PRCD
geneOn this page
Also known as RP36
Summary
PRCD (photoreceptor disc component, HGNC:32528) is a protein-coding gene on chromosome 17q25.1, encoding Photoreceptor disk component PRCD (Q00LT1). Involved in vision.
This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 768206 — RefSeq curated summary.
At a glance
- Gene–disease (curated): retinitis pigmentosa 36 (Definitive, GenCC) — +1 more curated relationship
- GWAS associations: 2
- Clinical variants (ClinVar): 33 total — 3 pathogenic
- Phenotypes (HPO): 35
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
- MANE Select transcript:
NM_001077620
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32528 |
| Approved symbol | PRCD |
| Name | photoreceptor disc component |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RP36 |
| Ensembl gene | ENSG00000214140 |
| Ensembl biotype | protein_coding |
| OMIM | 610598 |
| Entrez | 768206 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 10 protein_coding_CDS_not_defined, 2 protein_coding, 1 retained_intron
ENST00000397630, ENST00000397633, ENST00000465808, ENST00000586148, ENST00000587063, ENST00000587289, ENST00000587813, ENST00000590555, ENST00000591317, ENST00000592014, ENST00000592340, ENST00000592432, ENST00000593023
RefSeq mRNA: 1 — MANE Select: NM_001077620
NM_001077620
CCDS: CCDS42382
Canonical transcript exons
ENST00000592014 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001529466 | 76543803 | 76545376 |
| ENSE00001649319 | 76540044 | 76540215 |
| ENSE00002838652 | 76543029 | 76543121 |
| ENSE00003560166 | 76542553 | 76542633 |
| ENSE00003582824 | 76540505 | 76540573 |
Expression profiles
Bgee: expression breadth ubiquitous, 196 present calls, max score 95.15.
FANTOM5 (CAGE): breadth broad, TPM avg 5.0495 / max 5210.3187, expressed in 271 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 162865 | 1.8964 | 109 |
| 162866 | 1.8766 | 112 |
| 162864 | 0.6390 | 92 |
| 162856 | 0.3894 | 14 |
| 162855 | 0.0740 | 23 |
| 162862 | 0.0555 | 27 |
| 162859 | 0.0400 | 6 |
| 162863 | 0.0284 | 14 |
| 162857 | 0.0232 | 6 |
| 162858 | 0.0171 | 6 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.15 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.74 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.51 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.35 | gold quality |
| cerebellum | UBERON:0002037 | 92.98 | gold quality |
| spinal cord | UBERON:0002240 | 92.26 | gold quality |
| substantia nigra | UBERON:0002038 | 86.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.22 | gold quality |
| midbrain | UBERON:0001891 | 85.25 | gold quality |
| hypothalamus | UBERON:0001898 | 85.02 | gold quality |
| right atrium auricular region | UBERON:0006631 | 84.15 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 84.12 | silver quality |
| endocervix | UBERON:0000458 | 84.07 | gold quality |
| right frontal lobe | UBERON:0002810 | 83.88 | gold quality |
| cardiac atrium | UBERON:0002081 | 83.70 | gold quality |
| corpus callosum | UBERON:0002336 | 83.28 | gold quality |
| spleen | UBERON:0002106 | 82.67 | gold quality |
| apex of heart | UBERON:0002098 | 82.23 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 82.07 | gold quality |
| putamen | UBERON:0001874 | 82.06 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.05 | gold quality |
| Ammon’s horn | UBERON:0001954 | 81.96 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 81.86 | gold quality |
| amygdala | UBERON:0001876 | 81.75 | gold quality |
| omental fat pad | UBERON:0010414 | 81.70 | gold quality |
| peritoneum | UBERON:0002358 | 81.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 81.37 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.36 | gold quality |
| ectocervix | UBERON:0012249 | 81.29 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 61.35 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting PRCD, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-22-3P | 99.93 | 68.13 | 917 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-646 | 99.68 | 67.84 | 1645 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-1260A | 99.61 | 66.67 | 1098 |
| HSA-MIR-1260B | 99.61 | 66.67 | 1098 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-6733-3P | 99.54 | 67.80 | 1281 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-4478 | 99.07 | 65.16 | 2320 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-6876-3P | 98.97 | 65.69 | 765 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4711-5P | 98.89 | 68.00 | 965 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 3)
- The identification of a second pathogenic mutation of PRCD in multiple retinitis pigmentosa (RP) patients confirms the role of PRCD in the aetiology of RP in humans. (PMID:20507925)
- The identification of a third mutation in PRCD confirms its role in the pathogenesis of retinitis pigmentosa. (PMID:23805042)
- Disrupting PRCD palmitoylation eliminating the modified cysteine dramatically affects the stability of PRCD. (PMID:27613864)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Prcd | ENSMUSG00000075410 |
| rattus_norvegicus | Prcd | ENSRNOG00000090755 |
Protein
Protein identifiers
Photoreceptor disk component PRCD — Q00LT1 (reviewed: Q00LT1)
Alternative names: Progressive rod-cone degeneration protein
All UniProt accessions (1): Q00LT1
UniProt curated annotations — full annotation on UniProt →
Function. Involved in vision.
Subunit / interactions. Interacts with RHO/rhodopsin; the interaction promotes PRCD stability.
Subcellular location. Cell projection. Cilium. Photoreceptor outer segment. Membrane. Endoplasmic reticulum. Golgi apparatus.
Post-translational modifications. Palmitoylated at Cys-2. Palmitoylation is essential for protein stability and trafficking to the photoreceptor outer segment, but does not appear to be essential for membrane localization. Probably palmitoylated by ZDHHC3. Phosphorylated.
Disease relevance. Retinitis pigmentosa 36 (RP36) [MIM:610599] 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 PRCD family.
RefSeq proteins (1): NP_001071088* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027937 | PRCD | Family |
Pfam: PF15201
UniProt features (7 total): sequence variant 4, chain 1, region of interest 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00LT1-F1 | 65.20 | 0.09 |
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): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 115 (showing top):
GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_DETECTION_OF_LIGHT_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION, GOCC_NEURON_PROJECTION, GOBP_RESPONSE_TO_LIGHT_STIMULUS, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_PHOTORECEPTOR_OUTER_SEGMENT_MEMBRANE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_CILIARY_MEMBRANE, GOCC_CILIUM
GO Biological Process (2): detection of light stimulus involved in visual perception (GO:0050908), visual perception (GO:0007601)
GO Molecular Function (1): opsin binding (GO:0002046)
GO Cellular Component (8): extracellular region (GO:0005576), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), photoreceptor outer segment membrane (GO:0042622), photoreceptor outer segment (GO:0001750), membrane (GO:0016020), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cytoplasm | 2 |
| endomembrane system | 2 |
| intracellular membrane-bounded organelle | 2 |
| visual perception | 1 |
| detection of light stimulus involved in sensory perception | 1 |
| sensory perception of light stimulus | 1 |
| protein binding | 1 |
| intracellular anatomical structure | 1 |
| photoreceptor outer segment | 1 |
| ciliary membrane | 1 |
| photoreceptor cell cilium | 1 |
Protein interactions and networks
STRING
422 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PRCD | GUCA1B | Q9UMX6 | 884 |
| PRCD | PCARE | A6NGG8 | 832 |
| PRCD | IMPG2 | Q9BZV3 | 819 |
| PRCD | PDE6A | P16499 | 816 |
| PRCD | CNGB1 | Q14028 | 811 |
| PRCD | ZNF513 | Q8N8E2 | 806 |
| PRCD | CERKL | Q49MI3 | 800 |
| PRCD | EYS | Q5T1H1 | 800 |
| PRCD | IDH3B | O43837 | 781 |
| PRCD | PDE6G | P18545 | 779 |
| PRCD | TULP1 | O00294 | 777 |
| PRCD | CNGA1 | P29973 | 774 |
| PRCD | RPE65 | Q16518 | 754 |
| PRCD | RHO | P08100 | 754 |
| PRCD | PDE6B | P35913 | 751 |
IntAct
0 interactions, top by confidence:
BioGRID (3): PRCD (Affinity Capture-MS), PRCD (Cross-Linking-MS (XL-MS)), PRCD (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A023IWE0, A0A023IWE1, A0A023IWG1, A0A023IWG2, A0A023IWI8, A0A023IWK3, A0A023IWK5, A0A023IWM4, A0QRX8, A2BT05, A2BYF5, A2C4H7, A2SSV2, A8W7M6, A8W7N1, A8W7N4, A8W7N6, A8W7N7, A8W7P3, A9ILJ1, B0R4Y7, P08229, P0CU65, P0DKH4, P10217, P11925, P22660, P24111, P55358, P55536, P55671, P81080, P84546, P9WL08, P9WL09, Q00LT1, Q00LT2, Q00LT9, Q03284, Q09T02
Diamond homologs: E1B7R9, Q00LT1, Q00LT2, Q00LT9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3243136 | NC_000017.10:g.(?74536224)(74538656_?)del | Pathogenic |
| 37041 | NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter) | Pathogenic |
| 987020 | NM_001077620.3(PRCD):c.52C>T (p.Arg18Ter) | Pathogenic |
SpliceAI
1277 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:76530972:T:TA | donor_gain | 1.0000 |
| 17:76530977:A:AC | donor_gain | 1.0000 |
| 17:76530978:C:CC | donor_gain | 1.0000 |
| 17:76531015:T:TA | donor_gain | 1.0000 |
| 17:76531016:C:A | donor_gain | 1.0000 |
| 17:76531142:TC:T | acceptor_loss | 1.0000 |
| 17:76531143:C:CA | acceptor_loss | 1.0000 |
| 17:76531143:C:CC | acceptor_gain | 1.0000 |
| 17:76531144:T:G | acceptor_loss | 1.0000 |
| 17:76531687:AGAAC:A | acceptor_gain | 1.0000 |
| 17:76531688:GAAC:G | acceptor_gain | 1.0000 |
| 17:76531690:AC:A | acceptor_gain | 1.0000 |
| 17:76531691:CC:C | acceptor_gain | 1.0000 |
| 17:76531692:C:CA | acceptor_loss | 1.0000 |
| 17:76531692:C:CC | acceptor_gain | 1.0000 |
| 17:76531693:T:A | acceptor_loss | 1.0000 |
| 17:76531696:C:CT | acceptor_gain | 1.0000 |
| 17:76540216:G:GG | donor_gain | 1.0000 |
| 17:76530974:CTCAC:C | donor_loss | 0.9900 |
| 17:76530975:TCACG:T | donor_loss | 0.9900 |
| 17:76530976:CACG:C | donor_loss | 0.9900 |
| 17:76530977:A:G | donor_loss | 0.9900 |
| 17:76530978:C:G | donor_loss | 0.9900 |
| 17:76531012:ACTT:A | donor_gain | 0.9900 |
| 17:76531013:CTTC:C | donor_gain | 0.9900 |
| 17:76531138:AGGAT:A | acceptor_gain | 0.9900 |
| 17:76531139:GGAT:G | acceptor_gain | 0.9900 |
| 17:76531150:C:CT | acceptor_gain | 0.9900 |
| 17:76531477:C:CT | donor_gain | 0.9900 |
| 17:76531478:C:CT | donor_gain | 0.9900 |
AlphaMissense
345 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:76540166:A:C | S9R | 0.988 |
| 17:76540168:C:A | S9R | 0.988 |
| 17:76540168:C:G | S9R | 0.988 |
| 17:76540145:T:C | C2R | 0.965 |
| 17:76540176:C:A | A12D | 0.961 |
| 17:76540161:T:G | L7R | 0.947 |
| 17:76540164:T:A | L8H | 0.946 |
| 17:76540161:T:A | L7Q | 0.934 |
| 17:76540164:T:G | L8R | 0.930 |
| 17:76540152:C:A | T4N | 0.911 |
| 17:76540147:C:G | C2W | 0.907 |
| 17:76540187:C:A | R16S | 0.898 |
| 17:76540152:C:T | T4I | 0.896 |
| 17:76540173:T:G | L11R | 0.893 |
| 17:76540146:G:A | C2Y | 0.883 |
| 17:76540149:C:A | T3N | 0.880 |
| 17:76540149:C:T | T3I | 0.876 |
| 17:76540158:T:C | F6S | 0.875 |
| 17:76540161:T:C | L7P | 0.872 |
| 17:76540155:T:A | L5H | 0.867 |
| 17:76540173:T:A | L11Q | 0.856 |
| 17:76540188:G:C | R16P | 0.840 |
| 17:76540155:T:G | L5R | 0.838 |
| 17:76540167:G:A | S9N | 0.837 |
| 17:76540196:T:C | F19L | 0.834 |
| 17:76540198:T:A | F19L | 0.834 |
| 17:76540198:T:G | F19L | 0.834 |
| 17:76540173:T:C | L11P | 0.822 |
| 17:76540164:T:C | L8P | 0.814 |
| 17:76540184:T:A | W15R | 0.814 |
dbSNP variants (sampled 300 via entrez): RS1000024337 (17:76528830 G>C,T), RS1000033374 (17:76530597 GGGA>G), RS1000106451 (17:76530842 A>G), RS1000308964 (17:76527670 G>A,C), RS1000313371 (17:76536586 G>C,T), RS1000344192 (17:76541620 G>T), RS1000483914 (17:76542941 G>A,T), RS1000577548 (17:76547315 G>C), RS1000685078 (17:76536252 A>C), RS1000688015 (17:76552030 T>G), RS1000711510 (17:76548661 T>C), RS1000779083 (17:76550153 A>C,G), RS1000905016 (17:76546982 G>A), RS1000985664 (17:76536277 C>A,G,T), RS1001058093 (17:76526476 C>T)
Disease associations
OMIM: gene MIM:610598 | disease phenotypes: MIM:268000, MIM:610599
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa 36 | Definitive | Autosomal recessive |
| retinitis pigmentosa | Supportive | Autosomal dominant |
Mondo (3): inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), retinitis pigmentosa 36 (MONDO:0012523)
Orphanet (2): OBSOLETE: Inherited retinal disorder (Orphanet:71862), Retinitis pigmentosa (Orphanet:791)
HPO phenotypes
35 total (30 of 35 shown, HPO-id order):
| HPO | Term |
|---|---|
| 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:0000550 | Undetectable electroretinogram |
| HP:0000551 | Color vision defect |
| HP:0000563 | Keratoconus |
| HP:0000602 | Ophthalmoplegia |
| HP:0000608 | Macular degeneration |
| 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: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 |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007021_2 | Type 2 diabetes nephropathy | 1.000000e-06 |
| GCST007022_4 | Type 2 diabetes nephropathy including microalbuminuria | 1.000000e-06 |
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
| C566431 | Retinitis Pigmentosa 36 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| ferrous chloride | decreases expression | 1 |
| nutlin 3 | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dactinomycin | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Antirheumatic Agents | 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 36, retinitis pigmentosa 1
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): diabetic kidney disease, retinitis pigmentosa, retinitis pigmentosa 36