Gene Information
Gene NameCEP290
OrganismHomo sapiens (Human)
Gene Length2479
Protein NamesCentrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)
Target Namecep290 messenger rna
Target TypeClinical trial target
Gene Age886 ( ENSG00000198707 )
Evolutionary StageOpisthokonta
AlphaFoldDBO15078
Gene CardCEP290
Uniprot IDO15078
PfamPF16574
In ASDno
Allosteric Predictionno (-0.300239376)
Ortholog in AnimalsAlpaca_ CEP290 ( ortholog_one2one )
Dog_ CEP290 ( ortholog_one2one )
GuineaPig_ CEP290 ( ortholog_one2one )
Macaque_ CEP290 ( ortholog_one2one )
Mouse_ Cep290 ( ortholog_one2one )
Pig_ CEP290 ( ortholog_one2one )
Rat_ Cep290 ( ortholog_one2one )
Rabbit_ CEP290 ( ortholog_one2one )
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityUbiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:16682973}.
Pharmacological Animal ModelsNULL(Chimpanzee);NULL(Mouse);NULL(Rat);0.030952(Rabbit)
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs62635288  rs45502896  rs895126773  rs79705698  rs11104738  rs7970228  rs7307793  rs11104729  rs117852025  rs374852145  rs373711746  rs77778467 
Subcellular location [CC]Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:16682973, ECO:0000269|PubMed:21493627, ECO:0000269|PubMed:21565611, ECO:0000269|PubMed:22797915}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:17705300, ECO:0000269|PubMed:21493627, ECO:0000269|PubMed:22797915, ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:24121310}. Nucleus {ECO:0000250|UniProtKB:Q6A078}. Cell projection, cilium {ECO:0000269|PubMed:23943788}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q6A078}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:22797915}. Cytoplasmic vesicle {ECO:0000303|PubMed:24051377}. Note=Displaced from centriolar satellites in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock (PubMed:24121310). Found in the connecting cilium of photoreceptor cells, base of cilium in kidney intramedullary collecting duct cells (By similarity). Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23943788). Localization at the ciliary transition zone as well as at centriolar satellites is BBsome-dependent (PubMed:23943788). {ECO:0000250|UniProtKB:Q6A078, ECO:0000269|PubMed:23943788, ECO:0000269|PubMed:24121310}.
Mouse PG classificationHPG
click here to return to the previous page