CEP290


Summary: This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
centrosomal protein 290MIM:610142Ensembl:ENSG00000198707HGNC:HGNC:29021PA14348543312q21.32

Gene Categories:

TUMOR SUPPRESSOR

GO terms in CEP290


Term TypeEvidence TypeGO Term IDGO Des.
CCIDAGO:0000930gamma-tubulin complex
CCTASGO:0005576extracellular region
CCIDAGO:0005634nucleus
CCIDAGO:0005737cytoplasm
CCIDAGO:0005813centrosome
CCIDAGO:0005813centrosome
CCIDAGO:0005814centriole
CCIDAGO:0005829cytosol
CCTASGO:0005829cytosol
CCHDAGO:0016020membrane
CCISSGO:0032391photoreceptor connecting cilium
CCIDAGO:0032991protein-containing complex
CCIDAGO:0034451centriolar satellite
CCTASGO:0035580specific granule lumen
CCIDAGO:0035869ciliary transition zone
CCISSGO:0036038MKS complex
CCIEAGO:0036064ciliary basal body
BPTASGO:0000086G2/M transition of mitotic cell cycle
BPTASGO:0010389regulation of G2/M transition of mitotic cell cycle
BPISSGO:0015031protein transport
BPISSGO:0030902hindbrain development
BPISSGO:0030916otic vesicle formation
BPISSGO:0042462eye photoreceptor cell development
BPTASGO:0043312neutrophil degranulation
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPISSGO:0048793pronephros development
BPIDAGO:0060271cilium assembly
BPISSGO:0060271cilium assembly
BPIMPGO:0070201regulation of establishment of protein localization
BPIMPGO:0090316positive regulation of intracellular protein transport
BPTASGO:0097711ciliary basal body-plasma membrane docking
MFIPIGO:0005515protein binding
MFIPIGO:0042802identical protein binding
MFIDAGO:0051011microtubule minus-end binding

Gene expression in normal tissue: CEP290

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CEP290


DatabasePathway IDPathway Des.
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-1852241Organelle biogenesis and maintenance
reactomeR-HSA-2565942Regulation of PLK1 Activity at G2/M Transition
reactomeR-HSA-380259Loss of Nlp from mitotic centrosomes
reactomeR-HSA-380270Recruitment of mitotic centrosome proteins and complexes
reactomeR-HSA-380284Loss of proteins required for interphase microtubule organization from the centrosome
reactomeR-HSA-380287Centrosome maturation
reactomeR-HSA-380320Recruitment of NuMA to mitotic centrosomes
reactomeR-HSA-453274Mitotic G2-G2/M phases
reactomeR-HSA-5617833Cilium Assembly
reactomeR-HSA-5620912Anchoring of the basal body to the plasma membrane
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-68877Mitotic Prometaphase
reactomeR-HSA-68886M Phase
reactomeR-HSA-69275G2/M Transition
reactomeR-HSA-69278Cell Cycle, Mitotic
reactomeR-HSA-8854518AURKA Activation by TPX2
wikipathwaysWP4018Pathways in clear cell renal cell carcinoma

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD441TW 371
iGMDRD188Piperlongumine1
iGMDRD360SB-5051241

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CEP290

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