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P24530

- EDNRB_HUMAN

UniProt

P24530 - EDNRB_HUMAN

Protein

Endothelin B receptor

Gene

EDNRB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 172 (01 Oct 2014)
      Sequence version 1 (01 Mar 1992)
      Previous versions | rss
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    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

    1. endothelin receptor activity Source: BHF-UCL
    2. peptide hormone binding Source: BHF-UCL
    3. protein binding Source: IntAct

    GO - Biological processi

    1. aging Source: Ensembl
    2. cell surface receptor signaling pathway Source: ProtInc
    3. cellular response to lipopolysaccharide Source: Ensembl
    4. cGMP-mediated signaling Source: Ensembl
    5. endothelin receptor signaling pathway Source: GOC
    6. enteric nervous system development Source: BHF-UCL
    7. enteric smooth muscle cell differentiation Source: BHF-UCL
    8. epithelial fluid transport Source: Ensembl
    9. macrophage chemotaxis Source: BHF-UCL
    10. melanocyte differentiation Source: Ensembl
    11. negative regulation of adenylate cyclase activity Source: ProtInc
    12. negative regulation of apoptotic process Source: Ensembl
    13. negative regulation of cellular protein metabolic process Source: BHF-UCL
    14. negative regulation of neuron maturation Source: BHF-UCL
    15. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    16. nervous system development Source: ProtInc
    17. neural crest cell migration Source: Ensembl
    18. peripheral nervous system development Source: Ensembl
    19. phospholipase C-activating G-protein coupled receptor signaling pathway Source: ProtInc
    20. positive regulation of cell proliferation Source: Ensembl
    21. positive regulation of cytosolic calcium ion concentration Source: Ensembl
    22. positive regulation of penile erection Source: Ensembl
    23. positive regulation of protein phosphorylation Source: Ensembl
    24. positive regulation of renal sodium excretion Source: Ensembl
    25. positive regulation of urine volume Source: Ensembl
    26. posterior midgut development Source: Ensembl
    27. regulation of blood pressure Source: Ensembl
    28. regulation of epithelial cell proliferation Source: Ensembl
    29. regulation of fever generation Source: Ensembl
    30. regulation of pH Source: Ensembl
    31. regulation of sensory perception of pain Source: Ensembl
    32. response to organic cyclic compound Source: Ensembl
    33. response to pain Source: Ensembl
    34. sensory perception of pain Source: Ensembl
    35. vasoconstriction Source: BHF-UCL
    36. vasodilation Source: Ensembl
    37. vein smooth muscle contraction Source: BHF-UCL

    Keywords - Molecular functioni

    G-protein coupled receptor, Receptor, Transducer

    Enzyme and pathway databases

    ReactomeiREACT_14819. Peptide ligand-binding receptors.
    REACT_18283. G alpha (q) signalling events.
    SignaLinkiP24530.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Endothelin B receptor
    Short name:
    ET-B
    Short name:
    ET-BR
    Alternative name(s):
    Endothelin receptor non-selective type
    Gene namesi
    Name:EDNRB
    Synonyms:ETRB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:3180. EDNRB.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. membrane raft Source: Ensembl
    3. nuclear membrane Source: Ensembl
    4. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Waardenburg syndrome 4A (WS4A) [MIM:277580]: A 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).2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti183 – 1831A → G in WS4A. 1 Publication
    VAR_003470
    Natural varianti292 – 2921F → L in WS4A. 1 Publication
    VAR_015294
    Hirschsprung disease 2 (HSCR2) [MIM:600155]: A 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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti276 – 2761W → C in HSCR2. 1 Publication
    VAR_003471
    Natural varianti305 – 3051S → N in HSCR2; familial. 2 Publications
    Corresponds to variant rs5352 [ dbSNP | Ensembl ].
    VAR_003472
    Natural varianti319 – 3191R → W in HSCR2; sporadic. 1 Publication
    Corresponds to variant rs200363611 [ dbSNP | Ensembl ].
    VAR_003473
    Natural varianti374 – 3741M → I in HSCR2. 1 Publication
    VAR_003474
    Natural varianti383 – 3831P → L in HSCR2; familial. 1 Publication
    VAR_003475
    ABCD syndrome (ABCDS) [MIM:600501]: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi402 – 4021C → S: Abolishes palmitoylation; when associated with S-403 and S-405. 1 Publication
    Mutagenesisi403 – 4031C → S: Abolishes palmitoylation; when associated with S-402 and S-405. 1 Publication
    Mutagenesisi405 – 4051C → S: Abolishes palmitoylation; when associated with S-402 and S-403. 1 Publication

    Keywords - Diseasei

    Deafness, Disease mutation, Hirschsprung disease, Waardenburg syndrome

    Organism-specific databases

    MIMi142623. phenotype.
    277580. phenotype.
    600155. phenotype.
    600501. phenotype.
    Orphaneti388. Hirschsprung disease.
    897. Waardenburg-Shah syndrome.
    PharmGKBiPA27618.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 442416Endothelin B receptorPRO_0000012729Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi59 – 591N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi174 ↔ 255PROSITE-ProRule annotation
    Modified residuei305 – 3051PhosphoserineBy similarity
    Lipidationi402 – 4021S-palmitoyl cysteine1 Publication
    Lipidationi403 – 4031S-palmitoyl cysteineSequence Analysis
    Lipidationi405 – 4051S-palmitoyl cysteineSequence Analysis
    Modified residuei419 – 4191PhosphoserineBy similarity
    Modified residuei439 – 4391PhosphotyrosineBy similarity
    Modified residuei440 – 4401PhosphoserineBy similarity
    Modified residuei441 – 4411PhosphoserineBy similarity
    Modified residuei442 – 4421PhosphoserineBy similarity

    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

    MaxQBiP24530.
    PaxDbiP24530.
    PRIDEiP24530.

    PTM databases

    PhosphoSiteiP24530.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiP24530.
    GenevestigatoriP24530.

    Organism-specific databases

    HPAiCAB017842.

    Interactioni

    Binary interactionsi

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

    Protein-protein interaction databases

    BioGridi108232. 7 interactions.
    IntActiP24530. 1 interaction.
    MINTiMINT-107127.

    Structurei

    3D structure databases

    ProteinModelPortaliP24530.
    SMRiP24530. Positions 103-398.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini27 – 10175ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini127 – 13711CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini164 – 17512ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini198 – 21821CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini244 – 27128ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini297 – 32428CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini351 – 36212ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini390 – 44253CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei102 – 12625Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei138 – 16326Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei176 – 19722Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei219 – 24325Helical; Name=4Sequence AnalysisAdd
    BLAST
    Transmembranei272 – 29625Helical; Name=5Sequence AnalysisAdd
    BLAST
    Transmembranei325 – 35026Helical; Name=6Sequence AnalysisAdd
    BLAST
    Transmembranei363 – 38927Helical; Name=7Sequence AnalysisAdd
    BLAST

    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

    eggNOGiNOG278704.
    HOVERGENiHBG051443.
    InParanoidiP24530.
    KOiK04198.
    OMAiLHIVIDI.
    OrthoDBiEOG7HHWS4.
    PhylomeDBiP24530.
    TreeFamiTF331292.

    Family and domain databases

    Gene3Di1.20.1070.10. 1 hit.
    InterProiIPR000499. Endthln_rcpt.
    IPR001112. ETB_rcpt.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    [Graphical view]
    PfamiPF00001. 7tm_1. 1 hit.
    [Graphical view]
    PRINTSiPR00571. ENDOTHELINBR.
    PR00366. ENDOTHELINR.
    PR00237. GPCRRHODOPSN.
    PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view]

    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

    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

    MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT    50
    KTLWPKGSNA SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF 100
    KYINTVVSCL VFVLGIIGNS TLLRIIYKNK CMRNGPNILI ASLALGDLLH 150
    IVIDIPINVY KLLAEDWPFG AEMCKLVPFI QKASVGITVL SLCALSIDRY 200
    RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF DIITMDYKGS 250
    YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 300
    LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY 350
    NQNDPNRCEL LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC 400
    LCCWCQSFEE KQSLEEKQSC LKFKANDHGY DNFRSSNKYS SS 442
    Length:442
    Mass (Da):49,644
    Last modified:March 1, 1992 - v1
    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

    Sequence cautioni

    The sequence BAD92435.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti10 – 101R → P in AAB19411. (PubMed:1713452)Curated
    Sequence conflicti16 – 161V → L(PubMed:7536888)Curated
    Sequence conflicti22 – 243SRI → LGV(PubMed:7536888)Curated
    Sequence conflicti35 – 351R → K(PubMed:7536888)Curated
    Sequence conflicti45 – 451I → M in BAD92435. 1 PublicationCurated
    Sequence conflicti58 – 581S → P in BAF83388. (PubMed:14702039)Curated
    Sequence conflicti140 – 1401I → V(PubMed:7536888)Curated
    Sequence conflicti385 – 3851A → V in BAF83388. (PubMed:14702039)Curated
    Isoform C (identifier: P24530-3)
    Sequence conflicti79 – 846SGHRTP → RPPDA in AAD24541. (PubMed:10072757)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti5 – 51P → T.1 Publication
    Corresponds to variant rs12720160 [ dbSNP | Ensembl ].
    VAR_019285
    Natural varianti7 – 71L → Q.
    Corresponds to variant rs5345 [ dbSNP | Ensembl ].
    VAR_014675
    Natural varianti17 – 171L → F.
    Corresponds to variant rs5346 [ dbSNP | Ensembl ].
    VAR_014676
    Natural varianti57 – 571G → S Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect. 3 Publications
    Corresponds to variant rs1801710 [ dbSNP | Ensembl ].
    VAR_003469
    Natural varianti76 – 761R → M.
    Corresponds to variant rs2228271 [ dbSNP | Ensembl ].
    VAR_024255
    Natural varianti112 – 1121F → V.
    Corresponds to variant rs5347 [ dbSNP | Ensembl ].
    VAR_014677
    Natural varianti183 – 1831A → G in WS4A. 1 Publication
    VAR_003470
    Natural varianti244 – 2441T → M.
    Corresponds to variant rs5350 [ dbSNP | Ensembl ].
    VAR_014678
    Natural varianti276 – 2761W → C in HSCR2. 1 Publication
    VAR_003471
    Natural varianti292 – 2921F → L in WS4A. 1 Publication
    VAR_015294
    Natural varianti305 – 3051S → N in HSCR2; familial. 2 Publications
    Corresponds to variant rs5352 [ dbSNP | Ensembl ].
    VAR_003472
    Natural varianti319 – 3191R → W in HSCR2; sporadic. 1 Publication
    Corresponds to variant rs200363611 [ dbSNP | Ensembl ].
    VAR_003473
    Natural varianti374 – 3741M → I in HSCR2. 1 Publication
    VAR_003474
    Natural varianti383 – 3831P → L in HSCR2; familial. 1 Publication
    VAR_003475

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11M → MNKSTCLMAAETPSKRWRLH CLAFSQRFVRAGPACSSREA CSSPRAGWNPAGFRLPGRWS PFVALHLVCQIREALKLRSG HRTPSGAGSSM in isoform C. 1 PublicationVSP_001878
    Alternative sequencei399 – 44244SCLCC…KYSSS → AGPHVGNKLVMLFSVNIECD GTVNQNPTMWPERKSNNN in isoform B. 1 PublicationVSP_001879Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAM16893.1.
    AL139002 Genomic DNA. Translation: CAH72430.1.
    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_000115.3. [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.743195.
    Hs.82002.

    Genome annotation databases

    EnsembliENST00000334286; ENSP00000335311; ENSG00000136160. [P24530-1]
    ENST00000377211; ENSP00000366416; ENSG00000136160. [P24530-3]
    GeneIDi1910.
    KEGGihsa:1910.
    UCSCiuc001vko.2. human. [P24530-1]
    uc001vkp.1. human. [P24530-3]
    uc010aez.1. human. [P24530-2]

    Polymorphism databases

    DMDMi119622.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAM16893.1 .
    AL139002 Genomic DNA. Translation: CAH72430.1 .
    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_000115.3. [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.743195.
    Hs.82002.

    3D structure databases

    ProteinModelPortali P24530.
    SMRi P24530. Positions 103-398.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108232. 7 interactions.
    IntActi P24530. 1 interaction.
    MINTi MINT-107127.

    Chemistry

    BindingDBi P24530.
    ChEMBLi CHEMBL2096678.
    DrugBanki DB00559. Bosentan.
    GuidetoPHARMACOLOGYi 220.

    Protein family/group databases

    GPCRDBi Search...

    PTM databases

    PhosphoSitei P24530.

    Polymorphism databases

    DMDMi 119622.

    Proteomic databases

    MaxQBi P24530.
    PaxDbi P24530.
    PRIDEi P24530.

    Protocols and materials databases

    DNASUi 1910.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334286 ; ENSP00000335311 ; ENSG00000136160 . [P24530-1 ]
    ENST00000377211 ; ENSP00000366416 ; ENSG00000136160 . [P24530-3 ]
    GeneIDi 1910.
    KEGGi hsa:1910.
    UCSCi uc001vko.2. human. [P24530-1 ]
    uc001vkp.1. human. [P24530-3 ]
    uc010aez.1. human. [P24530-2 ]

    Organism-specific databases

    CTDi 1910.
    GeneCardsi GC13M078469.
    GeneReviewsi EDNRB.
    HGNCi HGNC:3180. EDNRB.
    HPAi CAB017842.
    MIMi 131244. gene.
    142623. phenotype.
    277580. phenotype.
    600155. phenotype.
    600501. phenotype.
    neXtProti NX_P24530.
    Orphaneti 388. Hirschsprung disease.
    897. Waardenburg-Shah syndrome.
    PharmGKBi PA27618.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG278704.
    HOVERGENi HBG051443.
    InParanoidi P24530.
    KOi K04198.
    OMAi LHIVIDI.
    OrthoDBi EOG7HHWS4.
    PhylomeDBi P24530.
    TreeFami TF331292.

    Enzyme and pathway databases

    Reactomei REACT_14819. Peptide ligand-binding receptors.
    REACT_18283. G alpha (q) signalling events.
    SignaLinki P24530.

    Miscellaneous databases

    GeneWikii Endothelin_receptor_type_B.
    GenomeRNAii 1910.
    NextBioi 7779.
    PROi P24530.
    SOURCEi Search...

    Gene expression databases

    Bgeei P24530.
    Genevestigatori P24530.

    Family and domain databases

    Gene3Di 1.20.1070.10. 1 hit.
    InterProi IPR000499. Endthln_rcpt.
    IPR001112. ETB_rcpt.
    IPR000276. GPCR_Rhodpsn.
    IPR017452. GPCR_Rhodpsn_7TM.
    [Graphical view ]
    Pfami PF00001. 7tm_1. 1 hit.
    [Graphical view ]
    PRINTSi PR00571. ENDOTHELINBR.
    PR00366. ENDOTHELINR.
    PR00237. GPCRRHODOPSN.
    PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
    PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and sequence analysis of a cDNA encoding human non-selective type of endothelin receptor."
      Nakamuta M., Takayanagi R., Sakai Y., Sakamoto S., Hagiwara H., Mizuno T., Saito Y., Hirose S., Yamamoto M., Nawata H.
      Biochem. Biophys. Res. Commun. 177:34-39(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    2. "Molecular cloning of a non-isopeptide-selective human endothelin receptor."
      Ogawa Y., Nakao K., Arai H., Nakagawa O., Hosoda K., Suga S., Nakanishi S., Imura H.
      Biochem. Biophys. Res. Commun. 178:248-255(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    3. "Cloning and functional expression of human cDNA for the ETB endothelin receptor."
      Sakamoto A., Yanagisawa M., Sakurai T., Takuwa Y., Yanagisawa H., Masaki T.
      Biochem. Biophys. Res. Commun. 178:656-663(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    4. "Molecular cloning of human endothelin (ET) receptors ETA and ETB."
      Haendler B., Hechler U., Schleuning W.-D.
      J. Cardiovasc. Pharmacol. 20:S1-S4(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
      Tissue: Lung.
    5. "Molecular cloning of human endothelin receptors and their expression in vascular endothelial cells and smooth muscle cells."
      Arai H., Nakao K., Hosoda K., Ogawa Y., Nakagawa O., Komatsu Y., Imura H.
      Jpn. Circ. J. 56:1303-1307(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    6. "The human endothelin-B receptor gene. Structural organization and chromosomal assignment."
      Arai H., Nakao K., Takaya K., Hosoda K., Ogawa Y., Nakanishi S., Imura H.
      J. Biol. Chem. 268:3463-3470(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    7. "Molecular characterization and regulation of the human endothelin receptors."
      Elshourbagy N.A., Korman D.R., Wu H.L., Sylvester D.R., Lee J.A., Nuthalaganti P., Bergsma D.J., Kumar C.S., Nambi P.
      J. Biol. Chem. 268:3873-3879(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    8. "Cloning and expression of an endothelin receptor subtype B from human prostate that mediates contraction."
      Webb M.L., Chao C.-C., Rizzo M., Shapiro R.A., Neubauer M., Liu E.C.K., Aversa C.R., Brittain R.J., Treiger B.
      Mol. Pharmacol. 47:730-737(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A), FUNCTION.
      Tissue: Prostate.
    9. "Molecular characterization of a novel human endothelin receptor splice variant."
      Elshourbagy N.A., Adamou J.E., Gagnon A.W., Wu H.L., Pullen M., Nambi P.
      J. Biol. Chem. 271:25300-25307(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM B).
      Tissue: Placenta.
    10. "Novel endothelin B receptor transcripts with the potential of generating a new receptor."
      Tsutsumi M., Liang G., Jones P.A.
      Gene 228:43-49(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C).
    11. "cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
      Warren C.N., Aronstam R.S., Sharma S.V.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Placenta.
    12. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Brain.
    13. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Lung.
    14. NIEHS SNPs program
      Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-5 AND ASN-305.
    15. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    16. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    17. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
      Tissue: Skin.
    18. "Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome."
      Zaahl M.G., du Plessis L., Warnich L., Kotze M.J., Moore S.W.
      Mol. Cell. Probes 17:49-54(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-102; 172-196 AND 200-317.
    19. "Endothelin-1 and ETA receptor expression in vascular smooth muscle cells from human placenta: a new ETA receptor messenger ribonucleic acid is generated by alternative splicing of exon 3."
      Bourgeois C., Robert B., Rebourcet R., Mondon F., Mignot T.-M., Duc-Goiran P., Ferre F.
      J. Clin. Endocrinol. Metab. 82:3116-3123(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    20. "Palmitoylation of human endothelinB. Its critical role in G protein coupling and a differential requirement for the cytoplasmic tail by G protein subtypes."
      Okamoto Y., Ninomiya H., Tanioka M., Sakamoto A., Miwa S., Masaki T.
      J. Biol. Chem. 272:21589-21596(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: PALMITOYLATION AT CYS-402; CYS-403 AND CYS-405, MUTAGENESIS OF CYS-402; CYS-403 AND CYS-405.
    21. "Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype."
      Hofstra R.M.W., Osinga J., Buys C.H.C.M.
      Eur. J. Hum. Genet. 5:180-185(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    22. "A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease."
      Puffenberger E.G., Hosoda K., Washington S.S., Nakao K., Dewit D., Yanagisawa M., Chakravarti A.
      Cell 79:1257-1266(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HSCR2 CYS-276.
    23. "Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease."
      Attie T., Till M., Pelet A., Amiel J., Edery P., Boutrand L., Munnich A., Lyonnet S.
      Hum. Mol. Genet. 4:2407-2409(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS4A GLY-183.
    24. "Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population."
      Auricchio A., Casari G., Staiano A., Ballabio A.
      Hum. Mol. Genet. 5:351-354(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HSCR2 ASN-305.
    25. "Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease."
      Amiel J., Attie T., Jan D., Pelet A., Edery P., Bidaud C., Lacombe D., Tam P., Simeoni J., Flori E., Nihoul-Fekete C., Munnich A., Lyonnet S.
      Hum. Mol. Genet. 5:355-357(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HSCR2 TRP-319 AND LEU-383, VARIANT SER-57.
    26. "A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)."
      Hofstra R.M.W., Tan-Sindhunata G., Wu Y., Kamsteeg E.-J., Stulp R.P., van Ravenswaaij-Arts C., Majoor-Krakauer D., Angrist M., Chakravarti A., Meijers C., Buys C.H.C.M.
      Nat. Genet. 12:445-447(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HSCR2 ILE-374, VARIANT SER-57.
    27. "Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B)."
      Svensson P.J., Anvret M., Molander M.L., Nordenskjold A.
      Hum. Genet. 103:145-148(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-57.
    28. "Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling."
      Fuchs S., Amiel J., Claudel S., Lyonnet S., Corvol P., Pinet F.
      Mol. Med. 7:115-124(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS HSCR2 TRP-319 AND LEU-383, CHARACTERIZATION OF VARIANT SER-57.
    29. "ABCD syndrome is caused by a homozygous mutation in the EDNRB gene."
      Verheij J.B., Kunze J., Osinga J., van Essen A.J., Hofstra R.M.
      Am. J. Med. Genet. 108:223-225(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ABCD SYNDROME.
    30. "SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism."
      Pingault V., Girard M., Bondurand N., Dorkins H., Van Maldergem L., Mowat D., Shimotake T., Verma I., Baumann C., Goossens M.
      Hum. Genet. 111:198-206(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT WS4A LEU-292.

    Entry informationi

    Entry nameiEDNRB_HUMAN
    AccessioniPrimary (citable) accession number: P24530
    Secondary accession number(s): A2A2Z8
    , A8K3T4, O15343, Q59GB1, Q5W0G9, Q8NHM6, Q8NHM7, Q8NHM8, Q8NHM9, Q9UD23, Q9UQK3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 1992
    Last sequence update: March 1, 1992
    Last modified: October 1, 2014
    This is version 172 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3