Table 1.
| Gene symbol | Protein | Function | Associated disease(s) in humans or mice |
|---|---|---|---|
| Centriole and pericentriolar material (PCM) | |||
| PCM1 | Pericentriolar material 1 | Centriolar satellite component, anchors microtubules to the centrosome | Papillary thyroid carcinoma in humans; reduced brain size in haploinsufficient mice |
| PCNT | Pericentrin | Pericentriolar material component, important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression | Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism-2 in humans |
| Daughter centriole | |||
| CEP120 | Centrosomal protein 120 | Microtubule-dependent coupling of the nucleus and the centrosome | JS-31 and Short-rib thoracic dysplasia-13 in humans |
| CNTROB | Centrobin | Centriole duplication and cytokinesis | Defects in reproduction |
| Mother centriole | |||
| OFD1 | OFD1 Centriole and centriolar satellite protein | Centriole and centriolar satellite protein | OFD-1, Simpson-Golabi-Behmel syndrome-2 JS-10, and RP-23 in humans |
| C2CD3 | C2 domain-containing protein 3 | Centriolar distal appendage assembly;Recruitment of other ciliary proteins, including intraflagellar transport proteins | OFD-14 in humans |
| Distal appendage | |||
| CEP83 | Centrosomal protein 83 | Primary cilium assembly | NPHP-18 in humans |
| SCLT1 | Sodium channel and clathrin linker 1 | Cilium assembly | PKD |
| CEP164 | Centrosomal protein 164 | Microtubule organization, DNA damage response, chromosome segregation and assembly of primary cilia | NPHP-15 in humans |
| Subdistal appendage | |||
| TUBG1 | Tubulin gamma 1 | Structural component of centrioles, binding to microtubules through interaction with γ-tubulin ring complex of PCM | Complex cortical dysplasia with other brain malformations-4 |
| CP110 | Centriolar coiled-coil protein 110 | Regulator of cell cycle; Inhibitor of ciliogenesis | Defects in multi-organ development |
| CC2D2A | Coiled-coil and C2 domain containing 2A | Cilium formation | MKS and Visceral heterotaxy in mice; MKS-6, JS-9 and COACH syndrome in humans |
| ODF2 | Outer dense fiber of sperm tails 2 | Major outer dense fiber protein | Infertility |
| NIN | Ninein | Positioning and anchoring the microtubules minus-ends | Seckel syndrome-7 in humans |
| Motor protein | |||
|
KIF3A
KIF3B |
Kinesin family member 3A Kinesin family member 3B |
Component of heterotrimeric kinesin-2 motor complex | PKD-1; dysostosis Mice with null mutation die during the midgestational period |
| KIFAP3 | Kinesin associated protein 3 | 70% homozygous knock-out die from heart failure shortly after birth | |
| KIF17 | Kinesin family member 17 | Component of homodimeric kinesin-2 motor complex | Impaired neural functioning |
| DYNC2H1 | Dynein cytoplasmic 2 heavy chain 1 | Component of cytoplasmic dynein 2 | Asphyxiating thoracic dystrophy 3 in both humans and miceVACTERL association in mice |
| WDR34 | WD repeat domain 34 | Short-rib thoracic dysplasia-11 with or without polydactyly | |
| DYNLL1 | Dynein light chain LC8-type 1 | Preweaning lethality in mice | |
| DYNC2LI1 | Dynein cytoplasmic 2 light intermediate chain 1 | Retrograde transport of cargo in primary cilia via the intraflagellar transport system | Short-rib thoracic dysplasia-15 with polydactyly |
| Transition zone (TZ) | |||
| TCTN1 | Tectonic family member 1 | Component of the MKS complex | JS-3 in humans |
| TCTN2 | Tectonic family member 2 | MKS-8 and JS-24 in humans | |
| TCTN3 | Tectonic family member 3 | OFD-5 and JS-18 in humans | |
| MKS1 | MKS transition zone complex subunit 1 | MKS-1, JS-28 and BBS-13 in humans; MKS, atrioventricular septal defect and tetralogy of Fallot in mice | |
| B9D1 | B9 domain containing 1 | JS-27 in humans; MKS in mice | |
| B9D2 | B9 domain containing 2 | Ciliogenesis defects in humans; preweaning lethality in mice | |
| CC2D2A | Coiled-coil and C2 domain containing 2A | MKS-6, JS-9 and COACH syndrome in humans; MKS and Visceral heterotaxy in mice | |
| TMEM67 | Transmembrane protein 67 | NPHP-11, MKS-3, COACH syndrome, and BBS-4 in humans; MKS, cystic kidney disease, and visceral heterotaxy in mice; JS-6 in both humans and mice | |
| TMEM216 | Transmembrane protein 216 | JS-2 and MKS-2 in humans | |
| TMEM231 | Transmembrane protein 231 | JS-20 in humans | |
| TMEM107 | Transmembrane protein 107 | MKS-13 and OFD-15 in humans | |
| CEP290 | Centrosomal protein 290 | Protein hub of the MKS and NPHP complexes | BBS-14, MKS-4, and SLS in humans; Cystic kidney disease and |
| NPHP1 | Nephrocystin 1 | Component of the NPHP complex | SLS, NPHP-1, and JS-4 in humans |
| NPHP3 | Nephrocystin 3 | Renal-hepatic-pancreatic dysplasia and MKS-7 in humans; PKD in mice; NPHP-3 in both humans and mice | |
| NPHP4 | Nephrocystin 4 | SLS and NPHP-4 in humans; NPHP in mice | |
| IQCB1(also called NPHP5) | IQ motif containing B1 | SLS and LCA in humans | |
| NEK8 | NIMA related kinase 8 | NPHP-9 and renal-hepatic-pancreatic dysplasia in humans; PKD in mice | |
| ANKS6 | Ankyrin repeat and sterile alpha motif domain containing 6 | NPHP-16 in humans; visceral heterotaxy in mice | |
| INVS | Inversin | Component of the NPHP complex, protein hub of the MKS and NPHP complexes | NPHP-2 in both humans and mice; Tetralogy of Fallot in mice |
| INPP5E | Inositol polyphosphate-5phosphatase E | Regulate Golgi-vesicular and cilia-vesicular trafficking | JS-1 in humans |
| RPGR | Retinitis pigmentosa GTPase regulator | Guanine nucleotide exchange factors interacts with RPGRIP1 | RP-3 and X-linked cone-rod dystrophy-1 in both humans and mice |
| RPGRIP1 | RPGR interacting protein 1 | Interacts RPGR to facilitate ciliogenesis | LCA-6 in both humans and mice; Cone-rod dystrophy-13 in humans |
| RPGRIP1L | RPGRIP1 like | Interacts with interact with NPHP4 | MKS-5 and COACH syndrome in humans; MKS in mice; JS-7 in both humans and mice |
| Intraflagellar transport (IFT) | |||
| IFT20, 46, 52, 57 | Intraflagellar transport 20, 46, 52, 57 | Component of IFT complex B | Homozygous null mutation embryonically lethal in mice |
| HSPB11 | heat shock protein family B (small) member 11 | Homozygous null mutation neonatally lethal in mice | |
| IFT27 | Intraflagellar transport 27 | Homozygous null mutation neonatally lethal in mice | |
| TRAF3IP1 | TRAF3 interacting protein 1 | SLS-9 in humans; Homozygous null mutation embryonically lethal in mice | |
| IFT74 | Intraflagellar transport 74 | Visceral heterotaxy in mice | |
| IFT80 | Intraflagellar transport 80 | Asphyxiating thoracic dystrophy-2 in humans and mice; Asphyxiating thoracic dystrophy-3 in mice | |
| IFT81 | Intraflagellar transport 81 | Short-rib thoracic dysplasia 19 with or without polydactyly in humans | |
| IFT88 | Intraflagellar transport 88 | PKD in mice | |
| IFT172 | Intraflagellar transport 172 | RP-71 and short-rib thoracic dysplasia-10 with or without polydactyly in humans; Retinal degeneration and atrioventricular septal defect in mice | |
| IFT43 | Intraflagellar transport 43 | Component of IFT complex A | Cranioectodermal dysplasia-3 in humans |
| WDR35 | WD repeat domain 35 | Sensenbrenner syndrome in humans; Short-rib thoracic dysplasia 7 with or without polydactyly in both humans and mice | |
| TTC21B | Tetratricopeptide repeat domain 21B | NPHP-12 and asphyxiating thoracic dystrophy-4 in humans; Cystic kidney disease in mice | |
| IFT140 | Intraflagellar transport 140 | Short-rib thoracic dysplasia 9 with or without polydactyly in both humans and mice; Asphyxiating thoracic dystrophy-1 in mice | |
| WDR19 | WD repeat domain 19 | NPHP-3, craniometaphyseal dysplasia, and asphyxiating thoracic dystrophy 5 in humans; ciliopathy in mice | |
| TULP3 | TUB like protein 3 | Cargo adaptor for IFT complex A | PKD in mice |
| CLUAP1 | Clusterin associated protein | Cargo adaptor for IFT complex B | Homozygous mutant mid-gestationally lethal in mice |
| TTC26 | Tetratricopeptide repeat domain 26 | Homozygous for a spontaneous nonsense partially prenatally lethal in mice | |
| BBS1, 4 | BBS1, 4 | Component of the BBSome | BBS in both humans and mice; Obesity in mice |
| BBS2 | BBS2 | BBS-2 in both humans and mice; RP-74 in humans | |
| BBS5, 7, 9 | BBS5, 7 | BBS humans | |
| TTC8 | Tetratricopeptide repeat domain 8 | BBS-8 in both humans and mice; RP-51 in humans | |
| BBS10 | BBS10 | Interacts with the BBSome; A molecular chaperone that may affect the stability and folding of other ciliary proteins | BBS-10 in humans |
|
UNC119
PDE6D |
Unc-119 lipid binding chaperone Phosphodiesterase 6D |
Lipid-binding transporter proteins to facilitate the transport of ciliary periphery membranes across the TZ | Retinal degeneration in homozygous null mice JS-22 in humans |
| Photoreceptor-specific outer segments (modified primary cilium) | |||
| PRPH2 | Peripherin 2 | Structural outer segment proteins | RP-7 in both humans and mice; fundus albipunctatus, partial central choroid dystrophy, patterned macular dystrophy 1, and vitelliform macular dystrophy in humans |
| ROM1 | Retinal outer segment membrane protein 1 | RP-7 in humans | |
| TULP1 | TUB like protein 1 | RP-14 in both humans and mice; LCA-15 in humans | |
| CDHR1 | Cadherin related family member 1 | CRD-15 in humans | |
| EYS | Eyes shut homolog | RP in humans | |
| FSCN2 | Fascin actin-bundling protein 2, retinal | RP-30 in both humans and mice; auditory system disease and retinal degeneration in mice | |
| PROM1 | Prominin 1 | RP-41 in both humans and mice; CRD and Stargardt disease in humans | |
| RHO | Rhodopsin | Photoreceptor sensory function proteins | RP-4 and congenital stationary night blindness autosomal dominant 1 in both humans and mice; fundus albipunctatus in humans |
| ABCA4 | ATP binding cassette subfamily A member 4 | CRD-3, RP-19 and Stargardt disease in both humans and mice; AMD-2 in humans | |
| CNGA1 | Cyclic nucleotide gated channel subunit alpha 1 | RP-49 in humans | |
| CNGA3 | Cyclic nucleotide gated channel subunit alpha 3 | Achromatopsia 2 in humans | |
| CNGB1 | Cyclic nucleotide gated channel subunit beta 1 | RP-45 in both humans and mice | |
| CNGB3 | Cyclic nucleotide gated channel subunit beta 3 | Achromatopsia 2 in both humans and mice; Stargardt disease in humans | |
| GNAT1 | G protein subunit alpha transducin 1 | Congenital stationary night blindness in humans | |
| GNAT2 | G protein subunit alpha transducin 2 | Achromatopsia 4 in both humans and mice | |
| GUCA1A | Guanylate cyclase activator 1A | CRD-14 | |
| GUCA1B | Guanylate cyclase activator 1B | RP-48 in humans | |
| OPN1LW | Opsin 1, long wave sensitive | Partial, protanopic colorblindness in humans | |
| OPN1MW | Opsin 1, medium wave sensitive | Blue cone monochromacy in both humans and mice; Red color blindness in humans | |
| OPN1SW | Opsin 1, short wave sensitive | Blue color blindness in humans | |
| PDE6A | Phosphodiesterase 6A | RP-43 in both humans and mice | |
| PDE6B | Phosphodiesterase 6B | RP-40 and congenital stationary night blindness autosomal dominant 2 in both humans and mice | |
| PDE6C | Phosphodiesterase 6C | Cone dystrophy in humans; Achromatopsia in mice | |
| PDE6G | Phosphodiesterase 6G | RP-57 in both humans and mice | |
| RDH12 | Retinol dehydrogenase 12 | LCA-13 in humans | |
| RGS9 and RGS9BP | Regulator of G protein signaling 9 and binding protein | Bradyopsia in humans | |
| SAG | S-antigen visual arrestin | RP-47 and Oguchi disease-1 in humans | |
|
ARL6 (BBS3)
CLRN1 |
ADP-ribosylation factor-like 6 Clarin 1 |
Connecting cilium and axoneme-associated proteins |
BBS-3 and RP-55 in humans Usher syndrome type 3A in both humans and mice; RP-61 in humans |
| FAM161A | FAM161 centrosomal protein A | RP-28 in both humans and mice | |
| KIZ | Kizuna centrosomal protein | RP-69 in both humans | |
| MAK | Male germ cell associated kinase | RP-62 in both humans | |
| RAB28 | RAB28, member RAS oncogene family | CRD-18 in both humans and mice | |
| RP1 | RP1 axonemal microtubule associated | RP-1 in both humans and mice | |
| RP1L1 | RP1 like 1 | Occult macular dystrophy in humans | |
| RP2 | RP2 activator of ARL3 GTPase | RP-2 in both humans and mice | |
| SPATA7 | Spermatogenesis associated 7 | LCA-3 in both humans and mice | |
| TOPORS | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | RP-31 in humans | |
| USH2A | Usherin | Usher syndrome type 2A in both humans and mice; RP-39 in humans | |
JS, Joubert syndrome; RP, Retinitis pigmentosa; OFD, Orofaciodigital syndrome; NPHP, Nephronophthisis; MKS, Meckel syndrome; PKD, Polycystic kidney disease; BBS, Bardet–Biedl syndrome; SLS, Senior-Løken syndrome; CRD, cone-rod dystrophy; AMD; age-related macular degeneration.