RPGR

Summary

RPGR (retinitis pigmentosa GTPase regulator, HGNC:10295) is a protein-coding gene on chromosome Xp11.4, encoding X-linked retinitis pigmentosa GTPase regulator (Q92834). Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP.

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined.

Source: NCBI Gene 6103 — RefSeq curated summary.

At a glance

• Gene–disease (curated): RPGR-related retinopathy (Definitive, ClinGen) — +6 more curated relationships
• Clinical variants (ClinVar): 2,050 total — 495 pathogenic, 236 likely-pathogenic
• Phenotypes (HPO): 111
• MANE Select transcript: NM_001034853

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10295
Approved symbol	RPGR
Name	retinitis pigmentosa GTPase regulator
Location	Xp11.4
Locus type	gene with protein product
Status	Approved
Aliases	CORDX1
Ensembl gene	ENSG00000156313
Ensembl biotype	protein_coding
OMIM	312610
Entrez	6103

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 9 protein_coding, 6 nonsense_mediated_decay, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000339363, ENST00000464437, ENST00000470183, ENST00000474584, ENST00000476559, ENST00000482855, ENST00000494707, ENST00000494841, ENST00000642170, ENST00000642373, ENST00000642395, ENST00000642558, ENST00000642739, ENST00000644238, ENST00000644337, ENST00000645032, ENST00000645124, ENST00000646020, ENST00000647261

RefSeq mRNA: 9 — MANE Select: NM_001034853 NM_000328, NM_001034853, NM_001367245, NM_001367246, NM_001367247, NM_001367248, NM_001367249, NM_001367250, NM_001367251

CCDS: CCDS14246, CCDS35229, CCDS94588, CCDS94589

Canonical transcript exons

ENST00000645032 — 15 exons

Exon	Start	End
ENSE00001025711	38297284	38297452
ENSE00001025712	38322853	38322945
ENSE00001025715	38317316	38317465
ENSE00001025716	38310615	38310773
ENSE00001025717	38321027	38321089
ENSE00001025722	38318829	38318987
ENSE00001025723	38291393	38291484
ENSE00001025728	38323399	38323524
ENSE00001025734	38304635	38304790
ENSE00001477761	38284408	38287245
ENSE00003474832	38290959	38291024
ENSE00003499935	38287861	38288041
ENSE00003518146	38298956	38299141
ENSE00003591393	38301247	38301371
ENSE00003902795	38327340	38327509

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 95.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.2875 / max 192.8364, expressed in 1647 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198902	3.9842	1408
198903	2.1316	1126
198901	1.7743	435
198904	0.2714	102
198900	0.1261	34

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.61	gold quality
bronchial epithelial cell	CL:0002328	94.94	gold quality
right uterine tube	UBERON:0001302	94.54	gold quality
right lung	UBERON:0002167	93.88	gold quality
epithelium of bronchus	UBERON:0002031	93.79	gold quality
male germ cell	CL:0000015	93.04	gold quality
bronchus	UBERON:0002185	92.79	gold quality
adenohypophysis	UBERON:0002196	92.57	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.24	gold quality
pituitary gland	UBERON:0000007	91.34	gold quality
tibial nerve	UBERON:0001323	90.18	gold quality
subcutaneous adipose tissue	UBERON:0002190	89.85	gold quality
choroid plexus epithelium	UBERON:0003911	89.83	gold quality
omental fat pad	UBERON:0010414	89.68	gold quality
peritoneum	UBERON:0002358	89.61	gold quality
upper lobe of left lung	UBERON:0008952	89.51	gold quality
left uterine tube	UBERON:0001303	89.06	gold quality
upper lobe of lung	UBERON:0008948	88.92	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.61	gold quality
sural nerve	UBERON:0015488	88.58	gold quality
mucosa of stomach	UBERON:0001199	88.54	gold quality
secondary oocyte	CL:0000655	88.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.77	gold quality
body of uterus	UBERON:0009853	87.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.61	gold quality
endocervix	UBERON:0000458	86.28	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.18	gold quality
ectocervix	UBERON:0012249	86.06	gold quality
epithelium of nasopharynx	UBERON:0001951	85.75	gold quality
calcaneal tendon	UBERON:0003701	85.68	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

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

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-4465	99.71	72.56	2096
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-548U	99.65	67.78	1463
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4753-5P	99.54	68.51	1356
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-548G-3P	99.48	68.67	2159

Literature-anchored findings (GeneRIF, showing 40)

• Insertional/deletional mutations observed in the three families with X-linked retinitis pigmentosa are all different and new, and are predicted to lead to a frameshift, resulting in a truncated protein. (PMID:11754050)
• X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15 (PMID:11857109)
• A mutation in this gene causes X-linked cone dystrophy. This type of hereditary retinal degeneration is distinct from retinitis pigmentosa. (PMID:11875055)
• A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. (PMID:11992260)
• RPGR and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors. (PMID:12140192)
• Identification of an RPGR mutation in atrophic macular degeneration expands the phenotypic range from retinitis pigmentosa. (PMID:12160730)
• RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. (PMID:12657579)
• Different RPGR mutations lead to distinct RP (retinitis pigmentosa) phenotypes, with a highly variable inter- and intrafamilial phenotypic spectrum of disease (PMID:14516808)
• Among patients with RPGR mutations, those with ORF15 mutations had, on average, a significantly larger visual field area and a borderline larger ERG amplitude than did patients with RPGR mutations in exons 1-14 (PMID:14564670)
• Mutations in the RPGR gene is associated with X-linked retinitis pigmentosa (PMID:14566651)
• Sequencing revealed skipping of exon 2 in the mutated transcript, leading to in-frame deletion of 42 amino acids affecting the critical RCC1-like domain. (PMID:15364249)
• RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. (PMID:15772089)
• Two families were identified with nonsense mutations, and clinical evaluation revealed them both to have a similar phenotype. (PMID:15914600)
• RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. (PMID:16043481)
• This 30 kb deletion contains the exons coding for the RCC1-like domain of RPGR. It is the first report of a macrodeletion that spans the entire RCC1-like domain of RPGR in X-linked retinitis pigmentosa patients (PMID:16052169)
• Finding expands the spectrum of RPGR mutations causing X-linked dominant retinitis pigmentosa in Chinese family and is useful for further genetic consultation and genetic diagnosis. (PMID:16086276)
• the mutational risk in the RPGR gene appears not to be altered by the haplotype background (PMID:16273303)
• This report expands the clinical heterogeneity spectrum caused by RPGR mutations and our knowledge concerning the molecular pathologic condition that pertains to Coats’-like RP. (PMID:16387007)
• We describe a novel PRPF31 mutation and present the first case of a homozygous mutation in the RPGR gene in a female individual. (PMID:16917484)
• A defect in trafficking of opsins to outer segments exists in a carrier with the RPGR Gly436Asp mutation. (PMID:16935610)
• In this cohort of XLRP families, as has happened in previous studies, RP3 also seems to be the most prevalent form of XLRP, and, based on the results, the authors propose a four-step protocol for molecular diagnosis of XLRP families. (PMID:16936086)
• 26 new mutations in RP2 and RPGR patients with X-linked Retinitis Pigmentosa. (PMID:16969763)
• Three ORF15 mutations and one RP2 mutation in five Japanese retinitis pigmentosa families. (PMID:17093403)
• All disease-causing mutations occur in one or more RPGR isoforms containing the carboxyl-terminal exon open reading frame 15 (ORF15), which are widely expressed but show their highest expression in the connecting cilia of rod and cone photoreceptors. (PMID:17195164)
• the ORF15 and RCC1-like domain of RPGR play a crucial role in the human retina (PMID:17249551)
• Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations. (PMID:17325176)
• The nucleotide substitution affects regulated alternative splicing of the novel RPGR isoform and suggests a tight adjustment of splicing as a prerequisite for proper function of photoreceptors. (PMID:17405150)
• These results indicate that an additional gene (or genes), linked to RPGR, modulate disease expression in severely affected carriers. (PMID:17480003)
• The proportion of RP2-mediated XLRP in the Danish population is higher and the proportion of RPGR-ORF15 is lower than reported in other studies. (PMID:17724181)
• Associated with retinitis pigmentosa in all hemizygous males and four of five heterozygous female carriers in Chinese family. These results revealed broader xlRP genotypic and phenotypic spectrum of RPGR mutations. (PMID:17893654)
• Inner retinal laminar abnormalities in RPGR-XLRP are likely to reflect a neuronal-glial retinal remodeling response to photoreceptor loss and are detectable relatively early in the disease course. (PMID:17898302)
• We identified a novel mutation in the 3’ end of a highly repetitive region of exon open reading frame 15 (ORF15) and documented the detailed phenotypes of the patients with XLRP with the mutation. (PMID:17923551)
• Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene is reported. (PMID:18188948)
• An identical mutation in RPGR-ORF15 manifested distinct clinical phenotypes in individuals of the same family. (PMID:18332319)
• This novel mutation in RPGRcauses X-Linked RP with complete penetrance in males and females and affected females are highly myopic but retain better visual function than affected males. (PMID:19218993)
• Four different RPGR ORF15 mutations were found in four probands and all mutations in the ORF15 exon resulted in premature truncation of the RPGR protein. (PMID:19429592)
• RPGR is involved in cilia-dependent cascades during development in zebrafish. (PMID:19815619)
• These findings show that splicing of RPGR is precisely regulated in a tissue-dependent fashion and suggest that mutations in RPGR frequently interfere with the expression of alternative transcript isoforms. (PMID:19834030)
• Our results expand the frequency and spectrum of mutations at RPGR and RP2 as well as their associated clinical phenotypes in Chinese patients. (PMID:20021257)
• The pedigree we have investigated here represents the first Czech family with an identified molecular genetic cause of retinitis pigmentosa (PMID:20064120)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpgra	ENSDARG00000056617
danio_rerio	rpgrb	ENSDARG00000057074
mus_musculus	Rpgr	ENSMUSG00000031174
rattus_norvegicus	Rpgr	ENSRNOG00000003013
drosophila_melanogaster	Rcc1	FBGN0002638
drosophila_melanogaster	CG7420	FBGN0031344
caenorhabditis_elegans		WBGENE00004304

Paralogs (9): ALS2 (ENSG00000003393), HERC1 (ENSG00000103657), SERGEF (ENSG00000129158), RCBTB1 (ENSG00000136144), RCBTB2 (ENSG00000136161), RCCD1 (ENSG00000166965), RCC2 (ENSG00000179051), RCC1 (ENSG00000180198), RCC1L (ENSG00000274523)

Protein

Protein identifiers

X-linked retinitis pigmentosa GTPase regulator — Q92834 (reviewed: Q92834)

All UniProt accessions (11): Q92834, A0A0S2Z4Y6, A0A2R8Y414, A0A2R8Y4C9, A0A2R8Y838, A0A2R8YDN2, A0A2R8YF02, A0A2R8YFT6, A0A2R8YGY6, H7C4H4, H7C4L1

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP. GEF activity towards RAB8A may facilitate ciliary trafficking by modulating ciliary intracellular localization of RAB8A. GEF activity towards RAB37 maintains autophagic homeostasis and retinal function. Involved in photoreceptor integrity. May control cilia formation by regulating actin stress filaments and cell contractility. May be involved in microtubule organization and regulation of transport in primary cilia. May play a critical role in spermatogenesis and in intraflagellar transport processes.

Subunit / interactions. Interacts with SPATA7. Interacts with CEP290. Interacts with WHRN. Interacts with PDE6D. Interacts with RPGRIP1. Interacts with RPGRIP1L. PDE6D, RPGRIP1 and RPGRIP1L may compete for the same binding sites. Interacts with RAB37 and RAB8A (in GDP-bound forms); functions as GEF for RAB37 and RAB8A. Isoform 6 interacts with NPM1 (via C-terminus). Isoform 6 interacts with SMC1A and SMC3.

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum axoneme. Golgi apparatus. Cell projection. Cilium Cytoplasm. Microtubule organizing center. Centrosome. Cilium basal body. Cilium axoneme.

Tissue specificity. Heart, brain, placenta, lung, liver, muscle, kidney, retina, pancreas and fetal retinal pigment epithelium. Isoform 3 is found only in the retina. Colocalizes with RPGRIP1 in the outer segment of rod photoreceptors and cone outer segments.

Post-translational modifications. Prenylated.

Disease relevance. Retinitis pigmentosa 3 (RP3) [MIM:300029] An X-linked 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. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex. The disease is caused by variants affecting the gene represented in this entry. Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness (RPSRDF) [MIM:300455] A disease characterized by the association of retinitis pigmentosa with recurrent upper and lower airway infections. Some patients also develop progressive hearing loss. The disease is caused by variants affecting the gene represented in this entry. Cone-rod dystrophy, X-linked 1 (CORDX1) [MIM:304020] An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms. The disease is caused by variants affecting the gene represented in this entry. Macular degeneration, atrophic, X-linked (MDXLA) [MIM:300834] An ocular disorder characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment. Some patients manifest extensive macular degeneration plus peripheral loss of retinal pigment epithelium and choriocapillaries. Full-field electroretinograms (ERGs) show normal cone and rod responses in some affected males despite advanced macular degeneration. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The RCC1 repeat region mediates interactions with RPGRIP1.

Isoforms (6)

UniProt ID	Names	Canonical?
Q92834-1	1	yes
Q92834-2	2
Q92834-3	3
Q92834-4	4
Q92834-5	5
Q92834-6	6, ORF15

RefSeq proteins (9): NP_000319, NP_001030025, NP_001354174, NP_001354175, NP_001354176, NP_001354177, NP_001354178, NP_001354179, NP_001354180 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000408	Reg_chr_condens	Repeat
IPR009091	RCC1/BLIP-II	Homologous_superfamily
IPR051625	Signaling_Regulatory_Domain	Family
IPR058923	RCC1-like_dom	Domain

Pfam: PF25390

UniProt features (109 total): sequence variant 36, strand 30, compositionally biased region 9, splice variant 7, repeat 6, helix 5, region of interest 3, sequence conflict 3, modified residue 3, mutagenesis site 2, turn 2, chain 1, propeptide 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4JHN	X-RAY DIFFRACTION	1.7
4QAM	X-RAY DIFFRACTION	1.83
4JHP	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92834-F1	56.59	0.34

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 (4): 418, 518, 1017, 1017

Mutagenesis-validated functional residues (2):

Position	Phenotype
36	does not reduce interaction with pde6d.
323	abolishes interaction with rpgrip1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 393 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOLDRATH_IMMUNE_MEMORY, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, ONKEN_UVEAL_MELANOMA_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_CILIUM_ORGANIZATION

GO Biological Process (11): ubiquitin-dependent protein catabolic process (GO:0006511), intracellular protein transport (GO:0006886), visual perception (GO:0007601), positive regulation of autophagy (GO:0010508), protein ubiquitination (GO:0016567), intraciliary transport (GO:0042073), eye photoreceptor cell development (GO:0042462), cilium assembly (GO:0060271), protein localization to non-motile cilium (GO:0097499), cell projection organization (GO:0030030), cilium organization (GO:0044782)

GO Molecular Function (4): RNA binding (GO:0003723), guanyl-nucleotide exchange factor activity (GO:0005085), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)

GO Cellular Component (14): photoreceptor outer segment (GO:0001750), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), centrosome (GO:0005813), axoneme (GO:0005930), photoreceptor connecting cilium (GO:0032391), ciliary basal body (GO:0036064), sperm flagellum (GO:0036126), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995), photoreceptor cell cilium (GO:0097733)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
cilium	3
cilium organization	2
protein localization to cilium	2
photoreceptor cell cilium	2
microtubule organizing center	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
intracellular protein localization	1
protein transport	1
intracellular transport	1
sensory perception of light stimulus	1
autophagy	1
positive regulation of catabolic process	1
regulation of autophagy	1
protein modification by small protein conjugation	1
transport along microtubule	1
eye photoreceptor cell differentiation	1
photoreceptor cell development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
organelle organization	1
plasma membrane bounded cell projection organization	1
nucleic acid binding	1
GTP binding	1
GDP binding	1
GTPase regulator activity	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
centriole	1

Protein interactions and networks

STRING

2084 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPGR	RPGRIP1	Q96KN7	999
RPGR	IQCB1	Q15051	985
RPGR	CEP290	O15078	971
RPGR	RPGRIP1L	Q68CZ1	943
RPGR	NPHP4	O75161	909
RPGR	IFT88	Q13099	899
RPGR	ABCA4	P78363	899
RPGR	RHO	P08100	858
RPGR	RPE65	Q16518	843
RPGR	CACNA1F	O60840	843
RPGR	NPHP1	O15259	840
RPGR	EYS	Q5T1H1	832
RPGR	PRPF31	Q8WWY3	824
RPGR	PRPH2	P23942	816
RPGR	DNAI1	Q9UI46	798

IntAct

60 interactions, top by confidence:

A	B	Type	Score
PDE6D	ARL3	psi-mi:“MI:0914”(association)	0.920
RPGR	PDE6D	psi-mi:“MI:0407”(direct interaction)	0.860
PDE6D	RPGR	psi-mi:“MI:0407”(direct interaction)	0.860
PDE6D	RPGR	psi-mi:“MI:0915”(physical association)	0.860
RPGRIP1	RPGR	psi-mi:“MI:0915”(physical association)	0.840
RPGR	RPGRIP1	psi-mi:“MI:0915”(physical association)	0.840
RPGR	NPHP4	psi-mi:“MI:2364”(proximity)	0.730
RPGR	NPHP4	psi-mi:“MI:0915”(physical association)	0.730
Arl2	PDE6D	psi-mi:“MI:0915”(physical association)	0.710
PDE6D	RHEB	psi-mi:“MI:0915”(physical association)	0.650
RPGRIP1	NEK4	psi-mi:“MI:0914”(association)	0.620
Arl3	PDE6D	psi-mi:“MI:0915”(physical association)	0.600
RPGR	NPHP1	psi-mi:“MI:0915”(physical association)	0.560
RPGR	RPGRIP1	psi-mi:“MI:0915”(physical association)	0.560
RPGR	HOMEZ	psi-mi:“MI:0915”(physical association)	0.560
RPGR		psi-mi:“MI:0915”(physical association)	0.560

BioGRID (87): RPGRIP1 (Two-hybrid), RPGR (Affinity Capture-MS), RPGR (Proximity Label-MS), BIRC6 (Proximity Label-MS), NPHP4 (Proximity Label-MS), NUDC (Proximity Label-MS), NUDCD2 (Proximity Label-MS), NUDCD3 (Proximity Label-MS), RPGRIP1L (Proximity Label-MS), UNC45A (Proximity Label-MS), DNAJA1 (Proximity Label-MS), DNAJC7 (Proximity Label-MS), DNM2 (Proximity Label-MS), FKBP4 (Proximity Label-MS), RHOA (Proximity Label-MS)

ESM2 similar proteins: A1Z1Q3, A6H8Y1, A7MBJ2, B2RX14, B8QB46, D3ZF42, F6QRE9, O02751, O70551, O94972, P17029, P23497, Q08995, Q08AY6, Q0V9E9, Q13342, Q3UVR3, Q3UZ39, Q498E6, Q587J6, Q588U8, Q5BLK4, Q5DTT8, Q5RD27, Q5RE50, Q5RHP9, Q5T7B8, Q5T7N2, Q5TAX3, Q5VYS8, Q61687, Q63HK3, Q6IQ55, Q6PCX9, Q7Z5L2, Q8BJM3, Q8BUH8, Q8IW19, Q8L7S0, Q92834

Diamond homologs: A6NED2, D3ZGQ5, F1RD40, O75592, O95199, O95714, P0C5Y8, P18754, P23800, P25171, P25183, P58544, Q15034, Q15751, Q4R828, Q4U2R1, Q52KW8, Q5BIW4, Q5DX34, Q5GLZ8, Q5PQN1, Q5RCZ7, Q6NRS1, Q6NXM2, Q6NYE2, Q6PAV2, Q6ZPR6, Q7TPH6, Q7ZZC8, Q86SG6, Q8BK67, Q8BTU7, Q8IVU3, Q8K1R7, Q8K2J9, Q8NDN9, Q8SSY6, Q8TD19, Q8VE37, Q90XC2

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
RPGR	“up-regulates activity”	RAB8A	“guanine nucleotide exchange factor”
RPGRIP1	“down-regulates activity”	RPGR	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Anchoring of the basal body to the plasma membrane	5	28.3×	1e-04
Cell Cycle	5	9.0×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

2050 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	495
Likely pathogenic	236
Uncertain significance	548
Likely benign	332
Benign	109

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1065689	NM_001034853.2(RPGR):c.1754-3C>G	Pathogenic
1172694	NM_001034853.2(RPGR):c.736_745dup (p.Ala249fs)	Pathogenic
1172696	NM_001034853.2(RPGR):c.2455_2468dup (p.Lys823_Gly824insTer)	Pathogenic
1184953	NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs)	Pathogenic
1208230	NM_001034853.2(RPGR):c.2330del (p.Lys777fs)	Pathogenic
1213920	NM_001034853.2(RPGR):c.779-2A>G	Pathogenic
1213921	NM_001034853.2(RPGR):c.2078_2148dup (p.Gln717delinsArgArgAsnTer)	Pathogenic
1213922	NM_001034853.2(RPGR):c.1541C>G (p.Ser514Ter)	Pathogenic
1213924	NM_001034853.2(RPGR):c.934+2T>C	Pathogenic
1213925	NM_001034853.2(RPGR):c.897T>A (p.Tyr299Ter)	Pathogenic
1213926	NM_001034853.2(RPGR):c.665T>G (p.Leu222Ter)	Pathogenic
1275779	NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)	Pathogenic
1275798	NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter)	Pathogenic
1284333	NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs)	Pathogenic
1284488	NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs)	Pathogenic
1297114	NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs)	Pathogenic
1297120	NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs)	Pathogenic
1297121	NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter)	Pathogenic
1297740	NM_001034853.2(RPGR):c.1796dup (p.Asn599fs)	Pathogenic
1333218	NM_001034853.2(RPGR):c.1379del (p.Leu460fs)	Pathogenic
1455429	NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs)	Pathogenic
1456564	NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter)	Pathogenic
1460223	NM_001034853.2(RPGR):c.2293G>T (p.Glu765Ter)	Pathogenic
1686131	NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)	Pathogenic
1686132	NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)	Pathogenic
1691867	NM_001034853.2(RPGR):c.544_545del (p.Val182fs)	Pathogenic
1701595	NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs)	Pathogenic
1701807	NM_001034853.2(RPGR):c.2512del (p.Glu838fs)	Pathogenic
1707409	NM_001034853.2(RPGR):c.1302dup (p.Leu435fs)	Pathogenic
1708067	NM_001034853.2(RPGR):c.2149C>T (p.Gln717Ter)	Pathogenic

SpliceAI

3861 predictions. Top by Δscore:

Variant	Effect	Δscore
X:38269833:C:CC	acceptor_gain	1.0000
X:38276581:TCATA:T	donor_loss	1.0000
X:38276582:CATA:C	donor_loss	1.0000
X:38276583:ATAC:A	donor_loss	1.0000
X:38276584:TACC:T	donor_loss	1.0000
X:38276585:ACCTT:A	donor_loss	1.0000
X:38276586:C:G	donor_loss	1.0000
X:38276770:ATCC:A	acceptor_loss	1.0000
X:38276771:TC:T	acceptor_gain	1.0000
X:38276772:CC:C	acceptor_gain	1.0000
X:38276772:CCTGT:C	acceptor_loss	1.0000
X:38276773:C:A	acceptor_loss	1.0000
X:38276774:T:G	acceptor_loss	1.0000
X:38276792:C:CT	acceptor_gain	1.0000
X:38290855:G:GG	donor_gain	1.0000
X:38291022:TGT:T	acceptor_gain	1.0000
X:38291022:TGTCT:T	acceptor_loss	1.0000
X:38291024:TCTG:T	acceptor_loss	1.0000
X:38291025:C:CC	acceptor_gain	1.0000
X:38291025:C:CG	acceptor_loss	1.0000
X:38291026:T:G	acceptor_loss	1.0000
X:38298362:T:TA	donor_gain	1.0000
X:38298928:TATTA:T	donor_gain	1.0000
X:38299004:T:A	donor_gain	1.0000
X:38310613:AC:A	donor_gain	1.0000
X:38310614:CC:C	donor_gain	1.0000
X:38310771:CTG:C	acceptor_gain	1.0000
X:38310774:C:CC	acceptor_gain	1.0000
X:38310777:T:TC	acceptor_gain	1.0000
X:38317462:TCCT:T	acceptor_gain	1.0000

AlphaMissense

7576 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:38317445:A:G	W164R	0.999
X:38317445:A:T	W164R	0.999
X:38301347:C:A	G320V	0.998
X:38301347:C:T	G320E	0.998
X:38304769:C:T	G267E	0.998
X:38304754:C:T	G272D	0.997
X:38304770:C:A	G267W	0.997
X:38304748:A:G	L274P	0.996
X:38310749:C:T	G215E	0.996
X:38318841:C:G	A153P	0.996
X:38318963:C:T	G112D	0.996
X:38301348:C:G	G320R	0.995
X:38301348:C:T	G320R	0.995
X:38304647:C:G	A308P	0.995
X:38304754:C:A	G272V	0.995
X:38317441:C:T	G165D	0.995
X:38317442:C:G	G165R	0.995
X:38317443:C:A	W164C	0.995
X:38317443:C:G	W164C	0.995
X:38318840:G:T	A153D	0.995
X:38318939:C:T	G120E	0.995
X:38322897:C:T	G68E	0.995
X:38304646:G:T	A308D	0.994
X:38317387:G:T	P183H	0.994
X:38317441:C:A	G165V	0.994
X:38318844:A:G	S152P	0.994
X:38318940:C:G	G120R	0.994
X:38318940:C:T	G120R	0.994
X:38318956:A:C	N114K	0.994
X:38318956:A:T	N114K	0.994

dbSNP variants (sampled 300 via entrez): RS1000109075 (X:38310574 C>T), RS1000201411 (X:38323766 G>A), RS1000221282 (X:38328959 T>C), RS1000340897 (X:38311006 T>C), RS1000397233 (X:38311298 C>G), RS1000542679 (X:38310105 G>A), RS1000555420 (X:38305767 A>G), RS1000721728 (X:38275765 TAA>T), RS1000760342 (X:38290001 T>C), RS1000894314 (X:38300877 TGA>T), RS1000926397 (X:38300299 T>C), RS1000944858 (X:38287127 C>A,T), RS1000980546 (X:38296144 T>C), RS1001154289 (X:38313273 T>C), RS1001192841 (X:38289482 T>C)

Disease associations

OMIM: gene MIM:312610 | disease phenotypes: MIM:244400, MIM:300029, MIM:300834, MIM:304020, MIM:268000, MIM:120970, MIM:204000, MIM:310500, MIM:617238, MIM:312612

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 3	Definitive	X-linked
primary ciliary dyskinesia-retinitis pigmentosa syndrome	Strong	X-linked
cone-rod dystrophy	Supportive	Autosomal dominant
primary ciliary dyskinesia	Supportive	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant
macular degeneration, X-linked atrophic	Limited	X-linked

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
RPGR-related retinopathy	Definitive	XL

Mondo (20): primary ciliary dyskinesia (MONDO:0016575), retinitis pigmentosa 3 (MONDO:0010227), macular degeneration, X-linked atrophic (MONDO:0010443), X-linked cone-rod dystrophy 1 (MONDO:0010566), RPGR-related retinopathy (MONDO:0100437), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), X-linked cone-rod dystrophy (MONDO:0021155), cone-rod dystrophy (MONDO:0015993), optic atrophy (MONDO:0003608), Leber congenital amaurosis (MONDO:0018998), congenital stationary night blindness (MONDO:0016293), retinal disorder (MONDO:0005283), esophageal atresia (MONDO:0001044), pyloric stenosis (MONDO:0001561)

Orphanet (8): Primary ciliary dyskinesia (Orphanet:244), Cone rod dystrophy (Orphanet:1872), Primary ciliary dyskinesia-retinitis pigmentosa syndrome (Orphanet:247522), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Leber congenital amaurosis (Orphanet:65), Congenital stationary night blindness (Orphanet:215), Progressive cone dystrophy (Orphanet:1871)

HPO phenotypes

111 total (30 of 111 shown, HPO-id order):

HPO	Term
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000388	Otitis media
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
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:0000529	Progressive visual loss
HP:0000539	Abnormality of refraction
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000545	Myopia
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000602	Ophthalmoplegia
HP:0000603	Central scotoma
HP:0000608	Macular degeneration
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000750	Delayed speech and language development
HP:0000842	Hyperinsulinemia

GWAS associations

0 associations (top):

MeSH disease descriptors (17)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D000077765	Cone Dystrophy	C11.270.151; C11.768.216
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D017219	Gastric Outlet Obstruction	C06.405.748.340
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D011707	Pyloric Stenosis	C06.405.748.340.690
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
C564438	Cone-Rod Dystrophy, X-Linked, Type 1 (supp.)
C536122	Night blindness, congenital stationary (supp.)
C564520	Retinitis Pigmentosa 3 (supp.)
C564065	Retinitis Pigmentosa 6 (supp.)
C567595	Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
cupric chloride	increases expression	1
coumarin	decreases phosphorylation	1
pentanal	decreases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
(+)-JQ1 compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Caffeine	increases phosphorylation	1
Estradiol	affects expression	1
Hydrogen Peroxide	affects expression	1
Mercuric Chloride	affects response to substance	1
Ozone	affects expression, increases abundance	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases expression	1

Clinical trials (associated diseases)

322 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
NCT01773278	PHASE2	RECRUITING	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
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