RGL4
geneOn this page
Also known as Rgr
Summary
RGL4 (ral guanine nucleotide dissociation stimulator like 4, HGNC:31911) is a protein-coding gene on chromosome 22q11.23, encoding Ral-GDS-related protein (Q8IZJ4).
This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade.
Source: NCBI Gene 266747 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinitis pigmentosa (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 3
- Clinical variants (ClinVar): 421 total — 1 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_153615
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31911 |
| Approved symbol | RGL4 |
| Name | ral guanine nucleotide dissociation stimulator like 4 |
| Location | 22q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Rgr |
| Ensembl gene | ENSG00000159496 |
| Ensembl biotype | protein_coding |
| OMIM | 612214 |
| Entrez | 266747 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000290691, ENST00000401461, ENST00000423392, ENST00000441897, ENST00000452208, ENST00000460003, ENST00000460167, ENST00000467354, ENST00000612432, ENST00000615003
RefSeq mRNA: 3 — MANE Select: NM_153615
NM_001329424, NM_001329425, NM_153615
CCDS: CCDS13811
Canonical transcript exons
ENST00000290691 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002305444 | 23691013 | 23692209 |
| ENSE00003461694 | 23697838 | 23697861 |
| ENSE00003491804 | 23692335 | 23692528 |
| ENSE00003555602 | 23697171 | 23697245 |
| ENSE00003580498 | 23694950 | 23695019 |
| ENSE00003601906 | 23693759 | 23693974 |
| ENSE00003609268 | 23696614 | 23696688 |
| ENSE00003631118 | 23694347 | 23694450 |
| ENSE00003667662 | 23698212 | 23698333 |
| ENSE00003670665 | 23692669 | 23692991 |
| ENSE00003918580 | 23698844 | 23699168 |
Expression profiles
Bgee: expression breadth ubiquitous, 155 present calls, max score 95.35.
FANTOM5 (CAGE): breadth broad, TPM avg 5.2995 / max 1505.8311, expressed in 186 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 191317 | 5.2788 | 182 |
| 191316 | 0.0208 | 5 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bone marrow | UBERON:0002371 | 95.35 | gold quality |
| bone marrow cell | CL:0002092 | 93.07 | gold quality |
| blood | UBERON:0000178 | 92.42 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.79 | gold quality |
| granulocyte | CL:0000094 | 86.03 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.33 | gold quality |
| spleen | UBERON:0002106 | 84.13 | gold quality |
| vermiform appendix | UBERON:0001154 | 80.33 | gold quality |
| leukocyte | CL:0000738 | 78.54 | gold quality |
| monocyte | CL:0000576 | 77.85 | gold quality |
| lymph node | UBERON:0000029 | 77.72 | gold quality |
| right lung | UBERON:0002167 | 74.86 | gold quality |
| left testis | UBERON:0004533 | 72.32 | gold quality |
| right testis | UBERON:0004534 | 71.83 | gold quality |
| caecum | UBERON:0001153 | 71.75 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 70.81 | gold quality |
| sperm | CL:0000019 | 70.06 | gold quality |
| testis | UBERON:0000473 | 69.61 | gold quality |
| upper lobe of lung | UBERON:0008948 | 68.52 | gold quality |
| gall bladder | UBERON:0002110 | 68.03 | gold quality |
| tonsil | UBERON:0002372 | 67.08 | gold quality |
| rectum | UBERON:0001052 | 64.19 | gold quality |
| colonic epithelium | UBERON:0000397 | 64.10 | silver quality |
| amniotic fluid | UBERON:0000173 | 63.50 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 61.96 | gold quality |
| right lobe of liver | UBERON:0001114 | 61.88 | gold quality |
| lung | UBERON:0002048 | 61.51 | gold quality |
| small intestine | UBERON:0002108 | 61.50 | gold quality |
| omental fat pad | UBERON:0010414 | 61.43 | gold quality |
| peritoneum | UBERON:0002358 | 61.38 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9801 | yes | 6.47 |
| E-ANND-3 | yes | 5.67 |
| E-HCAD-30 | no | 46.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting RGL4, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-1205 | 99.65 | 66.76 | 1826 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-4685-5P | 99.25 | 65.99 | 1563 |
| HSA-MIR-6837-5P | 99.25 | 65.47 | 1632 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-4744 | 99.01 | 69.91 | 1581 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-6776-5P | 98.54 | 67.43 | 1304 |
| HSA-MIR-4252 | 98.45 | 66.37 | 987 |
| HSA-MIR-5585-3P | 98.25 | 67.41 | 941 |
| HSA-MIR-6791-3P | 97.45 | 64.31 | 1123 |
| HSA-MIR-6829-3P | 97.45 | 64.31 | 1137 |
| HSA-MIR-4485-5P | 95.91 | 59.69 | 198 |
Literature-anchored findings (GeneRIF, showing 2)
- Human rgr: transforming activity and alteration in T-cell malignancies [rgr: ralGDS-related] (PMID:12140761)
- Low expression of RGL4 is associated with a poor prognosis and immune infiltration in lung adenocarcinoma patients. (PMID:32259700)
Cross-species orthologs
0 orthologs
Paralogs (24): RASGRF1 (ENSG00000058335), RASGRP2 (ENSG00000068831), RAPGEF3 (ENSG00000079337), RAPGEF4 (ENSG00000091428), SOS2 (ENSG00000100485), RAPGEF1 (ENSG00000107263), RAPGEFL1 (ENSG00000108352), RAPGEF2 (ENSG00000109756), RASGRF2 (ENSG00000113319), SOS1 (ENSG00000115904), RALGPS2 (ENSG00000116191), RAPGEF5 (ENSG00000136237), RALGPS1 (ENSG00000136828), RASGEF1B (ENSG00000138670), RGL1 (ENSG00000143344), RASGEF1C (ENSG00000146090), RASGRP3 (ENSG00000152689), RAPGEF6 (ENSG00000158987), RALGDS (ENSG00000160271), RASGRP4 (ENSG00000171777), RASGRP1 (ENSG00000172575), RASGEF1A (ENSG00000198915), RGL3 (ENSG00000205517), RGL2 (ENSG00000237441)
Protein
Protein identifiers
Ral-GDS-related protein — Q8IZJ4 (reviewed: Q8IZJ4)
Alternative names: Ral guanine nucleotide dissociation stimulator-like 4
All UniProt accessions (7): Q8IZJ4, A0A087WWL2, A0A087X1Z6, B5MCW5, E7EPT8, E9PH21, H7C063
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasmic vesicle.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8IZJ4-1 | 1 | yes |
| Q8IZJ4-2 | 2 |
RefSeq proteins (3): NP_001316353, NP_001316354, NP_705843* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001895 | RASGEF_cat_dom | Domain |
| IPR008937 | Ras-like_GEF | Family |
| IPR023578 | Ras_GEF_dom_sf | Homologous_superfamily |
| IPR036964 | RASGEF_cat_dom_sf | Homologous_superfamily |
Pfam: PF00617
UniProt features (14 total): sequence variant 8, compositionally biased region 2, chain 1, domain 1, region of interest 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8IZJ4-F1 | 62.88 | 0.29 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (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_RAS_PROTEIN_SIGNAL_TRANSDUCTION, 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
GO Biological Process (2): Ras protein signal transduction (GO:0007265), small GTPase-mediated signal transduction (GO:0007264)
GO Molecular Function (1): guanyl-nucleotide exchange factor activity (GO:0005085)
GO Cellular Component (2): plasma membrane (GO:0005886), cytoplasmic vesicle (GO:0031410)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| small GTPase-mediated signal transduction | 1 |
| intracellular signaling cassette | 1 |
| GTP binding | 1 |
| GDP binding | 1 |
| GTPase regulator activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
400 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RGL4 | RALA | P11233 | 844 |
| RGL4 | DRICH1 | Q6PGQ1 | 540 |
| RGL4 | HRAS | P01112 | 529 |
| RGL4 | LRRC75B | Q2VPJ9 | 507 |
| RGL4 | C22orf15 | Q8WYQ4 | 479 |
| RGL4 | ZNF70 | Q9UC06 | 447 |
| RGL4 | RGR | P47804 | 446 |
| RGL4 | SPRING1 | Q9H741 | 415 |
| RGL4 | SOWAHC | Q53LP3 | 397 |
| RGL4 | RASSF9 | O75901 | 396 |
| RGL4 | TM9SF3 | Q9HD45 | 367 |
| RGL4 | F5GXT2 | F5GXT2 | 358 |
| RGL4 | RASSF10 | A6NK89 | 357 |
| RGL4 | GUCD1 | Q96NT3 | 349 |
| RGL4 | F8WDG0 | F8WDG0 | 337 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RGL4 | DCX | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): OCIAD1 (Affinity Capture-MS), DCX (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), RGL4 (Two-hybrid), RGL4 (Affinity Capture-MS), HRAS (Reconstituted Complex), RALA (Reconstituted Complex), RALB (Reconstituted Complex), RAP1A (Reconstituted Complex), RGL4 (Synthetic Lethality), RGL4 (Negative Genetic), DCX (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), RGL4 (Affinity Capture-RNA)
ESM2 similar proteins: A0A494C1R9, A2AKB4, A2APT9, A6NKD2, A8MT33, B0BN44, E9PGG2, F5GYI3, O19110, O88852, P0CV98, P0CV99, P0CW00, P0CW01, Q01534, Q03386, Q0P5N2, Q12967, Q14684, Q2M329, Q3U3N0, Q5F267, Q5I0E2, Q5R5G8, Q5R866, Q5SYB0, Q5VTJ3, Q60953, Q69ZB3, Q6ZUX3, Q7TQI8, Q80VJ8, Q80VR2, Q86VY4, Q8BSI6, Q8IZJ4, Q8N831, Q8VD63, Q95LS7, Q96FG2
Diamond homologs: A2CEA7, A7A0P0, B3LTF3, B5VMS9, C8ZCV7, F1M386, F1MSG6, F1PBJ0, G5EDB9, O14827, O77086, P04821, P0CF32, P0CF33, P0CF34, P27671, P28818, P43069, P70392, Q02342, Q13972, Q54FF3, Q552M5, Q86G47, Q8CHG7, Q8IS18, Q8IS20, Q8IZJ4, Q8TEU7, Q99JE4, Q9Y4G8, A6N9I4, P0C643, Q0VAM2, Q13905, Q1LZ97, Q28EC1, Q54TK8, Q55FD8, Q55GH9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
421 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 258 |
| Likely benign | 122 |
| 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
3832 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:84232904:C:CC | acceptor_gain | 1.0000 |
| 10:84234220:T:TA | donor_gain | 1.0000 |
| 10:84234375:AGCC:A | acceptor_gain | 1.0000 |
| 10:84234376:GCC:G | acceptor_gain | 1.0000 |
| 10:84234377:CCC:C | acceptor_gain | 1.0000 |
| 10:84234379:C:CC | acceptor_gain | 1.0000 |
| 10:84234380:T:A | acceptor_loss | 1.0000 |
| 10:84234387:G:GC | acceptor_gain | 1.0000 |
| 10:84247639:A:G | acceptor_gain | 1.0000 |
| 10:84254324:A:AG | acceptor_gain | 1.0000 |
| 10:84254325:G:GG | acceptor_gain | 1.0000 |
| 10:84254325:GA:G | acceptor_gain | 1.0000 |
| 10:84254440:CCAGG:C | donor_loss | 1.0000 |
| 10:84254443:GGTAA:G | donor_loss | 1.0000 |
| 10:84254444:G:GA | donor_loss | 1.0000 |
| 10:84254445:T:A | donor_loss | 1.0000 |
| 10:84258013:A:G | donor_gain | 1.0000 |
| 10:84258022:G:GG | donor_gain | 1.0000 |
| 22:23692360:T:A | acceptor_gain | 1.0000 |
| 22:23693973:GG:G | donor_gain | 1.0000 |
| 22:23693974:GG:G | donor_gain | 1.0000 |
| 22:23694941:T:TA | acceptor_gain | 1.0000 |
| 22:23694945:CATA:C | acceptor_loss | 1.0000 |
| 22:23694947:T:G | acceptor_gain | 1.0000 |
| 22:23694947:TA:T | acceptor_loss | 1.0000 |
| 22:23694948:A:AG | acceptor_gain | 1.0000 |
| 22:23694948:A:C | acceptor_loss | 1.0000 |
| 22:23694949:G:GG | acceptor_gain | 1.0000 |
| 22:23694949:GC:G | acceptor_gain | 1.0000 |
| 22:23694949:GCA:G | acceptor_gain | 1.0000 |
AlphaMissense
3073 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:23697195:T:C | F396L | 0.956 |
| 22:23697197:T:A | F396L | 0.956 |
| 22:23697197:T:G | F396L | 0.956 |
| 22:23693765:T:C | F235L | 0.939 |
| 22:23693767:C:A | F235L | 0.939 |
| 22:23693767:C:G | F235L | 0.939 |
| 22:23697183:T:C | F392L | 0.936 |
| 22:23697185:C:A | F392L | 0.936 |
| 22:23697185:C:G | F392L | 0.936 |
| 22:23692429:T:C | F92L | 0.900 |
| 22:23692431:C:A | F92L | 0.900 |
| 22:23692431:C:G | F92L | 0.900 |
| 22:23693850:T:A | V263D | 0.899 |
| 22:23693766:T:C | F235S | 0.889 |
| 22:23697178:T:A | V390D | 0.889 |
| 22:23697181:C:A | P391H | 0.887 |
| 22:23698287:T:C | F446L | 0.887 |
| 22:23698289:T:A | F446L | 0.887 |
| 22:23698289:T:G | F446L | 0.887 |
| 22:23692947:T:C | F218L | 0.886 |
| 22:23692949:C:A | F218L | 0.886 |
| 22:23692949:C:G | F218L | 0.886 |
| 22:23698240:T:C | L430P | 0.873 |
| 22:23693957:T:A | W299R | 0.871 |
| 22:23693957:T:C | W299R | 0.871 |
| 22:23694352:C:G | C306W | 0.871 |
| 22:23697180:C:T | P391S | 0.869 |
| 22:23694368:T:C | F312L | 0.866 |
| 22:23694370:C:A | F312L | 0.866 |
| 22:23694370:C:G | F312L | 0.866 |
dbSNP variants (sampled 300 via entrez): RS1000397086 (22:23691627 T>C), RS1000608932 (22:23690629 G>C), RS1000739896 (22:23695445 C>T), RS1000760817 (22:23695102 T>A), RS1000791273 (22:23695615 G>A), RS1001004157 (22:23690610 A>G), RS1001431158 (22:23696959 T>C), RS1001741870 (22:23699446 T>C), RS1001995467 (22:23689165 T>G), RS1002045735 (22:23699265 A>C), RS1002408569 (22:23689428 C>T), RS1002426940 (22:23695957 G>T), RS1002687053 (22:23691690 G>T), RS1002750416 (22:23693075 G>A,C,T), RS1002804458 (22:23693410 C>T)
Disease associations
OMIM: gene MIM:612214 | 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
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003997_33 | Myopia | 6.000000e-19 |
| GCST009962_12 | High myopia | 4.000000e-11 |
| GCST010002_293 | Refractive error | 1.000000e-70 |
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)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs184199168 | Metabolism/PK | 3 | o-desmethyltramadol;tramadol |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs184199168 | RGL4 | 3 | 1.50 | 1 | o-desmethyltramadol;tramadol |
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | increases expression | 1 |
| Norethindrone Acetate | affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | increases mutagenesis | 1 |
| Cisplatin | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Paraquat | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Copper Sulfate | 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 |
| 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 |
Related Atlas pages
- Associated diseases: retinitis pigmentosa 44, retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cone dystrophy, retinitis pigmentosa, retinitis pigmentosa 44