|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
ETB
ET-B
endothelin B receptor
|
|
gptkbp:associatedWith
|
gptkb:Hirschsprung_disease
Waardenburg syndrome type IV
ABC type albinism
|
|
gptkbp:biologicalProcess
|
regulation of blood pressure
neural crest cell migration
melanocyte development
endothelin receptor activity
|
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gptkbp:encodes
|
Endothelin receptor type B protein
|
|
gptkbp:Entrez_Gene_ID
|
1910
ENSG00000136160
|
|
gptkbp:expressedIn
|
neural crest-derived cells
vascular endothelial cells
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
gptkb:endothelin_receptor_type_B
|
|
gptkbp:function
|
gptkb:G_protein-coupled_receptor
binds endothelin-1, endothelin-2, and endothelin-3
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
3173
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
EDNRB
|
|
gptkbp:locatedOnChromosome
|
13
13q22.3
|
|
gptkbp:mutationAssociatedWith
|
gptkb:congenital_aganglionic_megacolon
pigmentation disorders
|
|
gptkbp:OMIM
|
131244
|
|
gptkbp:orthologInMouse
|
Ednrb
|
|
gptkbp:proteinFamily
|
gptkb:G_protein-coupled_receptor
|
|
gptkbp:UniProtID
|
P24530
|
|
gptkbp:bfsParent
|
gptkb:chromosome_13
gptkb:EDRB
gptkb:SOX10
|
|
gptkbp:bfsLayer
|
7
|