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P24530 (EDNRB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 167. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Endothelin B receptor

Short name=ET-B
Short name=ET-BR
Alternative name(s):
Endothelin receptor non-selective type
Gene names
Name:EDNRB
Synonyms:ETRB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length442 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Ref.8

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. Ref.19

Post-translational modification

Palmitoylation of Cys-402 was confirmed by the palmitoylation of Cys-402 in a deletion mutant lacking both Cys-403 and Cys-405. Ref.20

Involvement in disease

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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23 Ref.30

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.22 Ref.24 Ref.25 Ref.26 Ref.28

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

Sequence similarities

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

Sequence caution

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

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Disease mutation
Hirschsprung disease
Waardenburg syndrome
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionG-protein coupled receptor
Receptor
Transducer
   PTMDisulfide bond
Glycoprotein
Lipoprotein
Palmitate
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processaging

Inferred from electronic annotation. Source: Ensembl

cGMP-mediated signaling

Inferred from electronic annotation. Source: Ensembl

cell surface receptor signaling pathway

Traceable author statement Ref.9. Source: ProtInc

cellular response to lipopolysaccharide

Inferred from electronic annotation. Source: Ensembl

endothelin receptor signaling pathway

Inferred from direct assay Ref.3. Source: GOC

enteric nervous system development

Inferred from sequence or structural similarity. Source: BHF-UCL

enteric smooth muscle cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

epithelial fluid transport

Inferred from electronic annotation. Source: Ensembl

macrophage chemotaxis

Inferred from mutant phenotype PubMed 12207323. Source: BHF-UCL

melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

negative regulation of adenylate cyclase activity

Traceable author statement PubMed 9556633. Source: ProtInc

negative regulation of apoptotic process

Inferred from electronic annotation. Source: Ensembl

negative regulation of cellular protein metabolic process

Inferred from mutant phenotype PubMed 19767294. Source: BHF-UCL

negative regulation of neuron maturation

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of transcription from RNA polymerase II promoter

Inferred from mutant phenotype PubMed 19767294. Source: BHF-UCL

nervous system development

Traceable author statement Ref.22. Source: ProtInc

neural crest cell migration

Inferred from electronic annotation. Source: Ensembl

peripheral nervous system development

Inferred from electronic annotation. Source: Ensembl

phospholipase C-activating G-protein coupled receptor signaling pathway

Traceable author statement PubMed 9556633. Source: ProtInc

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cytosolic calcium ion concentration

Inferred from electronic annotation. Source: Ensembl

positive regulation of penile erection

Inferred from electronic annotation. Source: Ensembl

positive regulation of protein phosphorylation

Inferred from electronic annotation. Source: Ensembl

positive regulation of renal sodium excretion

Inferred from electronic annotation. Source: Ensembl

positive regulation of urine volume

Inferred from electronic annotation. Source: Ensembl

posterior midgut development

Inferred from electronic annotation. Source: Ensembl

regulation of blood pressure

Inferred from electronic annotation. Source: Ensembl

regulation of epithelial cell proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of fever generation

Inferred from electronic annotation. Source: Ensembl

regulation of pH

Inferred from electronic annotation. Source: Ensembl

regulation of sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

response to organic cyclic compound

Inferred from electronic annotation. Source: Ensembl

response to pain

Inferred from electronic annotation. Source: Ensembl

sensory perception of pain

Inferred from electronic annotation. Source: Ensembl

vasoconstriction

Inferred from mutant phenotype PubMed 8982507. Source: BHF-UCL

vasodilation

Inferred from electronic annotation. Source: Ensembl

vein smooth muscle contraction

Inferred from mutant phenotype PubMed 8982507. Source: BHF-UCL

   Cellular_componentintegral component of plasma membrane

Traceable author statement Ref.9. Source: ProtInc

membrane raft

Inferred from electronic annotation. Source: Ensembl

nuclear membrane

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionendothelin receptor activity

Inferred from direct assay Ref.3. Source: BHF-UCL

peptide hormone binding

Inferred from physical interaction Ref.3. Source: BHF-UCL

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

EDN1P053052EBI-6624656,EBI-715181

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform A (identifier: P24530-1)

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.
Isoform B (identifier: P24530-2)

The sequence of this isoform differs from the canonical sequence as follows:
     399-442: SCLCCWCQSF...FRSSNKYSSS → AGPHVGNKLV...MWPERKSNNN
Isoform C (identifier: P24530-3)

Also known as: Delta-3;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 442416Endothelin B receptor
PRO_0000012729

Regions

Topological domain27 – 10175Extracellular Potential
Transmembrane102 – 12625Helical; Name=1; Potential
Topological domain127 – 13711Cytoplasmic Potential
Transmembrane138 – 16326Helical; Name=2; Potential
Topological domain164 – 17512Extracellular Potential
Transmembrane176 – 19722Helical; Name=3; Potential
Topological domain198 – 21821Cytoplasmic Potential
Transmembrane219 – 24325Helical; Name=4; Potential
Topological domain244 – 27128Extracellular Potential
Transmembrane272 – 29625Helical; Name=5; Potential
Topological domain297 – 32428Cytoplasmic Potential
Transmembrane325 – 35026Helical; Name=6; Potential
Topological domain351 – 36212Extracellular Potential
Transmembrane363 – 38927Helical; Name=7; Potential
Topological domain390 – 44253Cytoplasmic Potential

Amino acid modifications

Modified residue3051Phosphoserine By similarity
Modified residue4191Phosphoserine By similarity
Modified residue4391Phosphotyrosine By similarity
Modified residue4401Phosphoserine By similarity
Modified residue4411Phosphoserine By similarity
Modified residue4421Phosphoserine By similarity
Lipidation4021S-palmitoyl cysteine Ref.20
Lipidation4031S-palmitoyl cysteine Potential
Lipidation4051S-palmitoyl cysteine Potential
Glycosylation591N-linked (GlcNAc...) Potential
Disulfide bond174 ↔ 255 By similarity

Natural variations

Alternative sequence11M → MNKSTCLMAAETPSKRWRLH CLAFSQRFVRAGPACSSREA CSSPRAGWNPAGFRLPGRWS PFVALHLVCQIREALKLRSG HRTPSGAGSSM in isoform C.
VSP_001878
Alternative sequence399 – 44244SCLCC…KYSSS → AGPHVGNKLVMLFSVNIECD GTVNQNPTMWPERKSNNN in isoform B.
VSP_001879
Natural variant51P → T. Ref.14
Corresponds to variant rs12720160 [ dbSNP | Ensembl ].
VAR_019285
Natural variant71L → Q.
Corresponds to variant rs5345 [ dbSNP | Ensembl ].
VAR_014675
Natural variant171L → F.
Corresponds to variant rs5346 [ dbSNP | Ensembl ].
VAR_014676
Natural variant571G → S Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect. Ref.25 Ref.26 Ref.27 Ref.28
Corresponds to variant rs1801710 [ dbSNP | Ensembl ].
VAR_003469
Natural variant761R → M.
Corresponds to variant rs2228271 [ dbSNP | Ensembl ].
VAR_024255
Natural variant1121F → V.
Corresponds to variant rs5347 [ dbSNP | Ensembl ].
VAR_014677
Natural variant1831A → G in WS4A. Ref.23
VAR_003470
Natural variant2441T → M.
Corresponds to variant rs5350 [ dbSNP | Ensembl ].
VAR_014678
Natural variant2761W → C in HSCR2. Ref.22
VAR_003471
Natural variant2921F → L in WS4A. Ref.30
VAR_015294
Natural variant3051S → N in HSCR2; familial. Ref.14 Ref.24
Corresponds to variant rs5352 [ dbSNP | Ensembl ].
VAR_003472
Natural variant3191R → W in HSCR2; sporadic. Ref.25 Ref.28
Corresponds to variant rs200363611 [ dbSNP | Ensembl ].
VAR_003473
Natural variant3741M → I in HSCR2. Ref.26
VAR_003474
Natural variant3831P → L in HSCR2; familial. Ref.25 Ref.28
VAR_003475

Experimental info

Mutagenesis4021C → S: Abolishes palmitoylation; when associated with S-403 and S-405. Ref.20
Mutagenesis4031C → S: Abolishes palmitoylation; when associated with S-402 and S-405. Ref.20
Mutagenesis4051C → S: Abolishes palmitoylation; when associated with S-402 and S-403. Ref.20
Sequence conflict101R → P in AAB19411. Ref.3
Sequence conflict161V → L Ref.8
Sequence conflict22 – 243SRI → LGV Ref.8
Sequence conflict351R → K Ref.8
Sequence conflict451I → M in BAD92435. Ref.12
Sequence conflict581S → P in BAF83388. Ref.13
Sequence conflict1401I → V Ref.8
Sequence conflict3851A → V in BAF83388. Ref.13
Isoform C:
Sequence conflict79 – 846SGHRTP → RPPDA in AAD24541. Ref.10

Sequences

Sequence LengthMass (Da)Tools
Isoform A [UniParc].

Last modified March 1, 1992. Version 1.
Checksum: CD4F96CF92C7C51E

FASTA44249,644
        10         20         30         40         50         60 
MQPPPSLCGR ALVALVLACG LSRIWGEERG FPPDRATPLL QTAEIMTPPT KTLWPKGSNA 

        70         80         90        100        110        120 
SLARSLAPAE VPKGDRTAGS PPRTISPPPC QGPIEIKETF KYINTVVSCL VFVLGIIGNS 

       130        140        150        160        170        180 
TLLRIIYKNK CMRNGPNILI ASLALGDLLH IVIDIPINVY KLLAEDWPFG AEMCKLVPFI 

       190        200        210        220        230        240 
QKASVGITVL SLCALSIDRY RAVASWSRIK GIGVPKWTAV EIVLIWVVSV VLAVPEAIGF 

       250        260        270        280        290        300 
DIITMDYKGS YLRICLLHPV QKTAFMQFYK TAKDWWLFSF YFCLPLAITA FFYTLMTCEM 

       310        320        330        340        350        360 
LRKKSGMQIA LNDHLKQRRE VAKTVFCLVL VFALCWLPLH LSRILKLTLY NQNDPNRCEL 

       370        380        390        400        410        420 
LSFLLVLDYI GINMASLNSC INPIALYLVS KRFKNCFKSC LCCWCQSFEE KQSLEEKQSC 

       430        440 
LKFKANDHGY DNFRSSNKYS SS 

« Hide

Isoform B [UniParc].

Checksum: A10BD0DD646F981E
Show »

FASTA43648,710
Isoform C (Delta-3) [UniParc].

Checksum: 9734B81C0064F533
Show »

FASTA53259,480

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJQ1042. A46609.
RefSeqNP_000106.1. NM_000115.3.
NP_001116131.1. NM_001122659.2.
NP_001188326.1. NM_001201397.1.
NP_003982.1. NM_003991.3.
UniGeneHs.743195.
Hs.82002.

3D structure databases

ProteinModelPortalP24530.
SMRP24530. Positions 103-403.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108232. 7 interactions.
IntActP24530. 1 interaction.
MINTMINT-107127.

Chemistry

BindingDBP24530.
ChEMBLCHEMBL1785.
DrugBankDB00559. Bosentan.
GuidetoPHARMACOLOGY220.

Protein family/group databases

GPCRDBSearch...

PTM databases

PhosphoSiteP24530.

Polymorphism databases

DMDM119622.

Proteomic databases

PaxDbP24530.
PRIDEP24530.

Protocols and materials databases

DNASU1910.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334286; ENSP00000335311; ENSG00000136160. [P24530-1]
ENST00000377211; ENSP00000366416; ENSG00000136160. [P24530-3]
ENST00000446573; ENSP00000403401; ENSG00000136160. [P24530-2]
GeneID1910.
KEGGhsa:1910.
UCSCuc001vko.2. human. [P24530-1]
uc001vkp.1. human. [P24530-3]
uc010aez.1. human. [P24530-2]

Organism-specific databases

CTD1910.
GeneCardsGC13M078469.
HGNCHGNC:3180. EDNRB.
HPACAB017842.
MIM131244. gene.
142623. phenotype.
277580. phenotype.
600155. phenotype.
600501. phenotype.
neXtProtNX_P24530.
Orphanet388. Hirschsprung disease.
897. Waardenburg-Shah syndrome.
PharmGKBPA27618.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG278704.
HOVERGENHBG051443.
InParanoidP24530.
KOK04198.
OMALHIVIDI.
OrthoDBEOG7HHWS4.
PhylomeDBP24530.
TreeFamTF331292.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkP24530.

Gene expression databases

BgeeP24530.
GenevestigatorP24530.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000499. Endthln_rcpt.
IPR001112. ETB_rcpt.
IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
[Graphical view]
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00571. ENDOTHELINBR.
PR00366. ENDOTHELINR.
PR00237. GPCRRHODOPSN.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiEndothelin_receptor_type_B.
GenomeRNAi1910.
NextBio7779.
PROP24530.
SOURCESearch...

Entry information

Entry nameEDNRB_HUMAN
AccessionPrimary (citable) accession number: P24530
Secondary accession number(s): A2A2Z8 expand/collapse secondary AC list , A8K3T4, O15343, Q59GB1, Q5W0G9, Q8NHM6, Q8NHM7, Q8NHM8, Q8NHM9, Q9UD23, Q9UQK3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: April 16, 2014
This is version 167 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

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