Table 1.
Genes mutated in nephronophthisis and related ciliopathies
| Locus | Gene | Protein | Functional domains | Associated syndrome |
|---|---|---|---|---|
| NPHP1 | NPHP1 | nephrocystin 1 | CC, SH3 | NPHP, SLS |
| NPHP2 | INV | inversin | ANK, IQ | NPHP, SLS |
| NPHP3 | NPHP3 | nephrocystin 3 | CC, TPR | NPHP, SLS |
| NPHP4 | NPHP4 | nephroretinin | − | NPHP, SLS |
| NPHP5 | IQCB1 | IQ motif containing B1 | CC, IQ | SLS |
| NPHP6 | CEP290 | centrosomal protein 290 | CC | NPHP, SLS, JS, MKS |
| NPHP7 | GLIS2 | GLI-similar 2 | ZF | NPHP |
| NPHP8 | RPGRIP1L | RPGRIP1-like | CC, C2 | NPHP, SLS, JS, MKS |
| NPHP9 | NEK8 | NIMA-related kinase 8 | STK | NPHP, SLS |
| NPHP10 | SDCCAG8 | serologically defined colon cancer antigen 8 | CC | SLS, BBS-like |
| NPHP11 | TMEM67 | transmembrane protein 67 | TM | NPHP, JS, MKS, LF |
| NPHPL1 | XPNPEP3 | X-prolyl aminopeptidase 3 | peptidase | NPHP |
| JBTS1 | INPP5E | inositol polyphosphate-5-phosphatase | IPP | JS |
| JBTS2 | TMEM216 | transmembrane protein 216 | TM | JS |
| JBTS3 | AHI1 | Jouberin | CC, WD40, SH3 | JS, MKS |
| JBTS8 | ARL13B | ADP-ribosylation factor-like 13B | GTPase, CC | JS |
| JBTS9 | CC2D2A | coiled coil and C2 domain containing 2A | CC | JS, MKS |
| MKS1 | MKS1 | Meckel-Gruber syndrome type 1 | − | MKS |
CC = Coiled coil; SH3 = Src homology 3; ANK = ankyrin repeat; IQ = isoleucine glutamine motif; TPR = tetratricopeptide repeat; ZF = zinc finger; C2 = Ca2+-binding motif; STK = serine threonine kinase; TM = transmembrane; IPP = inositol polyphosphate phos-phatase; WD40 = β-transducin repeat; LF = liver fibrosis.