ROM1

Summary

ROM1 (retinal outer segment membrane protein 1, HGNC:10254) is a protein-coding gene on chromosome 11q12.3, encoding Rod outer segment membrane protein 1 (Q03395). Plays a role in rod outer segment (ROS) morphogenesis.

This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa.

Source: NCBI Gene 6094 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa 7 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 391 total
• Phenotypes (HPO): 40
• MANE Select transcript: NM_000327

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10254
Approved symbol	ROM1
Name	retinal outer segment membrane protein 1
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	TSPAN23, ROM
Ensembl gene	ENSG00000149489
Ensembl biotype	protein_coding
OMIM	180721
Entrez	6094

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000278833, ENST00000525801, ENST00000525947, ENST00000529273, ENST00000534093

RefSeq mRNA: 1 — MANE Select: NM_000327 NM_000327

CCDS: CCDS8024

Canonical transcript exons

ENST00000278833 — 3 exons

Exon	Start	End
ENSE00001299795	62614621	62615116
ENSE00001306862	62613257	62613871
ENSE00003619376	62614258	62614504

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 96.98.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2931 / max 393.8089, expressed in 851 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
114716	1.1787	687
114719	0.5930	90
114717	0.2830	116
114718	0.2384	48

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	96.98	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.75	gold quality
spinal cord	UBERON:0002240	91.89	gold quality
amygdala	UBERON:0001876	90.50	gold quality
putamen	UBERON:0001874	88.82	gold quality
caudate nucleus	UBERON:0001873	87.97	gold quality
nucleus accumbens	UBERON:0001882	87.30	gold quality
cingulate cortex	UBERON:0003027	86.84	gold quality
anterior cingulate cortex	UBERON:0009835	86.82	gold quality
descending thoracic aorta	UBERON:0002345	86.41	gold quality
right frontal lobe	UBERON:0002810	85.85	gold quality
thoracic aorta	UBERON:0001515	85.76	gold quality
ascending aorta	UBERON:0001496	85.71	gold quality
substantia nigra	UBERON:0002038	85.16	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.83	gold quality
cerebellar hemisphere	UBERON:0002245	84.42	gold quality
cerebellar cortex	UBERON:0002129	84.31	gold quality
Brodmann (1909) area 9	UBERON:0013540	84.16	gold quality
hypothalamus	UBERON:0001898	84.07	gold quality
midbrain	UBERON:0001891	83.64	gold quality
aorta	UBERON:0000947	83.58	gold quality
Ammon’s horn	UBERON:0001954	83.41	gold quality
peripheral nervous system	UBERON:0000010	82.95	gold quality
tibial nerve	UBERON:0001323	82.95	gold quality
prefrontal cortex	UBERON:0000451	82.81	gold quality
left coronary artery	UBERON:0001626	82.77	gold quality
right ovary	UBERON:0002118	82.68	gold quality
cerebellum	UBERON:0002037	82.67	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.51	gold quality
lower esophagus mucosa	UBERON:0035834	82.37	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	10707.78
E-GEOD-137537	yes	6450.11
E-GEOD-135922	yes	6379.61
E-MTAB-11121	yes	4467.06
E-GEOD-98556	yes	577.63
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting ROM1, 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-4267	99.96	66.53	2368
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-876-3P	98.76	68.23	945
HSA-MIR-26B-3P	98.71	67.49	1102
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-3074-3P	97.83	67.26	922
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-8081	96.42	67.75	738
HSA-MIR-627-5P	95.51	66.80	509
HSA-MIR-6769A-3P	94.91	61.36	412

Literature-anchored findings (GeneRIF, showing 5)

• Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 should be tested for additional mutations in ABCA4 and ROM1, as they may alter the progression of the PRPH2 phenotype. (PMID:20335603)
• ablation of Rom1 results in the conversion of an MD/PD phenotype characterized by cone functional defects and the formation of abnormal Prph2/Rom1 complexes to an RP phenotype characterized by rod-dominant functional defects and reductions in total Prph2 protein. Thus one method by which ROM1 may act as a disease modifier is by contributing to the large variability in PRPH2-associated disease phenotype (PMID:28053051)
• our study unravels unexpected opposing roles of per(WT) and Rom-1 in rod outer segment (OS)targeting of adRP-linked peripherin-2 mutants and suggests a new treatment strategy for the affected individuals. (PMID:28539581)
• The Outer Retinal Membrane Protein 1 Could Inhibit Lung Cancer Progression as a Tumor Suppressor. (PMID:33680068)
• Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease. (PMID:35353811)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rom1a	ENSDARG00000019752
danio_rerio	rom1b	ENSDARG00000026926
mus_musculus	Rom1	ENSMUSG00000071648
rattus_norvegicus	Rom1	ENSRNOG00000019858

Paralogs (32): TSPAN6 (ENSG00000000003), CD9 (ENSG00000010278), TSPAN9 (ENSG00000011105), TSPAN17 (ENSG00000048140), TSPAN32 (ENSG00000064201), CD82 (ENSG00000085117), TSPAN15 (ENSG00000099282), CD37 (ENSG00000104894), UPK1A (ENSG00000105668), TSPAN12 (ENSG00000106025), TSPAN13 (ENSG00000106537), TSPAN14 (ENSG00000108219), CD81 (ENSG00000110651), TSPAN11 (ENSG00000110900), PRPH2 (ENSG00000112619), UPK1B (ENSG00000114638), TSPAN1 (ENSG00000117472), TSPAN8 (ENSG00000127324), TSPAN16 (ENSG00000130167), TSPAN2 (ENSG00000134198), CD63 (ENSG00000135404), TSPAN31 (ENSG00000135452), TSPAN3 (ENSG00000140391), CD53 (ENSG00000143119), TSPAN7 (ENSG00000156298), TSPAN18 (ENSG00000157570), TSPAN33 (ENSG00000158457), TSPAN5 (ENSG00000168785), CD151 (ENSG00000177697), TSPAN10 (ENSG00000182612), TSPAN4 (ENSG00000214063), TSPAN19 (ENSG00000231738)

Protein

Protein identifiers

Rod outer segment membrane protein 1 — Q03395 (reviewed: Q03395)

Alternative names: Tetraspanin-23

All UniProt accessions (4): Q03395, E9PKF5, E9PMR7, E9PS24

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in rod outer segment (ROS) morphogenesis. May play a role with PRPH2 in the maintenance of the structure of ROS curved disks. Plays a role in the organization of the ROS and maintenance of ROS disk diameter. Involved in the maintenance of the retina outer nuclear layer.

Subunit / interactions. Homodimer; disulfide-linked. Forms a homotetramer. Forms a heterotetramer with PRPH2. Homotetramer and heterotetramer core complexes go on to form higher order complexes by formation of intermolecular disulfide bonds. Interacts with STX3. Interacts with SNAP25.

Subcellular location. Photoreceptor inner segment membrane. Photoreceptor outer segment membrane.

Tissue specificity. Retina photoreceptors (at protein level). In rim region of ROS disks.

Disease relevance. Retinitis pigmentosa 7 (RP7) [MIM:608133] 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 may be caused by variants affecting distinct genetic loci, including the gene represented in this entry. A digenic form of retinitis pigmentosa 7 results from a mutation in the PRPH2 gene and a null mutation of the ROM1 gene has been reported.

Similarity. Belongs to the PRPH2/ROM1 family.

RefSeq proteins (1): NP_000318* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000830	Peripherin/rom-1	Family
IPR008952	Tetraspanin_EC2_sf	Homologous_superfamily
IPR018498	Peripherin/rom-1_CS	Conserved_site
IPR018499	Tetraspanin/Peripherin	Family
IPR042026	Peripherin_LEL	Domain

Pfam: PF00335

UniProt features (20 total): sequence variant 9, topological domain 5, transmembrane region 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7ZW1	ELECTRON MICROSCOPY	3.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q03395-F1	86.56	0.63

Antibody-complex structures (SAbDab): 1 — 7ZW1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 249 (showing top): AP1_01, GRUETZMANN_PANCREATIC_CANCER_DN, LFA1_Q6, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, SP3_Q3, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_NEUROGENESIS, GOBP_NEURAL_RETINA_DEVELOPMENT, AP2_Q3, GOLDRATH_ANTIGEN_RESPONSE, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EYE_PHOTORECEPTOR_CELL_DIFFERENTIATION, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP

GO Biological Process (12): cell adhesion (GO:0007155), visual perception (GO:0007601), regulation of gene expression (GO:0010468), photoreceptor cell outer segment organization (GO:0035845), detection of light stimulus involved in visual perception (GO:0050908), protein homooligomerization (GO:0051260), protein heterooligomerization (GO:0051291), camera-type eye photoreceptor cell differentiation (GO:0060219), retina vasculature development in camera-type eye (GO:0061298), protein localization to photoreceptor outer segment (GO:1903546), retina development in camera-type eye (GO:0060041), retina morphogenesis in camera-type eye (GO:0060042)

GO Molecular Function (2): protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), 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	3
protein complex oligomerization	2
retina development in camera-type eye	2
cellular process	1
sensory perception of light stimulus	1
gene expression	1
regulation of macromolecule biosynthetic process	1
cellular component organization	1
photoreceptor cell development	1
visual perception	1
detection of light stimulus involved in sensory perception	1
eye photoreceptor cell differentiation	1
neural retina development	1
retina morphogenesis in camera-type eye	1
vasculature development	1
protein localization to non-motile cilium	1
camera-type eye development	1
anatomical structure development	1
anatomical structure morphogenesis	1
camera-type eye morphogenesis	1
identical protein binding	1
protein dimerization activity	1
binding	1
membrane	1
cell periphery	1
photoreceptor outer segment	1
ciliary membrane	1
photoreceptor cell cilium	1

Protein interactions and networks

STRING

1121 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ROM1	PRPH2	P23942	949
ROM1	CNGB1	Q14028	851
ROM1	RHO	P08100	832
ROM1	PYGM	P11217	786
ROM1	FSCN2	O14926	781
ROM1	SCGB1A1	P11684	773
ROM1	CNGA1	P29973	769
ROM1	COX8A	P10176	767
ROM1	PLCB3	Q01970	767
ROM1	AHNAK	Q09666	767
ROM1	SF1	Q15637	767
ROM1	FKBP2	P26885	766
ROM1	FTH1	P02794	765
ROM1	MAP3K11	Q16584	765
ROM1	PDE6A	P16499	764
ROM1	CAPN1	P07384	764

IntAct

12 interactions, top by confidence:

A	B	Type	Score
MYG1	ROM1	psi-mi:“MI:0915”(physical association)	0.560
CYP4F2	ROM1	psi-mi:“MI:0915”(physical association)	0.560
ROM1	MYG1	psi-mi:“MI:0915”(physical association)	0.560
ROM1	ORMDL3	psi-mi:“MI:0915”(physical association)	0.560
ROM1	SPTLC2	psi-mi:“MI:0915”(physical association)	0.400
PHGDH	ROM1	psi-mi:“MI:0914”(association)	0.350
ORMDL3	ROM1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (5): SPTLC2 (Affinity Capture-MS), ORMDL3 (Two-hybrid), ROM1 (Affinity Capture-MS), ROM1 (Affinity Capture-Luminescence), ROM1 (Affinity Capture-MS)

ESM2 similar proteins: A0PJX8, A4IFG4, A5D7M7, A6NKF7, A7MBM2, E9PY61, J3QMI4, L5KLU7, O70491, Q03395, Q08E36, Q0V8E7, Q0VD38, Q1KZG0, Q2KJ98, Q3SWY4, Q3TYP4, Q49LS1, Q4QR83, Q53RY4, Q5GH56, Q5GH64, Q5GH72, Q5R7B4, Q5T1A1, Q5XK03, Q66K66, Q674R7, Q6EBV9, Q6GQT5, Q6P5W5, Q6PEY1, Q6PRD1, Q80WF4, Q80ZU9, Q86XJ0, Q8BG75, Q8K177, Q8N144, Q8N4L1

Diamond homologs: O42281, O42282, O42581, O42582, O42583, P15499, P17438, P17810, P23942, P32958, P35906, P52204, P52205, Q03395, Q5PPM7, Q9QZA6, Q3ZBH3, O95858, P48509, P61170, P61171, A1L157, B5X3I6, O14817, O35566, O43657, O60636, O70401, P08962, P19397, P21926, P24485, P30409, P30932, P31053, P40239, P40240, P40241, P41732, Q0VC33

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	256
Likely benign	100
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

932 predictions. Top by Δscore:

Variant	Effect	Δscore
11:62611842:G:GT	donor_gain	1.0000
11:62611852:G:GT	donor_gain	0.9900
11:62611983:C:G	donor_gain	0.9900
11:62612430:ACTC:A	donor_loss	0.9900
11:62612432:TCA:T	donor_loss	0.9900
11:62612433:CAC:C	donor_loss	0.9900
11:62612434:A:AC	donor_gain	0.9900
11:62612434:A:C	donor_loss	0.9900
11:62612435:C:CC	donor_gain	0.9900
11:62612435:CCGGG:C	donor_gain	0.9900
11:62612675:T:A	donor_gain	0.9900
11:62612771:G:GT	donor_gain	0.9900
11:62613417:C:G	donor_gain	0.9900
11:62614256:A:AG	acceptor_gain	0.9900
11:62614256:AGCC:A	acceptor_gain	0.9900
11:62614256:AGCCG:A	acceptor_gain	0.9900
11:62614257:G:GG	acceptor_gain	0.9900
11:62614257:GCC:G	acceptor_gain	0.9900
11:62614257:GCCG:G	acceptor_gain	0.9900
11:62614257:GCCGG:G	acceptor_gain	0.9900
11:62614319:A:AG	acceptor_gain	0.9900
11:62614503:AGGT:A	donor_loss	0.9900
11:62614505:GTGA:G	donor_loss	0.9900
11:62614506:T:A	donor_loss	0.9900
11:62611842:G:T	donor_gain	0.9800
11:62612428:GTAC:G	donor_loss	0.9800
11:62612429:TACT:T	donor_loss	0.9800
11:62612497:GCGTC:G	donor_gain	0.9800
11:62614320:A:G	acceptor_gain	0.9800
11:62614253:TGCA:T	acceptor_loss	0.9700

AlphaMissense

2197 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62613827:G:C	W182C	0.997
11:62613827:G:T	W182C	0.997
11:62613812:G:C	W177C	0.992
11:62613812:G:T	W177C	0.992
11:62614307:T:C	F214L	0.989
11:62614309:C:A	F214L	0.989
11:62614309:C:G	F214L	0.989
11:62613749:A:C	K156N	0.987
11:62613749:A:T	K156N	0.987
11:62613825:T:A	W182R	0.985
11:62613825:T:C	W182R	0.985
11:62613748:A:T	K156I	0.980
11:62614308:T:G	F214C	0.979
11:62613813:T:C	F178L	0.977
11:62613815:T:A	F178L	0.977
11:62613815:T:G	F178L	0.977
11:62613810:T:A	W177R	0.975
11:62613810:T:C	W177R	0.975
11:62613814:T:G	F178C	0.975
11:62614316:T:A	C217S	0.975
11:62614317:G:C	C217S	0.975
11:62614313:T:A	C216S	0.971
11:62614314:G:C	C216S	0.971
11:62614340:T:A	C225S	0.968
11:62614341:G:C	C225S	0.968
11:62614424:T:A	C253S	0.967
11:62614425:G:C	C253S	0.967
11:62613760:A:T	D160V	0.965
11:62614314:G:A	C216Y	0.963
11:62614317:G:A	C217Y	0.962

dbSNP variants (sampled 300 via entrez): RS1000181003 (11:62611738 G>A,T), RS1000966390 (11:62613557 A>G,T), RS1000979000 (11:62615308 T>C,G), RS1001406401 (11:62612805 C>T), RS1001873884 (11:62612623 G>A), RS1001922183 (11:62615238 C>G), RS1002271199 (11:62614980 G>C), RS1002478260 (11:62613593 G>A,T), RS1003399067 (11:62615146 G>A), RS1004498953 (11:62612857 G>A,C), RS1004760890 (11:62613017 C>T), RS1005326614 (11:62614931 A>G), RS1007181315 (11:62614409 C>A), RS1008714642 (11:62612173 G>A), RS1009109239 (11:62612070 A>G,T)

Disease associations

OMIM: gene MIM:180721 | disease phenotypes: MIM:608133, MIM:268000

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa 7	Strong	Autosomal dominant
retinitis pigmentosa	Supportive	Autosomal dominant

Mondo (5): retinitis pigmentosa 7 (MONDO:0011974), retinitis pigmentosa 7, digenic (MONDO:1060144), inherited retinal dystrophy (MONDO:0019118), retinitis pigmentosa (MONDO:0019200), optic atrophy (MONDO:0003608)

Orphanet (2): Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

40 total (30 of 40 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:0000533	Chorioretinal atrophy
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000580	Pigmentary retinopathy
HP:0000602	Ophthalmoplegia
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000662	Nyctalopia
HP:0000842	Hyperinsulinemia
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0001419	X-linked recessive inheritance
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:0007830	Adult-onset night blindness

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005956_12	Waist-to-hip ratio adjusted for BMI	2.000000e-06
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07
GCST007018_20	Serum bilirubin levels in metabolic syndrome	1.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004570	bilirubin measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
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

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, increases abundance	2
Valproic Acid	affects cotreatment, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
bisphenol F	affects cotreatment, increases expression	1
bisphenol A	increases expression	1
bicalutamide	increases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Atrazine	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Estradiol	increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Phenobarbital	affects expression	1
Smoke	decreases expression	1
Testosterone	increases expression, affects cotreatment	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Raloxifene Hydrochloride	increases expression	1
Vitamin K 3	affects 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