Entity Details

Primary name EDNRB
Entity type gene
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Details

PrimaryID1910
RefseqGeneNG_011630
SymbolEDNRB
Nameendothelin receptor type B
Chromosome13
Location13q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-10
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEDNRB_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001755 neural crest cell migration
GO:0001934 positive regulation of protein phosphorylation
GO:0004962 endothelin receptor activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006885 regulation of pH
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007194 negative regulation of adenylate cyclase activity
GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007399 nervous system development
GO:0007422 peripheral nervous system development
GO:0007497 posterior midgut development
GO:0007568 aging
GO:0008217 regulation of blood pressure
GO:0008284 positive regulation of cell population proliferation
GO:0014043 negative regulation of neuron maturation
GO:0014070 response to organic cyclic compound
GO:0014826 vein smooth muscle contraction
GO:0017046 peptide hormone binding
GO:0019233 sensory perception of pain
GO:0019722 calcium-mediated signaling
GO:0019934 cGMP-mediated signaling
GO:0030318 melanocyte differentiation
GO:0031620 regulation of fever generation
GO:0031702 type 1 angiotensin receptor binding
GO:0031965 nuclear membrane
GO:0032269 negative regulation of cellular protein metabolic process
GO:0035645 enteric smooth muscle cell differentiation
GO:0035810 positive regulation of urine volume
GO:0035815 positive regulation of renal sodium excretion
GO:0042045 epithelial fluid transport
GO:0042310 vasoconstriction
GO:0042311 vasodilation
GO:0043066 negative regulation of apoptotic process
GO:0045121 membrane raft
GO:0048246 macrophage chemotaxis
GO:0048265 response to pain
GO:0048484 enteric nervous system development
GO:0050678 regulation of epithelial cell proliferation
GO:0051930 regulation of sensory perception of pain
GO:0060406 positive regulation of penile erection
GO:0071222 cellular response to lipopolysaccharide
GO:0086100 endothelin receptor signaling pathway
GO:1990839 response to endothelin

Diseases

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Disease IDSourceNameDescription
600501 OMIMABCD syndrome (ABCDS)An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. The disease is caused by variants affecting the gene represented in this entry.
277580 OMIMWaardenburg syndrome 4A (WS4A)A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). The disease is caused by variants affecting the gene represented in this entry.
600155 OMIMHirschsprung disease 2 (HSCR2)A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. The disease is caused by variants affecting the gene represented in this entry.
142623 OMIMHirschsprung disease 1 (HSCR1)A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.