GUCY2D gene

URI: https://gptkb.org/entity/GUCY2D_gene

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alternativeName	gptkb:ROS-GC1 gptkb:RetGC-1 gptkb:retinal_guanylyl_cyclase_1
gptkbp:associatedWith	gptkb:Leber_congenital_amaurosis gptkb:autosomal_dominant_cone_dystrophy gptkb:cone-rod_dystrophy
gptkbp:encodes	gptkb:guanylate_cyclase_2D
gptkbp:Entrez_Gene_ID	3000
gptkbp:expressedIn	retina
gptkbp:function	phototransduction
gptkbp:HGNC_ID	4686
https://www.w3.org/2000/01/rdf-schema#label	GUCY2D gene
gptkbp:locatedOnChromosome	gptkb:chromosome_17 17p13.1
gptkbp:mutationAssociatedWith	vision loss
gptkbp:OMIM	600179
gptkbp:orthologInMouse	gptkb:Gucy2e
gptkbp:proteinFamily	gptkb:guanylate_cyclase_family
gptkbp:UniProtID	gptkb:Q02846
gptkbp:bfsParent	gptkb:Leber_congenital_amaurosis
gptkbp:bfsLayer	6