EDNRB Gene Summary [Human]
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. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | EDNRB |
| Official Name | endothelin receptor type B [Source:HGNC Symbol;Acc:HGNC:3180] |
| Ensembl ID | ENSG00000136160 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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
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 human 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