YPEL2

gene
On this page

Also known as FKSG4

Summary

YPEL2 (yippee like 2, HGNC:18326) is a protein-coding gene on chromosome 17q22, encoding Protein yippee-like 2 (Q96QA6).

Predicted to enable metal ion binding activity. Predicted to be located in nucleolus.

Source: NCBI Gene 388403 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): retinitis pigmentosa (Limited, GenCC)
  • GWAS associations: 26
  • Clinical variants (ClinVar): 9 total
  • MANE Select transcript: NM_001005404

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18326
Approved symbolYPEL2
Nameyippee like 2
Location17q22
Locus typegene with protein product
StatusApproved
AliasesFKSG4
Ensembl geneENSG00000175155
Ensembl biotypeprotein_coding
OMIM609723
Entrez388403

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000312655, ENST00000581865, ENST00000582192, ENST00000582813, ENST00000585166, ENST00000672916

RefSeq mRNA: 1 — MANE Select: NM_001005404 NM_001005404

CCDS: CCDS32695

Canonical transcript exons

ENST00000312655 — 5 exons

ExonStartEnd
ENSE000012076785939710159401729
ENSE000013240835935321559353526
ENSE000026917725933165559331824
ENSE000035414145938832759388370
ENSE000036878875938936059389468

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.9234 / max 196.1027, expressed in 1679 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
16195410.47551646
1619553.2728845
1619531.1751548

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207999.26gold quality
endothelial cellCL:000011597.59gold quality
oviduct epitheliumUBERON:000480497.22gold quality
tibialis anteriorUBERON:000138596.34gold quality
inferior vagus X ganglionUBERON:000536395.52gold quality
amniotic fluidUBERON:000017395.51gold quality
saphenous veinUBERON:000731895.46gold quality
corpus callosumUBERON:000233695.15gold quality
deltoidUBERON:000147694.81gold quality
cardiac muscle of right atriumUBERON:000337994.79gold quality
vena cavaUBERON:000408794.73gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451194.50gold quality
subthalamic nucleusUBERON:000190694.43gold quality
Brodmann (1909) area 46UBERON:000648394.36gold quality
left ventricle myocardiumUBERON:000656694.05gold quality
medulla oblongataUBERON:000189693.83gold quality
calcaneal tendonUBERON:000370193.66gold quality
substantia nigra pars reticulataUBERON:000196693.59gold quality
substantia nigra pars compactaUBERON:000196593.56gold quality
ileal mucosaUBERON:000033193.50gold quality
dorsal plus ventral thalamusUBERON:000189793.50gold quality
superior vestibular nucleusUBERON:000722793.43gold quality
germinal epithelium of ovaryUBERON:000130493.34gold quality
vastus lateralisUBERON:000137993.23gold quality
trigeminal ganglionUBERON:000167593.20gold quality
buccal mucosa cellCL:000233693.11gold quality
oocyteCL:000002392.92gold quality
layer of synovial tissueUBERON:000761692.88gold quality
ventral tegmental areaUBERON:000269192.77gold quality
dorsal root ganglionUBERON:000004492.72gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-MTAB-10018yes171.44
E-MTAB-7316yes31.11
E-GEOD-137537yes31.05
E-ANND-3yes15.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

274 targeting YPEL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-656-3P100.0072.152788
HSA-MIR-432-3P100.0067.86705
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-9-5P100.0072.282361
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-5196-5P100.0067.982761
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4747-5P100.0067.902681
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-29A-3P100.0073.111835
HSA-MIR-29B-3P100.0073.181833
HSA-MIR-29C-3P100.0073.151833
HSA-MIR-126-5P100.0072.713180
HSA-MIR-8485100.0077.574731
HSA-MIR-1193100.0065.93529
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913

Literature-anchored findings (GeneRIF, showing 2)

  • Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. (PMID:33022222)
  • A novel role for YPEL2 in mediating endothelial cellular senescence via the p53/p21 pathway. (PMID:36963468)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioypel2bENSDARG00000087258
mus_musculusYpel2ENSMUSG00000018427
rattus_norvegicusYpel2ENSRNOG00000005447
drosophila_melanogasterYpelFBGN0030183

Paralogs (10): L2HGDH (ENSG00000087299), YPEL3 (ENSG00000090238), PDPR (ENSG00000090857), YPEL1 (ENSG00000100027), FOXRED1 (ENSG00000110074), YPEL5 (ENSG00000119801), SARDH (ENSG00000123453), DMGDH (ENSG00000132837), AMT (ENSG00000145020), YPEL4 (ENSG00000166793)

Protein

Protein identifiers

Protein yippee-like 2Q96QA6 (reviewed: Q96QA6)

All UniProt accessions (2): A0A5F9ZH55, Q96QA6

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. May interact with FAM168B.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Widely expressed. Detected in fetal and adult kidney, heart, liver, lung and skeletal muscle.

Similarity. Belongs to the yippee family.

RefSeq proteins (1): NP_001005404* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004910Yippee/Mis18/CereblonDomain
IPR034751YippeeDomain
IPR039058Yippee_famFamily

Pfam: PF03226

UniProt features (6 total): binding site 4, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96QA6-F191.140.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 23; 26; 79; 82

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 226 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, ATACCTC_MIR202, GOZGIT_ESR1_TARGETS_DN, ODONNELL_TARGETS_OF_MYC_AND_TFRC_UP, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, ACATTCC_MIR1_MIR206, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, YAMAZAKI_TCEB3_TARGETS_UP, CTTTGTA_MIR524, NIKOLSKY_BREAST_CANCER_17Q21_Q25_AMPLICON, chr17q22, AACATTC_MIR4093P, GOCC_NUCLEOLUS, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, DODD_NASOPHARYNGEAL_CARCINOMA_DN

GO Biological Process (0):

GO Molecular Function (2): metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (2): nucleolus (GO:0005730), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cation binding1
binding1
nuclear lumen1
intracellular membraneless organelle1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

524 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
YPEL2DHX40Q8IX18629
YPEL2CHCT1Q86WR6409
YPEL2TUBD1Q9UJT1397
YPEL2ZBTB44Q8NCP5380
YPEL2RNFT1Q5M7Z0374
YPEL2KLHL24Q6TFL4372
YPEL2USP32Q8NFA0369
YPEL2APPBP2Q92624361
YPEL2MOSMOQ8NHV5359
YPEL2ZNF846Q147U1358
YPEL2C1orf226A1L170356
YPEL2NBEAL1Q6ZS30352
YPEL2PLCXD2Q0VAA5349
YPEL2TEX14Q8IWB6348
YPEL2PTRH2Q9Y3E5348

IntAct

10 interactions, top by confidence:

ABTypeScore
SH2D4AYPEL2psi-mi:“MI:0915”(physical association)0.560
PICK1YPEL2psi-mi:“MI:0915”(physical association)0.560
YPEL2SH2D4Apsi-mi:“MI:0915”(physical association)0.560
SRPK2YPEL2psi-mi:“MI:0217”(phosphorylation reaction)0.440
YPEL2SRPK1psi-mi:“MI:0217”(phosphorylation reaction)0.440
YPEL2Fam168bpsi-mi:“MI:0915”(physical association)0.370
YPEL2PICK1psi-mi:“MI:0915”(physical association)0.000

BioGRID (6): YPEL2 (Affinity Capture-RNA), YPEL2 (Two-hybrid), YPEL2 (Two-hybrid), YPEL2 (Affinity Capture-RNA), YPEL2 (Biochemical Activity), YPEL2 (Biochemical Activity)

ESM2 similar proteins: A2VE01, A6QPH8, D3ZRP6, O60688, P00860, P11926, P27117, P27118, P27119, P27120, P48455, P61236, P61237, Q16HW7, Q1RMS5, Q24208, Q2YDI3, Q3SYW1, Q5EBF1, Q5PQL4, Q5RDN9, Q5VST6, Q5XID5, Q5ZIZ4, Q5ZJ01, Q65Z54, Q65Z56, Q65Z57, Q65Z58, Q65Z59, Q65Z93, Q65Z95, Q6AY17, Q6DCC5, Q6DEY3, Q6DKB0, Q6NWI4, Q7M759, Q8L5V0, Q96NS1

Diamond homologs: A6QPH8, O44440, O60688, P38191, P59234, P61236, P61237, P62699, P62700, Q2V3E2, Q2YDI3, Q3ZBE7, Q4R4Q6, Q5RDN9, Q5RDU7, Q5XID5, Q65Z54, Q65Z55, Q65Z56, Q65Z57, Q65Z58, Q65Z59, Q65Z93, Q65Z95, Q6NWI4, Q8S5M8, Q96NS1, Q96QA6, Q9C777, Q9DG42, Q9ESC7, Q9FN32, Q9LY56, Q9SR97, Q9T096, Q9U3G6, Q9URW3, Q9W2X7, Q9XZF0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance3
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1239 predictions. Top by Δscore:

VariantEffectΔscore
17:59331820:GCCGG:Gdonor_gain1.0000
17:59331822:CGGG:Cdonor_loss1.0000
17:59331823:GG:Gdonor_gain1.0000
17:59331823:GGGTA:Gdonor_loss1.0000
17:59331824:GG:Gdonor_gain1.0000
17:59331824:GGT:Gdonor_loss1.0000
17:59331825:G:GGdonor_gain1.0000
17:59331825:GTA:Gdonor_loss1.0000
17:59331826:T:Gdonor_loss1.0000
17:59388321:T:Gacceptor_gain1.0000
17:59388325:A:AGacceptor_gain1.0000
17:59388326:G:GAacceptor_gain1.0000
17:59388326:GTC:Gacceptor_gain1.0000
17:59388369:GT:Gdonor_gain1.0000
17:59388371:G:GGdonor_gain1.0000
17:59389345:T:Aacceptor_gain1.0000
17:59389345:T:TAacceptor_loss1.0000
17:59389347:T:TAacceptor_gain1.0000
17:59389352:C:Aacceptor_gain1.0000
17:59389356:ATAG:Aacceptor_loss1.0000
17:59389357:T:Gacceptor_gain1.0000
17:59389358:A:AGacceptor_gain1.0000
17:59389359:G:GAacceptor_gain1.0000
17:59389359:GA:Gacceptor_gain1.0000
17:59389359:GAGT:Gacceptor_gain1.0000
17:59389359:GAGTT:Gacceptor_gain1.0000
17:59389464:AATAC:Adonor_gain1.0000
17:59389465:ATAC:Adonor_gain1.0000
17:59389465:ATACG:Adonor_loss1.0000
17:59389466:TAC:Tdonor_gain1.0000

AlphaMissense

778 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:59353476:T:CC23R1.000
17:59353477:G:AC23Y1.000
17:59353478:C:GC23W1.000
17:59353485:T:CC26R1.000
17:59353486:G:AC26Y1.000
17:59353487:C:GC26W1.000
17:59353516:T:CL36P1.000
17:59353521:T:CS38P1.000
17:59353522:C:TS38F1.000
17:59388330:T:AF41I1.000
17:59388330:T:CF41L1.000
17:59388330:T:GF41V1.000
17:59388331:T:CF41S1.000
17:59388331:T:GF41C1.000
17:59388332:C:AF41L1.000
17:59388332:C:GF41L1.000
17:59388336:G:AG43R1.000
17:59388336:G:CG43R1.000
17:59388337:G:AG43E1.000
17:59388345:G:AG46R1.000
17:59388345:G:CG46R1.000
17:59388346:G:AG46E1.000
17:59388346:G:TG46V1.000
17:59388352:C:AA48E1.000
17:59388358:T:AL50H1.000
17:59388358:T:CL50P1.000
17:59389366:T:AN56K1.000
17:59389366:T:GN56K1.000
17:59389392:G:CR65P1.000
17:59389398:T:CL67S1.000

dbSNP variants (sampled 300 via entrez): RS1000037500 (17:59332237 C>T), RS1000040539 (17:59377983 A>G), RS1000054745 (17:59391940 G>A), RS1000070867 (17:59400726 G>A), RS1000084767 (17:59376449 C>A,G), RS1000164509 (17:59329821 A>G), RS1000166679 (17:59382988 T>C), RS1000190729 (17:59332172 G>A), RS1000193370 (17:59368583 A>G), RS1000200093 (17:59337403 A>T), RS1000219339 (17:59368149 T>C), RS1000283288 (17:59367743 A>T), RS1000341844 (17:59395676 T>C), RS1000345463 (17:59334962 G>T), RS1000349839 (17:59386086 G>A)

Disease associations

OMIM: gene MIM:609723 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
retinitis pigmentosaLimitedAutosomal dominant

Mondo (1): retinitis pigmentosa (MONDO:0019200)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

26 associations (top):

StudyTraitp-value
GCST002500_45QT interval8.000000e-06
GCST008514_27Peginterferon alfa-2a treatment response in chronic hepatitis B infection5.000000e-06
GCST010002_126Refractive error7.000000e-42
GCST010796_3501Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-10
GCST010796_3502Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-09
GCST010796_3503Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-09
GCST010796_3504Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_3505Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_4709Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-11
GCST010796_4710Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-08
GCST010796_4711Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08
GCST010796_4712Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-08
GCST010796_4713Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-09
GCST010796_4714Electrocardiogram morphology (amplitude at temporal datapoints)9.000000e-10
GCST010796_4715Electrocardiogram morphology (amplitude at temporal datapoints)1.000000e-10
GCST010796_4716Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-11
GCST010796_4717Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-11
GCST010796_4718Electrocardiogram morphology (amplitude at temporal datapoints)3.000000e-10
GCST010796_4719Electrocardiogram morphology (amplitude at temporal datapoints)8.000000e-10
GCST010796_4720Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-10
GCST010796_4721Electrocardiogram morphology (amplitude at temporal datapoints)9.000000e-10
GCST010796_4722Electrocardiogram morphology (amplitude at temporal datapoints)4.000000e-09
GCST010796_4723Electrocardiogram morphology (amplitude at temporal datapoints)9.000000e-09
GCST010796_4724Electrocardiogram morphology (amplitude at temporal datapoints)2.000000e-09
GCST010796_4725Electrocardiogram morphology (amplitude at temporal datapoints)7.000000e-11
GCST011010_16Electrocardiographic traits (multivariate)5.000000e-09

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0004682QT interval
EFO:0010103response to peginterferon alfa-2a
EFO:0004327electrocardiography

MeSH disease descriptors (1)

DescriptorNameTree numbers
D012174Retinitis PigmentosaC11.270.684; 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

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression, decreases methylation, increases expression8
trichostatin Aaffects cotreatment, decreases expression, affects expression4
entinostatdecreases expression, affects cotreatment2
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidineincreases expression, increases response to substance2
Vorinostataffects cotreatment, decreases expression2
Air Pollutantsincreases abundance, decreases expression2
Benzo(a)pyrenedecreases expression, decreases methylation2
Estradioldecreases expression, affects expression2
Smokeincreases abundance, decreases expression, decreases reaction2
GSK-J4increases expression1
bisphenol Faffects cotreatment, increases expression1
methylmercuric chloridedecreases expression1
bisphenol Aincreases expression1
sodium arsenateincreases abundance, decreases expression1
2-butenalincreases expression1
arseniteaffects binding, decreases reaction1
methylparabenincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
didecyldimethylammoniumincreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, decreases expression1
S-(1,2-dichlorovinyl)cysteineincreases expression1
phenethyl isothiocyanateincreases expression1
di-n-butylphosphoric acidaffects expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
clothianidinincreases expression1
nutlin 3increases expression1
abrinedecreases expression1
2,2’,4,4’-tetrabromodiphenyl etherincreases expression1
dorsomorphinaffects cotreatment, decreases expression1
jinfukangaffects cotreatment, increases expression1

Clinical trials (associated diseases)

234 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00717080PHASE4COMPLETEDThe Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114PHASE3COMPLETEDRandomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116PHASE3COMPLETEDRandomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333PHASE3COMPLETEDClinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395PHASE3TERMINATEDPhase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207PHASE3COMPLETEDManagement of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853PHASE3COMPLETEDCB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220PHASE3ACTIVE_NOT_RECRUITINGOral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301PHASE3COMPLETEDManagement of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583PHASE3ACTIVE_NOT_RECRUITINGA Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855PHASE3NOT_YET_RECRUITINGA Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530PHASE3NOT_YET_RECRUITING24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230PHASE2COMPLETEDDHA and X-Linked Retinitis Pigmentosa
NCT00447980PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609PHASE2COMPLETEDTrial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515PHASE2COMPLETEDEfficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659PHASE2COMPLETEDRetinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715PHASE2COMPLETEDAutologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165PHASE2COMPLETEDNerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711PHASE2COMPLETEDAflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360PHASE2UNKNOWNIntravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640PHASE2UNKNOWNStudying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733PHASE2COMPLETEDSafety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207PHASE2COMPLETEDMinocycline Treatment in Retinitis Pigmentosa
NCT04356716PHASE2COMPLETEDSildenafil for Treatment of Choroidal Ischemia
NCT04604899PHASE2COMPLETEDSafety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369PHASE2UNKNOWNInvestigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496PHASE2UNKNOWNEffects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772PHASE2COMPLETEDEfficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964PHASE2TERMINATEDAn Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179PHASE2COMPLETEDA Study in Subjects With Retinitis Pigmentosa
NCT06627179PHASE2RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947PHASE2RECRUITINGA Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633PHASE2RECRUITINGSafety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT00063765PHASE1COMPLETEDEvaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455PHASE1COMPLETEDInvestigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575PHASE1TERMINATEDA Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561PHASE1COMPLETEDAutologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
  • Associated diseases: retinitis pigmentosa 1
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): retinitis pigmentosa