CEP290 (centrosomal protein 290)

2014-11-01  

Identity

HGNC
LOCATION
12q21.32
LOCUSID
ALIAS
3H11Ag,BBS14,CT87,JBTS5,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16
FUSION GENES

Other Information

Locus ID:

NCBI: 80184
MIM: 610142
HGNC: 29021
Ensembl: ENSG00000198707

Variants:

dbSNP: 80184
ClinVar: 80184
TCGA: ENSG00000198707
COSMIC: CEP290

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198707ENST00000309041J3KNF5
ENSG00000198707ENST00000397838A0A0A0MS86
ENSG00000198707ENST00000547691O15078
ENSG00000198707ENST00000547926F8VS29
ENSG00000198707ENST00000550962F8W097
ENSG00000198707ENST00000552770F8W0V9
ENSG00000198707ENST00000552810O15078
ENSG00000198707ENST00000604024S4R322

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169093942006Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.245
166829732006The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.244
166324842006In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.191
183272552008Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.183
187721922008CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.144
175649742007Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.121
186945592008CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.119
189507402008CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.102
206901152010CEP290, a gene with many faces: mutation overview and presentation of CEP290base.99
173456042007Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.78

Citation

Dessen P

CEP290 (centrosomal protein 290)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61722/cep290