Gene and protein . | Ciliary localization . | Proposed function . | Human disease . | Disease pathology or developmental defect . | |
---|---|---|---|---|---|
Intraflagellar transport | |||||
Kif3a, Kif3a | Cilia | Subunit of the anterograde IFT motor protein kinesin 2 | Unknown | Kidney cysts, retinal dystrophy, situs inversus (M) | |
Kif3b, Kif3b | Cilia | Subunit of the anterograde IFT motor protein kinesin 2 | Unknown | Situs inversus (M) | |
Dnchc2 (M)/cytoplasmic dynein | Cilia? | Heavy chain subunit of the retrograde IFT dynein motor complex | Unknown | Neural tube defects, polydactyly, situs inversus (M) | |
Tg737, Polaris/Ift88 | Cilia, basal bodies | IFT complex B protein | Unknown | Renal, hepatic and pancreatic cysts, hydrocephalus, polydactyly, situs inversus (M) | |
Wimple (M), Ift172 | Cilia | IFT complex B protein | Unknown | Neural tube defects, polydactyly, situs inversus (M) | |
Ngd (M), Ift52 | Cilia | IFT complex B protein | Unknown | Neural tube defects, polydactyly, situs inversus (M) | |
hippi (Z), Ift57 | Cilia? | IFT complex B protein | Unknown | Hydrocephalus, kidney cysts, situs inversus (Z) | |
Ciliary motility | |||||
Dnah5, axonemal dynein | Cilia | Heavy chain subunit of ciliary outer dynein arms | PCD | Sinusitus, bronchiectasis, infertility, hydrocephalus, situs inversus | |
Dnai1, axonemal dynein | Cilia | Intermediate chain subunit of ciliary outer dynein arms | PCD | Sinusitus, bronchiectasis, infertility, hydrocephalus, situs inversus | |
Dnah11 (iv/lrd)(M), left-right dynein | Cilia | Dynein motor protein subunit; required for motility in nodal cilia | PCD? | Situs inversus | |
Transcription of ciliary genes | |||||
Rfx3 (M), Rfx3 | Nucleus | X-box transcription factor; regulates ciliogenic genes | Unknown | Situs inversus (M) | |
Hfh4/Foxj1 (M), Foxj1 | Nucleus | Forkhead transcription factor; regulates ciliogenic genes | Unknown | Situs inversus (M) | |
Polycystic kidney diseases | |||||
Pkd1, polycystin 1 | Cilia, basal bodies | Mechanosensitive and G protein-coupled receptor | ADPKD | Kidney, liver and pancreatic cysts | |
Pkd2, polycystin 2 | Cilia | Mechanosensitive, nonselective cation channel permeable to Ca2+ | ADPKD | Kidney, liver and pancreatic cysts; situs inversus (M, Z) | |
Pkhd1, fibrocystin/polyductin | Cilia, basal body | Unknown; transmembrane protein | ARPKD | Kidney cysts, liver fibrosis | |
Cys1, cystin | Cilia, basal body | Unknown | Unknown | Kidney cysts, cpk mouse model of PKD | |
Nphp1, nephrocystin | Cilia, basal bodies, centrosomes | Unknown; interacts with focal adhesion signaling complex elements and nephroretinin | NPHP type I (juvenile) | Kidney cysts, liver fibrosis, retinal dysplasia | |
Nphp2, Invs (M), inversin | Cilia, basal bodies, centrosomes | Interacts with Apc2, N-cadherin calmodulin, nephrocycstin, Dvl; functions in regulation of cell cycle and Wnt pathways | NPHP type II (infantile) | Kidney cysts, situs inversus | |
Nphp3, Pcy (M), nephrocystin 3 | Cilia, basal bodies, photoreceptor connecting cilia | Unknown; interacts with nephrocystin | NPHP type III (adolescent) | Kidney cysts and fibrosis | |
Nphp4, nephroretinin | Cilia, basal bodies | Unknown; interacts with nephrocystin | NPHP type IV | Kidney cysts, retinitis pigmentosa | |
Nphp5/lqcb1i, nephrocystin 5 | Cilia, photoreceptor connecting cilium | Unknown; interacts with retinitis pigmentosa GTPase regulator and calmodulin | Senior-Loken syndrome | Kidney cysts, retinitis pigmentosa | |
Nphp6/Cep290, nephrocystin 6 | Centrosomes, photoreceptor connecting cilium | Unknown; interacts with transcription factor Atf4 | Joubert sydrome | Kidney cysts, retinitis pigmentosa, cerebellar vermis aplasia | |
Cell cycle regulation | |||||
Pdgfrα, Pdgfrα | Cilia | Platelet-derived growth factor receptor; involved in cell-cycle regulation | Malignancies | Mutations associated with gastrointestinal, lung and ovarian tumors | |
Nek1 (kat), Nek1 | Cilia, basal bodies, centrosomes | NIMA kinase family member; interacts with PKD proteins, cell cycle regulation? | Unknown | Kidney cysts, male infertility; mouse model of progressive PKD | |
Nek8, jck (M), Nek8 | Cilia | NIMA kinase family member; cell cycle, cytoskeletal regulation? | Unknown | Kidney cysts; mouse model of juvenile cystic kidney disease | |
Intercellular signaling | |||||
Smo, smoothened | Cilia, cytoplasm | Transmembrane hedgehog receptor, ciliary localization necessary for processing of Gli transcription factors | Unknown; gain of function in some basal cell carcinomas | Neural tube defects, polydactyly (M) | |
BBS and other disease syndromes | |||||
Bbs1-Bbs11, Bbs1-Bbs11 | Basal bodies, centrosome, photoreceptor connecting cilium | Involved in IFT in photoreceptor and olfactory cilia and in intracellular microtubule transport processes | Bardet-Biedl syndrome (BBS) | Kidney cysts, obesity, anosmia, retinal dystrophy, male infertility, situs inversus, diabetes | |
Alms1, Alms1 | Cilia, centrosomes | Unknown | Alstrom syndrome | Retinal degeneration, obesity, diabetes | |
Ofd1, Ofd1 | Basal bodies | Implicated in IFT and intracellular transport processes | Oral-facial-digital syndrome I | Kidney cysts, malformations of the oral cavity, face, and digits | |
Mks1 and Mks3, Mks1 and Mks3 | Cilia? | Unknown | Meckel-Gruber syndrome | Kidney and liver cysts, CNS malformations, polydactyly, hydrocephalus |
Gene and protein . | Ciliary localization . | Proposed function . | Human disease . | Disease pathology or developmental defect . | |
---|---|---|---|---|---|
Intraflagellar transport | |||||
Kif3a, Kif3a | Cilia | Subunit of the anterograde IFT motor protein kinesin 2 | Unknown | Kidney cysts, retinal dystrophy, situs inversus (M) | |
Kif3b, Kif3b | Cilia | Subunit of the anterograde IFT motor protein kinesin 2 | Unknown | Situs inversus (M) | |
Dnchc2 (M)/cytoplasmic dynein | Cilia? | Heavy chain subunit of the retrograde IFT dynein motor complex | Unknown | Neural tube defects, polydactyly, situs inversus (M) | |
Tg737, Polaris/Ift88 | Cilia, basal bodies | IFT complex B protein | Unknown | Renal, hepatic and pancreatic cysts, hydrocephalus, polydactyly, situs inversus (M) | |
Wimple (M), Ift172 | Cilia | IFT complex B protein | Unknown | Neural tube defects, polydactyly, situs inversus (M) | |
Ngd (M), Ift52 | Cilia | IFT complex B protein | Unknown | Neural tube defects, polydactyly, situs inversus (M) | |
hippi (Z), Ift57 | Cilia? | IFT complex B protein | Unknown | Hydrocephalus, kidney cysts, situs inversus (Z) | |
Ciliary motility | |||||
Dnah5, axonemal dynein | Cilia | Heavy chain subunit of ciliary outer dynein arms | PCD | Sinusitus, bronchiectasis, infertility, hydrocephalus, situs inversus | |
Dnai1, axonemal dynein | Cilia | Intermediate chain subunit of ciliary outer dynein arms | PCD | Sinusitus, bronchiectasis, infertility, hydrocephalus, situs inversus | |
Dnah11 (iv/lrd)(M), left-right dynein | Cilia | Dynein motor protein subunit; required for motility in nodal cilia | PCD? | Situs inversus | |
Transcription of ciliary genes | |||||
Rfx3 (M), Rfx3 | Nucleus | X-box transcription factor; regulates ciliogenic genes | Unknown | Situs inversus (M) | |
Hfh4/Foxj1 (M), Foxj1 | Nucleus | Forkhead transcription factor; regulates ciliogenic genes | Unknown | Situs inversus (M) | |
Polycystic kidney diseases | |||||
Pkd1, polycystin 1 | Cilia, basal bodies | Mechanosensitive and G protein-coupled receptor | ADPKD | Kidney, liver and pancreatic cysts | |
Pkd2, polycystin 2 | Cilia | Mechanosensitive, nonselective cation channel permeable to Ca2+ | ADPKD | Kidney, liver and pancreatic cysts; situs inversus (M, Z) | |
Pkhd1, fibrocystin/polyductin | Cilia, basal body | Unknown; transmembrane protein | ARPKD | Kidney cysts, liver fibrosis | |
Cys1, cystin | Cilia, basal body | Unknown | Unknown | Kidney cysts, cpk mouse model of PKD | |
Nphp1, nephrocystin | Cilia, basal bodies, centrosomes | Unknown; interacts with focal adhesion signaling complex elements and nephroretinin | NPHP type I (juvenile) | Kidney cysts, liver fibrosis, retinal dysplasia | |
Nphp2, Invs (M), inversin | Cilia, basal bodies, centrosomes | Interacts with Apc2, N-cadherin calmodulin, nephrocycstin, Dvl; functions in regulation of cell cycle and Wnt pathways | NPHP type II (infantile) | Kidney cysts, situs inversus | |
Nphp3, Pcy (M), nephrocystin 3 | Cilia, basal bodies, photoreceptor connecting cilia | Unknown; interacts with nephrocystin | NPHP type III (adolescent) | Kidney cysts and fibrosis | |
Nphp4, nephroretinin | Cilia, basal bodies | Unknown; interacts with nephrocystin | NPHP type IV | Kidney cysts, retinitis pigmentosa | |
Nphp5/lqcb1i, nephrocystin 5 | Cilia, photoreceptor connecting cilium | Unknown; interacts with retinitis pigmentosa GTPase regulator and calmodulin | Senior-Loken syndrome | Kidney cysts, retinitis pigmentosa | |
Nphp6/Cep290, nephrocystin 6 | Centrosomes, photoreceptor connecting cilium | Unknown; interacts with transcription factor Atf4 | Joubert sydrome | Kidney cysts, retinitis pigmentosa, cerebellar vermis aplasia | |
Cell cycle regulation | |||||
Pdgfrα, Pdgfrα | Cilia | Platelet-derived growth factor receptor; involved in cell-cycle regulation | Malignancies | Mutations associated with gastrointestinal, lung and ovarian tumors | |
Nek1 (kat), Nek1 | Cilia, basal bodies, centrosomes | NIMA kinase family member; interacts with PKD proteins, cell cycle regulation? | Unknown | Kidney cysts, male infertility; mouse model of progressive PKD | |
Nek8, jck (M), Nek8 | Cilia | NIMA kinase family member; cell cycle, cytoskeletal regulation? | Unknown | Kidney cysts; mouse model of juvenile cystic kidney disease | |
Intercellular signaling | |||||
Smo, smoothened | Cilia, cytoplasm | Transmembrane hedgehog receptor, ciliary localization necessary for processing of Gli transcription factors | Unknown; gain of function in some basal cell carcinomas | Neural tube defects, polydactyly (M) | |
BBS and other disease syndromes | |||||
Bbs1-Bbs11, Bbs1-Bbs11 | Basal bodies, centrosome, photoreceptor connecting cilium | Involved in IFT in photoreceptor and olfactory cilia and in intracellular microtubule transport processes | Bardet-Biedl syndrome (BBS) | Kidney cysts, obesity, anosmia, retinal dystrophy, male infertility, situs inversus, diabetes | |
Alms1, Alms1 | Cilia, centrosomes | Unknown | Alstrom syndrome | Retinal degeneration, obesity, diabetes | |
Ofd1, Ofd1 | Basal bodies | Implicated in IFT and intracellular transport processes | Oral-facial-digital syndrome I | Kidney cysts, malformations of the oral cavity, face, and digits | |
Mks1 and Mks3, Mks1 and Mks3 | Cilia? | Unknown | Meckel-Gruber syndrome | Kidney and liver cysts, CNS malformations, polydactyly, hydrocephalus |
Genes and phenotypes specific to mice (M), zebrafish (Z) are indicated.
ADPKD, autosomal polycystic kidney disease; Alms1, Alstrom syndrome 1;Cys1, cystin 1; Hfh4, hepatocyte nuclear factor/forkhead homolog 4; IFT,intraflagellar transport; Kif3, kinesin superfamily 3; Mks1, Meckel syndrome 1; Nek, NIMA-related kinase; PCD, primary cilia dyskinesia; Pdgfrα,platelet-derived growth factor α; PKD, polycystin; NPHP, nephrocystin;Ofd1, oral-facial-digital type 1 syndrome.