Gene: EDNRB

Basic information

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

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

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEDNRB281750P28088Bos taurusPredictionMore>>
1:1 orthologEDNRB403862F1PB15Canis lupus familiarisPredictionMore>>
1:1 orthologEDNRB102186699A0A452E880Capra hircusPredictionMore>>
1:1 orthologEDNRB1910P24530Homo sapiensPredictionMore>>
1:1 orthologEdnrb13618P48302CPO,CLPMus musculusPublicationMore>>
1:1 orthologEDNRB452613H2Q7N9Pan troglodytesPredictionMore>>
1:1 orthologEDNRB414911P35463Sus scrofaPredictionMore>>
1:1 orthologEDNRB100009477D6CI21Oryctolagus cuniculusPredictionMore>>
1:1 orthologEdnrb50672P21451Rattus norvegicusPredictionMore>>
1:1 orthologednrba30442Q9DGM2Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004962 endothelin receptor activityIDA
GO:0004962 endothelin receptor activityIMP
GO:0005515 protein bindingIPI
GO:0017046 peptide hormone bindingIPI
GO:0031702 type 1 angiotensin receptor bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000122 negative regulation of transcription by RNA polymerase IIISS
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0001755 neural crest cell migrationIEA
GO:0001934 positive regulation of protein phosphorylationIEA
GO:0006885 regulation of pHIEA
GO:0007166 cell surface receptor signaling pathwayTAS
GO:0007186 G protein-coupled receptor signaling pathwayTAS
GO:0007194 negative regulation of adenylate cyclase activityTAS
GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathwayIEA
GO:0007204 positive regulation of cytosolic calcium ion concentrationIEA
GO:0007399 nervous system developmentTAS
GO:0007422 peripheral nervous system developmentIEA
GO:0007497 posterior midgut developmentIEA
GO:0007568 agingIEA
GO:0008217 regulation of blood pressureIEA
GO:0008284 positive regulation of cell population proliferationIEA
GO:0014043 negative regulation of neuron maturationISS
GO:0014070 response to organic cyclic compoundIEA
GO:0014826 vein smooth muscle contractionIMP
GO:0019233 sensory perception of painIEA
GO:0019722 calcium-mediated signalingIMP
GO:0019934 cGMP-mediated signalingIEA
GO:0030318 melanocyte differentiationIEA
GO:0031620 regulation of fever generationIEA
GO:0032269 negative regulation of cellular protein metabolic processIMP
GO:0035645 enteric smooth muscle cell differentiationISS
GO:0035810 positive regulation of urine volumeIEA
GO:0035815 positive regulation of renal sodium excretionIEA
GO:0042045 epithelial fluid transportIEA
GO:0042310 vasoconstrictionIMP
GO:0042311 vasodilationIEA
GO:0043066 negative regulation of apoptotic processIEA
GO:0048246 macrophage chemotaxisIMP
GO:0048265 response to painIEA
GO:0048484 enteric nervous system developmentISS
GO:0050678 regulation of epithelial cell proliferationIEA
GO:0051930 regulation of sensory perception of painIEA
GO:0060406 positive regulation of penile erectionIEA
GO:0071222 cellular response to lipopolysaccharideIEA
GO:0086100 endothelin receptor signaling pathwayIDA
GO:0086100 endothelin receptor signaling pathwayIMP
GO:1990839 response to endothelinIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005623 cellIEA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneTAS
GO:0031965 nuclear membraneIEA
GO:0045121 membrane raftIEA

Reactome Pathway

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

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0015 Albinism
KW-0025 Alternative splicing
KW-1003 Cell membrane
KW-0209 Deafness
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0297 G-protein coupled receptor
KW-0325 Glycoprotein
KW-0367 Hirschsprung disease
KW-0449 Lipoprotein
KW-0472 Membrane
KW-0564 Palmitate
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0675 Receptor
KW-1185 Reference proteome
KW-0732 Signal
KW-0807 Transducer
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0897 Waardenburg syndrome

Interpro

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

PROSITE

PROSITE ID PROSITE Term
PS00237 G_PROTEIN_RECEP_F1_1
PS50262 G_PROTEIN_RECEP_F1_2

Pfam

Pfam ID Pfam Term
PF00001 7tm_1

Protein-protein interaction

Protein-miRNA interaction