Endothelin receptor type B

Endothelin receptor type B, (ET-B) is a protein that in humans is encoded by the EDNRB gene.^[5]

EDNRB
Identifiers
Aliases	EDNRB, ABCDS, ET-B, ET-BR, ETB, ETBR, ETRB, HSCR, HSCR2, WS4A, ETB1, endothelin receptor type B
External IDs	OMIM: 131244; MGI: 102720; HomoloGene: 89; GeneCards: EDNRB; OMA:EDNRB - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q22.3 Start 77,895,481 bp[1] End 77,975,529 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 E2.3|14 53.05 cM Start 104,052,061 bp[2] End 104,081,838 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland external globus pallidus lower lobe of lung superior vestibular nucleus spinal ganglia dorsal motor nucleus of vagus nerve pars compacta internal globus pallidus pars reticulata right lung Top expressed in iris vestibular sensory epithelium pineal gland gastrula globus pallidus atrium left lung lobe ciliary body migratory enteric neural crest cell paraventricular nucleus of hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function endothelin receptor activity G protein-coupled receptor activity signal transducer activity peptide hormone binding protein binding type 1 angiotensin receptor binding Cellular component integral component of membrane nuclear membrane membrane integral component of plasma membrane membrane raft plasma membrane Biological process enteric smooth muscle cell differentiation negative regulation of adenylate cyclase activity positive regulation of protein phosphorylation peripheral nervous system development positive regulation of renal sodium excretion response to organic cyclic compound regulation of sensory perception of pain positive regulation of urine volume vasoconstriction positive regulation of cytosolic calcium ion concentration epithelial fluid transport ageing vasodilation negative regulation of apoptotic process negative regulation of transcription by RNA polymerase II cGMP-mediated signaling regulation of fever generation nervous system development regulation of blood pressure phospholipase C-activating G protein-coupled receptor signaling pathway cell surface receptor signaling pathway enteric nervous system development vein smooth muscle contraction response to lipopolysaccharide macrophage chemotaxis response to pain neural crest cell migration positive regulation of cell population proliferation posterior midgut development developmental pigmentation pigmentation sensory perception of pain negative regulation of neuron maturation positive regulation of penile erection regulation of epithelial cell proliferation melanocyte differentiation cellular response to lipopolysaccharide regulation of pH signal transduction endothelin receptor signaling pathway calcium-mediated signaling G protein-coupled receptor signaling pathway response to endothelin Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1910 13618 Ensembl ENSG00000136160 ENSMUSG00000022122 UniProt P24530 P48302 RefSeq (mRNA) NM_000115 NM_001122659 NM_001201397 NM_003991 NM_001136061 NM_001276296 NM_007904 RefSeq (protein) NP_000106 NP_001116131 NP_001188326 NP_003982 NP_001129533 NP_001263225 NP_031930 Location (UCSC) Chr 13: 77.9 – 77.98 Mb Chr 14: 104.05 – 104.08 Mb PubMed search [3] [4]
Wikidata
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Function

Endothelin receptor type B is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET₁, ET₂, and ET₃. A splice variant, named SVR, has been described; the sequence of the ETB-SVR receptor is identical to ETRB except for the intracellular C-terminal domain. While both splice variants bind ET₁, they exhibit different responses upon binding which suggests that they may be functionally distinct.^[6]

Regulation

In melanocytic cells the EDNRB gene is regulated by the microphthalmia-associated transcription factor. Mutations in either gene are links to Waardenburg syndrome.^[7][8]

Clinical significance

The multigenic disorder, Hirschsprung disease type 2, is due to mutation in endothelin receptor type B gene.^[9]

Animals

In horses, a mutation in the middle of the EDNRB gene, Ile118Lys, when homozygous, causes Lethal White Syndrome.^[10] In this mutation, a mismatch in the DNA replication causes lysine to be made instead of isoleucine.^[10] The resulting EDNRB protein is unable to fulfill its role in the development of the embryo, limiting the migration of the melanocyte and enteric neuron precursors. A single copy of the EDNRB mutation, the heterozygous state, produces an identifiable and completely benign spotted coat color called frame overo.^[11]

Interactions

Endothelin receptor type B has been shown to interact with Caveolin 1.^[12]

Ligands

Agonists

• IRL-1620^[13]

Antagonists

• A-192,621
• BQ-788
• Bosentan (unselective ET_A / ET_B antagonist)

See also

• Endothelin receptor