AutismKB 2.0

Annotation Details for CEP290


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Basic Information Top
Gene Symbol:CEP290 ( 3H11Ag,BBS14,CT87,FLJ13615,FLJ21979,JBTS5,JBTS6,KIAA0373,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16 )
Gene Full Name: centrosomal protein 290kDa
Band: 12q21.32
Quick LinksEntrez ID:80184; OMIM: 610142; Uniprot ID:CE290_HUMAN; ENSEMBL ID: ENSG00000198707; HGNC ID: 29021
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000930IDAcolocalizes_withgamma-tubulin complex16682973
GO:0005576TAS-extracellular region-
GO:0005634IDA-nucleus16682973
GO:0005737IDA-cytoplasm14654843
GO:0005813IDA-centrosome14654843
GO:0005813IDAcolocalizes_withcentrosome24648492
GO:0005814IDA-centriole27623382
GO:0005829IDA-cytosol16682973
GO:0005829TAS-cytosol-
GO:0016020IDA-membrane19946888
GO:0032391ISS-photoreceptor connecting cilium16682973
GO:0034451IDA-centriolar satellite22797915
GO:0035580TAS-specific granule lumen-
GO:0035869IDA-ciliary transition zone23943788
GO:0036038ISS-MKS complex-
GO:0036064IEA-ciliary basal body-
GO:0043234IDA-protein complex24421332
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16682973
GO:0042802IPI-identical protein binding18723859
GO:0051011IDANOTmicrotubule minus-end binding16682973
GO ID Evidence Qualifier GO_term References
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0015031ISS-protein transport-
GO:0030902ISS-hindbrain development16682973
GO:0030916ISS-otic vesicle formation16682973
GO:0042462ISS-eye photoreceptor cell development16682973
GO:0043312TAS-neutrophil degranulation-
GO:0045893IDA-positive regulation of transcription, DNA-templated16682973
GO:0048793ISS-pronephros development16682973
GO:0060271IDA-cilium assembly26386044
GO:0060271ISS-cilium assembly-
GO:0070201IMP-regulation of establishment of protein localization24421332
GO:0090316IMP-positive regulation of intracellular protein transport22797915
GO:0097711TAS-ciliary basal body docking-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CEP290MAPK1012316320936779 Two-hybrid
CEP290MAPK1011158820936779 Two-hybrid
Gene Symbol Interactant Interaction ID References Description
CEP290DISC125963414623284 An unspecified isoform of DISC1 interacts with KIAA0373.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-041111-243'