RPGRIP1L

Summary

RPGRIP1L (RPGRIP1 like, HGNC:29168) is a protein-coding gene on chromosome 16q12.2, encoding Protein fantom (Q68CZ1). Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R).

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5).

Source: NCBI Gene 23322 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 23
• Clinical variants (ClinVar): 2,164 total — 159 pathogenic, 132 likely-pathogenic
• Phenotypes (HPO): 121
• MANE Select transcript: NM_015272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29168
Approved symbol	RPGRIP1L
Name	RPGRIP1 like
Location	16q12.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134
Ensembl gene	ENSG00000103494
Ensembl biotype	protein_coding
OMIM	610937
Entrez	23322

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 12 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000262135, ENST00000562230, ENST00000562588, ENST00000563746, ENST00000564374, ENST00000565343, ENST00000566096, ENST00000568009, ENST00000568653, ENST00000569716, ENST00000621565, ENST00000647211, ENST00000679110, ENST00000680193, ENST00000680907, ENST00000681587, ENST00000935860, ENST00000944945

RefSeq mRNA: 6 — MANE Select: NM_015272 NM_001127897, NM_001308334, NM_001328422, NM_001328423, NM_001330538, NM_015272

CCDS: CCDS32447, CCDS45486, CCDS76868, CCDS81980, CCDS86526, CCDS86527

Canonical transcript exons

ENST00000647211 — 27 exons

Exon	Start	End
ENSE00000684188	53605481	53605614
ENSE00000684189	53610967	53611051
ENSE00000684191	53619025	53619208
ENSE00000852643	53675017	53675122
ENSE00000852644	53672870	53673016
ENSE00000852645	53671510	53671583
ENSE00001108326	53648964	53649115
ENSE00001108328	53641033	53641116
ENSE00001108330	53652535	53652987
ENSE00001108337	53641285	53641475
ENSE00001108338	53645625	53646003
ENSE00001141051	53658772	53658878
ENSE00001141059	53664870	53665009
ENSE00001141083	53686433	53686576
ENSE00001483054	53622219	53622356
ENSE00001483058	53638310	53638411
ENSE00001483076	53687863	53687965
ENSE00001618773	53692066	53692364
ENSE00001746874	53696151	53696295
ENSE00002629486	53598153	53602188
ENSE00002713654	53700639	53700730
ENSE00003484827	53657453	53657632
ENSE00003569393	53636439	53636512
ENSE00003585235	53637695	53637854
ENSE00003589535	53658414	53658464
ENSE00003652689	53656472	53656589
ENSE00003719160	53703803	53703859

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 89.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7780 / max 588.4982, expressed in 1660 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157407	13.1593	1653
157408	0.6186	363

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	89.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.68	gold quality
epithelium of bronchus	UBERON:0002031	83.93	gold quality
ventricular zone	UBERON:0003053	82.69	gold quality
right testis	UBERON:0004534	82.69	gold quality
bronchus	UBERON:0002185	82.54	gold quality
left testis	UBERON:0004533	82.42	gold quality
testis	UBERON:0000473	82.08	gold quality
right uterine tube	UBERON:0001302	80.94	gold quality
calcaneal tendon	UBERON:0003701	80.52	gold quality
cortical plate	UBERON:0005343	80.03	gold quality
stromal cell of endometrium	CL:0002255	79.81	gold quality
ganglionic eminence	UBERON:0004023	79.52	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.89	gold quality
tibia	UBERON:0000979	78.76	gold quality
adrenal tissue	UBERON:0018303	77.48	gold quality
adenohypophysis	UBERON:0002196	77.31	gold quality
pituitary gland	UBERON:0000007	76.91	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	76.35	gold quality
choroid plexus epithelium	UBERON:0003911	75.72	gold quality
prefrontal cortex	UBERON:0000451	75.43	gold quality
islet of Langerhans	UBERON:0000006	75.37	gold quality
right adrenal gland cortex	UBERON:0035827	75.29	gold quality
right adrenal gland	UBERON:0001233	74.52	gold quality
Brodmann (1909) area 23	UBERON:0013554	74.31	gold quality
left adrenal gland	UBERON:0001234	74.17	gold quality
left adrenal gland cortex	UBERON:0035825	73.73	gold quality
embryo	UBERON:0000922	73.67	gold quality
right frontal lobe	UBERON:0002810	72.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

169 targeting RPGRIP1L, 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-3646	100.00	73.56	5283
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 27)

• Responsible for Joubert syndrome, affecting cilia and basal bodies. (PMID:17558407)
• Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome. (PMID:17558409)
• T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of Joubert syndrome type B patients negative for NPHP1, NPHP6, or AHI1 mutations (PMID:17960139)
• Discuss Fto/Ftm gene expression regulation via CUTL1. (PMID:18256137)
• Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies. Review. (PMID:18281315)
• RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%). (PMID:18565097)
• data suggest that RPGRIP1L suppresses anchorage-independent growth partly through the mitotic checkpoint protein Mad2. (PMID:19410446)
• RPGRIP1L interacts with retinitis pigmentosa GTPase, loss of which causes retinal degeneration. (PMID:19430481)
• Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. (PMID:19574260)
• CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4. (PMID:20519441)
• Insulin was identified as a key factor regulating FTM expression during human preadipocyte differentiation. (PMID:20865646)
• Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly. (PMID:21685204)
• Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. (PMID:21857984)
• Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. (PMID:22183348)
• First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia. (PMID:22425971)
• All Spanish families with Alstrom syndrome were homozygous for 229A allele of RPGRIP1L, with the exception of a p.A229T heterozygous patient. (PMID:22876109)
• KIAA1005 (rs3213758)is associated with single nucleotide polymorphisms in Korean patients, either non-segmental or segmental type. (PMID:23678272)
• Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). (PMID:27434533)
• our studies revealed RPGRIP1L as a novel MyoVa-binding protein - the first to be demonstrated to interact with MyoVa at the centrosome - and uncover an unprecedented link between MyoVa and ciliogenesis, providing new perspectives for studies aiming to better understand why defects in MyoVa cause neurological disorders in Griscelli syndrome patients. (PMID:28266547)
• Loss of Rpgrip1l expression is associated with Ciliopathy. (PMID:29650680)
• we didn’t found the significant association between RPGRIP1L and BMI in Chinese women (PMID:29657248)
• T allele in RPGRIP1L gene might increase the risk of vitiligo in a Chinese Han population. (PMID:30539925)
• it might be reasonable to consider RPGRIP1L as an important gene whose variations could be associated with obesity risk factors. (PMID:30597647)
• Biotinylation assays on cell surface proteins not only reinforced the role of RPGRIP1L in desmoglein endocytosis, but also suggested that RPGRIP1L may be more broadly involved in endocytosis. Thus, data obtained from this study advanced our understanding of the biological functions of RPGRIP1L by identifying its role in the cellular endocytic pathway. (PMID:30689641)
• Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone. (PMID:33625872)
• The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. (PMID:33808286)
• Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family. (PMID:35233738)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpgrip1l	ENSDARG00000051754
mus_musculus	Rpgrip1l	ENSMUSG00000033282
rattus_norvegicus	Rpgrip1l	ENSRNOG00000011829
caenorhabditis_elegans		WBGENE00007490
caenorhabditis_elegans		WBGENE00206538

Paralogs (1): RPGRIP1 (ENSG00000092200)

Protein

Protein identifiers

Protein fantom — Q68CZ1 (reviewed: Q68CZ1)

Alternative names: Nephrocystin-8, RPGR-interacting protein 1-like protein

All UniProt accessions (10): Q68CZ1, A0A087WX34, A0A7P0TB06, H3BPF5, H3BPS4, H3BS47, H3BV03, I3L1B5, I3L2P2, J3QLR9

UniProt curated annotations — full annotation on UniProt →

Function. Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis. Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins. Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2.

Subunit / interactions. Interacts with NPHP4 and NPHP1; NPHP1, NPHP4 and RPGRIP1L are proposed to form a functional NPHP1-4-8 module localized to cell-cell contacts and the ciliary transition zone; NPHP4 mediates the interaction between NPHP1 and RPGRIP1L. Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with TBXA2R (via C-terminus). Interacts with RPGR. Interacts with NEK4. Interacts with NPHP4, INVS and DVL2; the complex is proposed to be involved in DVL2 stabilization.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium basal body. Cilium axoneme. Microtubule organizing center. Centrosome. Cell junction. Tight junction.

Tissue specificity. Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney.

Disease relevance. Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including RPGRIP1L, influence the clinical outcome. Joubert syndrome 7 (JBTS7) [MIM:611560] 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. The disease is caused by variants affecting the gene represented in this entry. Meckel syndrome 5 (MKS5) [MIM:611561] 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. COACH syndrome 3 (COACH3) [MIM:619113] A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the RPGRIP1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q68CZ1-1	1	yes
Q68CZ1-2	2

RefSeq proteins (6): NP_001121369, NP_001295263, NP_001315351, NP_001315352, NP_001317467, NP_056087* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR021656	C2-C2_1	Domain
IPR031139	RPGRIP1_fam	Family
IPR035892	C2_domain_sf	Homologous_superfamily
IPR041091	RPGRIP1_C	Domain

Pfam: PF00168, PF11618, PF18111

UniProt features (47 total): sequence variant 19, strand 9, sequence conflict 5, helix 3, coiled-coil region 3, domain 2, splice variant 2, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2YRB	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68CZ1-F1	71.02	0.29

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5610787	Hedgehog ‘off’ state
R-HSA-5620912	Anchoring of the basal body to the plasma membrane

MSigDB gene sets: 493 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, AAGCAAT_MIR137, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_HINDLIMB_MORPHOGENESIS, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_NEUROGENESIS, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_NEURAL_RETINA_DEVELOPMENT, GOBP_FORELIMB_MORPHOGENESIS, GOBP_VENTRICULAR_SYSTEM_DEVELOPMENT

GO Biological Process (27): in utero embryonic development (GO:0001701), establishment of planar polarity (GO:0001736), kidney development (GO:0001822), liver development (GO:0001889), establishment or maintenance of cell polarity (GO:0007163), determination of left/right symmetry (GO:0007368), regulation of smoothened signaling pathway (GO:0008589), neural tube patterning (GO:0021532), cerebellum development (GO:0021549), lateral ventricle development (GO:0021670), olfactory bulb development (GO:0021772), corpus callosum development (GO:0022038), embryonic forelimb morphogenesis (GO:0035115), embryonic hindlimb morphogenesis (GO:0035116), nose development (GO:0043584), negative regulation of G protein-coupled receptor signaling pathway (GO:0045744), retinal rod cell development (GO:0046548), pericardium development (GO:0060039), cochlea development (GO:0090102), non-motile cilium assembly (GO:1905515), brain development (GO:0007420), regulation of signal transduction (GO:0009966), telencephalon development (GO:0021537), limb morphogenesis (GO:0035108), camera-type eye development (GO:0043010), cilium assembly (GO:0060271), head development (GO:0060322)

GO Molecular Function (2): thromboxane A2 receptor binding (GO:0031870), protein binding (GO:0005515)

GO Cellular Component (15): cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), bicellular tight junction (GO:0005923), cilium (GO:0005929), axoneme (GO:0005930), nuclear speck (GO:0016607), photoreceptor connecting cilium (GO:0032391), ciliary transition zone (GO:0035869), ciliary basal body (GO:0036064), cytoskeleton (GO:0005856), cell projection (GO:0042995), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by Hedgehog	1
Assembly of the 9+0 primary cilium	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	5
cellular anatomical structure	5
telencephalon development	2
embryonic limb morphogenesis	2
microtubule organizing center	2
cilium	2
chordate embryonic development	1
morphogenesis of a polarized epithelium	1
establishment of tissue polarity	1
animal organ development	1
renal system development	1
gland development	1
hepaticobiliary system development	1
cellular process	1
determination of bilateral symmetry	1
left/right pattern formation	1
smoothened signaling pathway	1
regulation of signal transduction	1
regionalization	1
neural tube development	1
metencephalon development	1
ventricular system development	1
olfactory lobe development	1
forelimb morphogenesis	1
hindlimb morphogenesis	1
sensory organ development	1
respiratory system development	1
G protein-coupled receptor signaling pathway	1
regulation of G protein-coupled receptor signaling pathway	1
negative regulation of signal transduction	1
eye photoreceptor cell development	1
retinal rod cell differentiation	1
heart development	1
epithelium development	1
inner ear development	1
cilium assembly	1
prostanoid receptor binding	1
binding	1
intracellular anatomical structure	1
centriole	1

Protein interactions and networks

STRING

1720 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPGRIP1L	NPHP4	O75161	998
RPGRIP1L	NPHP1	O15259	993
RPGRIP1L	CEP290	O15078	977
RPGRIP1L	TMEM67	Q5HYA8	970
RPGRIP1L	CC2D2A	Q9P2K1	969
RPGRIP1L	TMEM216	Q9P0N5	957
RPGRIP1L	RPGR	Q92834	943
RPGRIP1L	NPHP3	Q7Z494	940
RPGRIP1L	AHI1	Q8N157	939
RPGRIP1L	PSMD2	Q13200	916
RPGRIP1L	ARL13B	Q3SXY8	899
RPGRIP1L	MKS1	Q9NXB0	892
RPGRIP1L	TMEM231	Q9H6L2	879
RPGRIP1L	B9D1	Q9UPM9	868
RPGRIP1L	TMEM237	Q96Q45	866

IntAct

68 interactions, top by confidence:

A	B	Type	Score
NPHP1	NPHP4	psi-mi:“MI:2364”(proximity)	0.930
NPHP1	NPHP4	psi-mi:“MI:0914”(association)	0.930
RPGRIP1L	NPHP4	psi-mi:“MI:0915”(physical association)	0.760
RPGR	NPHP4	psi-mi:“MI:2364”(proximity)	0.730
RPGR	NPHP1	psi-mi:“MI:0914”(association)	0.560
Rpgr	RPGRIP1L	psi-mi:“MI:0915”(physical association)	0.510
RPGRIP1L	Rpgr	psi-mi:“MI:0915”(physical association)	0.510
RPGRIP1L	PPP1CA	psi-mi:“MI:0407”(direct interaction)	0.440
PCM1	CEP162	psi-mi:“MI:0914”(association)	0.420
RPGRIP1L	CCP110	psi-mi:“MI:0914”(association)	0.420
CEP162	CCP110	psi-mi:“MI:2364”(proximity)	0.420
RPGRIP1L	LAS1L	psi-mi:“MI:0915”(physical association)	0.400
RPGRIP1L	KIF2A	psi-mi:“MI:0914”(association)	0.350
SPATA7	CFAP410	psi-mi:“MI:0914”(association)	0.350
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
NEK4	QSOX1	psi-mi:“MI:0914”(association)	0.350
RPGR	NPHP1	psi-mi:“MI:0914”(association)	0.350
ZSCAN29	GSDME	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
PNMA2	TARS3	psi-mi:“MI:0914”(association)	0.350
TRIM52	MEIOC	psi-mi:“MI:0914”(association)	0.350
INSYN1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
WHAMMP3	EXOC5	psi-mi:“MI:0914”(association)	0.350
SPMAP2	PRICKLE3	psi-mi:“MI:0914”(association)	0.350
WHAMMP3	CCDC22	psi-mi:“MI:0914”(association)	0.350
	TTC8	psi-mi:“MI:0914”(association)	0.350

BioGRID (239): RPGRIP1L (Affinity Capture-RNA), RPGRIP1L (Affinity Capture-RNA), RPGRIP1L (Affinity Capture-Western), CCP110 (Affinity Capture-Western), CEP170 (Affinity Capture-Western), CEP192 (Affinity Capture-Western), KIAA0753 (Affinity Capture-Western), OFD1 (Affinity Capture-Western), PCM1 (Affinity Capture-Western), PCNT (Affinity Capture-MS), CSPP1 (Affinity Capture-MS), MPRIP (Affinity Capture-MS), PCM1 (Affinity Capture-MS), CEP170B (Affinity Capture-MS), IPO7 (Affinity Capture-MS)

ESM2 similar proteins: A0JN62, A2RT67, A2RUS2, A2VDU2, A4IFB6, A4IIM3, A7MBL8, B1H2P5, B4F779, O94967, P48553, Q08CL8, Q0VEJ0, Q14161, Q15650, Q3TLI0, Q4R350, Q5RAQ5, Q5RCP7, Q5RDV5, Q5TKA1, Q5XIA4, Q5ZIW2, Q5ZJK1, Q68CZ1, Q6AYF1, Q6QD73, Q7TSG1, Q7ZYH1, Q8BH15, Q8BIK4, Q8BKH7, Q8C735, Q8CG73, Q8CGF6, Q8IWR0, Q8IZQ1, Q8N6S4, Q8N960, Q8NEU8

Diamond homologs: A0A096LPI5, A6NIU2, A6NJG6, F2Z398, P0DTE4, P51957, Q09FC8, Q5H9K5, Q5T7P6, Q68CZ1, Q6B4Z3, Q6UX73, Q86U02, Q8IV13, Q8N7M2, Q8N9N2, Q8NDZ0, Q8NEM8, Q8TDM0, Q92918, Q96J02, Q96MD7, Q9BUA6, Q9NXG0, Q8N2A0, A7MB40, P78312, Q8CGI1, A2RRD8, A6NHJ4, P0CJ79, P17035, P51522, Q08AN1, Q0VGE8, Q3MIS6, Q5HY98, Q5R8X1, Q5RER9, Q5VIY5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RPGRIP1L	down-regulates	RELA	demethylation
RPGRIP1L	down-regulates	NfKb-p65/p50	demethylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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
Anchoring of the basal body to the plasma membrane	10	35.3×	3e-11
Loss of Nlp from mitotic centrosomes	7	34.7×	8e-08
Loss of proteins required for interphase microtubule organization from the centrosome	7	34.7×	8e-08
AURKA Activation by TPX2	7	33.3×	8e-08
Recruitment of mitotic centrosome proteins and complexes	7	29.7×	1e-07
Regulation of PLK1 Activity at G2/M Transition	7	27.8×	2e-07
Recruitment of NuMA to mitotic centrosomes	7	25.5×	3e-07
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	5	18.2×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
cilium assembly	7	9.5×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2164 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	159
Likely pathogenic	132
Uncertain significance	800
Likely benign	824
Benign	50

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1032670	NM_015272.5(RPGRIP1L):c.2581_2582insG (p.Leu861fs)	Pathogenic
1066451	NC_000016.9:g.(?53639383)(53698931_?)del	Pathogenic
1068	NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)	Pathogenic
1068465	NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter)	Pathogenic
1068561	NM_015272.5(RPGRIP1L):c.2711del (p.Lys904fs)	Pathogenic
1068738	NM_015272.5(RPGRIP1L):c.2582dup (p.Ser862fs)	Pathogenic
1069	NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)	Pathogenic
1069111	NM_015272.5(RPGRIP1L):c.663_664dup (p.Ile222fs)	Pathogenic
1069496	NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter)	Pathogenic
1070	NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)	Pathogenic
1070007	NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter)	Pathogenic
1070105	NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter)	Pathogenic
1071499	NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter)	Pathogenic
1072	NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter)	Pathogenic
1072338	NM_015272.5(RPGRIP1L):c.1920dup (p.Glu641Ter)	Pathogenic
1073	NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter)	Pathogenic
1073461	NM_015272.5(RPGRIP1L):c.149del (p.Leu50fs)	Pathogenic
1074159	NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter)	Pathogenic
1075586	NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs)	Pathogenic
1076236	NC_000016.9:g.(?53729213)(53730217_?)del	Pathogenic
1076237	NC_000016.9:g.(?53652917)(53656288_?)del	Pathogenic
1076238	NC_000016.9:g.(?53720335)(53721887_?)del	Pathogenic
1077	NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)	Pathogenic
1080	NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)	Pathogenic
1185042	NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter)	Pathogenic
1323533	NM_015272.5(RPGRIP1L):c.3545del (p.Pro1182fs)	Pathogenic
1323535	NM_015272.5(RPGRIP1L):c.2921del (p.Lys974fs)	Pathogenic
1370102	NC_000016.9:g.(?53698772)(53734645_?)del	Pathogenic
1384547	NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter)	Pathogenic
1391379	NM_015272.5(RPGRIP1L):c.3605_3608del (p.Asn1202fs)	Pathogenic

SpliceAI

4756 predictions. Top by Δscore:

Variant	Effect	Δscore
16:53602040:A:AC	donor_gain	1.0000
16:53602041:C:CC	donor_gain	1.0000
16:53602189:C:CC	acceptor_gain	1.0000
16:53605513:T:A	donor_gain	1.0000
16:53605610:GAAGG:G	acceptor_gain	1.0000
16:53605612:AGG:A	acceptor_gain	1.0000
16:53605613:GG:G	acceptor_gain	1.0000
16:53605614:GC:G	acceptor_loss	1.0000
16:53605615:C:CA	acceptor_loss	1.0000
16:53605615:C:CC	acceptor_gain	1.0000
16:53619023:A:AC	donor_gain	1.0000
16:53619023:A:T	donor_loss	1.0000
16:53619023:AC:A	donor_gain	1.0000
16:53619024:C:CC	donor_gain	1.0000
16:53619024:CC:C	donor_gain	1.0000
16:53619024:CCA:C	donor_gain	1.0000
16:53619024:CCATT:C	donor_gain	1.0000
16:53619204:GATGG:G	acceptor_gain	1.0000
16:53619205:ATGG:A	acceptor_gain	1.0000
16:53619206:TGG:T	acceptor_gain	1.0000
16:53619207:GG:G	acceptor_gain	1.0000
16:53619208:GC:G	acceptor_loss	1.0000
16:53619208:GCTGT:G	acceptor_gain	1.0000
16:53619209:C:CC	acceptor_gain	1.0000
16:53619211:G:C	acceptor_gain	1.0000
16:53619212:T:TC	acceptor_gain	1.0000
16:53619213:T:C	acceptor_gain	1.0000
16:53619213:T:TC	acceptor_gain	1.0000
16:53619221:C:CT	acceptor_gain	1.0000
16:53619222:A:T	acceptor_gain	1.0000

AlphaMissense

8773 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:53641413:A:G	W916R	0.999
16:53641413:A:T	W916R	0.999
16:53657487:A:G	L516P	0.998
16:53657508:A:G	L509P	0.998
16:53692341:A:G	L85P	0.998
16:53645741:A:G	L856P	0.997
16:53692344:C:G	R84P	0.997
16:53692360:C:G	A79P	0.997
16:53605606:A:G	F1237S	0.996
16:53641411:C:A	W916C	0.996
16:53641411:C:G	W916C	0.996
16:53692251:A:G	L115P	0.996
16:53602149:A:G	L1292P	0.995
16:53619126:A:G	L1172P	0.995
16:53619174:A:G	L1156P	0.995
16:53645714:A:T	V865D	0.995
16:53692350:A:G	L82S	0.995
16:53641412:C:G	W916S	0.994
16:53652969:G:T	A573D	0.994
16:53657527:C:G	A503P	0.994
16:53692230:A:G	L122P	0.994
16:53619122:A:C	F1173L	0.993
16:53619122:A:T	F1173L	0.993
16:53619124:A:G	F1173L	0.993
16:53645864:A:T	V815D	0.993
16:53645933:A:G	L792P	0.993
16:53664938:A:G	L392P	0.993
16:53671549:C:G	R355P	0.993
16:53692352:C:A	K81N	0.993
16:53692352:C:G	K81N	0.993

dbSNP variants (sampled 300 via entrez): RS1000004866 (16:53702021 T>C), RS1000015985 (16:53659580 G>A,T), RS1000048595 (16:53655919 A>G), RS1000075018 (16:53700486 A>C), RS1000078215 (16:53610087 A>G), RS1000174022 (16:53694765 G>A,C), RS1000227750 (16:53694563 C>T), RS1000233828 (16:53647137 A>G,T), RS1000247094 (16:53671032 G>A), RS1000282366 (16:53650435 T>A), RS1000324090 (16:53644430 A>G), RS1000332868 (16:53636356 T>G), RS1000347369 (16:53671269 T>C,G), RS1000362900 (16:53624911 G>A), RS1000389519 (16:53644128 A>C)

Disease associations

OMIM: gene MIM:610937 | disease phenotypes: MIM:213300, MIM:249000, MIM:611560, MIM:611561, MIM:619113, MIM:216360, MIM:256100, MIM:209900, MIM:204000

GenCC curated gene-disease

Disease	Classification	Inheritance
Meckel syndrome, type 5	Definitive	Autosomal recessive
Joubert syndrome 7	Strong	Autosomal recessive
ciliopathy	Strong	Autosomal recessive
COACH syndrome 1	Supportive	Autosomal recessive
Joubert syndrome with renal defect	Supportive	Autosomal recessive
Meckel syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliopathy	Definitive	AR

Mondo (18): Joubert syndrome (MONDO:0018772), Meckel syndrome (MONDO:0018921), Joubert syndrome 7 (MONDO:0012694), Meckel syndrome, type 5 (MONDO:0012695), COACH syndrome 3 (MONDO:0030862), COACH syndrome 1 (MONDO:0800103), Joubert syndrome and related disorders (MONDO:0015369), nephronophthisis (MONDO:0019005), focal segmental glomerulosclerosis (MONDO:0100313), kidney disorder (MONDO:0005240), optic atrophy (MONDO:0003608), Bardet-Biedl syndrome (MONDO:0015229), Leber congenital amaurosis (MONDO:0018998), inherited retinal dystrophy (MONDO:0019118), ciliopathy (MONDO:0005308)

Orphanet (10): Isolated Joubert syndrome (Orphanet:475), Meckel syndrome (Orphanet:564), Joubert syndrome with renal defect (Orphanet:220497), Joubert syndrome with hepatic defect (Orphanet:1454), Joubert syndrome and related disorders (Orphanet:140874), Nephronophthisis (Orphanet:655), Bardet-Biedl syndrome (Orphanet:110), Leber congenital amaurosis (Orphanet:65), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Ciliopathy (Orphanet:363250)

HPO phenotypes

121 total (30 of 121 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000037	Male pseudohermaphroditism
HP:0000062	Ambiguous genitalia
HP:0000068	Urethral atresia
HP:0000073	Ureteral duplication
HP:0000083	Renal insufficiency
HP:0000090	Nephronophthisis
HP:0000092	Renal tubular atrophy
HP:0000107	Renal cyst
HP:0000112	Nephropathy
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000204	Cleft upper lip
HP:0000221	Furrowed tongue
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000276	Long face
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000426	Prominent nasal bridge
HP:0000457	Depressed nasal ridge
HP:0000463	Anteverted nares

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000961_23	Bipolar disorder	2.000000e-06
GCST001992_1	Vitiligo (non-segmental)	6.000000e-11
GCST003476_1	Eyebrow thickness	3.000000e-06
GCST004766_20	Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes	2.000000e-07
GCST006190_40	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	2.000000e-10
GCST006190_66	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-08
GCST006192_13	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	4.000000e-20
GCST006192_27	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-13
GCST006193_23	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-11
GCST006193_64	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	6.000000e-09
GCST006195_5	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	6.000000e-14
GCST006195_53	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	1.000000e-20
GCST008129_87	Body mass index	5.000000e-11
GCST008152_151	Weight	6.000000e-06
GCST008369_24	Plasma anti-thyroglobulin levels	5.000000e-06
GCST009371_9	Bipolar disorder or body mass index	6.000000e-09
GCST009464_2	Facial morphology	7.000000e-09
GCST009464_21	Facial morphology	4.000000e-08
GCST009464_3	Facial morphology	3.000000e-09
GCST90011900_125	Serum alkaline phosphatase levels	8.000000e-11
GCST90016670_7	Kidney volume	2.000000e-09
GCST90016671_5	Visceral adipose tissue volume	3.000000e-08
GCST90016672_1	Abdominal subcutaneous adipose tissue volume	2.000000e-21

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007681	triglyceride change measurement
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure
EFO:0004340	body mass index
EFO:0004338	body weight
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (10)

Descriptor	Name	Tree numbers
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
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
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
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
C566916	Joubert Syndrome 7 (supp.)
C536296	Joubert syndrome 4 (supp.)
C566915	Meckel Syndrome, Type 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	3
Air Pollutants	affects cotreatment, increases abundance, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	affects expression, decreases expression	2
Cyclosporine	affects expression, decreases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
bisphenol A	decreases methylation	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Doxorubicin	decreases expression	1
Latex	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ouabain	decreases expression	1
Ozone	increases expression, increases abundance, affects cotreatment	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01129557	PHASE4	TERMINATED	Aldosterone Breakthrough During Diovan, Tekturna, and Combination Therapy in Patients With Proteinuric Kidney Disease
NCT02399462	PHASE4	WITHDRAWN	Acthar for Treatment of Post-transplant FSGS
NCT02585804	PHASE4	COMPLETED	Treating to Reduce Albuminuria and Normalize Hemodynamic Function in Focal ScLerosis With dApagliflozin Trial Effects
NCT02633046	PHASE4	COMPLETED	Acthar for Treatment-Resistant or Treatment-Intolerant Proteinuria
NCT07219121	PHASE4	RECRUITING	Sparsentan in Posttransplant Immunoglobulin A Nephropathy or Focal Segmental Glomerulosclerosis
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
NCT02311010	PHASE4	UNKNOWN	Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism
NCT02413073	PHASE4	COMPLETED	Whole Body Vibration in Kidney Disease