| GENE NAME | CEP290 |
| CHROMOSOME | 12 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000198707 |
| UNIPROT ACCESSION NUMBER | O15078 |
| GO MOLECULAR FUNCTION | ['identical protein binding', 'protein binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-1640170; R-HSA-168249; R-HSA-168256; R-HSA-1852241; R-HSA-2565942; R-HSA-380259; R-HSA-380270; R-HSA-380284; R-HSA-380287; R-HSA-380320; R-HSA-453274; R-HSA-5617833; R-HSA-5620912; R-HSA-6798695; R-HSA-68877; R-HSA-68886; R-HSA-69275; R-HSA-69278; R-HSA-8854518 |
| 5 combinations linked to CEP290 | OLI244; OLI622; OLI324; OLI1146; OLI1452 |
| 6 variants linked to CEP290 | CEP290:c.7311_7313delGAA, p.Lys2437del; CEP290:c.3626C>G, p.Ser1209Cys; CEP290:c.829G>C, p.Glu277Gln; CEP290:c.6727G>C, p.Glu2243Gln; CEP290:c.6401T>C, p.Ile2134Thr; CEP290:c.5237G>A, p.Arg1746Gln |
| 2 diseases linked to CEP290 | Joubert syndrome; Bardet-Biedl syndrome |