full name
centrosomal protein 290

synonyms
3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, rd16, SLSN6, CEP290, ENSG00000198707

HGNC
HGNC:29021

Entrez Gene
Gene:80184

ENSEMBL
ENSG00000198707

location
chr: 12
start: 88442790
stop: 88535993
strand: -

OMIM
OMIM:610142: CEP290
OMIM:615991: ?Bardet-Biedl syndrome 14
OMIM:610188: Joubert syndrome 5
OMIM:611755: Leber congenital amaurosis 10
OMIM:611134: Meckel syndrome 4
OMIM:610189: Senior-Loken syndrome 6

transcripts
ENST00000552810.1

pathways
AURKA Activation by TPX2 [NCBI:1383018] [REACTOME:R-HSA-8854518] [PUBMED:14580337] [PUBMED:21147853] [PUBMED:22094468] [PUBMED:21347367]
Anchoring of the basal body to the plasma membrane [NCBI:1268847] [REACTOME:R-HSA-5620912] [PUBMED:21816947] [PUBMED:23747070] [PUBMED:19575670] [PUBMED:13978319] [PUBMED:23348840] [PUBMED:25047614] [PUBMED:20819941] [PUBMED:5661997] [PUBMED:21422230] [PUBMED:24469809] [PUBMED:23530209] [PUBMED:21725307] [PUBMED:21680046] [PUBMED:23351793] [PUBMED:21427764] [PUBMED:11676918] [PUBMED:22653444]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle, Mitotic [NCBI:1269763] [REACTOME:R-HSA-69278]
Centrosome maturation [NCBI:1269805] [REACTOME:R-HSA-380287] [PUBMED:17178454] [PUBMED:18437411]
Cilium Assembly [NCBI:1268846] [REACTOME:R-HSA-5617833] [PUBMED:21427764] [PUBMED:23351793] [PUBMED:25040720] [PUBMED:17955020] [PUBMED:22118932] [PUBMED:22653444] [PUBMED:22389062] [PUBMED:20399632] [PUBMED:25047619] [PUBMED:20395968] [PUBMED:23945166] [PUBMED:19575670] [PUBMED:24296415] [PUBMED:20145001] [PUBMED:19602418]
G2/M Transition [NCBI:1269799] [REACTOME:R-HSA-69275]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Loss of Nlp from mitotic centrosomes [NCBI:1269809] [REACTOME:R-HSA-380259] [PUBMED:12852856]
Loss of proteins required for interphase microtubule organization from the centrosome [NCBI:1269808] [REACTOME:R-HSA-380284] [PUBMED:12140259] [PUBMED:12852856]
Mitotic G2-G2/M phases [NCBI:1269797] [REACTOME:R-HSA-453274]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Organelle biogenesis and maintenance [NCBI:1268838] [REACTOME:R-HSA-1852241] [PUBMED:8608592] [PUBMED:16103713]
Recruitment of mitotic centrosome proteins and complexes [NCBI:1269806] [REACTOME:R-HSA-380270] [PUBMED:18437411] [PUBMED:17178454]
Regulation of PLK1 Activity at G2/M Transition [NCBI:1269803] [REACTOME:R-HSA-2565942] [PUBMED:12207013] [PUBMED:18615013] [PUBMED:13678582] [PUBMED:18378770] [PUBMED:18566290] [PUBMED:18477460] [PUBMED:22365832]