Table 1.
Ciliopathy genes and their subcellular functions.
| Primary phenotypes | Gene/protein | Localization | Putative subcellular functions |
|---|---|---|---|
| Kartagener’s/primary ciliary diskinesia (PCD) | |||
| Situs inversus, chronic sinusitis, bronchiectasis |
DNAH5 | Outer dynein arms | Cilia motility |
| DNAL1 | Outer dynein arms | Cilia motility | |
| DNAH11/LRD | Axonemal | Cilia motility | |
| KTU | Cytoplasm | Dynein arm preassembly, cilia motility |
|
| DNAI2 | Outer dynein arms | Cilia motility | |
| RSPH9 | Radial spokes | Central pair/motility | |
| RSPH4A | Radial spokes | Central pair/motility | |
| Bardet–Biedl syndrome (BBS) | |||
| Obesity, cystic kidneys, retinal degeneration |
BBS1 | Basal bodies | BBsome, Wnt/PCP, IFT/trafficking |
| BBS2 | Basal bodies | BBsome, IFT/trafficking | |
| BBS3; ARL6 | Basal bodies | Vesicle trafficking | |
| BBS4 | Basal body, primary cilia | BBsome, Wnt/PCP, IFT/ trafficking |
|
| BBS5 | Basal bodies | BBsome, IFT/trafficking | |
| BBS6; MKKS | Basal bodies | IFT/trafficking, Wnt/PCP, cytokinesis, chaperonin |
|
| BBS7 | Basal bodies | BBsome, IFT/trafficking | |
| BBS8; TTC8 | Basal body, primary cilia | BBsome, IFT/trafficking | |
| BBS9; PTHB1 | Basal bodies | BBsome | |
| BBS10 | Basal bodies | Ciliogenesis, Wnt, chaperonin | |
| BBS11; TRIM32 | Basal bodies | E3 ubiquitin ligase | |
| BBS12 | Basal bodies | Ciliogenesis, Wnt, chaperonin | |
| Alstrom syndrome | |||
| Obesity, retinal degeneration, hearing loss |
ALMS1 | Basal bodies | Cilia maintenance |
| Leber congenital amaurosis (LCA) | |||
| Congenital retinal blindness | TULP1 | Connecting cilia | Rhodopsin trafficking |
| LCA5 | Connecting cilia | Unknown | |
| CEP290; NPHP6 | Basal bodies | RPGR complex, trafficking | |
| RPGRIP1 | Connecting cilia | RPGR complex | |
| Retinitis pigmentosa | |||
| Retinal degeneration | RPGR | Connecting cilia | IFT/trafficking, Disc morphogenesis |
| RP1 | Connecting cilia | IFT/trafficking, Disc morphogenesis | |
| Polycystic kidney disease (PKD) | |||
| Cystic kidneys | PKD1/PC1 | Primary cilia, cell–cell junction | Mechanosensation, Wnt, cell adhesion |
| PKD2/PC2 | Primary cilia, cell–cell junction | Calcium channel | |
| PKHD1/FPC | Primary cilia | PC2 modulation | |
| Nephronophthisis | |||
| Fibrocystic kidneys | NPHP1/Nephrocystin | Basal bodies, primary cilia, cell–cell contacts |
Cilia structure |
| NPHP2; INVS | Basal bodies, primary cilia | Wnt/PCP | |
| NPHP3 | Undetermined | Wnt/PCP | |
| NPHP4/Nephroretinin | Basal bodies, primary cilia | Cilia structure, IFT | |
| NPHP5; IQCB1 | Primary cilia | RPGR/calmodulin complex | |
| NPHP6; CEP290 | Basal bodies | RPGR complex, trafficking | |
| NPHP7; GLIS2 | Nucleus | Transcription factor, Wnt | |
| NPHP8; RPGRIP1L | Basal bodies | Shh signaling | |
| NPHP9; NEK8 | Basal bodies, primary cilia | Modulation of PC1 and PC2 | |
| Meckel–Gruber syndrome (MKS) | |||
| Brain malformation, cystic kidneys, polydactyly |
MKS1 | Basal bodies | Ciliogenesis |
| MKS3; TMEM67 | Primary cilia, membrane | Ciliogenesis | |
| CEP290; NPHP6 | Basal bodies | RPGR complex, trafficking | |
| CC2D2A | Basal bodies | Unknown | |
| Joubert syndrome (JS) | |||
| Brain malformation | AHI1/Jbn | Basal bodies, primary cilia | Wnt signaling, oncogene |
| NPHP1/Nephrocystin | Basal bodies, primary cilia, cell–cell contacts |
Cilia structure | |
| CEP290; NPHP6 | Basal bodies | RPGR complex, trafficking | |
| MKS3; TMEM67 | Primary cilia, membrane | Ciliogenesis | |
| RPGRIP1L | Basal bodies | Shh signaling | |
| ARL13B | Primary cilia | Cilia structure | |
| CC2D2A | Basal bodies | Unknown | |
| INPP5E | Primary cilia | PI signaling, cilia stability | |
| Oral-facial-digital syndrome | |||
| Craniofacial abnormalities, polydactyly, cystic kidneys |
OFD1 | Basal bodies, nucleus | Ciliogenesis, Wnt/PCP |
Information available on OMIM (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM).