| GENE NAME | NPHP4 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000131697 |
| UNIPROT ACCESSION NUMBER | O75161 |
| GO MOLECULAR FUNCTION | ['structural molecule activity', 'protein binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-162582; R-HSA-1852241; R-HSA-2028269; R-HSA-5617833; R-HSA-5620912 |
| 9 combinations linked to NPHP4 | OLI1666; OLI1658; OLI1663; OLI213; OLI359; OLI212; OLI1445; OLI1664; OLI1661 |
| 10 variants linked to NPHP4 | NPHP4:IVS16-1G>C, ; NPHP4:c.2260G>A, p.Gly754Arg; NPHP4:c.3364delACTG, p.Thr1122TrpfsTer22; NPHP4:c.7G>T, p.Asp3Tyr; NPHP4:c.2962G>A, p.Ala988Thr; NPHP4:c.3454C>T, p.Pro1152Ser; NPHP4:c.2290G>A, p.Ala764Thr; NPHP4:c.2126A>G, p.Asp709Gly; NPHP4:c.1880C>T, p.Thr627Met; NPHP4:c.2219G>A, p.Arg740His |
| 2 diseases linked to NPHP4 | Bardet-Biedl syndrome; Nephronophthisis |