Gene Information
Gene NameBBS14
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 NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBO15078
Gene CardCEP290
Uniprot IDO15078
PfamPF16574
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
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 classificationNA
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