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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namecentrosomal protein 290
OMIM IDMIM:610142
Ensembl IDEnsembl:ENSG00000198707
HGNC IDHGNC:HGNC:29021
PHARMGKB IDPA143485433
Map Location12q21.32

Gene Categories:

TUMOR SUPPRESSOR

GO terms in CEP290


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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
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Gene expression in normal tissue: CEP290

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

SKItissue: SKI cancer: SKIN model num: 0SKINtissue: SKIN cancer: Cutaneous Melanoma (SKCM) model num: 3

Gene-drug pathway distribution

undefined2Apoptosis regulation1

Pathways in CEP290


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD441 TW 37 1
iGMDRD188 Piperlongumine 1
iGMDRD360 SB-505124 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

1TGFR11Increases ROS levels1BCL2

Gene Structure: PDB

Models in CEP290

Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
MUT(CEP290)|MUT(MAP3K4)|MUT(PTEN)|AMP(MYC) mix GDSC SKIN Cutaneous Melanoma (SKCM) TW 37 sensitivity in vitro
MUT(CEP290)|DEL(4p15.2) mix GDSC SKIN Cutaneous Melanoma (SKCM) SB-505124 sensitivity in vitro
MUT(CEP290)|MUT(CLSPN)|PWU(TGFB) mix GDSC SKIN Cutaneous Melanoma (SKCM) piperlongumine sensitivity in vitro
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