The SysCilia Gold Standard (SCGS) Version 1
The SCGS is part of SysCilia's effort to create tools which will increase the quality of its experimental and bioinformatic analyses. We provide the SCGS as a resource to the scientific community working on cilia and flagellar biology. For details on the SCGS please see the article. For questions you can email John van Dam at teunis.j.p.vandam at gmail.
Please be aware that the SCGS is focused on the human genome. Ciliary genes, which do not have human orthologs, can not be included! We aim to regularly update the SCGS (i.e. once every six months) using all corrections and submission received.
Please cite the following article if you use the SCGS in your research:
Teunis J. P. van Dam, Gabrielle Wheway, Gisela G. Slaats, The SysCilia Consortium, Martijn Huynen, Rachel H. Giles. The SYSCILIA Gold Standard (SCGSv.1), a gold standard of known ciliary components and its applications within a systems biology consortium. Cilia 2, 7 (2013).
Help us improve the SCGS! Send us corrections or new ciliary genes.
| SCGS v1 | .XLSX | .TSV* |
* This is a Tab delimited text file using the Unix new line separator. This file may appear as having one long line of text on MS Windows PC's.
Disclaimer: The SCGS is provided to you, as is, without warranty. Be aware that this list is not and will likely never be 'complete' and that errors may be present. You can help improve the SCGS, by submitting corrections or novel ciliary genes! Use the 'Send Corrections' button behind each entry, or use the form below!
| EnsEMBL ID | Gene Symbol | Curator's notes | Evidence | Localization | |
|---|---|---|---|---|---|
| ENSG00000138031 | ADCY3 | Localized to the plasma membrane of neuronal cilia PMID: 17924533, PMID: 23392690 | PMID:17924533, PMID:23392690 | Ciliary Membrane | |
| ENSG00000135541 | AHI1 | Mutated in Joubert syndrome (type 3) OMIM 608894, PMID:16453322. At mother centriole/basal body. Interacts with B9 complex of transition zone proteins including B9D1, B9D2, MKS1, TCTN1, TCTN2 PMID:22179047. Role in RAB8-dependent ciliary membrane targeting PMID:19625297. | PMID:16453322 PMID:22179047 PMID:19625297 | Basal Body | |
| ENSG00000140057 | AK7 | Ultrastructural defects in 9+2 cilia, leading to PCD phenotype in mutant mice PMID:18776131. Role in ATP production to power ciliary beating. Reduced expression levels in PCD patients PMID:20537283. 1 single possibly pathogenic variant found in AK7 in 1 PCD patient PMID: 22801010 | PMID:18776131 PMID:20537283 PMID:22801010 | No data | |
| ENSG00000165695 | AK8 | Hydrocephalus due to dysfunctional motile cilia in KO mouse PMID: 21746835 | PMID:21746835 | ||
| ENSG00000116127 | ALMS1 | Mutated in Alstrom syndrome (type 1) OMIM 606844, PMID: 11941369, PMID: 11941370. Also mutated in 1 LCA family PMID:21901789. siRNA knockdown leads to shortened cilia and inability of cilia to respond to mechanical stimuli PMID:17206865. | PMID: 11941369, PMID: 11941370, PMID:15855349, PMID:21901789, PMID:17206865 | Basal Body, Cilium | |
| ENSG00000168374 | ARF4 | Involved in ciliary targeting of rhodopsin and other proteins with VxPx motif. PMID:19153612. Targets proteins to cilia in association with ASAP1, RAB11 and RAB8 PMID:22983554. | PMID:19153612, PMID:22983554 | Trans-Golgi Network | |
| ENSG00000169379 | ARL13B | Mutated in Joubert Syndrome (type 8) OMIM 608922, PMID: 18674751. In proximal ciliary membrane PMID:20231383. Role in IFT and therefore ciliogenesis PMID:20530210. Necessary for normal Shh PMID:21976698 and INPP5E signalling PMID:23150559 and normal expression of Nodal and Cerl2 PMID:22554696. | PMID:18674751, PMID:20231383, PMID:20530210, PMID:21976698, PMID: 23150559, PMID:22554696 | Basal Body, Cytosol | |
| ENSG00000138175 | ARL3 | interactor of RP2 PMID: 12417528 and PDEdelta PMID:10518933. Involved in trafficking of vesicles from the Golgi to the cilium PMID:20106869, especially; farnesylated cargo PMID:22002721 in association with PDEdelta and RPGR PMID:23559067; and myristoylated cargo in association with UNC119 and RP2 PMID:22085962 | PMID:12417528, PMID:10518933, PMID:20106869, PMID:22002721, PMID:23559067, PMID:22085962 | Cytosol | |
| ENSG00000113966 | ARL6 | Mutated in Bardet-Biedl syndrome (type 3) and retinitis pigmentosa (type 55) OMIM 608845, PMID:19956407, PMID:15314642. At the ciliary gate, regulates Wnt signalling PMID:20207729. Functions with BBSome to coat proteins for trafficking to the cilium PMID:20603001 | PMID:19956407, PMID:15314642, PMID:20207729, PMID:20603001 | Basal Body, Cilium, Cytosol, Transition Zone | |
| ENSG00000153317 | ASAP1 | Targets proteins, such as rhodopsin and polycystin-1, to cilia in association with ARF4, RAB11 and RAB8 PMID:19153612, PMID:21775626. Provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary cargo trafficking PMID:22983554 | PMID: 19153612, PMID:21775626, PMID:22983554 | Trans-Golgi Network | |
| ENSG00000130638 | ATXN10 | Mutated in 1 NPHP family (splice-site mutation). Forms complex with NPHP5 and 6 at the basal body PMID: 21565611 | PMID:21565611 | No data | |
| ENSG00000141577 | AZI1 | CEP131 Drosophila homologue required for ciliogenesis | PMID:21750193 | Basal Body, Centrosome | |
| ENSG00000108641 | B9D1 | Mutated in Meckel-Gruber syndrome (type 9) OMIM 614144 although mutations only found in 1 family PMID:21493627. Interacts with B9D2 and MKS1 at the transition zone PMID:22179047 | PMID:21493627, PMID:21763481, PMID:22179047 | Transition Zone | |
| ENSG00000123810 | B9D2 | Mutated in Meckel-Gruber syndrome (type10) OMIM 611951 although mutations only found in 1 family PMID:21763481. Interacts with B9D2 and MKS1 at the transition zone PMID:22179047 | PMID:21493627, PMID:21763481, PMID:22179047 | Transition Zone | |
| ENSG00000174483 | BBS1 | Mutated in Bardet-Biedl syndrome (type 1) OMIM 209901 PMID: 12118255. Forms part of BBSome, mediates interaction with RABIN8 (RAB3IP), important for RAB8-mediated membrane protein trafficking PMID: 20603001, PMID:17574030, PMID:22072986 | PMID:12118255, PMID: 20603001, PMID:17574030, PMID:22072986 | Basal Body, Cilium | |
| ENSG00000179941 | BBS10 | Mutated in Bardet-Biedl syndrome (type 10) OMIM 610148 PMID:16582908. Chaperonin-like protein. Forms complex with other chaperonin-like BBS proteins to facilitate BBSome assembly PMID:20080638. At basal body of differentiating preadipocytes. Role in targeting of Wnt and Hh receptors to this cilium PMID:19190184 | PMID:16582908, PMID:20080638 | Basal body | |
| ENSG00000181004 | BBS12 | Mutated in Bardet-Biedl syndrome (type 12) OMIM 610683 PMID:17160889 Forms complex with other chaperonin-like BBS proteins to facilitate BBSome assembly PMID:20080638. At basal body of differentiating preadipocytes. Role in targeting of Wnt and Hh receptors to this cilium PMID:19190184. | PMID:17160889, PMID:20080638, PMID:19190184. | Basal body | |
| ENSG00000125124 | BBS2 | Mutated in Bardet-Biedl syndrome (type 2) OMIM 606151 PMID:11285252. Forms part of BBSome, important for RAB8-mediated membrane protein trafficking PMID: 20603001, PMID:17574030, PMID:22072986 | PMID:11285252, PMID: 20603001, PMID:17574030, PMID:22072986 | Basal Body, Cilium | |
| ENSG00000140463 | BBS4 | Mutated in Bardet-Biedl syndrome (type 4) OMIM 600374 PMID:11381270. Forms part of BBSome, important for RAB8-mediated membrane protein trafficking PMID: 20603001, PMID:17574030, PMID:22072986 | PMID:11381270, PMID: 20603001, PMID:17574030, PMID:22072986 | Basal Body, Cilium | |
| ENSG00000163093 | BBS5 | Mutated in Bardet-Biedl syndrome (type 5) OMIM 603650 PMID:15137946. Forms part of BBSome, mediates binding to phospholipids, predominantly phosphatidylinositol 3-phosphate PMID: 20603001, PMID:17574030, PMID:22072986 | PMID:15137946, PMID: 20603001, PMID:17574030, PMID:22072986 | Basal Body | |
| ENSG00000138686 | BBS7 | Mutated in Bardet-Biedl syndrome (type 7) OMIM 607590 PMID:12567324. Forms part of BBSome important for RAB8-mediated membrane protein trafficking PMID: 20603001, PMID:17574030, PMID:22072986 | PMID:12567324, PMID: 20603001, PMID:17574030, PMID:22072986 | Basal Body, Cilium | |
| ENSG00000122507 | BBS9 | Mutated in Bardet-Biedl syndrome (type 7) OMIM 607968 PMID:16380913. Forms part of BBSome, important for RAB8-mediated membrane protein trafficking. Complex-organizing subunit of BBSome. PMID: 20603001, PMID:17574030, PMID:22072986 | PMID:16380913, PMID: 20603001, PMID:17574030, PMID:22072986 | Cilium | |
| ENSG00000160226 | C21orf2 | Structural cilia defects after knockdown PMID:21289087 | PMID:21289087 | ||
| ENSG00000168014 | C2CD3 | Required for cilia formation and Hh signalling PMID:19004860 | PMID:19004860 | Basal body | |
| ENSG00000179270 | C2orf71 | Mutated in retinitis pigmentosa (type 54) OMIM 613425 PMID:20398886, PMID:20398884, specifically expressed in the eye. | PMID:20398884, PMID:20398886 | Basal body | |
| ENSG00000156172 | C8orf37 | Mutated in cone-rod dystrophy (type 16) and retinitis pigmentosa (type 64) OMIM 614477 PMID:22177090. Localizes to Basal body in cultured RPE cells and Basal body and ciliary rootlet in mouse photoreceptors | PMID:22177090 | Basal Body, Ciliary Root | |
| ENSG00000100211 | CBY1 | Interacts with ODF1 (cenexin) at mother centriole. Functions in primary cilia formation PMID:22911743 | PMID:22911743 | Centriole | |
| ENSG00000048342 | CC2D2A | Mutated in Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxi, ocular Coloboma and Hepatic fibrosis (COACH) syndrome, Joubert syndrome (type 9) and Meckel-Gruber syndrome (type 6) OMIM 612013 PMID:19574260, PMID:18387594/PMID:19068953, PMID:18513680. At transition zone PMID:21422230. Interacts with CEP290 at basal body PMID:18950740. Interacts with B9 domain proteins in an 'MKS module' at transition zone PMID:21422230 | PMID:18950740, PMID:18513680, PMID:19574260 | Transition Zone | |
| ENSG00000167131 | CCDC103 | Mutated in primary ciliary dyskinesia (type 17) OMIM 614667 PMID:22581229 Functions in binding of dynein arms to cilia microtubules. | PMID:22581229 | Axoneme, Cytoplasm | |
| ENSG00000105479 | CCDC114 | Mutated in primary ciliary dyskinesia (type 20) OMIM 615038 PMID:23261302, PMID: 23261303 Axonemal outer dynein arm docking complex gene. Required for microtubular attachment of outer dynein arms in the ciliary axoneme | PMID:23261302, PMID: 23261303 | Cilium | |
| ENSG00000157856 | CCDC164 | DRC1. Mutated in primary ciliary dyskinesia. Nexin-dynein regulatory complex subunit. Essential for motile cilia function PMID:23354437 | PMID:23354437 | Axoneme | |
| ENSG00000160050 | CCDC28B | BBS modifier. Required for ciliogenesis PMID: 23015189 | PMID:23015189 | ||
| ENSG00000163885 | CCDC37 | Structural cilia defects after knockdown PMID:21289087 | PMID:21289087 | ||
| ENSG00000145075 | CCDC39 | Mutated in primary ciliary dyskinesia (type 14) OMIM 613798 PMID:21131972 Essential for assembly of inner dynein arms and the dynein regulatory complex | PMID:21131972 | Axoneme | |
| ENSG00000141519 | CCDC40 | Mutated in primary ciliary dyskinesia (type 15) OMIM 613799 PMID:21131974 Essential for assembly of inner dynein arms and the dynein regulatory complex | PMID:21131974 | Axoneme | |
| ENSG00000173588 | CCDC41 | CEP83. Distal appendage of centrioles, essential for ciliogenesis PMID:23348840. Required for ciliary vesicle docking to the mother centriole PMID:23530209 | PMID:23348840, PMID:23530209 | Centriole | |
| ENSG00000107736 | CDH23 | Mutated in autosomal recessive deafness (type 12) and Usher syndrome (type 1D) OMIM 605516 PMID:11090341, PMID:11138009. Required for stereocilia organisation PMID:11138008, especially tip links PMID:15057246 | PMID:11090341, PMID:11138009, PMID:11138008, PMID:15057246 | Connecting Cilium, Stereocilium | |
| ENSG00000151849 | CENPJ | Required for cilia formation in neuronal cells. PMID: 23213448 | PMID:23213448 | Centrosome | |
| ENSG00000116198 | CEP104 | Microtubule plus-end tracking protein (+TIP). Interacts with CP110 and CEP97 at the centriole and is required for ciliogenesis PMID:22885064 | PMID:22885064 | Centriole | |
| ENSG00000174799 | CEP135 | Mutated in primary microcephaly (type 8) OMIM 611423 PMID:22521416 although this is not currently considered a ciliopathy. Required for centriole formation PMID:17681131. Can bind and stabilize MTs, is required for the early steps of central MT pair formation in flagella PMID:22898782. Stabilises basal bodies PMID:23115304 | PMID:22521416, PMID:17681131, PMID:22898782, PMID:23115304 | Centrosome, Centriole, Basal Body, Central Pair | |
| ENSG00000110274 | CEP164 | Mutated in nephronophthisis (type 15) OMIM:614848 PMID:22863007. Centriole appendage required for ciliogenesis PMID:17954613. Involved in ciliary INPP5E signalling PMID:23150559. Mediates vesicular docking in early ciliogenesis PMID:23253480. Role in DNA damage signalling PMID:18283122, PMID:19197159 | PMID:22863007, PMID:17954613, PMID:23150559. PMID:23253480, PMID:18283122, PMID:19197159 | Centriole | |
| ENSG00000126001 | CEP250 | C-NAP1. Required for ciliogenesis and restraint of DNA damage-induced centriole splitting, in association with rootletin PMID:23070519. | PMID:23070519 | Basal Body, Centriole | |
| ENSG00000198707 | CEP290 | Mutated in Bardet-Biedl syndrome (type 14), Joubert syndrome (type 5), Leber congenital amaurosis (type 10), Meckel-Gruber syndrome (type 4), nephronophthisis (type 6) and Senior Loken syndrome (type 6) OMIM 610142 PMID:16632484, PMID:16682970, PMID:16909394, PMID:17564974, PMID:17617513. Interacts with centriolar satellite component PCM-1, required for Rab8 localization to the primary cilium PMID:18772192. Interacts with RPGR, required for normal axonemal transport in retinal photoreceptors PMID: 16632484 | PMID:16632484, PMID:16682970, PMID:16909394, PMID:17564974, PMID:17617513, PMID:18772192 | Basal Body, Centrosome | |
| ENSG00000106477 | CEP41 | Mutated in Joubert syndrome (type 15) OMIM 610523 PMID:22246503. Role in tubulin glutamylation | PMID:22246503 | Basal Body, Centriole, Cilia | |
| ENSG00000112877 | CEP72 | Interacts with CEP290 and PCM1. Required for recuitment of BBS proteins to cilium. PMID: 22767577 | PMID:22767577 | Centriolar Satellite | |
| ENSG00000121289 | CEP89 | CCDC123. Distal appendage of centrioles, essential for ciliogenesis PMID:23348840. | PMID:23348840. | Centriole | |
| ENSG00000182504 | CEP97 | Negative regulator of ciliogenesis. Knockdown promotes primary cilia formation in growing cells PMID: 7719545. Regulates cilium length PMID:19481458 | PMID: 7719545, PMID:19481458 | Centrosome | |
| ENSG00000165376 | CLDN2 | PMID: 22143774 | PMID:22143774 | Basal Body, Cilium | |
| ENSG00000103351 | CLUAP1 | IFT complex B component PMID:23351563 | PMID:23351563 | Centriole, Cilium | |
| ENSG00000183862 | CNGA2 | Subunit of cyclic nucleotide-gated channel in olfactor sensory neuron cilia PMID: 3027574 | PMID:3027574 | Cilium | |
| ENSG00000132259 | CNGA4 | Subunit of cyclic nucleotide-gated channel in olfactor sensory neuron cilia PMID: 3027574 | PMID:3027574 | Cilium | |
| ENSG00000070729 | CNGB1 | Subunit of cyclic nucleotide-gated channel in olfactor sensory neuron cilia PMID: 3027574 | PMID:3027574 | Cilium | |
| ENSG00000103540 | CP110 | Negative regulator of ciliogenesis. Knockdown promotes primary cilia formation in growing cells PMID:17719545. Regulates cilium length. PMID:19481458 Recruited to cilium by KIF24 PMID:21620453 | PMID:17719545, PMID:19481458, PMID:21620453 | Centriole | |
| ENSG00000130545 | CRB3 | Localises to cilia, required for ciliogenesis PMID:15324661, possibly via an interaction with importin beta. Specific cilia isoform CRB3-CLPI PMID:17646395 | PMID:15324661, PMID:17646395 | Ciliary Membrane | |
| ENSG00000058453 | CROCC | Rootletin. Structural component of ciliary rootlet PMID:12427867. Forms centriole-associated filaments and functions in centrosome cohesion PMID:16203858. Ffunctions as a physical linker between the pair of centrioles/basal bodies in cells, in association with C-NAP1 (CEP250), PMID:16339073 and beta-catenin PMID:18086858 and CEP68 PMID:18042621. Required for ciliogenesis and restraint of DNA damage-induced centriole splitting PMID:23070519. | PMID:12427867, PMID:16203858, PMID:16339073 PMID:18086858, PMID:18042621, PMID:23070519. | Ciliary Root | |
| ENSG00000168036 | CTNNB1 | Involved in regulation of PKD1 and PKD2 expression. PMID:12048202. Nek2 substrate involved in centrosome separation, along with rootletin (CROCC) PMID: 18086858. Facilitator of canonical Wnt signalling pathway. Many links between cilia and Wnt signalling eg PMID:15852005, PMID:17906624 | PMID:18086858, PMID:12048202, PMID:15852005, PMID:17906624 | Centrosome, Cytosol | |
| ENSG00000146038 | DCDC2 | Affects signaling and length of primary cilia. Overexpression increases cilium length PMID 21698230 | PMID:21698230 | Cilium, Cytosol | |
| ENSG00000146038 | DCDC2 | PMID: 21698230 | PMID:21698230 | Ciliary Membrane | |
| ENSG00000095397 | DFNB31 | Whirlin. Mutated in autosomal recessive deafness (type 31) and Usher syndrome (type 2D) OMIM 607928 PMID:12833159 PMID:17171570. In the connecting cilium and basal body of photoreceptor cells. At tips of stereocilia at specific time points in development | PMID:12833159 | Basal Body, Cytosol, Connecting Cilium, Ciliary Tip, Stereocilium | |
| ENSG00000162946 | DISC1 | Localized to the plasma membrane of neuronal cilia and NIH3T3 cells PMID: 20531939 | PMID:20531939 | Centrosome | |
| ENSG00000154099 | DNAAF1 | LRRC50. Mutated in primary ciliary dyskinesia (type 13) OMIM 613190 PMID:19944400, PMID:19944405. Assembles dynein arms in cilia thereby stabilizing ciliary architecture. Mutation in zebrafish causes polycystic kidney phenotype PMID:18385425 | PMID:18385425, PMID:19944400, PMID:19944405 | Axoneme | |
| ENSG00000165506 | DNAAF2 | Mutated in primary ciliary dyskinesia (type 10) OMIM 612517 Required for cytoplasmic pre-assembly of axonemal dyneins PMID:19052621. | PMID:19052621 | Cytosol | |
| ENSG00000167646 | DNAAF3 | Mutated in primary ciliary dyskinesia (type 2) OMIM 614566 Essential for the preassembly of dyneins into complexes before their transport into cilia PMID:22387996. | PMID:22387996 | Cytosol | |
| ENSG00000114841 | DNAH1 | Component of axonemal dynein. Knockout causes sperm immobility and reduced tracheal ciliary beating in mice PMID:11371505 | PMID:11371505 | Axoneme | |
| ENSG00000197653 | DNAH10 | Axonemal dynein heavy chain PMID:11175280. Predicted component of outer dynein arm PMID:15937072 | PMID:11175280, PMID:15937072 | Axoneme | |
| ENSG00000105877 | DNAH11 | Mutated in primary ciliary dyskinesia (type 7) with or without situs inversus OMIM 603339 PMID:12142464, PMID:18022865. Mutated in mouse models of situs inversus PMID:9353118. Component of outer dynein arms, mutants have normal axonemel ultrastructure, but lack dynein arms. | PMID:12142464, PMID:18022865 | Axoneme | |
| ENSG00000183914 | DNAH2 | Component of axonemal inner arm dynein PMID:9256245 | PMID:9256245 | Axoneme | |
| ENSG00000039139 | DNAH5 | Mutated in primary ciliary dyskinesia (type 3) with or without situs inversus OMIM 603335 PMID:11788826. Component of outer dynein arms mutants have normal axonemel ultrastructure, but lack dynein arms PMID:11062149 | PMID:11788826, PMID:11062149 | Axoneme | |
| ENSG00000115423 | DNAH6 | Component of axonemal dynein PMID:8812413 | PMID:8812413 | Axoneme | |
| ENSG00000122735 | DNAI1 | Mutated in primary ciliary dyskinesia (type 1), with or without situs inversus OMIM 604366 PMID:10577904, PMID:11231901. Component of outer dynein arms. | PMID:11231901, PMID:10577904 | Axoneme | |
| ENSG00000171595 | DNAI2 | Mutated in primary ciliary dyskinesia (type 9), with or without situs inversus OMIM 605483 PMID:18950741. Component of outer dynein arms. | PMID:18950741 | Axoneme | |
| ENSG00000119661 | DNAL1 | Mutated in primary ciliary dyskinesia (type 16) OMIM 610062 PMID:15845866, PMID:21496787. Component of outer dynein arms. | PMID:15845866, PMID:21496787 | Axoneme | |
| ENSG00000163879 | DNALI1 | Component of axonemal dynein PMID:9284741, PMID:16496424 | PMID:9284741, PMID:16496424 | Cilium | |
| ENSG00000166171 | DPCD | Deleted in a mouse model of primary ciliary dyskinesia PMID: 20080492 PMID: 21746835 | PMID:20080492, PMID:21746835 | ||
| ENSG00000092964 | DPYSL2 | CRMP-2. Promotes axon formation, neurite outgrowth and elongation in neuronal cells. Targeted to cilium by GSK3 PMID:23185275 | PMID:23185275 | Cilium | |
| ENSG00000184845 | DRD1 | Localized to the plasma membrane of neuronal cilia and NIH3T3 cells PMID: 20531939 | PMID:20531939 | Ciliary Membrane | |
| ENSG00000149295 | DRD2 | Localized to the plasma membrane of neuronal cilia and NIH3T3 cells PMID: 20531939 | PMID:20531939 | Ciliary Membrane | |
| ENSG00000169676 | DRD5 | Localized to the plasma membrane of neuronal cilia and NIH3T3 cells PMID: 20531939 | PMID:20531939 | Ciliary Membrane | |
| ENSG00000107404 | DVL1 | Required for apical docking of basal bodies PMID:18552847 and planar cell polarity via inversin PMID:15852005 | PMID:18552847, PMID:15852005 | Basal Body | |
| ENSG00000187240 | DYNC2H1 | DHC1b. Mutated in Jeune asphyxiating thoracic dystrophy (type 3), short rib polydactyly syndromes (type 2 and 3) OMIM 603297 PMID:19442771. PMID:19361615. Required for ciliogenesis in chondrocytes. Localises to Golgi PMID:8666668.Involved in Smo trafficking along the cilium PMID:18488998. Required for cilia assemby PMID:9971742 | PMID:19442771, PMID:19361615, PMID:8666668, PMID:18488998, PMID:9971742 | Golgi, Axoneme | |
| ENSG00000146425 | DYNLT1 | TCTEX1. Role at transition zone in cilia resorption at the start of S phase PMID: 21394082. Regulates cilia length PMID: 21700358. | PMID:21700358, PMID:21394082 | Axoneme, Transition Zone | |
| ENSG00000256061 | DYX1C1 | Upregulated during ciliogenesis and localize to centrosome and (in some cells) primary cilia PMID:23300604 | PMID:23300604 | Centrosome, Cilium | |
| ENSG00000096093 | EFHC1 | EF-hand domain (C-terminal) containing 1. Mutated in Juvenile myoclonic epilepsy. Axonemal protein PMID:15670853. Binds tektin PMID:16831421. Transcription regulated by FOXJ1a PMID:20937855. Regulates beat frequency? PMID:23213475 | PMID:15670853, PMID:16831421, PMID:20937855, PMID:23213475 | Axoneme | |
| ENSG00000072840 | EVC | Mutated in Ellis-van Creveld syndrome and Weyers acrodental dysostosis OMIM 604831, PMID:10700184. At base of cilia PMID:17660199. Diminished Hh response in EVC patients PMID:19876929. Transduces Hh signal at cilium with Smo PMID:22986504. | PMID:10700184, PMID:17660199, PMID:19876929, PMID:22986504. | Transition Zone | |
| ENSG00000173040 | EVC2 | Mutated in Ellis-van Creveld syndrome OMIM 607261 PMID:607261. Transduces Hh signal at cilium with Smo PMID:22981989. Positive modulator of Hh signalling PMID:21356043 | PMID:607261, PMID:22981989, PMID:21356043 | Cilia membrane, Nucleus | |
| ENSG00000180104 | EXOC3 | SEC6. Required for deciliation. RNAi-mediated reduction of Exocyst subunit Sec6 inhibits ciliary shedding and specifically blocks deciliation-associated down-regulation of claudin-2 and gp135. PMID:19005211 | PMID:19005211 | ||
| ENSG00000131558 | EXOC4 | SEC8. Required for apical docking of basal bodies with DVL1 PMID:18552847 | PMID:18552847 | Basal body | |
| ENSG00000070367 | EXOC5 | SEC10. Necessary for primary ciliogenesis and cystogenesis in vitro PMID:19297529 | PMID:19297529 | Cytosol, Plasma Membrane, Cilium | |
| ENSG00000138190 | EXOC6 | Sec15 paralogue. Binds Rabin8 PMID: 23435566 | PMID:23435566 | ||
| ENSG00000144036 | EXOC6B | Sec15 paralogue. Binds Rabin8 PMID: 23435566 | PMID:23435566 | ||
| ENSG00000170264 | FAM161A | Mutated in retinitis pigmentosa (type 28) OMIM 613596 PMID:20705278, PMID:20705279. Role in microtubule acetylation and stabilizationPMID: 22791751. Interacts with lebercilin, CEP290, OFD1 and SDCCAG8. Knockdown reduces cilia number PMID:22940612. Localizes In retinal photoreceptors: connecting cilium, the basal body region and the adjacent centriole. In cultured cells: at centrosome base of primary cilia | PMID:20705278, PMID:20705279, PMID: 22791751, PMID:22940612. | Connecting Cilium, Basal Body, Centrosome | |
| ENSG00000188878 | FBF1 | Distal appendage of centrioles, essential for ciliogenesis PMID:23348840. | PMID:23348840. | Centriole | |
| ENSG00000196924 | FLNA | Interacts with meckelin (TMEM67) and MKS1. At base of cilium. Knockdown leads to reduced numbers of cilia. PMID:22121117 | PMID:22121117 | Basal body | |
| ENSG00000133393 | FOPNL | FOR20. Pericentriolar satellite protein. Involved in regulating the interaction of PCM1 satellites with microtubules and motors PMID:20551181 | PMID:20551181 | Centriolar Satellite | |
| ENSG00000129654 | FOXJ1 | PMID:19011630 transcription factor regulating expression of cilia genes | PMID:19011630 | Nucleus | |
| ENSG00000010361 | FUZ | PMID:16493421 governs apical actin assembly and thus controls the orientation, but not assembly, of ciliary microtubules. Regulates IFT PMID:22778277 | PMID:16493421, PMID:22778277 | Cytosol | |
| ENSG00000141013 | GAS8 | Required for sperm motility PMID:11751847 and Smo translocation into cilium PMID:21659505. microtubule associated subunit of the Dynein Regulatory Complex (DRC) | PMID:11751847, PMID:21659505 | Axoneme | |
| ENSG00000111087 | GLI1 | Effectors of Hh signaling, localizes to tip of cilium. PMID:21209912 | PMID:21209912 | Ciliary Tip | |
| ENSG00000074047 | GLI2 | Localizes together with other Hh proteins to tip of cilium | PMID:16254602 | Ciliary Tip | |
| ENSG00000106571 | GLI3 | Localizes together with other Hh proteins to tip of cilium | PMID:16254602 | Ciliary Tip | |
| ENSG00000126603 | GLIS2 | NPHP7 OMIM 608539. Mutation causes NPHP. | PMID:17618285 | ||
| ENSG00000143147 | GPR161 | Localizes to primary cilia in a Tulp3/IFT-A-dependent manner. Negatively regulates Shh signalling PMID:23332756 | PMID:23332756 | Cilium | |
| ENSG00000164199 | GPR98 | USH2C OMIM 602851. Mutation causes Usher syndrome type IIC | PMID:15671307 | Connecting Cilium, Stereocilium | |
| ENSG00000082701 | GSK3B | Combined deactivation with VHL causes loss of cilia | PMID:17450132, PMID:23185275 | ||
| ENSG00000173805 | HAP1 | Retrograde trafficking of PCM1 regulated by HTT and HAP1 to control ciliogenesis PMID:21985783 | PMID:21985783 | Centrosome, Basal Body | |
| ENSG00000164818 | HEATR2 | Mutation causes PCD, presumably involved in dynein arm transport or assembly | PMID:23040496 | Cytosol | |
| ENSG00000108753 | HNF1B | Mutation causes renal cyst and diabetes syndrome (OMIM #137920). Deficiency causes ciliary defects in human cholangiocytes PMID:22706971 | PMID:22706971 | ||
| ENSG00000109971 | HSPA8 | Chaperone of the IFT together with DnajB6 | PMID:19302411 | ||
| ENSG00000081870 | HSPB11 | IFT25, part of IFT-B complex. Forms a complex with IFT27. External submission. | PMID:19253336; PMID:19382199; PMID:21505417; PMID:22595669 | Cilium, IFT | |
| ENSG00000158748 | HTR6 | Localises to the plasma membrane of neuronal cilia in the rat brain. PMID:10924708 | PMID:10924708 | Ciliary Membrane | |
| ENSG00000197386 | HTT | Retrograde trafficking of PCM1 regulated by HTT and HAP1 to control ciliogenesis PMID:21985783 | PMID:21985783 | Centrosome, Basal Body | |
| ENSG00000157423 | HYDIN | axonemal central pair apparatus protein PMID:17296796 mutated in PCD PMID: 23022101 | PMID:17296796, PMID:23022101 | Central Pair | |
| ENSG00000198331 | HYLS1 | Hydrolethalus syndrome OMIM 610693. Mutation impares ciliogenesis. Required for apical anchoring of basal body/centriole | PMID:19656802 | Basal Body | |
| ENSG00000163913 | IFT122 | component of IFT complex A | PMID:20493458 | Basal Body, Cilium, IFT | |
| ENSG00000187535 | IFT140 | component of IFT complex A, mutated in skeletal ciliopathies with kidney disease PMID: 23418020 | PMID:23418020 | Basal Body, Cilium, IFT | |
| ENSG00000138002 | IFT172 | component of IFT complex B | PMID:18930042 | Basal Body, Cilium, IFT | |
| ENSG00000109083 | IFT20 | component of IFT complex B | PMID:12821668, PMID:16775004 | Basal Body, Cilium, Golgi, IFT | |
| ENSG00000100360 | IFT27 | component of IFT complex B. Rab-like small G protein | PMID:22076686 | Basal Body, Cilium, IFT | |
| ENSG00000119650 | IFT43 | component of IFT complex A | PMID:21378380 | Basal Body, Cilium, IFT | |
| ENSG00000118096 | IFT46 | component of IFT complex B, confirmed in PMID:21289087 | PMID:21289087 | Basal Body, Cilium, IFT | |
| ENSG00000101052 | IFT52 | component of IFT complex B | PMID:11676918 | Basal Body, Cilium, IFT | |
| ENSG00000114446 | IFT57 | component of IFT complex B | PMID:18492793 | Basal Body, Cilium, IFT | |
| ENSG00000096872 | IFT74 | component of IFT complex B | PMID:15955805 | Basal Body, Cilium, IFT | |
| ENSG00000068885 | IFT80 | component of IFT complex B, ATD2 OMIM 611177 | PMID:17468754 | Basal Body, Cilium, IFT | |
| ENSG00000122970 | IFT81 | component of IFT complex B | PMID:15955805 | Basal Body, Cilium, IFT | |
| ENSG00000032742 | IFT88 | component of IFT complex B | PMID:11062270 | Basal Body, Cilium, IFT | |
| ENSG00000148384 | INPP5E | JBTS1 OMIM 613037. cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse | PMID:19668215 | Axoneme | |
| ENSG00000164066 | INTU | PMID:16493421 governs apical actin assembly and thus controls the orientation, but not assembly, of ciliary microtubules | PMID:16493421 | Plasma Membrane | |
| ENSG00000119509 | INVS | Known ciliopathy gene NPHP2 OMIM 243305 | PMID:12872123 | Cilium, Basal Body, Centrosome | |
| ENSG00000173226 | IQCB1 | Known ciliopathy gene NPHP5, SLS5 OMIM 609237 | PMID:15723066, PMID:20881296 | Basal Body, Centrosome | |
| ENSG00000117245 | KIF17 | Kinesin 2 motor, active in antergrade IFT PMID: 18304522, PMID: 16782012 | PMID:18304522, PMID:16782012 | Ciliary Tip | |
| ENSG00000196169 | KIF19 | Microtubule-depolymerizing kinesin for ciliary length control PMID: 23168168 | PMID:23168168 | Ciliary Tip | |
| ENSG00000186638 | KIF24 | Recruites CP110 to centrosome to regulate ciliogenesis PMID:21620453 | PMID:21620453 | Centriole | |
| ENSG00000165115 | KIF27 | Hydrocephalus due to dysfunctional motile cilia in KO mouse PMID: 21746835 | PMID:21746835 | ||
| ENSG00000131437 | KIF3A | Mouse mutants suffer Situs inversus and embryonic ciliary morphogenensis defects PMID:10220415 | PMID:10220415 | Cilium | |
| ENSG00000101350 | KIF3B | Kinesin linked to IFT complex PMID: 12821668. KIF3B mutation in mouse cause randomization of left-right symetry PMID:9865700 | PMID:9865700, PMID:12821668 | Cilium | |
| ENSG00000084731 | KIF3C | KIF3C dimerizes with KIF3A, redundant with KIF3B | PMID:23123805 | Cilium | |
| ENSG00000166813 | KIF7 | JBTS12, mutation causes defect in cilia formation. Function in Hh-signaling | PMID:21633164, PMID:19592253 | Ciliary Tip | |
| ENSG00000135338 | LCA5 | Causes LCA OMIM 611408 | PMID:17546029 | Basal Body, Cilium | |
| ENSG00000129295 | LRRC6 | Essential for proper axonemal assembly of inner and outer dynein arms, causes PCD. PMID:23122589 | PMID:23122589 | Cilium | |
| ENSG00000163818 | LZTFL1 | BBS. BBSome and smoothened trafficking regulator PMID: 22510444 | PMID:22510444 | Basal Body, Cilium | |
| ENSG00000111837 | MAK | Mutation causes RP. RP62 OMIM 154235 | PMID:22110072 | Cilium | |
| ENSG00000172005 | MAL | Absent/abnormal cilia when overexpressed PMID: 22895261. Punctate distribution in some cilia | PMID:22895261 | Cilium | |
| ENSG00000101367 | MAPRE1 | Also called EB1. MT plus-end-tracking protein. promotes ciliogenesis. PMID: 21768326 | PMID:21768326 | Centrosome, Cytosol, Golgi | |
| ENSG00000128285 | MCHR1 | Localizes to primary cilia PMID: 18256283 | PMID:18256283 | Ciliary Membrane | |
| ENSG00000111554 | MDM1 | Upregulated during ciliogenesis and localize to centrosomes and primary cilia PMID: 23300604. Nonsense mutation in Mdm1 in the arrd2 mouse model for age-related retinal degeneration PMID: 18805803 | PMID:23300604, PMID:18805803 | Centrosome, Cilium | |
| ENSG00000125863 | MKKS | MKKS, BBS6 OMIM 604896 Forms complex with other chaperonin-like BBS proteins to facilitate BBSome assembly PMID:20080638. At basal body of differentiating preadipocytes. Role in targeting of Wnt and Hh receptors to this cilium PMID:19190184. | PMID:10973251, PMID:15731008 | Basal Body, Cytosol | |
| ENSG00000011143 | MKS1 | MKS1, BBS13 OMIM 609883 | PMID:16415886 | Basal Body | |
| ENSG00000178053 | MLF1 | Upregulated during ciliogenesis and localize to primary cilia and motile cilia PMID:23300604 | PMID:23300604 | Cilium | |
| ENSG00000138587 | MNS1 | Mns1-/- mice have short, immotile sperm flagella, situs defects and hydrocephalus. Protein localised along flagellum. PMID:22396656. Knockdown in IMCD3 and 3T3 cells causes Hh signalling defects PMID:21289087 | PMID:22396656, PMID:21289087 | Axoneme | |
| ENSG00000091536 | MYO15A | DFNB3 OMIM 600316. Localizes to tip of stereocilia, essential for staircase formation. | PMID:14610277 | Ciliary Tip, Stereocilium | |
| ENSG00000137474 | MYO7A | Known ciliopathy gene DFNA11, DFNB2, USH1B OMIM 276903 | PMID:7870171 | Ciliary Tip, Stereocilium | |
| ENSG00000137601 | NEK1 | SRPS2. Promotes VHL degradation and ciliary destabilization | PMID:23255108 | Basal Body, Pericentriolar Matrix | |
| ENSG00000117650 | NEK2 | required for cilium disassembly at G2/M | PMID:22613497 | Basal Body, Centriole | |
| ENSG00000114904 | NEK4 | Interacts with RPGRIP1 and RPGRIP1L. Regulates cilium integrity. PMID:21685204 | PMID:21685204 | Basal Body, Ciliary Rootlet | |
| ENSG00000160602 | NEK8 | Known ciliopathy gene NPHP9 OMIM 609799 | PMID:22106379, PMID:18199800 | Transition Zone | |
| ENSG00000064300 | NGFR | Localized to the plasma membrane of neuronal cilia PMID: 20875398 | PMID:20875398 | Ciliary Membrane | |
| ENSG00000100503 | NIN | PMID: 21725307 PMID: 15784680 | PMID:21725307, PMID:15784680 | Centriole | |
| ENSG00000101004 | NINL | Interacts with lebercilin, USH2A (isoform B) PMID:18826961 | PMID:18826961 | Basal Body, Centrosome | |
| ENSG00000112981 | NME5 | Hydrocephalus and infertility due to dysfunctional motile cilia in KO mouse PMID: 21746835 | PMID:21746835 | ||
| ENSG00000143156 | NME7 | PMID:21289087 IFT transport and signalling defects after knockdown | PMID:21289087 | ||
| ENSG00000086288 | NME8 | The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6, MIM: 610852 | PMID:17360648 | ||
| ENSG00000214513 | NOTO | PMID:17884984 transcription factor regulating expression of cilia genes | PMID:17884984 | Nucleus | |
| ENSG00000144061 | NPHP1 | Known ciliopathy gene JBTS4, NPHP1, SLS1 OMIM 607100 | PMID:7806215, PMID:15138899, PMID:16885411 | Transition zone | |
| ENSG00000113971 | NPHP3 | Known ciliopathy gene MKS7, NPHP3 OMIM 608002. PMID:22328406, PMID: 22085962 | PMID:22328406 | ||
| ENSG00000131697 | NPHP4 | Known ciliopathy gene NPHP4, SLS4 OMIM 607215 | PMID:12244321, PMID:15661758 | Transition zone | |
| ENSG00000126883 | NUP214 | part of ciliary pore complex PMID:22388888 | PMID:22388888 | Transition zone | |
| ENSG00000163002 | NUP35 | nucleoporin 35kDa, part of ciliary pore complex, PMID:22388888 | PMID:22388888 | Transition zone | |
| ENSG00000075188 | NUP37 | part of ciliary pore complex PMID:22388888 | PMID:22388888 | Transition zone | |
| ENSG00000213024 | NUP62 | part of ciliary pore complex PMID:22388888 | PMID:22388888 | Transition zone | |
| ENSG00000102900 | NUP93 | part of ciliary pore complex PMID:22388888 | PMID:22388888 | Transition zone | |
| ENSG00000122126 | OCRL | Causes Lowe Syndrome. Involved in assembly of primary cilia, involed in Rab8n dependent protein trafficking to the cilium. PMID:22228094 | PMID:22228094 | Cilium | |
| ENSG00000136811 | ODF2 | Several isoforms, all have quite different function in ciliogenesis | PMID:20234188, PMID:23470458 | Basal Body | |
| ENSG00000046651 | OFD1 | JBTS10, OFD1, SGBS2 OMIM 300170 | PMID:9215688, PMID:11950863, PMID:17761535 | Basal Body, Nucleus | |
| ENSG00000085840 | ORC1 | Causes Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. knockdown affects ciliogenesis and Hh signaling. PMID: 23516378 | PMID:23516378 | ||
| ENSG00000112530 | PACRG | Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse | PMID:16278296, PMID:20106870 | Axoneme | |
| ENSG00000007168 | PAFAH1B1 | LIS1 OMIM 601545. Mammalian Lis1 localizes to motile cilia in trachea and oviduct, but is absent from non-motile primary cilia PMID:17314247 | PMID:17314247 | Axoneme | |
| ENSG00000148498 | PARD3 | Localizes to the cilium and regulates ciliogenesis PMID:15324661, PMID:18070914 | PMID:15324661, PMID:18070914 | Cilium | |
| ENSG00000102981 | PARD6A | Localizes to the cilium and regulates ciliogenesis PMID:15324661 | PMID:15324661 | Cilium | |
| ENSG00000150275 | PCDH15 | Mutation causes USH1F OMIM 605514 | PMID:11398101, PMID:11487575, PMID:14570705 | Connecting Cilium, Stereocilium | |
| ENSG00000078674 | PCM1 | Centriolar satellite protein PMID:10579718. Interacts with BBS8 PMID:14520415. Centriolar localisation dependent on BBS4 PMID:15107855. Interacts with CEP290, involved in RAB8 localisation to cilium PMID:18772192. Retrograde trafficking of PCM1 regulated by HTT and HAP1 PMID: 21985783. Recruits PLK1 to the pericentriolar matrix to promote primary cilia disassembly before mitotic entry PMID:23345402. | PMID:10579718, IPMID:14520415, PMID:15107855, PMID:18772192, PMID: 21985783, PMID:23345402. | Centriolar Satellite | |
| ENSG00000156973 | PDE6D | Part of the ARL13B, INPP5E and CEP164 network PMID: 23150559 | PMID:23150559 | ||
| ENSG00000186862 | PDZD7 | PMID:20440071 Homologue of USH1C and USH2D. Mutation modulates disease severity and onset of Usher patients | PMID:20440071 | Nucleus, Basal body | |
| ENSG00000077684 | PHF17 | JADE1. Interacts with pVHL, PC1 and NPHP4. PC1 and NPHP4 regulate JADE1 TF activity | PMID:23001567, PMID:22654112 | Basal Body, Nucleus, Transition Zone | |
| ENSG00000083535 | PIBF1 | CEP90, PMID:23110211. Centriolar satelite protein required for primary cilia formation and BBS4 localization to the cilium | PMID:23110211 | Pericentriolar Matrix | |
| ENSG00000008710 | PKD1 | OMIM 601313. Mutation causes PKD. Dimerizes with PKD2 to form a channel in the ciliary membrane | PMID:1577479, PMID:7633406, PMID:8981910, PMID:9177229 | Ciliary Membrane | |
| ENSG00000158683 | PKD1L1 | PMID:21307093 interacts with PKD2, required for normal Left-Richt patterning | PMID:21307093 | Cilium | |
| ENSG00000118762 | PKD2 | OMIM 173910. Mutation causes PKD. Dimerizes with PKD1 to form a channel in the ciliary membran | PMID:8650545 | Ciliary Membrane | |
| ENSG00000170927 | PKHD1 | OMIM 606702. Co-localizes with PKD2 to basal body and cilium. Cuases polycystic kidney and hepatic disease | PMID:11898128, PMID:14978161, PMID:15458427 | Basal Body, Cilium, Cytosol | |
| ENSG00000166851 | PLK1 | Localizes to TZ and induces phosphorylation of NPHP1 PMID:22701722 | PMID:22701722 | Transition Zone | |
| ENSG00000164087 | POC1A | Causes Primordial Dwarfism, a ciliopathy. A centriolar/basal body protein causes ciliogenesis defects and impaired mitosis PMID:22840364, OMIM:614783 | PMID:22840364 | Centriole | |
| ENSG00000185920 | PTCH1 | PMID: 17641202 | PMID:17641202 | Ciliary Membrane | |
| ENSG00000158079 | PTPDC1 | PMID:21289087 Hh signalling defects after knockdown, validated. Knockdown produces elongated cilia | PMID:21289087 | ||
| ENSG00000103769 | RAB11A | PMID:20308558. Interacts with Rabin8 to stimulate Rab8. Enriched at ciliary base. Knockdown blocks ciliogenesis | PMID:20308558 | Centrosome, Basal Body | |
| ENSG00000090565 | RAB11FIP3 | PMID:19153612 regulates trafficking of ciliary cargo | PMID:19153612 | Trans-Golgi Network | |
| ENSG00000124839 | RAB17 | PMID:17646400 involved in membrane trafficking, necessary for ciliogenesis | PMID:17646400 | Plasma Membrane | |
| ENSG00000112210 | RAB23 | PMID:17646400 involved in membrane trafficking, necessary for ciliogenesis | PMID:17646400 | ||
| ENSG00000127328 | RAB3IP | Rabin 8 PMID:17574030. Regulates GTP/GDP states of Rab8. Localizes to Basal Body and in part regulates localization of the BBSome to the basal body | PMID:17574030 | Basal Body, Centrosome | |
| ENSG00000167461 | RAB8A | PMID:17574030. Locailzes to the cilium and promotes extension of the cilium. Inactivating Rab8 (GDP-bound state) blocks ciliogenesis and induces BBS phenotypes in zebrafish | PMID:17574030 | Ciliary Membrane, Cilium | |
| ENSG00000128581 | RABL5 | IFT22, component of IFT complex B | PMID:22076686 | Cilium, IFT | |
| ENSG00000132341 | RAN | RanGTP gradient regulates entry of RP2 and kinesin motor into cilium PMID: 21285245, PMID: 20526328 | PMID:21285245, PMID:20526328 | Cilium, Cytosol | |
| ENSG00000099901 | RANBP1 | Accelerated Ran GTP->GDP conversion. knockdown of RanBP1 results in increased localization of Ran to basalbody. Also localises to Basal Body. PMID: 21998203 | PMID:21998203 | Basal Body, Cytosol | |
| ENSG00000080298 | RFX3 | PMID:15121860 transcription factor regulating expression of cilia genes | PMID:15121860 | Nucleus | |
| ENSG00000188026 | RILPL1 | Rab effector. Regulates cilium membrane content. PMID: 23264467 | PMID:23264467 | Cilium, Basal Body, Centriole | |
| ENSG00000150977 | RILPL2 | Rab effector. Regulates cilium membrane content. PMID: 23264467 | PMID:23264467 | Cilium, Basal Body | |
| ENSG00000145491 | ROPN1L | Also know as ASP. loss of ASP reduces mammalian ciliary motility PMID: 22021175 | PMID:22021175 | Cilium, Cytosol | |
| ENSG00000104237 | RP1 | Mutation causes retinitis pigmentosa. Localizes to the connecting cilium in photoreceptor cells | PMID:10401003, PMID:11773008 | Cilium, Connecting Cilium | |
| ENSG00000102218 | RP2 | OMIM 300757. Causes retinis pigmentosa, Localizes to the base of the cilium | PMID:9697692, PMID:21285245 | Basal Body | |
| ENSG00000156313 | RPGR | CORD1, RP3 OMIM 312610. Causes retinis pigmentosa, localizes to base of the cilium | PMID:8673101, PMID:15772089 | Basal Body, Centriole, Cilium | |
| ENSG00000092200 | RPGRIP1 | Known ciliopathy gene CORD13, LCA6 OMIM 605446 | PMID:11104772, PMID:15772089 | Basal Body, Centriole, Cilium, Connecting Cilium | |
| ENSG00000103494 | RPGRIP1L | Causes COACH, JBTS7, MKS5, NPHP8 OMIM 610937. Co-localizes with NPHP4 and NPHP6 to the basal body. | PMID:17558407, PMID:17558409, PMID:17960139, PMID:19410446 | Basal Body | |
| ENSG00000160188 | RSPH1 | PMID: 17451891 Radial spoke protein 44, May play an important role in male meiosis. | PMID:17451891 | Cilium, Axoneme | |
| ENSG00000130363 | RSPH3 | PMID:21289087 structural primary cilia defects after knockdown in 3 murine cell lines. PMID:19684019 RSPH3 is a protein kinase A-anchoring protein (AKAP) that scaffolds the cAMP-dependent protein kinase holoenzyme. The binding of RSPH3 to the regulatory subunits of cAMP-dependent protein kinase, RIIalpha and RIIbeta, is regulated by ERK1/2 activity and phosphorylation. | PMID:21289087 | Cilium, Axoneme | |
| ENSG00000111834 | RSPH4A | PMID:21289087 defective Hh signalling but no structural cilia defects after knockdown. Mutations in RSPH4A cause primary ciliary dyskinesia, with typical respiratory features, but without situs abnormalities. These findings suggest that radial spoke proteins are not essential for embryonic nodal ciliary function, which is important in the determination of left-right axis development PMID:19200523 | PMID:21289087 | Cilium, Axoneme | |
| ENSG00000172426 | RSPH9 | MIM: 612648. Mutations in RSPH9 cause primary ciliary dyskinesia, with typical respiratory features, but without situs abnormalities. These findings suggest that radial spoke proteins are not essential for embryonic nodal ciliary function, which is important in the determination of left-right axis development PMID:19200523. PMID:21289087 structural cilia defects of primary cilia after knockdown in 3 different murine cell lines. | PMID:21289087 | Cilium, Axoneme | |
| ENSG00000176225 | RTTN | Mutated in polymicrogyria with seizures OMIM 610436. Required for normal ciliogenesis. Structural abnormalities of the cilia in knockdowns and in patients with RTTN mutations PMID:22939636 | PMID:22939636 | Basal Body | |
| ENSG00000156876 | SASS6 | PMID: 22349705 required for centriole duplication. Null mutant cells lack primary cilia. | PMID:22349705 | Basal Body, Centriole | |
| ENSG00000151466 | SCLT1 | Distal appendage of centrioles, essential for ciliogenesis PMID:23348840. | PMID:23348840. | Centriole | |
| ENSG00000054282 | SDCCAG8 | Ciliopathy gene NPHP10, SLS7 OMIM 613524 PMID: 21199495 | PMID:21199495 | Basal Body, Centriole, Transition Zone | |
| ENSG00000168385 | SEPT2 | Forms 'diffusion barrier' at base of cilium PMID: 20558667 | PMID:20558667 | Centrosome | |
| ENSG00000122545 | SEPT7 | PMID: 20671153 | PMID:20671153 | Centrosome | |
| ENSG00000185900 | SGK196 | Hydrocephalus and infertility due to dysfunctional motile cilia, cerebellar dysplasia in KO mouse PMID: 21746835 | PMID:21746835 | ||
| ENSG00000164690 | SHH | PMID: 17641202 | PMID:17641202 | Ciliary Membrane | |
| ENSG00000180638 | SLC47A2 | PMID:22558177. Found to be co-expressed with other ciliary components. Localization studies show localization to the cilium | PMID:22558177 | Ciliary Membrane | |
| ENSG00000128602 | SMO | Localizes to Cilia Membrane when SHH bound to PTCH1 | PMID:17641202 | Ciliary Membrane | |
| ENSG00000132639 | SNAP25 | PMID:19454479 required for transport to the cilium | PMID:19454479 | Cilium, Cytosol | |
| ENSG00000086300 | SNX10 | PMID:21844891 regulates ciliogenesis | PMID:21844891 | Centrosome | |
| ENSG00000064199 | SPA17 | localized in the spermatozoa flagellar fibrous sheath, PMID: 19604394. | PMID:19604394 | Cilium | |
| ENSG00000144451 | SPAG16 | orthologue of Chlamydomonas reinhardtii PF20, a protein known to be essential to the structure and function of the 9+2 axoneme. Mutation results in instability of central pair of the human sperm axoneme PMID: 17699735 | PMID:21655194, PMID:17699735 | Axoneme | |
| ENSG00000155761 | SPAG17 | Essential for motile cilia function. KO mice have immotile nasal and tracheal cilia, respiratory problems and hydrocephalus PMID: 23418344 | PMID:23418344 | Central Pair | |
| ENSG00000077327 | SPAG6 | axoneme central apparatus protein; protein PF16 homolog; sperm flagellar protein | PMID:12167721, PMID:10493827 | Axoneme | |
| ENSG00000042317 | SPATA7 | Ciliopathy gene LCA PMID: 19268277 | PMID:19268277 | Cilium | |
| ENSG00000152582 | SPEF2 | PCD PMID: 21715716, interacts with IFT20 PMID: 19889948 | PMID:19889948, PMID:21715716 | ||
| ENSG00000176101 | SSNA1 | PMID:21289087, siRNA knockdown in 3 mouse cell lines perturbs receptor tranport into cilium and HH signalling. | PMID:21289087 | ||
| ENSG00000183473 | SSTR3 | Localized to the plasma membrane of neuronal cilia PMID: 10199624, PMID: 23392690 | PMID:10199624, PMID:23392690 | Ciliary Membrane | |
| ENSG00000123473 | STIL | PMID:22349705, OMIM:181590. Required for centriole duplication. Null mutant shows lack of primary cilia | PMID:22349705 | Centrosome | |
| ENSG00000163482 | STK36 | Hydrocephalus and infertility, due to dysfunctional motile cilia, craniofacial abnormalities and growth retardation in KO mouse PMID: 21746835 | PMID:21746835 | ||
| ENSG00000211455 | STK38L | Phosphorylates Rabin8. Mutated in canine retinal degeneration. PMID: 20887780 PMID: 23435566 | PMID:20887780, PMID:23435566 | Cytosol | |
| ENSG00000133115 | STOML3 | Localizes to Basal Body, mechanosensing channel. BBS4 snd BBS8 knock-out impede its function. PMID: 17959775 | PMID:17959775 | Basal Body | |
| ENSG00000166900 | STX3 | PMID:19454479 required for transport to the cilium | PMID:19454479 | Cilium, Cytosol | |
| ENSG00000107882 | SUFU | Localizes to ciliary tip together with GLI transcriptionfactors. Role in Hh signaling | PMID:21209912 | Ciliary Tip | |
| ENSG00000054654 | SYNE2 | interacts with meckelin, required for ciliogenesis, PMID:19596800 | PMID:19596800 | ||
| ENSG00000111490 | TBC1D30 | PMID:17646400 involved in membrane trafficking, necessary for ciliogenesis. RabGAP for Rab8a | PMID:17646400 | Basal Body | |
| ENSG00000145979 | TBC1D7 | PMID:17646400 involved in membrane trafficking, necessary for ciliogenesis. RabGAP for Rab17 | PMID:17646400 | Basal Body | |
| ENSG00000204852 | TCTN1 | Ciliopathy gene JBTS13 OMIM 609863 | PMID:21725307 | Transition Zone | |
| ENSG00000168778 | TCTN2 | Ciliopathy gene MKS8 OMIM 613846 | PMID:21725307, PMID:21565611, PMID:21462283 | Transition Zone | |
| ENSG00000119977 | TCTN3 | Ciliopathy gene JBTS18, OFD4 OMIM 613847 | PMID:22883145 | Transition Zone | |
| ENSG00000092850 | TEKT2 | Tekt2 (Tektt) -/- mice have defects in sperm and tracheal cilium motility result from defective dynein function | PMID:18227105, PMID:11751288 | Cilium | |
| ENSG00000163060 | TEKT4 | Axonemal protein required for flagella motility in mouse sperm. Expression reduced in inasthenozoospermic men. | PMID:22774605 | Cilium | |
| ENSG00000153060 | TEKT5 | PMID:20378928 PMID:17924527 Localizes throughout the sperm tail. Implicated role in sperm motility | PMID:20378928, PMID:17924527 | Cilium | |
| ENSG00000149483 | TMEM138 | Ciliopathy gene JBTS16 OMIM 614459 | PMID:22282472 | Basal Body, Cilium | |
| ENSG00000187049 | TMEM216 | Ciliopathy gene JBTS2, MKS2, CORS2 OMIM 613277 | PMID:22282472, PMID:20036350 | Basal Body, Golgi | |
| ENSG00000205084 | TMEM231 | PMID: 23012439 Joubert syndrome, PMID: 23349226 Meckel-Gruber syndrome | PMID:23012439, PMID:23349226, PMID:20512146 | Transition Zone | |
| ENSG00000155755 | TMEM237 | Ciliopathy gene Joubert syndrome 14, PMID 22152675 | PMID:22152675 | Transition Zone | |
| ENSG00000164953 | TMEM67 | Ciliopathy gene MKS3, JBTS6, NPHP11, PMID: 16415887, PMID: 17160906, PMID: 17185389, PMID: 17377820, PMID: 19058225, PMID: 19508969, | PMID:16415887, PMID:17160906, PMID:17185389, PMID:17377820, PMID:19058225, PMID:19508969 | Axoneme, Basal Body | |
| ENSG00000083312 | TNPO1 | Importin beta 2. Regulates entry of RP2 and kinesin motor into cilium PMID: 21285245, PMID: 20526328 | PMID:21285245, PMID:20526328 | Axoneme | |
| ENSG00000197579 | TOPORS | Ciliopathy gene RP31 OMIM 609507 | PMID:17924349, PMID:18509552, PMID:21159800 | Basal Body, Centrosome | |
| ENSG00000179636 | TPPP2 | PMID:21289087 IFT transport and signalling defects after knockdown, ciliary frequency not affected | PMID:21289087 | ||
| ENSG00000204104 | TRAF3IP1 | OMIM 607380. Mouse homologue encodes IFT54, component of IFT complex B. Omori et al. (2008) identified elipsa, the zebrafish ortholog of TRAF3IP1, as a component of intraflagellar transport particles, which are involved in the formation and function of cilia. Elipsa interacted with rabaptin-5 (RABEP1; 603616), a regulator of endocytosis, and rabaptin-5 in turn interacted with Rab8 (RAB8A; 165040), a small GTPase localized to cilia. Omori et al. (2008) concluded that elipsa, rabaptin-5, and Rab8 provide a bridge between the intraflagellar transport particle and protein complexes that assemble at the ciliary membrane. | PMID:21945076, PMID:19253336, PMID: 18364699. | Basal Body, Cilium, IFT, Cytoplasm, Cytoskeleton | |
| ENSG00000160218 | TRAPPC10 | PMID:21273506 required for Rabin8 centrosome trafficking and ciliogenesis | PMID:21273506 | Basal Body, Centrosome | |
| ENSG00000054116 | TRAPPC3 | OMIM: 610955. PMID:21273506 required for Rabin8 centrosome trafficking and ciliogenesis | PMID:21273506 | Basal Body, Centrosome | |
| ENSG00000167632 | TRAPPC9 | OMIM: 611966. PMID:21273506 required for Rabin8 centrosome trafficking and ciliogenesis. Inactivating mutations cause with autosomal recessive mental retardation with ambulatory but no verbal development (Joubert-like?). | PMID:21273506 | Basal Body, Centrosome | |
| ENSG00000119401 | TRIM32 | OMIM: 602290, Inactivating homozygous mutations cause ciliopathy BBS11, PMID: 16606853 | PMID:16606853 | Intermediate filaments | |
| ENSG00000100815 | TRIP11 | GMAP210 PMID: 23444385 Modulates IFT in C. elegans | PMID:23444385 | Golgi | |
| ENSG00000128881 | TTBK2 | OMIM: 611695, PMID: 23141541. Haploinsufficiency causes Spinocerebellar ataxia 11 (SCA11; 604432), a progressive cerebellar ataxia. | PMID:23141541, PMID: 18037885 | Cytoplasm | |
| ENSG00000149292 | TTC12 | Upregulated during ciliogenesis and localize to the centrosome PMID:23300604 | PMID:23300604 | Centrosome | |
| ENSG00000123607 | TTC21B | OMIM: 612014. Mutated in JBTS11, NPHP12, ATD4, PMID: 21258341 IFT complex A component | PMID:21258341 | Axoneme | |
| ENSG00000105948 | TTC26 | IFT complex B associated protein, PMID:21289087, PMID:22718903 siRNA knockdown in 3 mouse cell lines reduced cilia frequency, receptor transport into the cilium, and HH signalling. | PMID:21289087, PMID:22718903 | Basal Body, Cilium | |
| ENSG00000137473 | TTC29 | Chlamydomonas homologue encodes 44kDa subunit of axonemal dynein PMID:17981992 | PMID:17981992 | Axoneme | |
| ENSG00000197557 | TTC30A | part of the IFT-B complex. External submission. | PMID:20534810; PMID:17314406 | Cilium, IFT | |
| ENSG00000196659 | TTC30B | part of the IFT-B complex. External submission. | PMID:20534810; PMID:17314406 | Cilium, IFT | |
| ENSG00000165533 | TTC8 | BBS8, part of the BBSome and IFT RP51 OMIM | PMID:14520415 | Basal Body, Cilium, IFT | |
| ENSG00000112742 | TTK | Negatively regulates ciliogenesis. PMID: 23388454 | PMID:23388454 | Centrosome | |
| ENSG00000214021 | TTLL3 | Required for cilia tubulin glycylation PMID: 21262966 | PMID:21262966 | Cilium | |
| ENSG00000170703 | TTLL6 | Involved in cilia tubulin glutamylation PMID: 21262966 | PMID:21262966 | Cilium | |
| ENSG00000131044 | TTLL9 | Required for tubulin polyglutamylation | PMID:20188560 | Cilium | |
| ENSG00000167552 | TUBA1A | tubulin, alpha 1a | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000167553 | TUBA1C | tubulin, alpha 1c | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000127824 | TUBA4A | tubulin, alpha 4a | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000137267 | TUBB2A | tubulin, beta 2A | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000137285 | TUBB2B | tubulin, beta 2B | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000198211 | TUBB3 | tubulin, beta 3 | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000074935 | TUBE1 | Role in centriole duplication | PMID:11516662 | Centriole | |
| ENSG00000130640 | TUBGCP2 | tubulin, gamma complex associated protein 2 | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000126216 | TUBGCP3 | tubulin, gamma complex associated protein 3 | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000137822 | TUBGCP4 | tubulin, gamma complex associated protein 4 | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000153575 | TUBGCP5 | tubulin, gamma complex associated protein 5 | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000128159 | TUBGCP6 | tubulin, gamma complex associated protein 6 | PMID:11516662 | Basal Body, Centriole, Cytosol | |
| ENSG00000112041 | TULP1 | Ciliopathy gene LCA15, RP14 OMIM 602280 but localisation to the basal body or cilium hasn't been shown | PMID:9462750 | Plasma Membrane | |
| ENSG00000078246 | TULP3 | PMID:20889716 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. | PMID:20889716 | Axoneme, Ciliary Tip | |
| ENSG00000168038 | ULK4 | Hydrocephalus due to dysfunctional motile cilia in KO mouse PMID: 21746835 | PMID:21746835 | ||
| ENSG00000006611 | USH1C | Ciliopathy gene USH1C PMID: 12136232 | PMID:12136232, PMID:18339676 | Stereocilium | |
| ENSG00000182040 | USH1G | Ciliopathy gene OMIM: 607696; USH1G, PMID: 12588794 | PMID:12588794, PMID:21767579 | Cytoplasmic, Plasma Membrane, Centrosome | |
| ENSG00000042781 | USH2A | MIM: 608400, PMID: 10738000 Binds lebercilin and NINL. PMID: 18826961, Well estabilished causal relationship with Usher syndrome type II. Mouse model mimics ciliopathy disease Usher syndrome PubMed: 17360538. | PMID:10738000, PMID:16434480, PMID: 18826961, PMID: 17360538 | Cilium, Centrosome, Stereocilium, Ciliary Membrane, Cytosol | |
| ENSG00000078668 | VDAC3 | Mitochondrial porin, also a centrosomal protein. Negatively regulates ciliogenesis. PMID:23388454 | PMID:23388454 | Centrosome | |
| ENSG00000134086 | VHL | MIM: 193300, MIM: 144700, MIM: 171300, MIM: 263400; Somatic inactivation of VHL causes renal and pancreatic cysts associated with cilia loss. VHL regulates ciliary maintenance and microtubule stability. | PMID:16775032, PMID:16849532, PMID:23255108, PMID:18497742, PMID:17101696, PMID:17450132, PMID:17912253 | Cytosol, Cilium, Nucleus | |
| ENSG00000143951 | WDPCP | MIM: 613580. Also known as C2ORF86, BBS15. In Xenopus regulates septin and is necessory fro ciliogenesis. Mutations in humans cause BBS & MKS PMID: 20671153 | PMID:20671153 | Cytosol, Plasma Membrane, Axoneme | |
| ENSG00000157796 | WDR19 | MIM: 08151. Mutations in WDR19 cause ciliopathies nephronophthisis (NPHP13), Jeune and Sensenbrenner syndromes (ATD5), PMID: 22019273 IFT complex A component (aka IFT144) | PMID:22019273; PMID: 19430947 | Cilium, IFT | |
| ENSG00000118965 | WDR35 | IFT complex A component, dogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia; Human and mouse homozygouse mutations in WDR35 cause ciliopathy short-rib polydactyly syndrome. Heterozygous mutations shown to cause cranioectodermal dysplasia-2. OMIM:613602 | PMID:20817137; PMID: 21473986 | Cilium, IFT | |
| ENSG00000126870 | WDR60 | Isolated from primary cilia from mouse kidney cells and identified by mass spec PMID:22326026 | PMID:22326026 | Cilium | |
| ENSG00000152763 | WDR78 | PMID:21289087; PMID:15937072; Phylogenetically WDR78 groups with Chlamydomonas inner dynein arm proteins IC140 and IC138, suggesting that they are subunits of the inner dynein arm. siRNA knockdown of Wdr78 in 3 different mouse cell lines perturbed receptor transport to the ciliary membrane as well as HH signalling. | PMID:21289087; PMID:15937072 | Axoneme | |
| ENSG00000196236 | XPNPEP3 | nephronophisis-like nephropathy, PMID: 20179356, in proteome, cleaves N-term DNAAF1 | PMID:20179356 | Mitochondrium, Nucleus, Basal Body | |
| ENSG00000102935 | ZNF423 | PMID:22863007, OMIM:604557; Immpunopreciptitates CEP290 and colocalizes with SDCCAG8 and CEP164. Patients homozygous for ZNF423 mutations (NPHP14) manifest as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus, two mouse models available with Joubert-like cerebellar symptoms. | PMID:22863007; 17521568; 17151198 | Nucleus |
Submit corrections to the SCGS!
Use the following online form to send us corrections and additional ciliary genes (Using the 'Send Correction'-button will fill the form for you with the basic information).
We require your name and email in case we have questions regarding your submission. Your submission will be send to us in the form of an email. We will not store your email address in additional databases (other than our inbox) or pass it on to third parties. If you have any questions you can contact John van Dam at teunis.j.p.vandam at gmail.