Ednrb Gene Summary [Mouse]
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]
Details
| Type | Protein Coding |
| Official Symbol | Ednrb |
| Official Name | endothelin receptor type B [Source:MGI Symbol;Acc:MGI:102720] |
| Ensembl ID | ENSMUSG00000022122 |
| Bio databases IDs | |
| Aliases | endothelin receptor type B |
| Synonyms | ABCDS, Ednra, ENDOTHELIN B, endothelin receptor type B, ET-B, ETB1, ET-BR, ETB receptor, ETR-b, GUSB, HSCR, HSCR2, LINC00439, Sox10m1, WS4A |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ednrb often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G-protein coupled receptor
- intracellular loop
- Cholecystokinin A receptor, N-terminal
- cytoplasmic loop
- G-protein-coupled receptor binding
- transmembrane domain
- endothelin receptor
- 7 transmembrane receptor (rhodopsin family)
- protein binding
- seven-transmembrane G protein-coupled receptor superfamily
- polypeptide hormone binding
- transmembrane receptor
Pathways
Biological processes and signaling networks where the Ednrb gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- prostate cancer
- cancer
- neoplasia
- atrial septal defect
- pulmonary hypertension
- pulmonary hypertensive arterial disease
- WHO functional class II-III pulmonary arterial hypertension
- susceptibility to Hirschsprung disease type 2
- chronic thromboembolic pulmonary hypertension
phenotypes
- abnormal Deiters cell morphology
- abnormal blood gas level
- abnormal blood pH regulation
- abnormal bone ossification
- abnormal brain morphology
- abnormal cartilage morphology
- abnormal cell migration
- abnormal choroid pigmentation
- abnormal coat/hair pigmentation
- abnormal cochlea morphology
- abnormal cochlear hair cell morphology
- abnormal cochlear sensory epithelium morphology
- abnormal colon goblet cell morphology
- abnormal colon morphology
- abnormal diaphragm morphology
- abnormal enteric nervous system morphology
- abnormal enteric neuron morphology
- abnormal feces composition
- abnormal foot pigmentation
- abnormal hair follicle melanocyte morphology
- abnormal hearing physiology
- abnormal hindgut morphology
- abnormal inner ear morphology
- abnormal intestinal mucosa morphology
- abnormal intestine physiology
- abnormal large intestine crypts of Lieberkuhn morphology
- abnormal melanocyte proliferation
- abnormal nervous system morphology
- abnormal neuromuscular synapse morphology
- abnormal oxygen level
- abnormal palatal rugae morphology
- abnormal phrenic nerve morphology
- abnormal pigmentation pattern
- abnormal secondary palate development
- abnormal skeleton morphology
- abnormal soft palate morphology
- abnormal stria vascularis morphology
- abnormal tail pigmentation
- absent coat pigmentation
- absent enteric neurons
- absent palatine bone horizontal plate
- absent strial intermediate cells
- aganglionic megacolon
- belly spot
- cachexia
- cleft secondary palate
- cleft upper lip
- cochlear hair cell degeneration
- deafness
- decreased acute inflammation
- decreased body size
- decreased circulating lactate level
- decreased response of heart to induced stress
- decreased vasodilation
- failure of palatal shelf elevation
- head spot
- hypercapnia
- hypoalgesia
- hypocapnia
- hypoxia
- increased cardiac muscle contractility
- increased cardiac output
- increased cell proliferation
- increased mean systemic arterial blood pressure
- increased mitotic index
- intestinal obstruction
- lethality at weaning
- lethality at weaning complete penetrance
- maxillary shelf hypoplasia
- megacolon
- neonatal lethality complete penetrance
- organ of Corti degeneration
- postnatal growth retardation
- postnatal lethality
- postnatal lethality complete penetrance
- postnatal lethality incomplete penetrance
- premature death
- prenatal lethality complete penetrance
- preweaning lethality complete penetrance
- preweaning lethality incomplete penetrance
- respiratory distress
- thin stria vascularis
- variable body spotting
- variable depigmentation
- white spotting
role in cell
- quantity
- expression in
- cell death
- chemotaxis
- proliferation
- apoptosis
- phosphorylation in
- migration
- differentiation
- pigmentation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- Cytoplasm
- cell surface
- cellular membrane
- lysosome
- endoplasmic reticulum membrane
- nuclear envelope
- membrane rafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ednrb gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cGMP-mediated signaling
- negative regulation of adenylate cyclase activity
- negative regulation of neuron maturation
- positive regulation of cell proliferation
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- nervous system development
- positive regulation of penile erection
- vasoconstriction
- vasodilation
- posterior midgut development
- renin secretion into blood stream
- regulation of pH
- response to pain
- negative regulation of transcription from RNA polymerase II promoter
- developmental pigmentation
- enteric nervous system development
- macrophage chemotaxis
- calcium ion transmembrane transport
- canonical Wnt receptor signaling pathway
- renal sodium excretion
- heparin metabolic process
- regulation of epithelial cell proliferation
- calcium-mediated signaling
- negative regulation of protein metabolic process
- positive regulation of urine volume
- protein transmembrane transport
- aldosterone metabolic process
- peripheral nervous system development
- epithelial fluid transport
- cell surface receptor signaling pathway
- response to organic cyclic compound
- phospholipase C-activating G-protein coupled receptor signaling pathway
- establishment of endothelial barrier
- elevation of cytosolic calcium ion concentration
- renal sodium ion absorption
- regulation of heart rate
- melanocyte differentiation
- cellular response to lipopolysaccharide
- neural crest cell migration
- glomerular visceral epithelial cell differentiation
- negative regulation of apoptotic process
- renal albumin absorption
- positive regulation of protein phosphorylation
- vein smooth muscle contraction
- gene expression
- regulation of fever generation
- enteric smooth muscle cell differentiation
Cellular Component
Where in the cell the gene product is active
- nuclear membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- type 1 angiotensin receptor binding
- protein binding
- peptide hormone binding
- endothelin receptor activity