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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| centrosomal protein 290 | MIM:610142 | Ensembl:ENSG00000198707 | HGNC:HGNC:29021 | PA143485433 | 12q21.32 |
Gene Categories:
TUMOR SUPPRESSORGO terms in CEP290
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0000930 | gamma-tubulin complex |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005813 | centrosome |
| CC | IDA | GO:0005814 | centriole |
| CC | IDA | GO:0005829 | cytosol |
| CC | TAS | GO:0005829 | cytosol |
| CC | HDA | GO:0016020 | membrane |
| CC | ISS | GO:0032391 | photoreceptor connecting cilium |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IDA | GO:0034451 | centriolar satellite |
| CC | TAS | GO:0035580 | specific granule lumen |
| CC | IDA | GO:0035869 | ciliary transition zone |
| CC | ISS | GO:0036038 | MKS complex |
| CC | IEA | GO:0036064 | ciliary basal body |
| BP | TAS | GO:0000086 | G2/M transition of mitotic cell cycle |
| BP | TAS | GO:0010389 | regulation of G2/M transition of mitotic cell cycle |
| BP | ISS | GO:0015031 | protein transport |
| BP | ISS | GO:0030902 | hindbrain development |
| BP | ISS | GO:0030916 | otic vesicle formation |
| BP | ISS | GO:0042462 | eye photoreceptor cell development |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | ISS | GO:0048793 | pronephros development |
| BP | IDA | GO:0060271 | cilium assembly |
| BP | ISS | GO:0060271 | cilium assembly |
| BP | IMP | GO:0070201 | regulation of establishment of protein localization |
| BP | IMP | GO:0090316 | positive regulation of intracellular protein transport |
| BP | TAS | GO:0097711 | ciliary basal body-plasma membrane docking |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IDA | GO:0051011 | microtubule minus-end binding |
Gene expression in normal tissue: CEP290
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CEP290
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-1852241 | Organelle biogenesis and maintenance |
| reactome | R-HSA-2565942 | Regulation of PLK1 Activity at G2/M Transition |
| reactome | R-HSA-380259 | Loss of Nlp from mitotic centrosomes |
| reactome | R-HSA-380270 | Recruitment of mitotic centrosome proteins and complexes |
| reactome | R-HSA-380284 | Loss of proteins required for interphase microtubule organization from the centrosome |
| reactome | R-HSA-380287 | Centrosome maturation |
| reactome | R-HSA-380320 | Recruitment of NuMA to mitotic centrosomes |
| reactome | R-HSA-453274 | Mitotic G2-G2/M phases |
| reactome | R-HSA-5617833 | Cilium Assembly |
| reactome | R-HSA-5620912 | Anchoring of the basal body to the plasma membrane |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-68877 | Mitotic Prometaphase |
| reactome | R-HSA-68886 | M Phase |
| reactome | R-HSA-69275 | G2/M Transition |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-8854518 | AURKA Activation by TPX2 |
| wikipathways | WP4018 | Pathways in clear cell renal cell carcinoma |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD441 | TW 37 | 1 |
| iGMDRD188 | Piperlongumine | 1 |
| iGMDRD360 | SB-505124 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CEP290
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