RGR

Summary

RGR (retinal G protein coupled receptor, HGNC:9990) is a protein-coding gene on chromosome 10q23.1, encoding RPE-retinal G protein-coupled receptor (P47804). Receptor for all-trans- and 11-cis-retinal.

This gene encodes a putative retinal G-protein coupled receptor. The gene is a member of the opsin subfamily of the 7 transmembrane, G-protein coupled receptor 1 family. Like other opsins which bind retinaldehyde, it contains a conserved lysine residue in the seventh transmembrane domain. The protein acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. The reverse isomerization occurs with rhodopsin in retinal photoreceptor cells. The protein is exclusively expressed in tissue adjacent to retinal photoreceptor cells, the retinal pigment epithelium and Mueller cells. This gene may be associated with autosomal recessive and autosomal dominant retinitis pigmentosa (arRP and adRP, respectively). Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 5995 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa (Supportive, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 329 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 36
• MANE Select transcript: NM_001012720

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9990
Approved symbol	RGR
Name	retinal G protein coupled receptor
Location	10q23.1
Locus type	gene with protein product
Status	Approved
Aliases	RP44
Ensembl gene	ENSG00000148604
Ensembl biotype	protein_coding
OMIM	600342
Entrez	5995

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 9 protein_coding, 5 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000358110, ENST00000359452, ENST00000372092, ENST00000469446, ENST00000478727, ENST00000479725, ENST00000483660, ENST00000483744, ENST00000483771, ENST00000497161, ENST00000650682, ENST00000650774, ENST00000651155, ENST00000651237, ENST00000652073, ENST00000652092, ENST00000652122, ENST00000652310

RefSeq mRNA: 3 — MANE Select: NM_001012720 NM_001012720, NM_001012722, NM_002921

CCDS: CCDS41543, CCDS7374, CCDS91288

Canonical transcript exons

ENST00000652092 — 7 exons

Exon	Start	End
ENSE00001890388	84258508	84259960
ENSE00003487592	84247591	84247747
ENSE00003567569	84248922	84249043
ENSE00003593197	84257893	84258006
ENSE00003595739	84254326	84254443
ENSE00003609209	84252857	84253010
ENSE00003613609	84245053	84245169

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 98.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8858 / max 2017.7100, expressed in 102 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105939	1.8338	96
105937	0.0361	15
105938	0.0110	4
105936	0.0049	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	98.87	gold quality
frontal pole	UBERON:0002795	85.25	silver quality
paraflocculus	UBERON:0005351	82.01	silver quality
middle frontal gyrus	UBERON:0002702	81.84	silver quality
mucosa of stomach	UBERON:0001199	80.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.87	gold quality
endometrium epithelium	UBERON:0004811	79.33	gold quality
triceps brachii	UBERON:0001509	77.49	gold quality
gluteal muscle	UBERON:0002000	76.88	gold quality
cingulate cortex	UBERON:0003027	76.01	gold quality
anterior cingulate cortex	UBERON:0009835	75.88	gold quality
nucleus accumbens	UBERON:0001882	74.66	gold quality
caudate nucleus	UBERON:0001873	74.52	gold quality
right frontal lobe	UBERON:0002810	73.93	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.82	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.75	gold quality
amygdala	UBERON:0001876	73.62	gold quality
choroid plexus epithelium	UBERON:0003911	73.22	gold quality
prefrontal cortex	UBERON:0000451	73.16	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	73.07	gold quality
lateral globus pallidus	UBERON:0002476	72.49	gold quality
cerebellar vermis	UBERON:0004720	71.87	gold quality
quadriceps femoris	UBERON:0001377	71.51	gold quality
neocortex	UBERON:0001950	71.47	gold quality
vastus lateralis	UBERON:0001379	71.43	gold quality
frontal cortex	UBERON:0001870	71.13	gold quality
olfactory bulb	UBERON:0002264	70.48	gold quality
telencephalon	UBERON:0001893	70.41	gold quality
temporal lobe	UBERON:0001871	70.40	gold quality
substantia nigra pars reticulata	UBERON:0001966	70.31	silver quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	3381.58
E-GEOD-98556	yes	1694.80
E-MTAB-7316	yes	39.39
E-GEOD-135922	yes	20.25
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2C, NR1D1, NR2C1, NR2E3, OTX2, SOX9

miRNA regulators (miRDB)

48 targeting RGR, 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-MIR-126-5P	100.00	72.71	3180
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-4506	99.34	67.47	526
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-4738-3P	98.98	67.98	1846

Literature-anchored findings (GeneRIF, showing 14)

• E150K opsin is partially colocalized with the cis/medial Golgi compartment but not with the trans-Golgi network; results are consistent with recessive pattern of inheritance; retinal degeneration results from deficient export of opsin from the Golgi (PMID:16737970)
• These results indicate that after exon-skipping RGR splice isoform (RGR-d) is synthesized, the RGR-d epitope is released at the basal surface of the retinal pigment epithelium and deposited into Bruch’s membrane in human eyes throughout adult life. (PMID:17679941)
• RGR-opsin mediates light-dependent translocation of all-trans-retinyl esters from a storage pool in lipid droplets to an “isomerase pool” in membranes of the endoplasmic reticulum. (PMID:18474598)
• the exon-skipping variant of RGR (RGR-d) is found in extracellular deposits;at the base of early-stage drusen mounds in the older donors and may precede the formation of these drusen (PMID:19450444)
• It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies. (PMID:21067480)
• conclude that the ability of hRgr to activate both Ral and Ras is responsible for its transformation-inducing phenotype and it could be an important contributor in the development of some T-cell malignancies (PMID:21441953)
• study to systemically analyze the potential role of variants of RGR in retinal diseases results of the suggested that the heterozygous truncation variants in RGR were less likely to be pathogenic (PMID:27748892)
• The results indicate that the cone photoreceptors of humans and cattle express a nonvisual opsin of the Go/RGR or tetraopsin group. (PMID:30034210)
• The clinical data suggest a variable and slow degeneration of the RPE. A shared chromosomal segment surrounding the RGR gene suggests a single ancestral mutational event underlying all three families. (PMID:30347075)
• Human RGR Gene and Associated Features of Age-Related Macular Degeneration in Models of Retina-Choriocapillaris Atrophy. (PMID:34022179)
• A rare case of RGR/CDHR1 haplotype identified in Bulgarian patient with cone-rod dystrophy. (PMID:34229535)
• Proteopathy Linked to Exon-Skipping Isoform of RGR-Opsin Contributes to the Pathogenesis of Age-Related Macular Degeneration. (PMID:37883094)
• A pan-cancer analysis of RGR opsin expression and its downregulation associated with poor prognosis in glioma. (PMID:38053380)
• Expression Analysis of Retinal G Protein-coupled Receptor and its Correlation with Regulation of the Balance between Proliferation and Aberrant Differentiation in Cutaneous Squamous Cell Carcinoma. (PMID:38299232)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rgra	ENSDARG00000054890
danio_rerio	rgrb	ENSDARG00000098724
mus_musculus	Rgr	ENSMUSG00000021804
rattus_norvegicus	Rgr	ENSRNOG00000012396
caenorhabditis_elegans		WBGENE00011578

Paralogs (23): CCR6 (ENSG00000112486), CCRL2 (ENSG00000121797), CCR2 (ENSG00000121807), CXCR4 (ENSG00000121966), CCR7 (ENSG00000126353), ACKR4 (ENSG00000129048), ACKR3 (ENSG00000144476), ACKR2 (ENSG00000144648), CXCR5 (ENSG00000160683), CCR5 (ENSG00000160791), CXCR1 (ENSG00000163464), CCR1 (ENSG00000163823), CX3CR1 (ENSG00000168329), CXCR6 (ENSG00000172215), XCR1 (ENSG00000173578), CCR9 (ENSG00000173585), CCR8 (ENSG00000179934), CXCR2 (ENSG00000180871), GALR2 (ENSG00000182687), CCR3 (ENSG00000183625), CCR4 (ENSG00000183813), CCR10 (ENSG00000184451), CXCR3 (ENSG00000186810)

Protein

Protein identifiers

RPE-retinal G protein-coupled receptor — P47804 (reviewed: P47804)

All UniProt accessions (12): P47804, A0A0S2Z494, A0A0S2Z498, A0A494BZT6, A0A494C063, A0A494C0U5, A0A494C170, A0A494C187, A0A494C1A1, A0A494C1E7, A0A494C1G9, A0A494C1U1

UniProt curated annotations — full annotation on UniProt →

Function. Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism.

Subcellular location. Membrane.

Tissue specificity. Preferentially expressed at high levels in the retinal pigment epithelium (RPE) and Mueller cells of the neural retina.

Post-translational modifications. Covalently binds all-trans- and 11-cis-retinal.

Disease relevance. Retinitis pigmentosa 44 (RP44) [MIM:613769] 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.

Similarity. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
P47804-1	1, Short	yes
P47804-2	2, Long
P47804-3	3

RefSeq proteins (3): NP_001012738, NP_001012740, NP_002912 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000276	GPCR_Rhodpsn	Family
IPR001793	RPE_GPCR	Family
IPR017452	GPCR_Rhodpsn_7TM	Domain
IPR027430	Retinal_BS	Binding_site
IPR050125	GPCR_opsins	Family

Pfam: PF00001

UniProt features (26 total): topological domain 8, transmembrane region 7, sequence variant 5, splice variant 2, chain 1, modified residue 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P47804-F1	90.04	0.78

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 (1): 255

Disulfide bonds (1): 88–162

Glycosylation sites (1): 172

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-418594	G alpha (i) signalling events
R-HSA-419771	Opsins

MSigDB gene sets: 156 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PHOTOTRANSDUCTION, CAGCTG_AP4_Q5, MODULE_289, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_RADIATION, MODULE_123, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, MODULE_113, GOBP_DETECTION_OF_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_RADIATION, GOBP_SENSORY_PERCEPTION

GO Biological Process (6): G protein-coupled receptor signaling pathway (GO:0007186), visual perception (GO:0007601), phototransduction (GO:0007602), cellular response to light stimulus (GO:0071482), signal transduction (GO:0007165), detection of visible light (GO:0009584)

GO Molecular Function (4): G protein-coupled receptor activity (GO:0004930), G protein-coupled photoreceptor activity (GO:0008020), protein binding (GO:0005515), photoreceptor activity (GO:0009881)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
GPCR downstream signalling	1
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
G protein-coupled receptor activity	2
signal transduction	2
detection of light stimulus	2
sensory perception of light stimulus	1
response to light stimulus	1
cellular response to radiation	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
transmembrane signaling receptor activity	1
G protein-coupled receptor signaling pathway	1
detection of visible light	1
photoreceptor activity	1
binding	1
signaling receptor activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RGR	RDH10	Q8IZV5	971
RGR	RDH5	Q92781	871
RGR	RPE65	Q16518	685
RGR	RLBP1	P12271	682
RGR	RBP3	P10745	622
RGR	LRAT	O95237	593
RGR	CERKL	Q49MI3	575
RGR	RBP1	P09455	545
RGR	SDR9C7	Q8NEX9	521
RGR	SORD	Q00796	507
RGR	RDH12	Q96NR8	485
RGR	CNGA1	P29973	484
RGR	CNGB1	Q14028	472
RGR	OTOP3	Q7RTS5	471
RGR	ABCA4	P78363	470

IntAct

7 interactions, top by confidence:

A	B	Type	Score
RGR	KIFBP	psi-mi:“MI:0915”(physical association)	0.510
RGR	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
RGR	CCR2	psi-mi:“MI:0915”(physical association)	0.370
RGR	F2RL1	psi-mi:“MI:0915”(physical association)	0.370
RGR	DUSP14	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): KIAA1279 (Two-hybrid), KIAA1279 (Affinity Capture-Western), RGR (Two-hybrid), RGR (Two-hybrid), RGR (Two-hybrid), RGR (Two-hybrid), RGR (Two-hybrid), DUSP14 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS), HIST2H2AC (Affinity Capture-MS)

ESM2 similar proteins: O88855, O95136, O97666, P11617, P29274, P29275, P29276, P30987, P34972, P35414, P47752, P47803, P47804, P47936, P49220, P49684, P52592, P97583, Q05B81, Q0Q460, Q1LZD0, Q32ZE2, Q5E9H8, Q60613, Q60614, Q6PI62, Q6TLI7, Q6U736, Q6VZZ7, Q6W3F4, Q7TQP3, Q864F6, Q864H0, Q8MJV2, Q8TDV5, Q8VIH9, Q95125, Q95JG1, Q95MG6, Q95MH6

Diamond homologs: O01668, O02464, O02465, O08892, O15973, O16005, O16017, O16018, O16019, O16020, O18312, O18315, O18481, O18485, O18486, O19012, O19014, O19032, O19054, O57422, O61303, O77408, O77713, O77721, O93441, O96107, P04950, P06002, P08099, P08255, P08913, P09241, P0DQD5, P11614, P17646, P18089, P22269, P22329, P24603, P25116

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	188
Likely benign	118
Benign	9

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
438065	NM_001012720.2(RGR):c.*74dup	Pathogenic
802599	NM_001012720.2(RGR):c.820del (p.Arg274fs)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1883 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:84247680:A:C	S57R	0.992
10:84247682:C:A	S57R	0.992
10:84247682:C:G	S57R	0.992
10:84247707:A:C	S66R	0.981
10:84247709:C:A	S66R	0.981
10:84247709:C:G	S66R	0.981
10:84248989:A:C	S102R	0.980
10:84248991:C:A	S102R	0.980
10:84248991:C:G	S102R	0.980
10:84248928:G:C	W81C	0.978
10:84248928:G:T	W81C	0.978
10:84248926:T:A	W81R	0.974
10:84248926:T:C	W81R	0.974
10:84252946:T:A	W150R	0.972
10:84252946:T:C	W150R	0.972
10:84252904:T:A	W136R	0.969
10:84252904:T:C	W136R	0.969
10:84252922:T:A	W142R	0.969
10:84252922:T:C	W142R	0.969
10:84254336:A:C	S175R	0.969
10:84254338:C:A	S175R	0.969
10:84254338:C:G	S175R	0.969
10:84247737:A:C	S76R	0.965
10:84247739:C:A	S76R	0.965
10:84247739:C:G	S76R	0.965
10:84254339:T:C	F176L	0.962
10:84254341:C:A	F176L	0.962
10:84254341:C:G	F176L	0.962
10:84248998:A:C	S105R	0.961
10:84249000:C:A	S105R	0.961

dbSNP variants (sampled 300 via entrez): RS1000087333 (10:84251304 G>A), RS1000121511 (10:84251571 G>A), RS1000164530 (10:84247245 G>A,T), RS1000439895 (10:84258955 G>A), RS1000704943 (10:84247661 C>T), RS1000999204 (10:84257176 G>A), RS1001088292 (10:84252024 A>T), RS1001261539 (10:84257415 C>T), RS1001309844 (10:84246446 G>A), RS1001496871 (10:84256788 A>G), RS1001823100 (10:84256606 G>A), RS1001955147 (10:84250552 A>C), RS1002090922 (10:84250912 A>T), RS1002245848 (10:84244904 C>G,T), RS1002358142 (10:84256695 C>T)

Disease associations

OMIM: gene MIM:600342 | disease phenotypes: MIM:268000, MIM:613769

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa	Supportive	Autosomal dominant
retinitis pigmentosa 44	Limited	Semidominant

Mondo (5): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), retinitis pigmentosa 44 (MONDO:0013414), optic atrophy (MONDO:0003608), cone dystrophy (MONDO:0000455)

Orphanet (3): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791), Progressive cone dystrophy (Orphanet:1871)

HPO phenotypes

36 total (30 of 36 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive 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:0000654	Decreased light- and dark-adapted electroretinogram amplitude
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
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
HP:0008046	Abnormal retinal vascular morphology

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D000077765	Cone Dystrophy	C11.270.151; C11.768.216
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	increases methylation	1
Carmustine	decreases expression	1
Plant Extracts	decreases expression	1

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
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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
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NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
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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