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gptkbp:instanceOf
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gptkb:gene
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|
gptkbp:alias
|
ENDRB
HSCR
WS4A
|
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gptkbp:alternativeName
|
ET-B
endothelin B receptor
ETBR
|
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gptkbp:associatedWith
|
gptkb:Hirschsprung_disease
Waardenburg syndrome type IV
|
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gptkbp:discoveredIn
|
1993
|
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gptkbp:encodes
|
Endothelin receptor type B protein
|
|
gptkbp:Entrez_Gene_ID
|
1910
ENSG00000136160
|
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gptkbp:expressedIn
|
widely expressed in neural crest-derived cells
|
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gptkbp:fullName
|
gptkb:endothelin_receptor_type_B
|
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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 gene
|
|
gptkbp:length
|
7 exons
442 amino acids
|
|
gptkbp:locatedOnChromosome
|
13
13q22.3
|
|
gptkbp:mutationAssociatedWith
|
can cause aganglionic megacolon
|
|
gptkbp:OMIM
|
131244
|
|
gptkbp:orthologInMouse
|
Ednrb
|
|
gptkbp:pathway
|
endothelin signaling pathway
|
|
gptkbp:product
|
EDNRB protein
|
|
gptkbp:UniProtID
|
P24530
|
|
gptkbp:bfsParent
|
gptkb:Coat_Color_Dilution_Lethal_(CCDL)
gptkb:endothelin_receptor_type_B
gptkb:Waardenburg-Shah_syndrome
|
|
gptkbp:bfsLayer
|
8
|