endothelin b receptor endothelin b receptor endothelin receptor type b, also known as etb is a protein that in humans is encoded by the ednrb gene. ednrbidentifiersaliasesednrb, abcds, et-b, et-br, etb, etbr, etrb, hscr, hscr2, ws4a, etb1, endothelin receptor type bexternal idsomim: 131244 mgi: 102720 homologene: 89 genecards: ednrb gene location (human)chr.chromosome 13 (human)band13q22.3start77,895,481 bpend77,975,529 bpgene location (mouse)chr.chromosome 14 (mouse)band14 e2.3|14 53.05 cmstart104,052,061 bpend104,081,838 bprna expression patternbgeehumanmouse (ortholog)top expressed inparotid glandexternal globus palliduslower lobe of lungsuperior vestibular nucleusspinal gangliainternal globus pallidusright lungplacentapericardiumtrigeminal gangliontop expressed inirispineal glandglobus pallidusatriumleft lung lobeciliary bodyparaventricular nucleus of hypothalamusexternal carotid arterycerebellar vermislateral hypothalamusmore reference expression databiogpsmore reference expression datagene ontologymolecular 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 / quickgoorthologsspecieshumanmouseentrez191013618ensemblensg00000136160ensmusg00000022122uniprotp24530p48302refseq (mrna)nm_000115nm_001122659nm_001201397nm_003991nm_001136061nm_001276296nm_007904refseq (protein)np_000106np_001116131np_001188326np_003982np_001129533np_001263225np_031930location (ucsc)chr 13: 77.9 – 77.98 mbchr 14: 104.05 – 104.08 mbpubmed searchwikidataview/edit humanview/edit mouse 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. regulation in melanocytic cells the ednrb gene is regulated by the microphthalmia-associated transcription factor. mutations in either gene are links to waardenburg syndrome. clinical significance the multigenic disorder, hirschsprung disease type 2, is due to mutation in endothelin receptor type b gene. animals in horses, a mutation in the middle of the ednrb gene, ile118lys, when homozygous, causes lethal white syndrome. in this mutation, a mismatch in the dna replication causes lysine to be made instead of isoleucine. 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. interactions endothelin receptor type b has been shown to interact with caveolin 1. ligands agonists irl-1620 antagonists a-192,621 bq-788 bosentan (unselective eta / etb antagonist)