SNRNP200

Summary

SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200, HGNC:30859) is a protein-coding gene on chromosome 2q11.2, encoding U5 small nuclear ribonucleoprotein 200 kDa helicase (O75643). Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined.

Source: NCBI Gene 23020 — RefSeq curated summary.

At a glance

• Gene–disease (curated): SNRNP200-related dominant retinopathy (Definitive, ClinGen) — +2 more curated relationships
• Clinical variants (ClinVar): 1,407 total — 5 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 34
• Druggable target: yes — 2 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_014014

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30859
Approved symbol	SNRNP200
Name	small nuclear ribonucleoprotein U5 subunit 200
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	U5-200KD, HELIC2, KIAA0788, Brr2
Ensembl gene	ENSG00000144028
Ensembl biotype	protein_coding
OMIM	601664
Entrez	23020

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 retained_intron, 6 protein_coding

ENST00000323853, ENST00000429650, ENST00000480242, ENST00000480615, ENST00000480835, ENST00000484372, ENST00000493271, ENST00000497539, ENST00000652267, ENST00000880043, ENST00000914240, ENST00000960226, ENST00000960227

RefSeq mRNA: 1 — MANE Select: NM_014014 NM_014014

CCDS: CCDS2020

Canonical transcript exons

ENST00000323853 — 45 exons

Exon	Start	End
ENSE00000963239	96298815	96298967
ENSE00000963279	96297637	96297720
ENSE00000963280	96297363	96297536
ENSE00000963281	96296933	96297070
ENSE00000963282	96296536	96296691
ENSE00000963283	96295488	96295658
ENSE00000963284	96293316	96293509
ENSE00000963285	96292972	96293095
ENSE00000963286	96291751	96291900
ENSE00000963287	96291392	96291502
ENSE00000963288	96290684	96290815
ENSE00000963289	96290326	96290514
ENSE00000963290	96289799	96289996
ENSE00001071817	96299329	96299427
ENSE00001071823	96300998	96301053
ENSE00001071827	96301524	96301716
ENSE00001284629	96303159	96303330
ENSE00001284634	96304705	96304868
ENSE00001322562	96298284	96298420
ENSE00001859556	96305393	96305546
ENSE00001901401	96274338	96275155
ENSE00002439244	96285180	96285340
ENSE00002467346	96284358	96284585
ENSE00002468537	96298603	96298702
ENSE00003466354	96278237	96278358
ENSE00003469639	96283813	96284004
ENSE00003483346	96281814	96281922
ENSE00003485694	96276904	96276985
ENSE00003495027	96287863	96287969
ENSE00003496981	96287006	96287160
ENSE00003521006	96275257	96275349
ENSE00003523416	96277807	96277950
ENSE00003526483	96288663	96288746
ENSE00003553042	96283535	96283713
ENSE00003563083	96278547	96278711
ENSE00003581227	96289037	96289117
ENSE00003604342	96286311	96286484
ENSE00003618331	96278809	96278998
ENSE00003631761	96277081	96277241
ENSE00003646574	96277539	96277715
ENSE00003654411	96289227	96289379
ENSE00003656934	96283201	96283352
ENSE00003662096	96286688	96286877
ENSE00003681583	96279451	96279559
ENSE00003693722	96287439	96287557

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.9343 / max 728.7264, expressed in 1826 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29735	44.5857	1824
29734	25.1577	1811
29732	0.1593	49
29731	0.0317	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	98.89	gold quality
endometrium epithelium	UBERON:0004811	98.82	gold quality
embryo	UBERON:0000922	98.65	gold quality
epithelium of nasopharynx	UBERON:0001951	98.53	gold quality
ganglionic eminence	UBERON:0004023	98.52	gold quality
nasal cavity epithelium	UBERON:0005384	98.26	gold quality
urethra	UBERON:0000057	98.24	gold quality
parotid gland	UBERON:0001831	98.22	gold quality
pylorus	UBERON:0001166	98.13	gold quality
tibia	UBERON:0000979	98.08	gold quality
nipple	UBERON:0002030	98.08	gold quality
trabecular bone tissue	UBERON:0002483	98.04	gold quality
mammary duct	UBERON:0001765	98.02	gold quality
granulocyte	CL:0000094	98.00	gold quality
upper arm skin	UBERON:0004263	98.00	gold quality
epithelium of mammary gland	UBERON:0003244	97.97	gold quality
right uterine tube	UBERON:0001302	97.92	gold quality
superficial temporal artery	UBERON:0001614	97.90	gold quality
penis	UBERON:0000989	97.89	gold quality
left ovary	UBERON:0002119	97.89	gold quality
right ovary	UBERON:0002118	97.86	gold quality
renal medulla	UBERON:0000362	97.85	gold quality
cardia of stomach	UBERON:0001162	97.80	gold quality
adult organism	UBERON:0007023	97.76	gold quality
trachea	UBERON:0003126	97.72	gold quality
cerebellar hemisphere	UBERON:0002245	97.67	gold quality
superior surface of tongue	UBERON:0007371	97.66	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.63	gold quality
cerebellar cortex	UBERON:0002129	97.62	gold quality
lymph node	UBERON:0000029	97.60	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	1112.54
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting SNRNP200, 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-4531	99.99	69.70	3181
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-155-3P	99.03	67.99	924
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-484	98.16	66.92	1074
HSA-MIR-649	97.96	67.21	704

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 23)

• A novel locus for RP33 has been assigned to chromosomal region 2cen-q12.1, which in a Chinese kindred is associated with a relatively late onset form of retinitis pigmentosa. (PMID:16612614)
• The results provide strong evidence that mutations in ASCC3L1 have resulted in autosomal dominant retinitis pigmentosa in this Chinese family. (PMID:19710410)
• Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200 is reported. (PMID:19878916)
• 4 new missense changes (p.R681C, p.R681H, p.V683L, p.Y689C) affecting highly conserved codons were identified in 6 unrelated individuals, indicating that the prevalence of SNRNP200-associated autosomal dominant retinitis pigmentosa is relatively high. (PMID:21618346)
• A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. (PMID:23029027)
• results reveal the structural and functional interplay between two helicase cassettes in a tandem superfamily 2 enzyme and point to several sites through which Brr2 activity may be regulated (PMID:23045696)
• differential human cell culture splicing and cell cycle defect models due to perturbed levels of human U5 snRNP associated U5-200kD RNA helicase (PMID:23637979)
• 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)
• we evaluated the mutation profile in 24 exons containing the hotspots in SNRNP200 among a cohort of southern Han Chinese retinitis pigmentosa patients and controls. A total of 18 novel variants were detected. (PMID:23887765)
• Our data suggest that BRR2 is an important factor in 5’-splice-site recognition and that the retinitis pigmentosa linked mutations c.3260C>T (p.S1087L) and c.3269G>T (p.R1090L) affect this BRR2 function. (PMID:24302620)
• Mutations in SNRNP200 cause 1.6% of autosomal dominant retinitis pigmentosa. (PMID:24319334)
• Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells. (PMID:25450007)
• This work identifies a novel immunoregulatory role of the spliceosomal SNRNP200 helicase as an RNA sensor and TBK1 adaptor for the activation of IRF3-mediated antiviral innate response (PMID:27454487)
• Biochemical and biophysical analyses revealed that an intrinsically disordered region of FBP21 binds to an extended surface of the C-terminal Sec63 unit of Brr2. Additional contacts in the C-terminal helicase cassette are required for allosteric inhibition of Brr2 helicase activity. (PMID:28838205)
• 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)
• Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa. (PMID:30360737)
• FBP21’s C-Terminal Domain Remains Dynamic When Wrapped around the c-Sec63 Unit of Brr2 Helicase (PMID:30558886)
• The phenotype characteristics in autosomal dominant and recessive SNRNP200 mutations show distinct features, with earlier severe disease in the recessive case and a variable disease expression in the dominant inheritance pattern. (PMID:31260034)
• 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)
• Depletion of SNRNP200 inhibits the osteo-/dentinogenic differentiation and cell proliferation potential of stem cells from the apical papilla. (PMID:33203369)
• Long-range allostery mediates cooperative adenine nucleotide binding by the Ski2-like RNA helicase Brr2. (PMID:34048711)
• Tracing Allostery in the Spliceosome Ski2-like RNA Helicase Brr2. (PMID:38517341)
• PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5 -splice-site selection causing tissue-specific defects. (PMID:38605034)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	snrnp200	ENSDARG00000077536
mus_musculus	Snrnp200	ENSMUSG00000003660
rattus_norvegicus	Snrnp200	ENSRNOG00000012157
drosophila_melanogaster	Brr2	FBGN0263599

Paralogs (8): MTREX (ENSG00000039123), POLQ (ENSG00000051341), ASCC3 (ENSG00000112249), DDX60 (ENSG00000137628), HFM1 (ENSG00000162669), HELQ (ENSG00000163312), DDX60L (ENSG00000181381), SKIC2 (ENSG00000204351)

Protein

Protein identifiers

U5 small nuclear ribonucleoprotein 200 kDa helicase — O75643 (reviewed: O75643)

Alternative names: Activating signal cointegrator 1 complex subunit 3-like 1, BRR2 homolog, U5 snRNP-specific 200 kDa protein

All UniProt accessions (2): O75643, A0A494C1A5

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the ATP-dependent unwinding of U4/U6 RNA duplices, an essential step in the assembly of a catalytically active spliceosome. Plays a role in pre-mRNA splicing as a core component of precatalytic, catalytic and postcatalytic spliceosomal complexes. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. Involved in spliceosome assembly, activation and disassembly. Mediates changes in the dynamic network of RNA-RNA interactions in the spliceosome.

Subunit / interactions. Component of a core complex containing at least PRPF8, SNRNP200, EFTUD2 and SNRNP40. Component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes, building blocks of the spliceosome. 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 precatalytic, catalytic and postcatalytic spliceosomal complexes. Component of the minor spliceosome, which splices U12-type introns. Interacts with C9orf78; the interaction is direct and mutually exclusive with its interaction with WBP4. Interacts with WBP4; the interaction is mutually exclusive with its interaction with C9orf78. Interacts with PRPF8. Interacts with TSSC4; the interaction is direct, excludes recruitment of C9ORF78 and WBP4 to SNRNP200 and negatively regulates its RNA helicase activity.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed.

Disease relevance. Retinitis pigmentosa 33 (RP33) [MIM:610359] 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. Contains two helicase domains. The N-terminal helicase domain has catalytic activity by itself, contrary to the C-terminal helicase domain that may have a regulatory role and enhance the activity of the first helicase domain.

Similarity. Belongs to the helicase family. SKI2 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
O75643-1	1	yes
O75643-2	2

RefSeq proteins (1): NP_054733* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001650	Helicase_C-like	Domain
IPR004179	Sec63-dom	Domain
IPR011545	DEAD/DEAH_box_helicase_dom	Domain
IPR014001	Helicase_ATP-bd	Domain
IPR014756	Ig_E-set	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR035892	C2_domain_sf	Homologous_superfamily
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR041094	Brr2_helicase_PWI	Domain
IPR048863	BRR2_plug	Domain
IPR050474	Hel308_SKI2-like	Family
IPR057842	WH_MER3	Domain

Pfam: PF00270, PF00271, PF02889, PF18149, PF21188, PF23445

Enzyme classification (BRENDA):

• EC 3.6.4.13 — RNA helicase (BRENDA: 3 organisms, 3 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• ATP + H2O = ADP + phosphate + H(+) (RHEA:13065)

UniProt features (261 total): helix 100, strand 78, turn 19, sequence conflict 16, sequence variant 14, modified residue 12, domain 6, mutagenesis site 5, region of interest 3, short sequence motif 2, binding site 2, chain 1, coiled-coil region 1, cross-link 1, splice variant 1

Structure

Experimental structures (PDB)

81 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
2Q0Z	X-RAY DIFFRACTION	2
8BCE	X-RAY DIFFRACTION	2.05
8BC9	X-RAY DIFFRACTION	2.3
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
4F92	X-RAY DIFFRACTION	2.66
7BDL	X-RAY DIFFRACTION	2.69
4F91	X-RAY DIFFRACTION	2.7
8H6K	ELECTRON MICROSCOPY	2.7
5URJ	X-RAY DIFFRACTION	2.75
7OS2	ELECTRON MICROSCOPY	2.76
5URM	X-RAY DIFFRACTION	2.8
7BDI	X-RAY DIFFRACTION	2.8
8BCA	X-RAY DIFFRACTION	2.8
8C6J	ELECTRON MICROSCOPY	2.8
8BCH	X-RAY DIFFRACTION	2.87
7DVQ	ELECTRON MICROSCOPY	2.89
4F93	X-RAY DIFFRACTION	2.92
6QW6	ELECTRON MICROSCOPY	2.92
5URK	X-RAY DIFFRACTION	2.95
6ICZ	ELECTRON MICROSCOPY	3
8I0R	ELECTRON MICROSCOPY	3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75643-F1	82.89	0.45

Functional residue map

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

Ligand- & substrate-binding residues (2): 503–510; 1350–1357

Post-translational modifications (13): 17, 26, 225, 389, 709, 971, 1428, 1765, 2002, 2131, 2133, 2135, 46

Mutagenesis-validated functional residues (5):

Position	Phenotype
603	strongly decreases atp-dependent rna helicase activity.
637	strongly decreases atp-dependent rna helicase activity.
1544	decreases atp-dependent rna helicase activity.
1548	strongly decreases atp-dependent rna helicase activity.
1578	decreases atp-dependent rna helicase activity.

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: 269 (showing top): MORF_MTA1, MORF_DNMT1, MODULE_97, MORF_SMC1L1, MORF_UBE2I, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING, MORF_RRM1, MORF_HDAC1, MORF_UBE2N, MORF_RAD21, MORF_CDK2, GOBP_OSTEOBLAST_DIFFERENTIATION, MODULE_182, MORF_HDAC2, PUJANA_CHEK2_PCC_NETWORK

GO Biological Process (6): cis assembly of pre-catalytic spliceosome (GO:0000354), spliceosome conformational change to release U4 (or U4atac) and U1 (or U11) (GO:0000388), mRNA splicing, via spliceosome (GO:0000398), osteoblast differentiation (GO:0001649), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (10): RNA binding (GO:0003723), RNA helicase activity (GO:0003724), helicase activity (GO:0004386), ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), identical protein binding (GO:0042802), nucleotide binding (GO:0000166), nucleic acid binding (GO:0003676), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (12): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), U5 snRNP (GO:0005682), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), U4/U6 x U5 tri-snRNP complex (GO:0046540), U2-type precatalytic spliceosome (GO:0071005), U2-type catalytic step 1 spliceosome (GO:0071006), catalytic step 2 spliceosome (GO:0071013), small nuclear ribonucleoprotein complex (GO:0030532)

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
protein-RNA complex assembly	2
RNA processing	2
ATP-dependent activity	2
binding	2
cellular anatomical structure	2
nuclear protein-containing complex	2
ribonucleoprotein complex	2
U5 snRNP	2
U2-type spliceosomal complex	2
U2 snRNP	2
spliceosomal complex assembly	1
mRNA cis splicing, via spliceosome	1
spliceosomal conformational changes to generate catalytic conformation	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
ossification	1
cell differentiation	1
mRNA metabolic process	1
nucleic acid binding	1
helicase activity	1
ATP-dependent activity, acting on RNA	1
catalytic activity, acting on RNA	1
nucleic acid conformation isomerase activity	1
catalytic activity, acting on a nucleic acid	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ribonucleoside triphosphate phosphatase activity	1
protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
spliceosomal snRNP complex	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
U4/U6 snRNP	1

Protein interactions and networks

STRING

3048 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNRNP200	PRPF8	Q6P2Q9	986
SNRNP200	EFTUD2	Q15029	982
SNRNP200	PRPF6	O94906	968
SNRNP200	PRPF3	O43395	959
SNRNP200	PRPF31	Q8WWY3	955
SNRNP200	DHX38	Q92620	907
SNRNP200	AAR2	Q9Y312	907
SNRNP200	DDX23	Q9BUQ8	903
SNRNP200	PRPF4	O43172	888
SNRNP200	SART1	O43290	868
SNRNP200	DDX46	Q7L014	862
SNRNP200	SLU7	O95391	834
SNRNP200	RP9	Q8TA86	831
SNRNP200	SF3B3	Q15393	825
SNRNP200	COPS5	Q92905	813

IntAct

345 interactions, top by confidence:

A	B	Type	Score
EFTUD2	SNRNP200	psi-mi:“MI:0915”(physical association)	0.790
SNRNP200	EFTUD2	psi-mi:“MI:0915”(physical association)	0.790
PRPF6	SNRNP200	psi-mi:“MI:0914”(association)	0.770
SNRNP200	PRPF6	psi-mi:“MI:0915”(physical association)	0.770
PRPF6	SNRNP200	psi-mi:“MI:0915”(physical association)	0.770
SNRNP200	PRPF8	psi-mi:“MI:0915”(physical association)	0.740
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SNRNP200	WBP4	psi-mi:“MI:0915”(physical association)	0.690
SNRNP200	WBP4	psi-mi:“MI:0407”(direct interaction)	0.690
HSP90AA1	CHUK	psi-mi:“MI:0914”(association)	0.670
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
GCFC2	SNRNP200	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640

BioGRID (725): PRPF8 (Two-hybrid), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Biochemical Activity), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS), SNRNP200 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I6A2H6, A4IG32, A5D7A0, B1H2N3, D2HZB0, F1LNJ2, O70585, O75643, O88456, P04574, P04632, P06813, P07090, P13135, P22676, P23092, P46940, P47728, Q08331, Q0IIL1, Q1RMX9, Q3ZBY3, Q4FZY0, Q4KUS2, Q4R518, Q5PPL2, Q5RDF9, Q5RDI4, Q62768, Q64537, Q6NWD4, Q6P4T2, Q6P6Q9, Q6PHS6, Q7KZ85, Q86XE3, Q8C079, Q8VCX5, Q8WWF8, Q96C19

Diamond homologs: A2PYH4, A2RUV5, A8MB76, B0R7Q2, B6DMK2, D3Z4R1, E1BNG3, E7F8F4, E9PZJ8, F1LNJ2, F1LPQ2, F1NTD6, F4JAA5, O48534, O59025, O60072, O75643, P32639, P51979, P53327, Q09475, Q54G57, Q54XN7, Q55CI8, Q5D892, Q5H9U9, Q5JGV6, Q5UYM9, Q6P4T2, Q8N3C0, Q974S1, Q9FNQ1, Q9HMV6, Q9P7T8, Q9SYP1, Q9UT24, Q9V0A9, Q9VUV9, A7IB61, D0KN27

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SNRNP200	“form complex”	“U4/U6.U5 snRNP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 197 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	6	27.8×	5e-06
mRNA Splicing - Minor Pathway	10	16.3×	5e-08
RNA Polymerase II Transcription Termination	9	14.4×	1e-06
Transport of Mature Transcript to Cytoplasm	5	13.9×	2e-03
mRNA Splicing - Major Pathway	31	12.4×	1e-22
mRNA Splicing	14	11.2×	4e-09
snRNP Assembly	7	10.8×	2e-04
Processing of Capped Intron-Containing Pre-mRNA	17	10.2×	2e-10

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal tri-snRNP complex assembly	7	46.3×	2e-08
RNA splicing, via transesterification reactions	8	29.4×	5e-08
spliceosomal complex assembly	8	28.3×	6e-08
spliceosomal snRNP assembly	7	23.9×	3e-06
mRNA splicing, via spliceosome	32	17.2×	1e-27
RNA splicing	26	13.5×	2e-19
intrinsic apoptotic signaling pathway	5	10.6×	9e-03
mRNA export from nucleus	6	10.4×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1407 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	6
Uncertain significance	581
Likely benign	637
Benign	37

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1381881	NM_014014.5(SNRNP200):c.1645C>G (p.Gln549Glu)	Pathogenic
143145	NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu)	Pathogenic
39746	NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu)	Pathogenic
39747	NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu)	Pathogenic
7928	NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu)	Pathogenic
1297124	NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp)	Likely pathogenic
3028856	NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro)	Likely pathogenic
3028866	NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs)	Likely pathogenic
812431	NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu)	Likely pathogenic
813998	NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val)	Likely pathogenic
867016	NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val)	Likely pathogenic

SpliceAI

5258 predictions. Top by Δscore:

Variant	Effect	Δscore
2:96275151:TTCAC:T	acceptor_gain	1.0000
2:96275152:TCAC:T	acceptor_gain	1.0000
2:96275153:CAC:C	acceptor_gain	1.0000
2:96275153:CACC:C	acceptor_gain	1.0000
2:96275156:C:A	acceptor_loss	1.0000
2:96275156:C:CC	acceptor_gain	1.0000
2:96275166:C:CT	acceptor_gain	1.0000
2:96275253:TCAC:T	donor_loss	1.0000
2:96275254:CACCT:C	donor_loss	1.0000
2:96275255:A:AC	donor_gain	1.0000
2:96275255:AC:A	donor_gain	1.0000
2:96275255:ACC:A	donor_loss	1.0000
2:96275256:C:CG	donor_gain	1.0000
2:96275256:CC:C	donor_gain	1.0000
2:96275345:CGTTT:C	acceptor_gain	1.0000
2:96275348:TT:T	acceptor_gain	1.0000
2:96275350:C:CC	acceptor_gain	1.0000
2:96275361:C:CT	acceptor_gain	1.0000
2:96275361:C:T	acceptor_gain	1.0000
2:96275362:A:T	acceptor_gain	1.0000
2:96275367:C:CT	acceptor_gain	1.0000
2:96275368:A:T	acceptor_gain	1.0000
2:96275397:CA:C	acceptor_gain	1.0000
2:96275407:C:CT	acceptor_gain	1.0000
2:96275408:A:AC	acceptor_gain	1.0000
2:96275408:A:C	acceptor_gain	1.0000
2:96275417:G:GC	acceptor_gain	1.0000
2:96275420:CAGT:C	acceptor_gain	1.0000
2:96275423:T:C	acceptor_gain	1.0000
2:96275423:T:TC	acceptor_gain	1.0000

AlphaMissense

14121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:96275080:C:G	G2115R	1.000
2:96275080:C:T	G2115R	1.000
2:96275092:C:G	D2111H	1.000
2:96275093:A:C	S2110R	1.000
2:96275093:A:T	S2110R	1.000
2:96275095:T:G	S2110R	1.000
2:96275281:C:A	R2081S	1.000
2:96275281:C:G	R2081S	1.000
2:96275282:C:A	R2081M	1.000
2:96275282:C:G	R2081T	1.000
2:96275284:C:A	K2080N	1.000
2:96275284:C:G	K2080N	1.000
2:96275286:T:C	K2080E	1.000
2:96275297:A:G	L2076P	1.000
2:96275297:A:T	L2076H	1.000
2:96275318:C:T	G2069E	1.000
2:96275319:C:G	G2069R	1.000
2:96275319:C:T	G2069R	1.000
2:96275329:C:A	W2065C	1.000
2:96275329:C:G	W2065C	1.000
2:96275331:A:G	W2065R	1.000
2:96275331:A:T	W2065R	1.000
2:96275334:A:G	W2064R	1.000
2:96275334:A:T	W2064R	1.000
2:96276926:A:T	V2051D	1.000
2:96276950:C:G	R2043P	1.000
2:96277129:G:T	P2015H	1.000
2:96277133:A:C	Y2014D	1.000
2:96277135:C:G	R2013P	1.000
2:96277150:G:T	A2008D	1.000

dbSNP variants (sampled 300 via entrez): RS1000032355 (2:96303456 G>C), RS1000241456 (2:96290851 T>C), RS1000365150 (2:96284130 C>T), RS1000467310 (2:96276620 C>A,T), RS1000490338 (2:96274244 C>T), RS1000492627 (2:96293967 A>G), RS1000673919 (2:96291096 G>A), RS1001035342 (2:96303107 T>A,C), RS1001056927 (2:96295245 G>A), RS1001120279 (2:96295979 T>C), RS1001313878 (2:96288143 C>T), RS1001594681 (2:96307277 T>C), RS1001677337 (2:96293544 C>A,T), RS1001822797 (2:96305520 G>A,C,T), RS1001841757 (2:96280688 T>A,G)

Disease associations

OMIM: gene MIM:601664 | disease phenotypes: MIM:610359, MIM:268000, MIM:120970, MIM:248200

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 33	Definitive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
SNRNP200-related dominant retinopathy	Definitive	AD

Mondo (6): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa 33 (MONDO:0012477), retinitis pigmentosa (MONDO:0019200), retinal disorder (MONDO:0005283), cone-rod dystrophy (MONDO:0015993), Stargardt disease (MONDO:0019353)

Orphanet (4): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Cone rod dystrophy (Orphanet:1872), Stargardt disease (Orphanet:827)

HPO phenotypes

34 total (30 of 34 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: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:0007663	Reduced visual acuity
HP:0007675	Progressive night blindness
HP:0007703	Abnormal retinal pigmentation
HP:0007722	Retinal pigment epithelial atrophy
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
HP:0008046	Abnormal retinal vascular morphology
HP:0011505	Cystoid macular edema
HP:0012426	Optic disc drusen

GWAS associations

0 associations (top):

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
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
D000080362	Stargardt Disease	C11.270.872; C11.768.585.439.339; C16.320.290.724
C563676	Retinitis Pigmentosa 33 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105972 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 3,933 (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
CHEMBL3301622	GILTERITINIB	4	2,395
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

35 potent at pChembl≥5 of 40 total, top 35 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.96	IC50	11	nM	CHEMBL4091579
7.68	IC50	21	nM	CHEMBL4070683
7.62	IC50	24	nM	CHEMBL4091579
7.38	IC50	42	nM	CHEMBL4070683
7.36	IC50	44	nM	CHEMBL4104317
7.12	Kd	76	nM	MOLIBRESIB
7.10	IC50	79	nM	CHEMBL4084949
6.96	IC50	110	nM	CHEMBL4100976
6.75	IC50	180	nM	CHEMBL4097764
6.46	IC50	350	nM	CHEMBL4091579
6.44	IC50	360	nM	CHEMBL4088975
6.41	IC50	390	nM	CHEMBL4080080
6.32	IC50	480	nM	CHEMBL4070683
6.27	Kd	538.6	nM	CHEMBL5653589
6.27	ED50	538.6	nM	CHEMBL5653589
6.10	IC50	790	nM	CHEMBL4065018
6.04	IC50	910	nM	CHEMBL4076145
5.89	IC50	1300	nM	CHEMBL4084949
5.89	IC50	1300	nM	CHEMBL4088974
5.86	Kd	1382	nM	GILTERITINIB
5.85	IC50	1400	nM	CHEMBL4070179
5.80	IC50	1600	nM	CHEMBL4076348
5.77	IC50	1700	nM	CHEMBL4060106
5.77	IC50	1700	nM	CHEMBL4074224
5.57	IC50	2700	nM	CHEMBL4076348
5.55	IC50	2800	nM	CHEMBL4072226
5.47	IC50	3400	nM	CHEMBL4079310
5.38	IC50	4200	nM	CHEMBL4066070
5.37	IC50	4300	nM	CHEMBL4093245
5.34	IC50	4600	nM	CHEMBL4062845
5.28	IC50	5300	nM	CHEMBL4087449
5.28	IC50	5300	nM	CHEMBL4092701
5.21	Kd	6152	nM	CHEMBL3752910
5.21	ED50	6152	nM	CHEMBL3752910
5.10	IC50	8000	nM	CHEMBL4100905

PubChem BioAssay actives

33 with measured affinity, of 323 total; 27 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
(3S,3’R,5’S)-1’-(1-benzylimidazole-4-carbonyl)-5-fluoro-3’-methyl-5’-(2-methylpropyl)spiro[1H-indole-3,2’-pyrrolidine]-2-one	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.0110	uM
(3S,3’R,5’S)-5-fluoro-3’-methyl-1’-(1-methylimidazole-4-carbonyl)-5’-(2-methylpropyl)spiro[1H-indole-3,2’-pyrrolidine]-2-one	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.0210	uM
methyl (3S,3’R,5’S)-1’-(1-benzylimidazole-4-carbonyl)-5-fluoro-5’-(2-methylpropyl)-2-oxospiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.0440	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179120: Binding affinity against SNRNP200 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.0760	uM
6-benzyl-3-[3-(1,3-thiazol-5-ylmethoxy)phenyl]-1,4-dihydropyrido[4,3-d]pyrimidine-2,7-dione	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.0790	uM
methyl (3S,3’R,5’S)-5-fluoro-1’-(1-methylimidazole-4-carbonyl)-5’-(2-methylpropyl)-2-oxospiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.1100	uM
6-benzyl-3-[3-(pyridin-3-ylmethoxy)phenyl]-1,4-dihydropyrido[4,3-d]pyrimidine-2,7-dione	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.1800	uM
(3S,3’R,5’S)-3’-methyl-5’-(2-methylpropyl)-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-2-one	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.3600	uM
methyl (3S,3’R,5’S)-5-fluoro-1’-(1H-imidazole-5-carbonyl)-5’-(2-methylpropyl)-2-oxospiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.3900	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149453: Binding affinity to human SNRNP200 incubated for 45 mins by Kinobead based pull down assay	kd	0.5386	uM
6-benzyl-3-(3-phenylmethoxyphenyl)-1,4-dihydropyrido[4,3-d]pyrimidine-2,7-dione	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.7900	uM
methyl (3S,3’R,5’S)-5-fluoro-5’-(2-methylpropyl)-2-oxo-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	0.9100	uM
(3S,3’R,5’S)-3’-(fluoromethyl)-5’-(2-methylpropyl)-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-2-one	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	1.3000	uM
Gilteritinib	1425174: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry.	kd	1.3820	uM
6-benzyl-3-[3-(pyridin-2-ylmethoxy)phenyl]-1,4-dihydropyrido[4,3-d]pyrimidine-2,7-dione	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	1.4000	uM
methyl (3S,3’R,5’S)-5’-(2-methylpropyl)-2-oxo-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	1.6000	uM
6-benzyl-3-[2-(3-fluoro-2-pyridinyl)-3,4-dihydro-2H-chromen-7-yl]-1,4-dihydropyrido[4,3-d]pyrimidine-2,7-dione	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	1.7000	uM
methyl (3S,3’R,5’S)-5-fluoro-1’-(1-methylimidazole-2-carbonyl)-5’-(2-methylpropyl)-2-oxospiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	1.7000	uM
(3S,3’R,5’S)-3’-(chloromethyl)-5’-(2-methylpropyl)-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-2-one	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	2.8000	uM
methyl (3S,3’R,5’S)-4-fluoro-5’-(2-methylpropyl)-2-oxo-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	3.4000	uM
3-[5-[(Z)-(5-imino-7-oxo-2-propyl-[1,3,4]thiadiazolo[3,2-a]pyrimidin-6-ylidene)methyl]furan-2-yl]benzoic acid	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	4.2000	uM
methyl (3S,3’R,5’S)-7-fluoro-5’-(2-methylpropyl)-2-oxo-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	4.3000	uM
methyl (3S,3’R,5’S)-5-fluoro-5’-(2-methylpropyl)-1’-(1-methylpyrazole-3-carbonyl)-2-oxospiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	4.6000	uM
6-benzyl-3-[2-(3-fluoro-2-pyridinyl)-6-methyl-3,4-dihydro-2H-chromen-7-yl]-1,4-dihydropyrido[4,3-d]pyrimidine-2,7-dione	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	5.3000	uM
3-[5-[(Z)-(2-cyclohexyl-5-imino-7-oxo-[1,3,4]thiadiazolo[3,2-a]pyrimidin-6-ylidene)methyl]furan-2-yl]benzoic acid	1449475: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	5.3000	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149453: Binding affinity to human SNRNP200 incubated for 45 mins by Kinobead based pull down assay	kd	6.1518	uM
methyl (3S,3’R,5’S)-5-chloro-5’-(2-methylpropyl)-2-oxo-1’-(pyridine-2-carbonyl)spiro[1H-indole-3,2’-pyrrolidine]-3’-carboxylate	1461912: Inhibition of full length recombinant human N-terminal His-tagged BRR2 RNA dependent ATPase activity expressed in baculovirus infected Sf9 cells using single stranded poly(U) RNA as substrate after 30 mins by ADP-Glo luminescence assay	ic50	8.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	2
sodium arsenite	increases abundance, increases expression, affects cotreatment, decreases expression	2
Arsenic	affects cotreatment, decreases expression, increases abundance, increases expression	2
Aflatoxin B1	increases methylation	2
FR900359	increases phosphorylation	1
bisphenol F	increases expression	1
TAK-243	decreases sumoylation	1
dicrotophos	increases expression	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
coumarin	increases phosphorylation	1
beta-methylcholine	affects expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
nutlin 3	increases secretion, affects cotreatment	1
hexabrominated diphenyl ether 153	decreases expression	1
bisphenol S	increases expression	1
bisphenol AF	increases expression	1
Troglitazone	decreases expression	1
Benztropine	increases expression, affects cotreatment, decreases expression	1
Caffeine	affects phosphorylation	1
Cisplatin	decreases expression	1
Clozapine	increases expression	1
Cuprizone	affects cotreatment, decreases expression	1
Dactinomycin	affects cotreatment, increases secretion	1
Demecolcine	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Lead	decreases expression	1

ChEMBL screening assays

25 unique, capped per target: 25 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3991887	Binding	Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by ma	The target landscape of clinical kinase drugs. — Science

Cellosaurus cell lines

2 cell lines: 2 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A4CN	LEIi015-A	Induced pluripotent stem cell	Female
CVCL_A4CP	LEIi015-B	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
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
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]
NCT05085964	PHASE2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	PHASE2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	PHASE2	RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	PHASE2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	PHASE2	RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT00063765	PHASE1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	PHASE1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	PHASE1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa