|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:NPHP6
gptkb:nephrocystin-6
|
|
gptkbp:associatedWith
|
gptkb:Leber_congenital_amaurosis
gptkb:Bardet-Biedl_syndrome
gptkb:Joubert_syndrome
gptkb:Meckel_syndrome
gptkb:Senior-Loken_syndrome
|
|
gptkbp:discoveredIn
|
2004
|
|
gptkbp:encodes
|
gptkb:centrosomal_protein_290
|
|
gptkbp:Entrez_Gene_ID
|
80184
ENSG00000198707
|
|
gptkbp:expressedIn
|
gptkb:kidney
brain
retina
|
|
gptkbp:function
|
centrosome function
ciliogenesis
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:29018
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CEP290
|
|
gptkbp:interactsWith
|
gptkb:BBS_proteins
gptkb:IFT_proteins
gptkb:NPHP5
gptkb:RPGR
|
|
gptkbp:length
|
2479 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
|
|
gptkbp:mutationAssociatedWith
|
nonsense
intellectual disability
missense
polydactyly
frameshift
splice-site
retinal degeneration
cerebellar malformation
ciliopathy
renal cystic disease
|
|
gptkbp:OMIM
|
610142
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Cep290
|
|
gptkbp:orthologInZebrafish
|
cep290
|
|
gptkbp:pathway
|
cilium assembly
photoreceptor cell maintenance
|
|
gptkbp:proteinFamily
|
C-terminal domain
coiled-coil domain
myosin-tail homology domain
|
|
gptkbp:RefSeq
|
NM_025114
|
|
gptkbp:subcellularLocation
|
basal body
centrosome
ciliary transition zone
|
|
gptkbp:UniProtID
|
O15078
|
|
gptkbp:bfsParent
|
gptkb:EDIT-101
|
|
gptkbp:bfsLayer
|
6
|