PRPF8

Summary

PRPF8 (pre-mRNA processing factor 8, HGNC:17340) is a protein-coding gene on chromosome 17p13.3, encoding Pre-mRNA-processing-splicing factor 8 (Q6P2Q9). Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa.

Source: NCBI Gene 10594 — RefSeq curated summary.

At a glance

• Gene–disease (curated): PRPF8-related retinopathy (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 3
• Clinical variants (ClinVar): 1,714 total — 35 pathogenic, 32 likely-pathogenic
• Phenotypes (HPO): 41
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_006445

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17340
Approved symbol	PRPF8
Name	pre-mRNA processing factor 8
Location	17p13.3
Locus type	gene with protein product
Status	Approved
Aliases	PRPC8, Prp8, hPrp8, SNRNP220
Ensembl gene	ENSG00000174231
Ensembl biotype	protein_coding
OMIM	607300
Entrez	10594

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 11 protein_coding, 10 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000304992, ENST00000571346, ENST00000571958, ENST00000572445, ENST00000572621, ENST00000572723, ENST00000573681, ENST00000573716, ENST00000573725, ENST00000574217, ENST00000574728, ENST00000575116, ENST00000576407, ENST00000576585, ENST00000576958, ENST00000577001, ENST00000703537, ENST00000703538, ENST00000703539, ENST00000703540, ENST00000703541, ENST00000703542, ENST00000883259, ENST00000912855, ENST00000912856

RefSeq mRNA: 1 — MANE Select: NM_006445 NM_006445

CCDS: CCDS11010

Canonical transcript exons

ENST00000304992 — 43 exons

Exon	Start	End
ENSE00001198748	1656392	1656565
ENSE00001198752	1656648	1656761
ENSE00001198758	1658253	1658381
ENSE00001198762	1658526	1658763
ENSE00001198772	1659841	1660001
ENSE00001302461	1659357	1659548
ENSE00001797498	1650629	1650956
ENSE00002329202	1673357	1673567
ENSE00002343121	1681820	1682038
ENSE00002345080	1675620	1675812
ENSE00002345081	1677565	1677694
ENSE00002346874	1679609	1679799
ENSE00002352713	1676207	1676370
ENSE00002354858	1682129	1682293
ENSE00002356959	1661611	1661790
ENSE00002358051	1680929	1681054
ENSE00002362846	1680726	1680831
ENSE00002367958	1651648	1651788
ENSE00002368687	1683533	1683701
ENSE00002370172	1675152	1675339
ENSE00002372767	1675928	1676054
ENSE00002379482	1673081	1673197
ENSE00002387458	1653777	1654016
ENSE00002387594	1673746	1673892
ENSE00002390082	1676976	1677172
ENSE00002393983	1674442	1674680
ENSE00002394950	1678518	1678652
ENSE00002397749	1661271	1661406
ENSE00002408067	1681478	1681690
ENSE00002411453	1679291	1679410
ENSE00002426002	1661906	1662153
ENSE00002648605	1684780	1684867
ENSE00002721417	1655350	1655543
ENSE00003508630	1653542	1653683
ENSE00003537012	1684472	1684582
ENSE00003540562	1676505	1676711
ENSE00003552536	1651108	1651310
ENSE00003580276	1678762	1678881
ENSE00003628467	1679017	1679206
ENSE00003630832	1660993	1661162
ENSE00003663378	1651414	1651553
ENSE00003669219	1660432	1660578
ENSE00003693476	1660698	1660827

Expression profiles

Bgee: expression breadth ubiquitous, 145 present calls, max score 99.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.9428 / max 387.5476, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
163772	65.0902	1823
163771	0.9731	551
163770	0.8736	535
163768	0.0059	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adenohypophysis	UBERON:0002196	99.01	gold quality
pituitary gland	UBERON:0000007	98.99	gold quality
ventricular zone	UBERON:0003053	98.92	gold quality
bone marrow cell	CL:0002092	98.70	gold quality
embryo	UBERON:0000922	98.65	gold quality
ganglionic eminence	UBERON:0004023	98.65	gold quality
left ovary	UBERON:0002119	98.59	gold quality
right ovary	UBERON:0002118	98.57	gold quality
ovary	UBERON:0000992	98.53	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.53	gold quality
colonic epithelium	UBERON:0000397	98.45	gold quality
cerebellum	UBERON:0002037	98.45	gold quality
cerebellar cortex	UBERON:0002129	98.44	gold quality
cerebellar hemisphere	UBERON:0002245	98.44	gold quality
right lobe of thyroid gland	UBERON:0001119	98.41	gold quality
cortical plate	UBERON:0005343	98.40	gold quality
left testis	UBERON:0004533	98.39	gold quality
bone element	UBERON:0001474	98.34	gold quality
bone marrow	UBERON:0002371	98.34	gold quality
primary visual cortex	UBERON:0002436	98.26	gold quality
right testis	UBERON:0004534	98.26	gold quality
apex of heart	UBERON:0002098	98.24	gold quality
spleen	UBERON:0002106	98.24	gold quality
prostate gland	UBERON:0002367	98.24	gold quality
left lobe of thyroid gland	UBERON:0001120	98.23	gold quality
testis	UBERON:0000473	98.21	gold quality
endocervix	UBERON:0000458	98.20	gold quality
thyroid gland	UBERON:0002046	98.20	gold quality
body of uterus	UBERON:0009853	98.20	gold quality
nerve	UBERON:0001021	98.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting PRPF8, 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-4795-3P	100.00	74.62	4024
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-1324	99.46	66.57	1302
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-7107-5P	86.70	59.28	110
HSA-MIR-1234-3P	86.70	58.45	109

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 36)

• Mutations in PRPC8 is associated with autosomal dominant retinitis pigmentosa (PMID:11910553)
• mutations revealed a novel insertion and deletion in the last exon of a splicing factor gene, PRPF8. (PMID:12601059)
• Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. (PMID:12714658)
• The gene for apoptosis regulated protein 2 (ARP2) overexpressed in apoptosis induced prostate cancer cell line LNCaP was cloned. (PMID:15786732)
• The PRPF8 gene mutation is associated with a mild phenotype in which cone function is partially preserved. (PMID:17061239)
• The expanded Prp8 Jab1/MPN domain represents a pseudoenzyme converted into a protein-protein interaction platform and that dysfunction of this platform underlies Retinitis pigmentosa. (PMID:17317632)
• The severe form of autosomal dominant retinitis pigmentosa (adRP) was caused by the PRPF8 H2309R variant, whereas the IVS41-4G–>A variant was benign. (PMID:18695108)
• Crystal structures of corresponding portions of yeast and human Prp8 that interact with functional regions of the pre-mRNA were determined, revealing a phylogenetically conserved RNase H fold, augmented by Prp8-specific elements. (PMID:18843295)
• The aim of this study was to use lymphoblast cell lines derived from retinitis pigmentosa patients to determine whether mutations in two of these splicing factors, PRPF8 and PRPF31, cause measurable deficiencies in pre-mRNA splicing. (PMID:19096719)
• Data screened retinitis pigmentosa patients for PRPF8 mutations and identified three new missense mutations, including the first documented mutation outside exon 42 and the first de novo mutation. (PMID:20232351)
• RP-PRPF defects affect the stoichiometry of spliceosomal small nuclear RNAs. Depleting PRPF8 in human cell lines alters alternative splicing. (PMID:21378395)
• This is the first report of marked intrafamilial variability associated with mutations in the PRPF8 gene, including incomplete penetrance. PRPF8 mutations should be suspected in patients with autosomal dominant retinitis pigmentosa. (PMID:22039234)
• these data show how a Ski2-like RNA helicase Brr2 can be reversibly inhibited by a protein cofactor Prp8 that directly competes with RNA substrate binding. (PMID:23704370)
• In the cytoplasm, Prp8 forms a precursor complex with U5 snRNA (PMID:23727230)
• Data suggest Enterovirus 3DPol (RNA-dependent RNA polymerase) enters nucleus via nuclear localization signal, targets pre-mRNA processing factor 8 (Prp8) to block pre-mRNA splicing/mRNA synthesis, and shuts off cellular transcription/translation. (PMID:24968230)
• A mutation in a splicing factor PRPF8 that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing. (PMID:24969741)
• Most importantly between Prp8 and nucleotides at the exon-intron junction. (PMID:26385511)
• Our findings exemplify the regulatory potential of changes in the core spliceosome machinery, which may be relevant to slow-onset human genetic diseases linked to PRPF8 deficiency (PMID:26392272)
• We show that PRP31, a component of U4 snRNP, is modified with K63-linked ubiquitin chains by the PRP19 complex and deubiquitinated by USP15 and its substrate targeting factor SART3. USP15SART3 makes a complex with USP4 and this ternary complex serves as a platform to deubiquitinate PRP31 and PRP3 (PMID:28088760)
• influenza A virus upregulates cellular PRPF8 gene expression through viral NS1 protein and influenza virus polymerase basic protein 1 to increase virus production. (PMID:28110426)
• HSP90/R2TP chaperone system promotes the assembly of a key module of U5 snRNP while assuring the quality control of PRPF8. The proteomics data further reveal new interactions between R2TP and the tuberous sclerosis complex, pointing to a potential link between growth signals and the assembly of key cellular machines. (PMID:28515276)
• a pathogenic variant (p.Val956Gly) in the PRPF8 gene, which segregates with glaucoma in Dutch family, is reported. (PMID:28707069)
• Multiple genes contributing to the retinal dystrophy genotypes within a family were discovered using retinal gene-targeted next-generation sequencing. Families with noted examples of phenotypic variation or apparent non-penetrant individuals may offer a clue to suspect complex inheritance. (PMID:28761320)
• Frame-shift mutations and nonconservative amino acid changes in PRPF8 typically cause severe clinical phenotypes. The conservative missense variant p.PRPF8-Arg2310Lys that is not altering the global charge of the C-terminal tail, and variants located at the basis of the C-terminal tail show milder clinical phenotypes, in accordance with functional data on PRPF8/SNRNP200 interactions in yeast. (PMID:29087248)
• Knockdown of PRPF8 significantly impairs mitophagosome formation and subsequent mitochondrial clearance through the aberrant mRNA splicing of ULK1, which mediates macroautophagy/autophagy initiation. (PMID:30103670)
• Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa. (PMID:30360737)
• How Is Precursor Messenger RNA Spliced by the Spliceosome? (PMID:31815536)
• The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit. (PMID:31914407)
• circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis. (PMID:32690086)
• The role of splicing factor PRPF8 in breast cancer. (PMID:35124606)
• Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. (PMID:35543142)
• Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8. (PMID:36322420)
• PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing. (PMID:36609600)
• PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs. (PMID:37357506)
• PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5 -splice-site selection causing tissue-specific defects. (PMID:38605034)
• Reporting a Homozygous Case of Neurodevelopmental Disorder Associated With a Novel PRPF8 Variant. (PMID:40066647)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	prpf8	ENSDARG00000026180
mus_musculus	Prpf8	ENSMUSG00000020850
rattus_norvegicus	Prpf8	ENSRNOG00000003495
drosophila_melanogaster	Prp8	FBGN0033688
caenorhabditis_elegans		WBGENE00004187

Protein

Protein identifiers

Pre-mRNA-processing-splicing factor 8 — Q6P2Q9 (reviewed: Q6P2Q9)

Alternative names: 220 kDa U5 snRNP-specific protein, PRP8 homolog, Splicing factor Prp8, p220

All UniProt accessions (8): Q6P2Q9, A0A994J3N2, A0A994J491, A0A994J6E8, A0A994J6S8, I3L0J9, I3L1T8, I3L3Z8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as a scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5’ and the 3’ splice site.

Subunit / interactions. Part of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes. Within the minor spliceosome, which acts on U12-type introns, interacts with PPIL2 and RBM48. Core component of U2-type precatalytic, catalytic and postcatalytic spliceosomal complexes. Found in a mRNA splicing-dependent exon junction complex (EJC) with SRRM1. Interacts with U5 snRNP proteins SNRP116 and SNRNP40. Interacts with EFTUD2. Interacts (via the MPN (JAB/Mov34) domain) with PRPF3 (‘Lys-63’-linked polyubiquitinated); may stabilize the U4/U6-U5 tri-snRNP complex. Interacts (via RNase H homology domain) with AAR2. Interacts with RPAP3 and URI1 in a ZNHIT2-dependent manner. Interacts with C9orf78. Interacts with SNRNP200; the interaction is direct. Interacts with TSSC4; the interaction is direct.

Subcellular location. Nucleus. Nucleus speckle.

Tissue specificity. Widely expressed.

Disease relevance. Retinitis pigmentosa 13 (RP13) [MIM:600059] A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The MPN (JAB/Mov34) domain mediates interaction with TSSC4 and SNRNP200. Has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion. Contains a region with structural similarity to reverse transcriptase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal-binding residues are not conserved. Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure. Contains a region with structural similarity to RNase H, but lacks RNase H activity.

RefSeq proteins (1): NP_006436* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000555	JAMM/MPN+_dom	Domain
IPR012337	RNaseH-like_sf	Homologous_superfamily
IPR012591	PRO8NT	Domain
IPR012592	PROCN	Domain
IPR012984	PROCT	Domain
IPR019580	Prp8_U6-snRNA-bd	Domain
IPR019581	Prp8_U5-snRNA-bd	Domain
IPR019582	RRM_spliceosomal_PrP8	Domain
IPR021983	PRP8_domainIV	Domain
IPR027652	PRP8	Family
IPR037518	MPN	Domain
IPR042516	Prp8_U5-snRNA-bd_sf	Homologous_superfamily
IPR043172	Prp8_domainIV_palm	Homologous_superfamily
IPR043173	Prp8_domainIV_fingers	Homologous_superfamily

Pfam: PF01398, PF08082, PF08083, PF08084, PF10596, PF10597, PF10598, PF12134

UniProt features (281 total): helix 104, strand 101, turn 40, sequence variant 12, sequence conflict 7, region of interest 7, modified residue 5, mutagenesis site 2, initiator methionine 1, chain 1, domain 1

Structure

Experimental structures (PDB)

101 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
4JK8	X-RAY DIFFRACTION	1.15
4JKB	X-RAY DIFFRACTION	1.3
4JKA	X-RAY DIFFRACTION	1.32
4JK7	X-RAY DIFFRACTION	1.4
4JK9	X-RAY DIFFRACTION	1.5
4JKC	X-RAY DIFFRACTION	1.5
4JKD	X-RAY DIFFRACTION	1.55
4JKE	X-RAY DIFFRACTION	1.65
4JKG	X-RAY DIFFRACTION	1.8
4JKH	X-RAY DIFFRACTION	1.8
3ENB	X-RAY DIFFRACTION	1.85
3LRU	X-RAY DIFFRACTION	1.85
3E9L	X-RAY DIFFRACTION	1.95
4JKF	X-RAY DIFFRACTION	1.95
8BCE	X-RAY DIFFRACTION	2.05
8BC9	X-RAY DIFFRACTION	2.3
7PJH	X-RAY DIFFRACTION	2.35
8BCC	X-RAY DIFFRACTION	2.35
8BCB	X-RAY DIFFRACTION	2.38
8BC8	X-RAY DIFFRACTION	2.39
8BCG	X-RAY DIFFRACTION	2.39
6S8Q	X-RAY DIFFRACTION	2.39
8BCF	X-RAY DIFFRACTION	2.42
7BDK	X-RAY DIFFRACTION	2.52
7BDJ	X-RAY DIFFRACTION	2.59
6S9I	X-RAY DIFFRACTION	2.6
8H6L	ELECTRON MICROSCOPY	2.6
7BDL	X-RAY DIFFRACTION	2.69
8H6K	ELECTRON MICROSCOPY	2.7
7OS2	ELECTRON MICROSCOPY	2.76

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P2Q9-F1	85.20	0.44

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (5): 2, 859, 1358, 1425, 1463

Mutagenesis-validated functional residues (2):

Position	Phenotype
1788	strongly reduced interaction with rna.
1789	strongly reduced interaction with rna.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72165	mRNA Splicing - Minor Pathway
R-HSA-9918481	Dengue Virus-Host Interactions

MSigDB gene sets: 286 (showing top): MORF_DNMT1, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MORF_SNRP70, MORF_UBE2I, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, MORF_HDAC1, MORF_CDK2, MITSIADES_RESPONSE_TO_APLIDIN_DN, MORF_HDAC2, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, MODULE_388, MORF_TERF1

GO Biological Process (7): spliceosomal tri-snRNP complex assembly (GO:0000244), RNA splicing, via transesterification reactions (GO:0000375), mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), RNA splicing (GO:0008380), cellular response to lipopolysaccharide (GO:0071222), cellular response to tumor necrosis factor (GO:0071356)

GO Molecular Function (10): RNA binding (GO:0003723), U6 snRNA binding (GO:0017070), U1 snRNA binding (GO:0030619), U2 snRNA binding (GO:0030620), U5 snRNA binding (GO:0030623), K63-linked polyubiquitin modification-dependent protein binding (GO:0070530), pre-mRNA intronic binding (GO:0097157), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237)

GO Cellular Component (13): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U5 snRNP (GO:0005682), membrane (GO:0016020), nuclear speck (GO:0016607), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 1 spliceosome (GO:0071006), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), small nuclear ribonucleoprotein complex (GO:0030532), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
mRNA Splicing	2
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
snRNA binding	4
U2-type spliceosomal complex	3
U2 snRNP	3
RNA processing	2
cellular anatomical structure	2
nuclear protein-containing complex	2
ribonucleoprotein complex	2
U5 snRNP	2
U6 snRNP	2
spliceosomal snRNP assembly	1
RNA splicing	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
mRNA metabolic process	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
response to tumor necrosis factor	1
cellular response to cytokine stimulus	1
nucleic acid binding	1
polyubiquitin modification-dependent protein binding	1
pre-mRNA binding	1
binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
spliceosomal snRNP complex	1
nuclear ribonucleoprotein granule	1
U4/U6 snRNP	1
spliceosomal tri-snRNP complex	1
U1 snRNP	1
U4/U6 x U5 tri-snRNP complex	1
precatalytic spliceosome	1
catalytic step 1 spliceosome	1
catalytic step 2 spliceosome	1
Prp19 complex	1
spliceosomal complex	1

Protein interactions and networks

STRING

4008 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRPF8	PRPF3	O43395	990
PRPF8	SNRNP200	O75643	986
PRPF8	PRPF31	Q8WWY3	982
PRPF8	EFTUD2	Q15029	970
PRPF8	SNRNP40	Q96DI7	947
PRPF8	PRPF6	O94906	931
PRPF8	PRPF4	O43172	926
PRPF8	RP9	Q8TA86	862
PRPF8	AAR2	Q9Y312	814
PRPF8	FSCN2	O14926	802
PRPF8	IMPDH1	P20839	793
PRPF8	TOPORS	Q9NS56	790
PRPF8	SART1	O43290	772
PRPF8	RPGR	Q92834	746
PRPF8	CERKL	Q49MI3	742

IntAct

318 interactions, top by confidence:

A	B	Type	Score
EFTUD2	PRPF8	psi-mi:“MI:0915”(physical association)	0.900
PRPF8	EFTUD2	psi-mi:“MI:0915”(physical association)	0.900
SNRNP40	PRPF8	psi-mi:“MI:0915”(physical association)	0.860
PRPF8	PRPF6	psi-mi:“MI:0915”(physical association)	0.830
PRPF6	PRPF8	psi-mi:“MI:0915”(physical association)	0.830
ECD	PRPF8	psi-mi:“MI:0914”(association)	0.820
ECD	PRPF8	psi-mi:“MI:0915”(physical association)	0.820
PRPF6	SNRNP200	psi-mi:“MI:0914”(association)	0.770
DDX21	HNRNPC	psi-mi:“MI:0915”(physical association)	0.750
SNRNP200	PRPF8	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SNRPD2	GEMIN2	psi-mi:“MI:0914”(association)	0.710
UBL5	SART1	psi-mi:“MI:0914”(association)	0.670
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
GCFC2	SNRNP200	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640

BioGRID (1256): PRPF8 (Two-hybrid), PRPF8 (Two-hybrid), PRPF8 (Two-hybrid), PRPF8 (Affinity Capture-RNA), PRPF8 (Affinity Capture-RNA), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), PRPF8 (Biochemical Activity), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS), PRPF8 (Affinity Capture-MS)

ESM2 similar proteins: O14187, O43427, P0C760, P12798, P22168, P27176, P27314, P27552, P28897, P33334, P33453, P33802, P34369, P36791, P46018, Q20932, Q21733, Q3KSM3, Q3ZN06, Q4TWH8, Q5K6N0, Q66624, Q68FR5, Q6BER5, Q6P2Q9, Q75D88, Q7TSH2, Q806Y6, Q80930, Q82630, Q89709, Q8BRG8, Q8RWS4, Q8T295, Q93100, Q96SK2, Q99PV0, Q9CQA8, Q9D518, Q9E005

Diamond homologs: O14187, P33334, P34369, Q6P2Q9, Q8T295, Q99PV0, Q9SSD2, Q9T0I6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRPF8	“form complex”	“U4/U6.U5 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 208 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
Metabolism of non-coding RNA	7	30.0×	2e-07
mRNA Splicing - Minor Pathway	13	19.7×	7e-12
mRNA Splicing - Major Pathway	47	17.4×	2e-43
mRNA Splicing	22	16.3×	1e-18
RHOBTB2 GTPase cycle	5	16.1×	6e-04
Processing of Capped Intron-Containing Pre-mRNA	26	14.4×	1e-20
mRNA Polyadenylation	22	13.1×	2e-16
mRNA 3’-end processing	9	12.0×	5e-06

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal complex assembly	12	40.8×	1e-14
spliceosomal snRNP assembly	10	32.8×	7e-11
spliceosomal tri-snRNP complex assembly	5	31.7×	5e-05
U2-type prespliceosome assembly	8	28.2×	5e-08
mRNA cis splicing, via spliceosome	5	28.0×	9e-05
RNA splicing, via transesterification reactions	7	24.7×	2e-06
mRNA splicing, via spliceosome	46	23.8×	5e-48
mRNA export from nucleus	9	15.0×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

1714 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	35
Likely pathogenic	32
Uncertain significance	658
Likely benign	798
Benign	58

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1001079	NM_006445.4(PRPF8):c.6941T>C (p.Phe2314Ser)	Pathogenic
1010385	NM_006445.4(PRPF8):c.4780_4784del (p.Cys1594fs)	Pathogenic
1044357	NM_006445.4(PRPF8):c.2665_2668del (p.Arg889fs)	Pathogenic
1066428	NM_006445.4(PRPF8):c.6942C>G (p.Phe2314Leu)	Pathogenic
1066917	NM_006445.4(PRPF8):c.7007G>C (p.Ter2336Ser)	Pathogenic
1309620	NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His)	Pathogenic
1346521	NM_006445.4(PRPF8):c.6986_6990dup (p.Glu2331fs)	Pathogenic
1386059	NM_006445.4(PRPF8):c.3353del (p.Pro1118fs)	Pathogenic
1403977	NM_006445.4(PRPF8):c.434+1dup	Pathogenic
1477669	NM_006445.4(PRPF8):c.3039del (p.Asn1013fs)	Pathogenic
1944453	NM_006445.4(PRPF8):c.1948C>T (p.Arg650Ter)	Pathogenic
2089649	NM_006445.4(PRPF8):c.6912C>A (p.Phe2304Leu)	Pathogenic
2095424	NM_006445.4(PRPF8):c.2313_2316del (p.Cys772fs)	Pathogenic
2106271	NM_006445.4(PRPF8):c.6473_6474del (p.His2158fs)	Pathogenic
2112601	NM_006445.4(PRPF8):c.4428_4429del (p.Gln1476fs)	Pathogenic
2152269	NM_006445.4(PRPF8):c.6930G>T (p.Arg2310Ser)	Pathogenic
2736782	NM_006445.4(PRPF8):c.1777C>T (p.Arg593Ter)	Pathogenic
2746009	NM_006445.4(PRPF8):c.6956_6957dup (p.Leu2320fs)	Pathogenic
2809543	NM_006445.4(PRPF8):c.6172_6283del112 (p.Asn2061fs)	Pathogenic
2838967	NM_006445.4(PRPF8):c.6946_6947dup (p.Asn2316fs)	Pathogenic
2851871	NM_006445.4(PRPF8):c.1994C>A (p.Ser665Ter)	Pathogenic
30666	NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe)	Pathogenic
3243179	NC_000017.10:g.(?1516489)(1565447_?)del	Pathogenic
3355	NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg)	Pathogenic
3357	NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys)	Pathogenic
3656195	NM_006445.4(PRPF8):c.6954_6957dup (p.Leu2320fs)	Pathogenic
3684587	NM_006445.4(PRPF8):c.4630C>T (p.Arg1544Ter)	Pathogenic
451688	NM_006445.4(PRPF8):c.5353G>A (p.Val1785Ile)	Pathogenic
4715217	NM_006445.4(PRPF8):c.5783C>A (p.Ser1928Ter)	Pathogenic
524045	NM_006445.4(PRPF8):c.6379dup (p.Tyr2127fs)	Pathogenic

SpliceAI

5505 predictions. Top by Δscore:

Variant	Effect	Δscore
17:1650954:CAC:C	acceptor_gain	1.0000
17:1650955:ACC:A	acceptor_loss	1.0000
17:1651103:CTTA:C	donor_loss	1.0000
17:1651104:TTACC:T	donor_loss	1.0000
17:1651105:TACCC:T	donor_loss	1.0000
17:1651106:A:AC	donor_gain	1.0000
17:1651106:A:C	donor_loss	1.0000
17:1651106:AC:A	donor_gain	1.0000
17:1651106:ACC:A	donor_gain	1.0000
17:1651107:C:CA	donor_gain	1.0000
17:1651107:CC:C	donor_gain	1.0000
17:1651107:CCC:C	donor_gain	1.0000
17:1651107:CCCA:C	donor_gain	1.0000
17:1651107:CCCAT:C	donor_gain	1.0000
17:1651306:TGAAG:T	acceptor_gain	1.0000
17:1651307:GAAG:G	acceptor_gain	1.0000
17:1651308:AAG:A	acceptor_gain	1.0000
17:1651309:AG:A	acceptor_gain	1.0000
17:1651311:C:CC	acceptor_gain	1.0000
17:1651323:C:CT	acceptor_gain	1.0000
17:1651324:G:T	acceptor_gain	1.0000
17:1651411:CA:C	donor_loss	1.0000
17:1651412:ACCT:A	donor_loss	1.0000
17:1651413:CCTG:C	donor_gain	1.0000
17:1651416:G:A	donor_gain	1.0000
17:1651549:ATCTC:A	acceptor_gain	1.0000
17:1651551:CTC:C	acceptor_gain	1.0000
17:1651552:TC:T	acceptor_gain	1.0000
17:1651553:CC:C	acceptor_gain	1.0000
17:1651554:C:CA	acceptor_loss	1.0000

AlphaMissense

15459 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:1650880:C:A	R2310S	1.000
17:1650880:C:G	R2310S	1.000
17:1650881:C:A	R2310M	1.000
17:1650881:C:G	R2310T	1.000
17:1651121:G:C	N2280K	1.000
17:1651121:G:T	N2280K	1.000
17:1651126:A:G	W2279R	1.000
17:1651126:A:T	W2279R	1.000
17:1651769:C:T	G2130E	1.000
17:1653785:C:A	W2073C	1.000
17:1653785:C:G	W2073C	1.000
17:1653787:A:G	W2073R	1.000
17:1653787:A:T	W2073R	1.000
17:1653925:C:G	A2027P	1.000
17:1653966:C:A	G2013V	1.000
17:1653966:C:T	G2013D	1.000
17:1653967:C:G	G2013R	1.000
17:1653969:A:G	L2012P	1.000
17:1653978:T:A	D2009V	1.000
17:1653979:C:G	D2009H	1.000
17:1653981:C:G	R2008P	1.000
17:1653987:T:A	E2006V	1.000
17:1653988:C:T	E2006K	1.000
17:1653999:A:G	L2002P	1.000
17:1653999:A:T	L2002Q	1.000
17:1655389:A:G	L1983P	1.000
17:1655411:A:G	W1976R	1.000
17:1655411:A:T	W1976R	1.000
17:1655435:A:G	W1968R	1.000
17:1655435:A:T	W1968R	1.000

dbSNP variants (sampled 300 via entrez): RS1000025289 (17:1657526 G>A,T), RS1000036572 (17:1657383 A>C), RS1000223555 (17:1686168 G>A), RS1000284703 (17:1681393 T>A,C,G), RS1000351666 (17:1663485 G>A), RS1000436113 (17:1654962 T>A,C,G), RS1000478752 (17:1683800 A>C,G), RS1000509697 (17:1672040 A>C), RS1000513873 (17:1685460 C>A), RS1000609461 (17:1678126 C>G), RS1000624064 (17:1680174 G>T), RS1000724759 (17:1667226 C>A,G), RS1000777195 (17:1667104 CGG>C), RS1000788308 (17:1684997 G>C,T), RS1000847556 (17:1686020 G>A,T)

Disease associations

OMIM: gene MIM:607300 | disease phenotypes: MIM:600059, MIM:268000, MIM:303100, MIM:604229, MIM:600132

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 13	Definitive	Autosomal dominant
neurodevelopmental disorder	Strong	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant
glaucoma	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
PRPF8-related retinopathy	Definitive	AD

Mondo (9): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 13 (MONDO:0010806), retinitis pigmentosa (MONDO:0019200), choroideremia (MONDO:0010557), Peters anomaly (MONDO:0011414), retinal disorder (MONDO:0005283), neurodevelopmental disorder (MONDO:0700092), retinitis pigmentosa 14 (MONDO:0010827), glaucoma (MONDO:0005041)

Orphanet (4): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Choroideremia (Orphanet:180), Peters anomaly (Orphanet:708)

HPO phenotypes

41 total (30 of 41 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000405	Conductive hearing impairment
HP:0000407	Sensorineural hearing impairment
HP:0000501	Glaucoma
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000523	Subcapsular cataract
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0003621	Juvenile onset
HP:0003829	Typified by incomplete penetrance
HP:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007787	Posterior subcapsular cataract
HP:0007843	Attenuation of retinal blood vessels
HP:0007994	Peripheral visual field loss

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST000769_6	Calcium levels	7.000000e-07
GCST90002385_86	High light scatter reticulocyte count	5.000000e-12
GCST90002386_299	High light scatter reticulocyte percentage of red cells	2.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004838	calcium measurement
EFO:0007986	reticulocyte count

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D015794	Choroideremia	C11.270.142; C11.941.160.300; C16.320.290.142; C16.320.322.092
D005901	Glaucoma	C11.525.381
D065886	Neurodevelopmental Disorders	F03.625
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
C537884	Peters anomaly (supp.)
C564008	Retinitis Pigmentosa 13 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725162 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 6 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.29	Kd	51	nM	MOLIBRESIB
7.05	IC50	90	nM	MOLIBRESIB
6.26	Kd	552.8	nM	CHEMBL5653589
6.26	ED50	552.8	nM	CHEMBL5653589

PubChem BioAssay actives

3 with measured affinity, of 11 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179084: Binding affinity against PRPF8 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0510	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149093: Binding affinity to human PRPF8 incubated for 45 mins by Kinobead based pull down assay	kd	0.5527	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, decreases expression	3
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, decreases reaction	1
16 alpha-ethyl-21-hydroxy-19-nor-4-pregnene-3,20-dione	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	increases expression, affects cotreatment	1
Vehicle Emissions	increases abundance, increases expression	1
Benzene	increases expression	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Niclosamide	decreases expression	1
Ribonucleotides	affects binding	1
Selenium	increases expression	1
Dronabinol	increases expression	1
Thiram	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652135	Binding	Binding affinity to human PRPF8 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_QX62	RCPFi001-A	Induced pluripotent stem cell	Female
CVCL_ZX46	CSUASOi006-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00100230	PHASE2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	PHASE2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	PHASE2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	PHASE2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	PHASE2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	PHASE2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	PHASE2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	PHASE2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	PHASE2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	PHASE2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04356716	PHASE2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	PHASE2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	PHASE2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	PHASE2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]