Ednrb - endothelin receptor type B Gene

Mus musculus

Also known as ETb; ET-B; ET-BR; ETR-b; Sox10m1

Gene ID: 13618 | Gene type: protein coding

About Ednrb

Chromosome 14: 104,052,061-104,081,838 reverse strand.GRCm39:CM001007.3

This gene has 3 transcripts (splice variants), 263 orthologues, 14 paralogues and is associated with 85 phenotypes. Broad expression in cerebellum adult (RPKM 11.7), CNS E11.5 (RPKM 11.1) and 24 other tissues.

Summary

This gene encodes a member of the G-protein coupled receptor family. It encodes a receptor for endothelins, Peptides that are involved in vasocontriction. The encoded protein activates a phosphatidylinositol-calcium second messenger system and is required for the development of enteric neurons and melanocytes. Gene disruption causes pigmentation anomalies, deafness, and abnormal dilation of the colon due to defects of neural crest-derived cells. Mutations in this gene are found in the piebald mouse, and mouse models of Hirschsprung's disease and Waardenburg syndrome type 4. Renal collecting duct-specific gene deletion causes sodium retention and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Ednrb Products(3)

mRNA	Protein	Name
NM_007904.4	NP_031930.1	endothelin receptor type B precursor
NM_001136061.2	NP_001129533.1	endothelin receptor type B precursor
NM_001276296.1	NP_001263225.1	endothelin receptor type B precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables endothelin receptor activity	IDA IDA: Inferred from direct assay	12441350	MGI
enables endothelin receptor activity	IMP IMP: Inferred from mutant phenotype	11413164	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	12441350	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	12441350	MGI
acts upstream of or within G protein-coupled receptor signaling pathway	IGI IGI: Inferred from genetic interaction	12441350	MGI
involved in aldosterone metabolic process	IMP IMP: Inferred from mutant phenotype	16868309	MGI
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	24722437	MGI
involved in calcium ion transmembrane transport	IGI IGI: Inferred from genetic interaction	24722437	MGI
involved in calcium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	24722437	MGI
involved in canonical Wnt signaling pathway	IGI IGI: Inferred from genetic interaction	24722437	MGI
involved in chordate pharynx development	IDA IDA: Inferred from direct assay	18199583	MGI
involved in chordate pharynx development	IMP IMP: Inferred from mutant phenotype	18199583	MGI
acts upstream of or within developmental pigmentation	IMP IMP: Inferred from mutant phenotype	15322542	MGI
involved in endothelin receptor signaling pathway	IGI IGI: Inferred from genetic interaction	24722437	MGI
involved in endothelin receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	24722437	MGI
involved in enteric nervous system development	IDA IDA: Inferred from direct assay	10021336	MGI
involved in enteric smooth muscle cell differentiation	IDA IDA: Inferred from direct assay	10021336	MGI
involved in establishment of endothelial barrier	IDA IDA: Inferred from direct assay	27026367	MGI
involved in gene expression	IGI IGI: Inferred from genetic interaction	24722437	MGI
involved in gene expression	IMP IMP: Inferred from mutant phenotype	18199583	MGI
involved in heparin metabolic process	IGI IGI: Inferred from genetic interaction	27026367	MGI
acts upstream of or within melanocyte differentiation	IDA IDA: Inferred from direct assay	9012511	MGI
acts upstream of or within melanocyte differentiation	IMP IMP: Inferred from mutant phenotype	2379821	MGI
involved in negative regulation of neuron maturation	IDA IDA: Inferred from direct assay	10021336	MGI
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10021336	MGI
acts upstream of or within neural crest cell migration	IMP IMP: Inferred from mutant phenotype	10591209	MGI
acts upstream of or within neuroblast migration	IMP IMP: Inferred from mutant phenotype	10591209	MGI
acts upstream of or within peripheral nervous system development	IMP IMP: Inferred from mutant phenotype	8582288	MGI
acts upstream of or within pigmentation	IMP IMP: Inferred from mutant phenotype	2379821	MGI
involved in podocyte differentiation	IGI IGI: Inferred from genetic interaction	24722437	MGI
involved in positive regulation of canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	24722437	MGI
acts upstream of or within posterior midgut development	IMP IMP: Inferred from mutant phenotype	8582288	MGI
involved in protein transmembrane transport	IDA IDA: Inferred from direct assay	27026367	MGI
involved in regulation of blood pressure	IGI IGI: Inferred from genetic interaction	16399858	MGI
acts upstream of or within regulation of blood pressure	IMP IMP: Inferred from mutant phenotype	10626068	MGI
involved in regulation of blood pressure	IMP IMP: Inferred from mutant phenotype	16399858	MGI
involved in regulation of heart rate	IGI IGI: Inferred from genetic interaction	16399858	MGI
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	16399858	MGI
acts upstream of or within regulation of pH	IMP IMP: Inferred from mutant phenotype	11413164	MGI
involved in renal albumin absorption	IGI IGI: Inferred from genetic interaction	24722437	MGI
involved in renal sodium excretion	IMP IMP: Inferred from mutant phenotype	16868309	MGI
involved in renal sodium ion absorption	IMP IMP: Inferred from mutant phenotype	23698114	MGI
involved in renin secretion into blood stream	IMP IMP: Inferred from mutant phenotype	16868309	MGI
involved in response to sodium phosphate	IMP IMP: Inferred from mutant phenotype	16868309	MGI
involved in sodium ion homeostasis	IGI IGI: Inferred from genetic interaction	18784261	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Ednrb Protein Structure

7tmA_ET-BR

0
100
200
300
400
442 a.a.

Protein Preferred Names

Protein Names

endothelin receptor type B

endothelin B receptor	endothelin receptor non-selective type
piebald

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04169	EDNRB Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04170	Ednrb Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04171	Ednrb Rat Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ednrb	NCBI	NCBI:1910

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