Cep290

URI: https://gptkb.org/entity/Cep290
GPTKB entity
Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:NPHP6
gptkbp:associatedWith gptkb:Leber_congenital_amaurosis
gptkb:Bardet-Biedl_syndrome
gptkb:Joubert_syndrome
gptkb:Meckel_syndrome
gptkb:Senior-Loken_syndrome
gptkbp:discoveredIn 2006
gptkbp:encodes gptkb:centrosomal_protein_290
gptkbp:Entrez_Gene_ID 80184
gptkbp:expressedIn gptkb:kidney
brain
retina
gptkbp:function centrosome function
ciliogenesis
https://www.w3.org/2000/01/rdf-schema#label Cep290
gptkbp:locatedOnChromosome gptkb:chromosome_12
gptkbp:mutationAssociatedWith ciliopathies
gptkbp:OMIM 610142
gptkbp:organism gptkb:Homo_sapiens
gptkbp:UniProtID O15078
gptkbp:bfsParent gptkb:CEP290
gptkbp:bfsLayer 7