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.

Current and older versions of the SCGS
SCGS v1 .XLSX .TSV*

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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!

The SysCilia Gold Standard Version 1
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

 

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