Ednrb

NX_P24530 - EDNRB - Endothelin receptor type B - 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.

Three novel mutations were detected as follows: two transversions, A to T and C to A at nucleotides 311 (N104I) and 1170 (S390R), respectively, and a transition, T to C at nucleotide 325 (C109R). To analyze functions … AI172064 56646 Lgals1 Lectin, galactose 3' binding, soluble 1 J02810 24423 Gstm1 Glutathione S-transferase, mu 1 X04229 H32189 565355 50672 Ednrb Endothelin receptor type B X57764 AA818970 U09540 25426 Cyplbl Cytochrome P450 1b1 X83867 AI176856 M14972 50549 Cyp4a10 Cytochrome P450, 4a10 AA924267 D83538 64161 Pik4ca Phosphatidylinositol 4 … They performed functional studies by introducing W276C EDNRB cDNA into CHO cells, which do not express endogenous endothelia receptors, and examined the ET receptor ligand-induced intracellular calcium response. The mutant receptor showed a partial impairment in this assay. The authors conclude that "the mutation is dosage sensitive, in that W276C homozygotes and … Gène EDNRB Concept NCIt. Libellé préfér é: Gène EDNRB; Acronyme CISMeF: EDNRB; Détails. Identifiant d'origine: C105928; CUI UMLS: C1414263; Gène jouant un rôle dans la fonction biologique.

14.06.2021

ET-BR. ETB. ETB1. ETBR. ETRB. HSCR. HSCR2. WS4A.

Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations …

Reviewed-Annotation score: 131244 - ENDOTHELIN RECEPTOR, TYPE B; EDNRB - ENDOTHELIN RECEPTOR, NONSELECTIVE TYPE; ETB;; ETRB; ETBR - EDNRB. EDNRB endothelin receptor type B [ (human)]. Gene ID: 1910, updated on 14- Feb-2021.

EDNRB_BOVIN Accession i: P28088 Primary (citable) accession number: P28088 Secondary accession number(s): Q0VCB3, Q9TSB9: Entry history i: Integrated into UniProtKB/Swiss-Prot: August 1, 1992: Last sequence update: August 1, 1992: Last modified: December 2, …

ET-B. ET-BR. ETB. ETB1. ETBR.

View mouse Ednrb Chr14:103814625-103844402 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression From Entrez Gene: The protein encoded by this gene 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. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene Exon 3 is replaced by a neomycin resistance cassette in this knock-out mutant of the endothelin receptor type B (Ednrb) gene. Ednrb encodes a G protein-coupled receptor expressed in vascular endothelial cells where it is involved in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation. EDNRB is listed in the World's largest and most authoritative dictionary database of abbreviations and acronyms.

Silencing of EDNRB expression has also been shown in nasopharyngeal carcinoma, prostate cancer, … Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations … EDNRB. endothelin receptor type B. Synonyms ABCDS, ET-B, ET-BR, ETB, ETBR, ETRB, HSCR, HSCR2, WS4A. Species Human (1910) , Species Mouse (13618) , Species Rat (50672) , Species … EDNRB: Endothelin receptor type B: GPR37: G protein-coupled receptor 37: EDN3: Endothelin 3: Page of 1 Contact. NEWS ARTICLES; PRESS ROOM; contact@proteinatlas.org; The Project.

The endothelin receptor type B (EDNRB) gene is located in q22 of chromosome 13, GenBank ID 1910, with a length of about 24 Kb, including seven exons and six introns. Its promoter contains a CpG island, which is inactivated during hypermethylation. The product of which, EDNRB protein belongs to the G‐protein‐coupled receptor family. Summary of EDNRB This gene encodes a protein that functions as a signaling mechanism by transmitting information from cell to cell. It also regulates the development and function of blood vessels, the production of certain hormones, and the stimulation of cell growth and division. Mutations can cause cancer (R).

To investigate whether mutations in EDNRB could be related with HSCR in non-inbred populations in Japan, we examined alterations of the gene in 31 isolated patients. Three novel mutations were detected as follows: two transversions, A to T and C to A at nucleotides 311 (N104I) and 1170 (S390R), respectively, and a transition, T to C at nucleotide 325 (C109R). To analyze functions … AI172064 56646 Lgals1 Lectin, galactose 3' binding, soluble 1 J02810 24423 Gstm1 Glutathione S-transferase, mu 1 X04229 H32189 565355 50672 Ednrb Endothelin receptor type B X57764 AA818970 U09540 25426 Cyplbl Cytochrome P450 1b1 X83867 AI176856 M14972 50549 Cyp4a10 Cytochrome P450, 4a10 AA924267 D83538 64161 Pik4ca Phosphatidylinositol 4 … They performed functional studies by introducing W276C EDNRB cDNA into CHO cells, which do not express endogenous endothelia receptors, and examined the ET receptor ligand-induced intracellular calcium response. The mutant receptor showed a partial impairment in this assay.

EDNRB was detected in immunocytochemical section of A431 cells. Enzyme antigen retrieval was performed using IHC enzyme antigen retrieval reagent (AR0022) for 15 mins.

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EDNRB antibody Rabbit Polyclonal from Proteintech validated in Western Blot ( WB), Immunohistochemistry (IHC), Flow Cytometry (FC),Enzyme-linked

Contents. 1 Function; 2 Regulation; 3 Clinical 1 Dec 2018 EDN3/EDNRB pathway controls enteric nervous system and melanocyte development. •. In human, mutations are found in Waardenburg 18 Dec 2009 described three different subtypes of cDNA for EDNRB gene as a consequence of alternative splicing in the 5′ region of the gene.