InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EDNRB

Summary

InnateDB Protein

IDBP-40390.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EDNRB

Protein Name

endothelin receptor type B

Synonyms

ABCDS; ET-B; ET-BR; ETB; ETBR; ETRB; HSCR; HSCR2; WS4A;

Species

Homo sapiens

Ensembl Protein

ENSP00000366416

InnateDB Gene

IDBG-40388 (EDNRB)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:7536888}.

Subcellular Localization

Cell membrane; Multi-pass membrane protein.

Disease Associations

Waardenburg syndrome 4A (WS4A) [MIM:277580]: 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). {ECO:0000269PubMed:12189494, ECO:0000269PubMed:8634719}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hirschsprung disease 2 (HSCR2) [MIM:600155]: 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. {ECO:0000269PubMed:8001158, ECO:0000269PubMed:8630503, ECO:0000269PubMed:8852659, ECO:0000269PubMed:8852660}. Note=The disease is caused by mutations affecting the gene represented in this entry.ABCD syndrome (ABCDS) [MIM:600501]: 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. {ECO:0000269PubMed:11891690}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in placental stem villi vessels, but not in cultured placental villi smooth muscle cells. {ECO:0000269PubMed:9284755}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.

Experimentally validated
Total	10 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004930	G-protein coupled receptor activity
GO:0004962	endothelin receptor activity
GO:0005515	protein binding
GO:0017046	peptide hormone binding
GO:0031702	type 1 angiotensin receptor binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001755	neural crest cell migration
GO:0001934	positive regulation of protein phosphorylation
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 proliferation
GO:0014043	negative regulation of neuron maturation
GO:0014070	response to organic cyclic compound
GO:0014826	vein smooth muscle contraction
GO:0019233	sensory perception of pain
GO:0019934	cGMP-mediated signaling
GO:0030318	melanocyte differentiation
GO:0031620	regulation of fever generation
GO:0032269	negative regulation of cellular protein metabolic process
GO:0032496	response to lipopolysaccharide
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:0043473	pigmentation
GO:0048066	developmental pigmentation
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

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031965	nuclear membrane
GO:0045121	membrane raft

Protein Structure and Domains

PDB ID

InterPro

IPR000276 G protein-coupled receptor, rhodopsin-like
IPR000499 Endothelin receptor family
IPR001112 Endothelin receptor B
IPR001556 Bombesin receptor
IPR017452 GPCR, rhodopsin-like, 7TM
IPR019424 7TM GPCR, olfactory receptor/chemoreceptor Srsx
IPR019430 7TM GPCR, serpentine receptor class x (Srx)

PFAM

PF00001
PF10320
PF10328

PRINTS

PR00237
PR00366
PR00571
PR00358

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P24530