CEP290

Summary

CEP290 (centrosomal protein 290, HGNC:29021) is a protein-coding gene on chromosome 12q21.32, encoding Centrosomal protein of 290 kDa (O15078). Involved in early and late steps in cilia formation.

This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer.

Source: NCBI Gene 80184 — RefSeq curated summary.

At a glance

• Gene–disease (curated): CEP290-related ciliopathy (Definitive, ClinGen) — +8 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 4,449 total — 446 pathogenic, 320 likely-pathogenic
• Phenotypes (HPO): 203
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_025114

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29021
Approved symbol	CEP290
Name	centrosomal protein 290
Location	12q21.32
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3
Ensembl gene	ENSG00000198707
Ensembl biotype	protein_coding
OMIM	610142
Entrez	80184

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 15 protein_coding, 10 nonsense_mediated_decay, 10 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000309041, ENST00000397838, ENST00000547691, ENST00000547926, ENST00000550962, ENST00000552770, ENST00000552810, ENST00000604024, ENST00000671777, ENST00000671822, ENST00000672414, ENST00000672647, ENST00000673058, ENST00000674712, ENST00000674889, ENST00000674971, ENST00000675089, ENST00000675230, ENST00000675361, ENST00000675408, ENST00000675476, ENST00000675559, ENST00000675628, ENST00000675794, ENST00000675833, ENST00000675894, ENST00000676074, ENST00000676181, ENST00000676190, ENST00000676331, ENST00000676351, ENST00000676363, ENST00000676418, ENST00000676448, ENST00000940537, ENST00000940538

RefSeq mRNA: 1 — MANE Select: NM_025114 NM_025114

CCDS: CCDS55858

Canonical transcript exons

ENST00000552810 — 54 exons

Exon	Start	End
ENSE00000909377	88096888	88096999
ENSE00000909406	88136643	88136786
ENSE00000909408	88139495	88139564
ENSE00001157902	88141206	88141334
ENSE00001243736	88139145	88139191
ENSE00001608216	88130545	88130565
ENSE00001609759	88086039	88086173
ENSE00001629525	88060830	88060994
ENSE00001635389	88087780	88087944
ENSE00001643963	88063981	88064115
ENSE00001649569	88050354	88050433
ENSE00001666646	88083847	88083954
ENSE00001666872	88059898	88060020
ENSE00001679972	88071781	88071926
ENSE00001688762	88068522	88068645
ENSE00001698589	88055576	88055717
ENSE00001726270	88131165	88131218
ENSE00001728207	88054340	88054413
ENSE00001728590	88062692	88062778
ENSE00001732527	88058848	88059020
ENSE00001733842	88086391	88086498
ENSE00001743473	88053652	88053746
ENSE00001748065	88130268	88130420
ENSE00001748297	88089032	88089487
ENSE00001749519	88071294	88071449
ENSE00001769218	88077697	88077918
ENSE00001779407	88083031	88083230
ENSE00001781781	88092681	88092832
ENSE00001785623	88084586	88084852
ENSE00001789331	88077222	88077344
ENSE00001797534	88079092	88079229
ENSE00001802951	88090728	88090839
ENSE00001804473	88129694	88129876
ENSE00001805527	88080182	88080395
ENSE00002309020	88093770	88093975
ENSE00002367923	88049016	88049414
ENSE00002386003	88141900	88142088
ENSE00003556292	88111202	88111351
ENSE00003586982	88118643	88118743
ENSE00003614137	88106996	88107098
ENSE00003645571	88106675	88106905
ENSE00003647740	88102838	88103011
ENSE00003661784	88109066	88109181
ENSE00003680819	88140956	88141033
ENSE00003714837	88125246	88125369
ENSE00003716560	88128946	88129035
ENSE00003718127	88115098	88115182
ENSE00003730779	88120997	88121166
ENSE00003730798	88118483	88118570
ENSE00003737866	88126316	88126438
ENSE00003740398	88120114	88120276
ENSE00003745224	88111694	88111858
ENSE00003747563	88114420	88114562
ENSE00003752031	88117033	88117145

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 91.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1417 / max 473.6693, expressed in 1654 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132402	8.1417	1654

Top tissues by expression

297 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	91.36	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.74	gold quality
ventricular zone	UBERON:0003053	90.53	gold quality
bronchial epithelial cell	CL:0002328	89.74	gold quality
calcaneal tendon	UBERON:0003701	89.69	gold quality
endothelial cell	CL:0000115	89.54	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.78	gold quality
cortical plate	UBERON:0005343	88.18	gold quality
sural nerve	UBERON:0015488	87.89	gold quality
left ovary	UBERON:0002119	87.60	gold quality
adrenal tissue	UBERON:0018303	87.33	gold quality
right ovary	UBERON:0002118	87.07	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	87.01	gold quality
tendon	UBERON:0000043	86.86	gold quality
primary visual cortex	UBERON:0002436	86.28	gold quality
nerve	UBERON:0001021	86.06	gold quality
tibial nerve	UBERON:0001323	86.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.94	gold quality
epithelium of bronchus	UBERON:0002031	85.71	gold quality
right frontal lobe	UBERON:0002810	85.70	gold quality
cerebellar hemisphere	UBERON:0002245	85.65	gold quality
adenohypophysis	UBERON:0002196	85.55	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.48	gold quality
cerebellar cortex	UBERON:0002129	85.46	gold quality
left testis	UBERON:0004533	85.34	gold quality
right testis	UBERON:0004534	85.24	gold quality
ovary	UBERON:0000992	85.22	gold quality
choroid plexus epithelium	UBERON:0003911	85.16	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.16	gold quality
bronchus	UBERON:0002185	85.05	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting CEP290, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-139-5P	99.80	69.50	1399
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-142-5P	99.48	70.92	2416
HSA-MIR-5590-3P	99.48	70.91	2429
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-3606-3P	99.11	69.84	3254
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-624-3P	98.37	67.06	1067
HSA-MIR-921	97.09	66.45	562

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• 3H11Ag is a DNA- and nuclear matrix-associated protein (PMID:15474516)
• Findings suggest a critical function for mouse CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration. (PMID:16632484)
• CEP290 (also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation (PMID:16682973)
• CEP290 mutations represent one of the most frequent causes of Leber congenital amaurosis identified so far. (PMID:16909394)
• Results confirm the high frequency of NPHP6/CEP290 mutations in our series of LCA families hailing worldwide (22%). However, it is shown that conversely to other LCA genes, NPHP6 is involved in families of European descent only (38/38). (PMID:17345604)
• Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations. (PMID:17409309)
• findings of preserved foveal cones and visual brain anatomy in Leber congenital amaurosis with CEP290 mutations, despite blindness and rod cell death, suggest an opportunity for visual restoration of central vision in this form of inherited blindness (PMID:17554762)
• Mutations in the CEP290 gene were identified in cohort with Joubert syndrome-related disorders. (PMID:17564967)
• These data identify the CEP290 gene as responsible for Meckel syndrome. (PMID:17564974)
• NPHP6/CEP290 may have a role in Joubert syndrome and Senior-Loken syndrome (PMID:17617513)
• a novel locus for MKS to a 3-Mb interval on 12q21. Sequencing of the CEP290 gene located in the minimal critical region showed a homozygous 1-bp deletion supposed to lead to loss of function of the encoded centrosomal protein CEP290/nephrocystin-6. (PMID:17705300)
• RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. (PMID:17724218)
• CEP290 is a key mediator involved in G protein trafficking. The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases. (PMID:17898177)
• CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic Leber congenital amaurosis families is lower than that of other countries. (PMID:18079693)
• Mutations in CEP290 is associated with Bardet-Biedl syndrome (PMID:18327255)
• These results suggest that CEP290 cooperates with Rab8a to promote ciliogenesis and that this function is antagonized by CP110. (PMID:18694559)
• CEP290 binds to PCM-1 and localizes to centriolar satellites in a PCM-1- and microtubule-dependent manner. (PMID:18772192)
• CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal protein CEP290. (PMID:18950740)
• CEP290 mutational spectrum in ciliopathies. (PMID:19764032)
• Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. (PMID:19959640)
• A novel nonsense mutation in CEP290 results in nonsense-associated altered splicing. (PMID:20130272)
• Our data demonstrate a key role for CEP290 in Leber Congenital Amaurosis (LCA) and identify 2 AHI1 mutations as neurological modifiers of the CEP290 related disease. (PMID:20683928)
• an overview of all CEP290 mutations identified so far, with their associated phenotypes (Review) (PMID:20690115)
• These data provide the first clear demonstration of respiratory cilia ultrastructural defects in Leber congenital amaurosis patients with CEP290 mutations. (PMID:20805370)
• Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. (PMID:21245082)
• Rkip prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration. (PMID:21685394)
• Eight patients (from five families) carried the c.2991+1655A>G mutation homozygously. Nine solitary patients carried this variant combined with a nonsense, frameshift, or splice site mutation on the second allele. A new nonsense mutation: c.1078C>T. (PMID:22355252)
• a role for AHI1 and CEP290 in multiple organs throughout development (PMID:23028714)
• Patients with Leber congenital amaurosis (LCA) and CEP290 mutations had a wide spectrum of visual acuity that was not related to age or length of follow-up. (PMID:23411883)
• NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation. (PMID:23446637)
• Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations. (PMID:23943788)
• Disruption of particular CEP290 functional domains may lead to particular disease phenotypes. (PMID:24051377)
• mutation in CEP290 gene in all three affected siblings.This novel 1-bp deletion results in a frameshift mutation leading to a premature stop codon and a truncated protein (PMID:24175892)
• The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone. (PMID:24356449)
• Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a (PMID:24421332)
• Here we discuss many of these diverse aspects of CEP290 biology and pathology in an attempt to link what we know about the molecular mechanisms of CEP290 function with what we know about CEP290-associated disease. (PMID:24664739)
• The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl-/- murine model. (PMID:24671090)
• NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. (PMID:25552655)
• DDA3 controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle. (PMID:25998387)
• Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene. (PMID:26165328)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cep290	ENSDARG00000062727
mus_musculus	Cep290	ENSMUSG00000019971
rattus_norvegicus	Cep290	ENSRNOG00000056458

Protein

Protein identifiers

Centrosomal protein of 290 kDa — O15078 (reviewed: O15078)

Alternative names: Bardet-Biedl syndrome 14 protein, Cancer/testis antigen 87, Nephrocystin-6, Tumor antigen se2-2

All UniProt accessions (19): A0A0A0MS86, A0A5F9ZHU6, A0A5F9ZHV7, A0A5K1VW81, A0A6Q8PEZ6, A0A6Q8PFZ5, A0A6Q8PG44, A0A6Q8PGA1, A0A6Q8PGB1, A0A6Q8PGC3, A0A6Q8PGP6, A0A6Q8PGQ4, A0A6Q8PH24, A0A6Q8PH78, O15078, F8VS29, F8W097, J3KNF5, S4R322

UniProt curated annotations — full annotation on UniProt →

Function. Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Required for efficient recruitment of RAB8A to primary cilium. In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5. Activates ATF4-mediated transcription.

Subunit / interactions. Part of the tectonic-like complex (also named B9 complex). Interacts with ATF4 via its N-terminal region. Associates with the BBSome complex, interacting (via N-terminus) with BBS4. Interacts with IQCB1/NPHP5; IQCB1 and CEP290/NPHP6 are proposed to form a functional NPHP5-6 module localized to the centrosome. Interacts with NPHP4; the interaction likely requires additional interactors. Interacts with ZNF423, FAM161A, CEP162, CEP162, CEP131, TALPID3, CCDC13, CC2D2A, RPGRIP1. Can self-associate (homo- or heteromeric). Interacts with CCP110; required for suppressing cilia formation. Interacts with RPGR. Associates (via C-terminus) with microtubules; association to microtubule is reduced in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, in a process that requires p38 MAP kinase signaling. Interacts with FAM161A. Interacts with PCM1. Interacts with CCDC66. Interacts with ARMC9 and CSPP1.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriolar satellite. Nucleus. Cell projection. Cilium. Cilium basal body. Centriole. Cytoplasmic vesicle.

Tissue specificity. Ubiquitous. Expressed strongly in placenta and weakly in brain.

Post-translational modifications. Ubiquitinated. May undergo monoubiquitination; monoubiquitination is inhibited in response to cellular stress, such as ultraviolet light (UV) radiation or heat shock, but does not cause its displacement from centriolar satellites.

Disease relevance. Joubert syndrome 5 (JBTS5) [MIM:610188] A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis. The disease is caused by variants affecting the gene represented in this entry. Senior-Loken syndrome 6 (SLSN6) [MIM:610189] A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. The disease is caused by variants affecting the gene represented in this entry. Leber congenital amaurosis 10 (LCA10) [MIM:611755] A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry. Meckel syndrome 4 (MKS4) [MIM:611134] A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. The disease is caused by variants affecting the gene represented in this entry. Antibodies against CEP290 are present in sera from patients with cutaneous T-cell lymphomas, but not in the healthy control population. Bardet-Biedl syndrome 14 (BBS14) [MIM:615991] A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_079390* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026201	Cep290	Family
IPR032321	Cep209_CC5	Domain

Pfam: PF16574

UniProt features (38 total): sequence variant 22, coiled-coil region 7, region of interest 5, sequence conflict 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15078-F1	60.90	0.00

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259	Loss of Nlp from mitotic centrosomes
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-6798695	Neutrophil degranulation
R-HSA-8854518	AURKA Activation by TPX2
R-HSA-1640170	Cell Cycle
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-380287	Centrosome maturation
R-HSA-453274	Mitotic G2-G2/M phases
R-HSA-5617833	Cilium Assembly
R-HSA-68877	Mitotic Prometaphase
R-HSA-68886	M Phase
R-HSA-69275	G2/M Transition
R-HSA-69278	Cell Cycle, Mitotic

MSigDB gene sets: 579 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_EPITHELIUM_DEVELOPMENT, LEE_NEURAL_CREST_STEM_CELL_DN, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_OTIC_VESICLE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_NEUROGENESIS, GGAMTNNNNNTCCY_UNKNOWN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MEMBRANE_DOCKING

GO Biological Process (15): kidney development (GO:0001822), protein transport (GO:0015031), hindbrain development (GO:0030902), otic vesicle formation (GO:0030916), eye photoreceptor cell development (GO:0042462), camera-type eye development (GO:0043010), positive regulation of DNA-templated transcription (GO:0045893), pronephros development (GO:0048793), cilium assembly (GO:0060271), regulation of establishment of protein localization (GO:0070201), positive regulation of intracellular protein transport (GO:0090316), obsolete ciliary basal body-plasma membrane docking (GO:0097711), ciliary transition zone assembly (GO:1905349), non-motile cilium assembly (GO:1905515), cell projection organization (GO:0030030)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (18): extracellular region (GO:0005576), nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), centriole (GO:0005814), cytosol (GO:0005829), membrane (GO:0016020), photoreceptor connecting cilium (GO:0032391), protein-containing complex (GO:0032991), centriolar satellite (GO:0034451), specific granule lumen (GO:0035580), ciliary transition zone (GO:0035869), MKS complex (GO:0036038), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), cilium (GO:0005929), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
G2/M Transition	3
Centrosome maturation	2
Cell Cycle, Mitotic	2
Loss of proteins required for interphase microtubule organization from the centrosome	1
Mitotic Prometaphase	1
Assembly of the 9+0 primary cilium	1
Innate Immune System	1
Immune System	1
Organelle biogenesis and maintenance	1
M Phase	1
Mitotic G2-G2/M phases	1
Cell Cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	7
microtubule organizing center	3
establishment of protein localization	2
cilium assembly	2
intracellular membraneless organelle	2
cytoplasm	2
ciliary transition zone	2
cilium	2
animal organ development	1
renal system development	1
transport	1
intracellular protein localization	1
brain development	1
anatomical structure development	1
otic vesicle morphogenesis	1
epithelial tube formation	1
eye photoreceptor cell differentiation	1
photoreceptor cell development	1
eye development	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
kidney development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
regulation of protein localization	1
intracellular protein transport	1
positive regulation of intracellular transport	1
regulation of intracellular protein transport	1
positive regulation of protein transport	1
cellular component assembly	1
cellular component organization	1
protein binding	1
binding	1

Protein interactions and networks

STRING

2378 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CEP290	IQCB1	Q15051	996
CEP290	TMEM67	Q5HYA8	991
CEP290	CCP110	O43303	986
CEP290	CC2D2A	Q9P2K1	983
CEP290	MKS1	Q9NXB0	978
CEP290	RPGRIP1L	Q68CZ1	977
CEP290	NPHP4	O75161	976
CEP290	NPHP1	O15259	975
CEP290	RPGR	Q92834	971
CEP290	TMEM216	Q9P0N5	966
CEP290	AHI1	Q8N157	957
CEP290	B9D1	Q9UPM9	955
CEP290	RPGRIP1	Q96KN7	949
CEP290	TCTN1	Q2MV58	946
CEP290	TMEM231	Q9H6L2	926

IntAct

165 interactions, top by confidence:

A	B	Type	Score
IQCB1	CEP290	psi-mi:“MI:2364”(proximity)	0.950
IQCB1	CEP290	psi-mi:“MI:0914”(association)	0.950
IQCB1	CEP290	psi-mi:“MI:0915”(physical association)	0.950
CEP290	IQCB1	psi-mi:“MI:0407”(direct interaction)	0.950
IQCB1	CEP290	psi-mi:“MI:0403”(colocalization)	0.950
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CEP290	CCP110	psi-mi:“MI:2364”(proximity)	0.890
CCP110	CEP290	psi-mi:“MI:0915”(physical association)	0.890
CEP290	CCP110	psi-mi:“MI:0915”(physical association)	0.890
CCP110	CEP290	psi-mi:“MI:0914”(association)	0.890
CCP110	CEP290	psi-mi:“MI:0403”(colocalization)	0.890
CEP290	CCP110	psi-mi:“MI:0403”(colocalization)	0.890

BioGRID (235): CEP290 (Two-hybrid), CEP290 (Affinity Capture-MS), CEP290 (Affinity Capture-MS), CEP290 (Affinity Capture-MS), CEP290 (Affinity Capture-MS), CEP290 (Proximity Label-MS), CEP170 (Affinity Capture-Western), FGFR1OP (Affinity Capture-Western), OFD1 (Affinity Capture-Western), CEP131 (Affinity Capture-MS), CCDC138 (Affinity Capture-MS), CCP110 (Affinity Capture-MS), CEP170 (Affinity Capture-MS), CEP72 (Affinity Capture-MS), CEP76 (Affinity Capture-MS)

ESM2 similar proteins: A1Z8P9, A2ZAC2, B0WPU9, B3DLE8, B3MNR6, B3NL60, B4G831, B4I5P7, B4JAL5, B4KE73, B4N1C2, B4PAF2, B4Q9E6, F1MA98, F6ZDS4, O15078, O15083, O61308, O61493, O74424, P12270, P16568, P34537, P34562, P40457, P85001, Q02455, Q11102, Q17AF4, Q1PE49, Q24185, Q29N92, Q336R3, Q5EE04, Q5ZKK5, Q60YN5, Q66GS9, Q6A078, Q6PH08, Q7PWT9

Diamond homologs: O15078, P85001, Q6A078, Q9TU23

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CEP290	“up-regulates activity”	RAB8A	binding
CEP290	up-regulates	Cilium_assembly
CNTRL	“down-regulates activity”	CEP290	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 107 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
BBSome-mediated cargo-targeting to cilium	8	62.1×	5e-11
Cargo trafficking to the periciliary membrane	7	27.1×	2e-07
Loss of Nlp from mitotic centrosomes	10	24.8×	4e-10
Loss of proteins required for interphase microtubule organization from the centrosome	10	24.8×	4e-10
Anchoring of the basal body to the plasma membrane	14	24.7×	1e-13
AURKA Activation by TPX2	10	23.8×	6e-10
Cilium Assembly	13	22.1×	3e-12
Regulation of PLK1 Activity at G2/M Transition	11	21.8×	2e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein localization to centrosome	5	35.9×	3e-05
non-motile cilium assembly	10	30.9×	2e-10
regulation of cytokinesis	6	26.9×	2e-05
substantia nigra development	6	23.4×	3e-05
protein localization to cilium	5	21.3×	2e-04
photoreceptor cell maintenance	5	19.1×	3e-04
cilium assembly	22	17.2×	1e-18
fat cell differentiation	6	11.6×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

4449 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	446
Likely pathogenic	320
Uncertain significance	1503
Likely benign	1657
Benign	110

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032904	NM_025114.4(CEP290):c.3934A>T (p.Arg1312Ter)	Pathogenic
1068566	NM_025114.4(CEP290):c.5783del (p.Lys1928fs)	Pathogenic
1068669	NM_025114.4(CEP290):c.5348_5351del (p.His1783fs)	Pathogenic
1068974	NM_025114.4(CEP290):c.1400del (p.Asn467fs)	Pathogenic
1069582	NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)	Pathogenic
1069905	NM_025114.4(CEP290):c.843_845del (p.Tyr281_Gln282delinsTer)	Pathogenic
1070282	NM_025114.4(CEP290):c.6418_6419insC (p.Val2140fs)	Pathogenic
1070346	NM_025114.4(CEP290):c.2254C>T (p.Gln752Ter)	Pathogenic
1070890	NM_025114.4(CEP290):c.6645del (p.Glu2216fs)	Pathogenic
1071059	NM_025114.4(CEP290):c.3249dup (p.Arg1084fs)	Pathogenic
1071061	NM_025114.4(CEP290):c.1987A>T (p.Lys663Ter)	Pathogenic
1071206	NM_025114.4(CEP290):c.3310-2A>G	Pathogenic
1071814	NM_025114.4(CEP290):c.355C>T (p.Gln119Ter)	Pathogenic
1072058	NM_025114.4(CEP290):c.2497del (p.Trp833fs)	Pathogenic
1072250	NC_000012.11:g.(?88512250)(88519156_?)del	Pathogenic
1072258	NM_025114.4(CEP290):c.5197C>T (p.Gln1733Ter)	Pathogenic
1072340	NM_025114.4(CEP290):c.3573+1del	Pathogenic
1072859	NM_025114.4(CEP290):c.3922C>T (p.Gln1308Ter)	Pathogenic
1073010	NM_025114.4(CEP290):c.955del (p.Ser319fs)	Pathogenic
1073038	NM_025114.4(CEP290):c.3956del (p.Leu1319fs)	Pathogenic
1073456	NM_025114.4(CEP290):c.6079del (p.Glu2027fs)	Pathogenic
1074721	NM_025114.4(CEP290):c.3334C>T (p.Gln1112Ter)	Pathogenic
1074738	NM_025114.4(CEP290):c.4195-1G>T	Pathogenic
1075565	NM_025114.4(CEP290):c.167dup (p.Ser57fs)	Pathogenic
1075783	NM_025114.4(CEP290):c.1165A>T (p.Lys389Ter)	Pathogenic
1076663	NM_025114.4(CEP290):c.3808_3809del (p.Leu1270fs)	Pathogenic
1076835	NM_025114.4(CEP290):c.4078_4081del (p.Leu1359_Lys1360insTer)	Pathogenic
1076926	NM_025114.4(CEP290):c.6994G>T (p.Glu2332Ter)	Pathogenic
1185813	NM_025114.4(CEP290):c.712G>T (p.Glu238Ter)	Pathogenic
1213968	NM_025114.4(CEP290):c.381del (p.Asp128fs)	Pathogenic

SpliceAI

7876 predictions. Top by Δscore:

Variant	Effect	Δscore
12:88049415:C:CC	acceptor_gain	1.0000
12:88049415:C:CG	acceptor_loss	1.0000
12:88049416:T:A	acceptor_loss	1.0000
12:88050348:TATTA:T	donor_loss	1.0000
12:88050349:ATTAC:A	donor_loss	1.0000
12:88050350:TTA:T	donor_loss	1.0000
12:88050351:TAC:T	donor_loss	1.0000
12:88050352:A:AC	donor_gain	1.0000
12:88050353:C:CC	donor_gain	1.0000
12:88050429:AGCAT:A	acceptor_gain	1.0000
12:88050430:GCAT:G	acceptor_gain	1.0000
12:88050431:CAT:C	acceptor_gain	1.0000
12:88050431:CATC:C	acceptor_gain	1.0000
12:88050432:AT:A	acceptor_gain	1.0000
12:88050432:ATC:A	acceptor_loss	1.0000
12:88050433:TCTG:T	acceptor_loss	1.0000
12:88050434:C:CC	acceptor_gain	1.0000
12:88050434:C:T	acceptor_loss	1.0000
12:88050435:T:G	acceptor_loss	1.0000
12:88050437:T:TC	acceptor_gain	1.0000
12:88053650:A:AC	donor_gain	1.0000
12:88053651:C:CC	donor_gain	1.0000
12:88053651:C:CT	donor_loss	1.0000
12:88053742:CTAAT:C	acceptor_gain	1.0000
12:88053743:TAAT:T	acceptor_gain	1.0000
12:88053744:AAT:A	acceptor_gain	1.0000
12:88053745:AT:A	acceptor_gain	1.0000
12:88053747:C:CC	acceptor_gain	1.0000
12:88055573:TA:T	donor_loss	1.0000
12:88055574:A:AC	donor_gain	1.0000

AlphaMissense

16548 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:88093862:C:G	A1073P	0.998
12:88118548:C:G	R549P	0.998
12:88049344:A:G	L2427P	0.997
12:88080219:A:G	L1730P	0.997
12:88118560:A:G	L545P	0.997
12:88121056:C:G	A434P	0.997
12:88079204:A:G	L1751P	0.996
12:88093864:C:G	R1072P	0.996
12:88118539:A:G	L552P	0.996
12:88079181:C:G	A1759P	0.995
12:88102914:A:G	L972P	0.995
12:88128951:A:G	W313R	0.995
12:88128951:A:T	W313R	0.995
12:88080231:A:G	L1726P	0.994
12:88093801:C:G	R1093P	0.994
12:88118653:A:G	L538P	0.994
12:88140963:A:G	L58P	0.994
12:88064027:A:G	L2075P	0.993
12:88079201:C:G	R1752P	0.993
12:88089183:A:G	L1293P	0.993
12:88111755:A:G	L719P	0.993
12:88130281:A:G	L219P	0.993
12:88130293:A:G	L215P	0.993
12:88060963:A:G	L2130P	0.992
12:88087886:C:G	R1363P	0.992
12:88125356:C:G	R360P	0.992
12:88071900:C:A	W1912C	0.991
12:88071900:C:G	W1912C	0.991
12:88089252:A:G	L1270P	0.991
12:88089273:A:G	L1263P	0.991

dbSNP variants (sampled 300 via entrez): RS1000049254 (12:88132807 G>T), RS1000092635 (12:88056074 A>G), RS1000099371 (12:88118517 C>G), RS1000284798 (12:88130641 A>G), RS1000311370 (12:88059630 A>C), RS1000385105 (12:88077886 T>C), RS1000392003 (12:88124086 C>A,T), RS1000392066 (12:88051697 A>G), RS1000416173 (12:88099135 A>G), RS1000437972 (12:88110373 T>C), RS1000483879 (12:88113534 T>A), RS1000484488 (12:88133139 G>A,T), RS1000529410 (12:88059470 C>A,T), RS1000582287 (12:88084389 T>C), RS1000635470 (12:88051035 A>G)

Disease associations

OMIM: gene MIM:610142 | disease phenotypes: MIM:213300, MIM:249000, MIM:204000, MIM:256100, MIM:610188, MIM:610189, MIM:611134, MIM:611755, MIM:615991, MIM:266900, MIM:268000, MIM:608779, MIM:612284, MIM:173900, MIM:619751, MIM:607361, MIM:308350, MIM:209900, MIM:120970, MIM:108600

GenCC curated gene-disease

Disease	Classification	Inheritance
Joubert syndrome 5	Definitive	Autosomal recessive
Bardet-Biedl syndrome 14	Strong	Autosomal recessive
Leber congenital amaurosis 10	Strong	Autosomal recessive
Bardet-Biedl syndrome	Supportive	Autosomal recessive
Joubert syndrome with oculorenal defect	Supportive	Autosomal recessive
Senior-Loken syndrome	Supportive	Autosomal recessive
Meckel syndrome	Supportive	Autosomal recessive
Leber congenital amaurosis	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
CEP290-related ciliopathy	Definitive	AR

Mondo (38): Joubert syndrome (MONDO:0018772), Meckel syndrome (MONDO:0018921), Leber congenital amaurosis (MONDO:0018998), nephronophthisis (MONDO:0019005), kidney disorder (MONDO:0005240), Joubert syndrome 5 (MONDO:0012432), Senior-Loken syndrome 6 (MONDO:0012433), Meckel syndrome, type 4 (MONDO:0012626), Leber congenital amaurosis 10 (MONDO:0012723), Bardet-Biedl syndrome 14 (MONDO:0014442), inherited retinal dystrophy (MONDO:0019118), Joubert syndrome 1 (MONDO:0008944), CEP290-related ciliopathy (MONDO:0100451), Senior-Loken syndrome (MONDO:0017842), retinitis pigmentosa (MONDO:0019200)

Orphanet (16): Isolated Joubert syndrome (Orphanet:475), Meckel syndrome (Orphanet:564), Leber congenital amaurosis (Orphanet:65), Nephronophthisis (Orphanet:655), Bardet-Biedl syndrome (Orphanet:110), Joubert syndrome with oculorenal defect (Orphanet:2318), Senior-Loken syndrome (Orphanet:3156), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), COG7-CDG (Orphanet:79333), Atypical hemolytic uremic syndrome (Orphanet:2134), Occipital encephalocele (Orphanet:268823), Joubert syndrome and related disorders (Orphanet:140874), Cone rod dystrophy (Orphanet:1872), Spastic ataxia (Orphanet:316226)

HPO phenotypes

203 total (30 of 203 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000011	Neurogenic bladder
HP:0000028	Cryptorchidism
HP:0000037	Male pseudohermaphroditism
HP:0000062	Ambiguous genitalia
HP:0000068	Urethral atresia
HP:0000073	Ureteral duplication
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000085	Horseshoe kidney
HP:0000090	Nephronophthisis
HP:0000100	Nephrotic syndrome
HP:0000107	Renal cyst
HP:0000112	Nephropathy
HP:0000119	Abnormality of the genitourinary system
HP:0000126	Hydronephrosis
HP:0000135	Hypogonadism
HP:0000147	Polycystic ovaries
HP:0000163	Abnormal oral cavity morphology
HP:0000175	Cleft palate
HP:0000218	High palate
HP:0000221	Furrowed tongue
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002595_19	Clozapine-induced agranulocytosis	6.000000e-06
GCST003124_31	Mild influenza (H1N1) infection	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)

MeSH disease descriptors (26)

Descriptor	Name	Tree numbers
D065766	Atypical Hemolytic Uremic Syndrome	C12.050.351.968.419.936.463.500; C12.200.777.419.936.463.500; C12.950.419.936.463.500; C15.378.050.141.610.500; C15.378.140.855.925.500.500; C15.378.243.937.925.500.500
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D001766	Blindness	C10.597.751.941.162; C11.966.075; C23.888.592.763.941.162
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D005923	Glomerulosclerosis, Focal Segmental	C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009755	Night Blindness	C11.966.671
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D007690	Polycystic Kidney Diseases	C12.050.351.968.419.403.875; C12.200.777.419.403.875; C12.950.419.403.875; C16.131.077.717; C16.320.184.625
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C537430	Arima syndrome (supp.)
C567141	Bardet-Biedl Syndrome 14 (supp.)
C535754	Congenital disorder of glycosylation type 2E (supp.)
C537688	Joubert syndrome 5 (supp.)
C565720	Leber Congenital Amaurosis 10 (supp.)
C567365	Meckel Syndrome, Type 6 (supp.)
C536132	Meckel syndrome type 3 (supp.)
C537580	Senior Loken Syndrome (supp.)
C565708	Senior-Loken Syndrome 6 (supp.)
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, decreases expression, decreases methylation	3
Cyclosporine	increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pinosylvin	increases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Bortezomib	increases expression	1
Irinotecan	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cannabidiol	affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1
Clorgyline	increases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	decreases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Selenium	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A5QR	CEIi001-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

316 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00067990	PHASE4	COMPLETED	Angiotensin II Blockade for Chronic Allograft Nephropathy
NCT00117078	PHASE4	COMPLETED	Aranesp® Monthly Preference Study - 2
NCT00117130	PHASE4	COMPLETED	Study to Evaluate Effectiveness of Aranesp®
NCT00132431	PHASE4	COMPLETED	START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00140985	PHASE4	COMPLETED	Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213)
NCT00246129	PHASE4	COMPLETED	CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00275535	PHASE4	COMPLETED	The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients
NCT00282217	PHASE4	COMPLETED	Study Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00289614	PHASE4	COMPLETED	Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT)
NCT00290069	PHASE4	UNKNOWN	Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA)
NCT00338468	PHASE4	TERMINATED	A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00443508	PHASE4	UNKNOWN	Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion
NCT00452478	PHASE4	TERMINATED	Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5
NCT00492518	PHASE4	COMPLETED	Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00505102	PHASE4	UNKNOWN	Safe Renal Function In Long Term Heart Transplanted Patients
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00688480	PHASE4	COMPLETED	Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction?
NCT00863707	PHASE4	COMPLETED	A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment
NCT01101698	PHASE4	UNKNOWN	Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients
NCT01150201	PHASE4	COMPLETED	Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease
NCT01155141	PHASE4	COMPLETED	Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH
NCT01228279	PHASE4	COMPLETED	Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis
NCT01334333	PHASE4	COMPLETED	Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients
NCT01437943	PHASE4	TERMINATED	Effect of Short Term Aliskiren Treatment in Kidney Transplant Patients
NCT01545479	PHASE4	COMPLETED	Increased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition
NCT01614431	PHASE4	COMPLETED	N Acetyl Cysteine for Cystinosis Patients
NCT01631149	PHASE4	COMPLETED	Effect of Deep BLock on Intraoperative Surgical Conditions
NCT01722513	PHASE4	UNKNOWN	Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy
NCT01985360	PHASE4	COMPLETED	ISCHEMIA-Chronic Kidney Disease Trial
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