Gene: CEP290

80184
3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16
centrosomal protein 290
protein-coding
12q21.32
Ensembl:ENSG00000198707 MIM:610142 Vega:OTTHUMG00000169871 UniprotKB:O15078
NG_008417.1
SNP Mapped
1   ANCO-SNPs
AD
0   
NA (AD)  NA (ND)   (Frontal_Cortex)
8.848e-1 (AD)  7.590e-1 (ND)

ANCO-SNPs

SNP ID Position Alleles Trait Variation Type
rs2471503chr12:88069674 (GRCh38.p7)T>Calcohol dependenceSNV(Single Nucleotide Variation)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
MON20.872
ZNF6380.87
DMTF10.868
FAR10.868
FAM208A0.865
UBA60.859
MAP3K70.858
U2SURP0.853
SRSF110.853
PNISR0.852

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.494
OR4F29-0.471
MTRNR2L10-0.314
KLRB1-0.299
TTLL10-0.29
PLA2G5-0.29
C8orf74-0.28
RSPO1-0.275
MTRNR2L9-0.273
MTRNR2L6-0.272

Drugs/Compounds

    There is no DrugBank record for this gene !

ID Drug Name Action PubMed
C0495842-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine"2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine results in increased expression of CEP290 mRNA"20816883
C0275764-hydroxy-2-nonenal4-hydroxy-2-nonenal results in increased expression of CEP290 mRNA19191707
D016604Aflatoxin B1Aflatoxin B1 affects the expression of CEP290 protein20106945
C543008bis(4-hydroxyphenyl)sulfone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of CEP290 mRNA28628672
C006780bisphenol A[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of CEP290 mRNA28628672
C006780bisphenol Abisphenol A affects the expression of CEP290 mRNA25181051
D000069286BortezomibBortezomib results in increased expression of CEP290 mRNA20977926
D003010ClorgylineClorgyline results in increased expression of CEP290 mRNA19691856
D016572CyclosporineCyclosporine results in increased expression of CEP290 mRNA20106945|2798913
D003907DexamethasoneDexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of CEP290 mRNA]27941970
D003907Dexamethasone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of CEP290 mRNA28628672
D003907Dexamethasone[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of CEP290 mRNA28628672
D002945CisplatinCisplatin results in decreased expression of CEP290 mRNA27392435
C000944dicrotophosdicrotophos results in decreased expression of CEP290 mRNA28302478
C045651epigallocatechin gallate[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CEP290 mRNA22079256
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in increased expression of CEP290 mRNA23649840
D007213Indomethacin[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of CEP290 mRNA28628672
D007213Indomethacin[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of CEP290 mRNA28628672
D015759Ionomycin[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of CEP290 mRNA25613284
C051890irinotecanirinotecan analog results in decreased expression of CEP290 mRNA18927307
D0150561-Methyl-3-isobutylxanthine[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of CEP290 mRNA28628672
D0150561-Methyl-3-isobutylxanthine[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of CEP290 mRNA28628672
C544151jinfukangjinfukang results in decreased expression of CEP290 mRNA27392435
D008344Maneb[Paraquat co-treated with Maneb] affects the expression of CEP290 mRNA22563483
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in increased expression of CEP290 mRNA23649840
D008770MethylnitrosoureaMethylnitrosourea results in decreased expression of CEP290 mRNA17412507
C517284monomethyl phthalatemonomethyl phthalate affects the expression of CEP290 mRNA26924002
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in decreased expression of CEP290 mRNA"25554681
D037742Nanotubes, Carbon"Nanotubes, Carbon results in decreased expression of CEP290 mRNA"25554681
D010269Paraquat[Paraquat co-treated with Maneb] affects the expression of CEP290 mRNA22563483
D010269ParaquatParaquat results in increased expression of CEP290 mRNA22563483
C076994perfluorooctane sulfonic acidperfluorooctane sulfonic acid results in decreased expression of CEP290 mRNA27153767
C049032pinosylvinpinosylvin results in increased expression of CEP290 mRNA23333577
D010936Plant ExtractsPlant Extracts results in increased expression of CEP290 mRNA23557933
C027373potassium chromate(VI)[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CEP290 mRNA22079256
C027373potassium chromate(VI)potassium chromate(VI) results in decreased expression of CEP290 mRNA22079256
D011192Potassium DichromatePotassium Dichromate results in decreased expression of CEP290 mRNA23608068
D011374ProgesteroneProgesterone results in increased expression of CEP290 mRNA19690047
C428725pyridabenpyridaben results in increased expression of CEP290 mRNA22563483
D012643SeleniumSelenium results in decreased expression of CEP290 mRNA19244175
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin results in increased expression of CEP290 mRNA19465110
D013755Tetradecanoylphorbol Acetate[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of CEP290 mRNA25613284
D019284ThapsigarginThapsigargin results in increased expression of CEP290 protein24648495
D013806TheophyllineTheophylline results in decreased expression of CEP290 mRNA18951874
D013853ThioacetamideThioacetamide results in increased expression of CEP290 mRNA22659510
D014635Valproic AcidValproic Acid results in decreased expression of CEP290 mRNA23179753|2718838
D014635Valproic AcidValproic Acid results in decreased methylation of CEP290 gene29154799
D014635Valproic AcidValproic Acid results in increased expression of CEP290 mRNA29154799
D001335Vehicle EmissionsVehicle Emissions affects the methylation of CEP290 gene25560391
D014810Vitamin EVitamin E results in decreased expression of CEP290 mRNA19244175

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI16682973  18694559  18723859  18772192  21565611  21620453  
22441691  22446187  22797915  22863007  23446637  23644468  
23943788  24550735  24816561  25552655  26638075  28235840  
GO:0042802identical protein binding-IPI18723859  
GO:0051011microtubule minus-end bindingNOTIDA16682973  
GO ID GO Term Qualifier Evidence PubMed
GO:0000086G2/M transition of mitotic cell cycle-TAS-  
GO:0010389regulation of G2/M transition of mitotic cell cycle-TAS-  
GO:0015031protein transport-ISS-  
GO:0030902hindbrain development-ISS16682973  
GO:0030916otic vesicle formation-ISS16682973  
GO:0042462eye photoreceptor cell development-ISS16682973  
GO:0043312neutrophil degranulation-TAS-  
GO:0045893positive regulation of transcription, DNA-templated-IDA16682973  
GO:0048793pronephros development-ISS16682973  
GO:0060271cilium assembly-IDA26386044  
GO:0060271cilium assembly-ISS-  
GO:0070201regulation of establishment of protein localization-IMP24421332  
GO:0090316positive regulation of intracellular protein transport-IMP22797915  
GO:0097711ciliary basal body-plasma membrane docking-TAS-  
GO ID GO Term Qualifier Evidence PubMed
GO:0000930gamma-tubulin complexcolocalizes_withIDA16682973  
GO:0005576extracellular region-TAS-  
GO:0005634nucleus-IDA16682973  
GO:0005737cytoplasm-IDA14654843  
GO:0005813centrosome-IDA14654843  16682973  21399614  24550735  
GO:0005813centrosomecolocalizes_withIDA24648492  
GO:0005814centriole-IDA27623382  
GO:0005829cytosol-IDA16682973  
GO:0005829cytosol-TAS-  
GO:0016020membrane-HDA19946888  
GO:0032391photoreceptor connecting cilium-ISS16682973  
GO:0032991protein-containing complex-IDA24421332  
GO:0034451centriolar satellite-IDA22797915  23943788  
GO:0035580specific granule lumen-TAS-  
GO:0035869ciliary transition zone-IDA23943788  
GO:0036038MKS complex-ISS-  
GO:0036064ciliary basal body-IEA-  
KEGG ID KEGG Term
Reactome ID Reactome Term Evidence
R-HSA-1640170Cell CycleTAS
R-HSA-168249Innate Immune SystemTAS
R-HSA-168256Immune SystemTAS
R-HSA-1852241Organelle biogenesis and maintenanceTAS
R-HSA-2565942Regulation of PLK1 Activity at G2/M TransitionTAS
R-HSA-380259Loss of Nlp from mitotic centrosomesTAS
R-HSA-380270Recruitment of mitotic centrosome proteins and complexesTAS
R-HSA-380284Loss of proteins required for interphase microtubule organization from the centrosomeTAS
R-HSA-380287Centrosome maturationTAS
R-HSA-380320Recruitment of NuMA to mitotic centrosomesTAS
R-HSA-453274Mitotic G2-G2/M phasesTAS
R-HSA-5617833Cilium AssemblyTAS
R-HSA-5620912Anchoring of the basal body to the plasma membraneTAS
R-HSA-6798695Neutrophil degranulationTAS
R-HSA-68877Mitotic PrometaphaseTAS
R-HSA-68886M PhaseTAS
R-HSA-69275G2/M TransitionTAS
R-HSA-69278Cell Cycle, MitoticTAS
R-HSA-8854518AURKA Activation by TPX2TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal