsemblClinVar.1
Natural variantiVAR_07831217L → P Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 Publication1
Natural variantiVAR_00346957G → S Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect. 4 PublicationsCorresponds to variant dbSNP:rs1801710EnsemblClinVar.1
Natural variantiVAR_02425576R → M. Corresponds to variant dbSNP:rs2228271Ensembl.1
Natural variantiVAR_014677112F → V. Corresponds to variant dbSNP:rs5347Ensembl.1
Natural variantiVAR_078313137N → 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 Publication1
Natural variantiVAR_078314156P → R Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 Publication1
Natural variantiVAR_003470183A → G in WS4A. 1 PublicationCorresponds to variant dbSNP:rs104894388EnsemblClinVar.1
Natural variantiVAR_078315226 – 442Missing Probable disease-associated mutation found in patients with Waardenburg syndrome 2; loss of cell membrane location; new cytoplasmic location. 1 PublicationAdd BLAST217
Natural variantiVAR_014678244T → M. Corresponds to variant dbSNP:rs5350EnsemblClinVar.1
Natural variantiVAR_003471276W → C in HSCR2. 1 PublicationCorresponds to variant dbSNP:rs104894387EnsemblClinVar.1
Natural variantiVAR_015294292F → L in WS4A. 1 Publication1
Natural variantiVAR_003472305S → N2 PublicationsCorresponds to variant dbSNP:rs5352EnsemblClinVar.1
Natural variantiVAR_003473319R → W in HSCR2; sporadic. 2 PublicationsCorresponds to variant dbSNP:rs200363611Ensembl.1
Natural variantiVAR_003474374M → I in HSCR2; decreased calcium release; no effect on cell membrane location. 2 Publications1
Natural variantiVAR_003475383P → L in HSCR2; familial; loss of cell membrane location; new cytoplasmic location. 3 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0018781M → MNKSTCLMAAETPSKRWRLH CLAFSQRFVRAGPACSSREA CSSPRAGWNPAGFRLPGRWS PFVALHLVCQIREALKLRSG HRTPSGAGSSM in isoform C. 1 Publication1
Alternative sequenceiVSP_001879399 – 442SCLCC…KYSSS → AGPHVGNKLVMLFSVNIECD GTVNQNPTMWPERKSNNN in isoform B. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Protein sequence database of the Protein Information Resource

More...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]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.732046
Hs.743195
Hs.82002

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1910

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1910

UCSC genome browser

More...UCSCi		uc001vko.3 human [P24530-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS45059.1 [P24530-2]
CCDS55902.1 [P24530-3]
CCDS9461.1 [P24530-1]
PIRiA46609 JQ1042
RefSeqiNP_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]
UniGeneiHs.732046
Hs.743195
Hs.82002

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5GLHX-ray2.80A66-303[»]
A313-395[»]
5GLIX-ray2.50A66-303[»]
A313-395[»]
5X93X-ray2.20A66-303[»]
A311-407[»]
5XPRX-ray3.60A66-303[»]
A311-407[»]
ProteinModelPortaliP24530
SMRiP24530
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108232, 33 interactors
IntActiP24530, 1 interactor
STRINGi9606.ENSP00000366416

Chemistry databases

BindingDBiP24530
ChEMBLiCHEMBL1785
DrugBankiDB06403 Ambrisentan
DB00559 Bosentan
DB08932 Macitentan
DB06268 Sitaxentan
GuidetoPHARMACOLOGYi220

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...GPCRDBi		Search...

PTM databases

iPTMnetiP24530
PhosphoSitePlusiP24530
SwissPalmiP24530

Polymorphism and mutation databases

BioMutaiEDNRB
DMDMi119622

Proteomic databases

jPOSTiP24530
MaxQBiP24530
PaxDbiP24530
PeptideAtlasiP24530
PRIDEiP24530
ProteomicsDBi54211
54212 [P24530-2]
54213 [P24530-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		1910
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000334286; 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]
GeneIDi1910
KEGGihsa:1910
UCSCiuc001vko.3 human [P24530-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1910
DisGeNETi1910
EuPathDBiHostDB:ENSG00000136160.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		EDNRB
GeneReviewsiEDNRB
HGNCiHGNC:3180 EDNRB
HPAiCAB017842
HPA027546
MalaCardsiEDNRB
MIMi131244 gene
142623 phenotype
277580 phenotype
600155 phenotype
600501 phenotype
neXtProtiNX_P24530
OpenTargetsiENSG00000136160
Orphaneti388 Hirschsprung disease
895 Waardenburg syndrome type 2
897 Waardenburg-Shah syndrome
PharmGKBiPA27618

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3656 Eukaryota
ENOG410XRW9 LUCA
GeneTreeiENSGT00940000154878
HOVERGENiHBG051443
InParanoidiP24530
KOiK04198
OMAiCCWCQSK
OrthoDBi1166960at2759
PhylomeDBiP24530
TreeFamiTF331292

Enzyme and pathway databases

ReactomeiR-HSA-375276 Peptide ligand-binding receptors
R-HSA-416476 G alpha (q) signalling events
SignaLinkiP24530
SIGNORiP24530

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Endothelin_receptor_type_B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1910

Protein Ontology

More...PROi		PR:P24530

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136160 Expressed in 217 organ(s), highest expression level in spinal cord
ExpressionAtlasiP24530 baseline and differential
GenevisibleiP24530 HS

Family and domain databases

InterProiView protein in InterPro
IPR000499 Endthln_rcpt
IPR001112 ETB_rcpt
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00571 ENDOTHELINBR
PR00366 ENDOTHELINR
PR00237 GPCRRHODOPSN
SMARTiView protein in SMART
SM01381 7TM_GPCR_Srsx, 1 hit
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEDNRB_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P24530
Secondary accession number(s): A2A2Z8
, A8K3T4, O15343, Q59GB1, Q5W0G9, Q8NHM6, Q8NHM7, Q8NHM8, Q8NHM9, Q9UD23, Q9UQK3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: February 13, 2019
This is version 215 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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