YPEL2
geneOn 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
| Field | Value |
|---|---|
| HGNC ID | HGNC:18326 |
| Approved symbol | YPEL2 |
| Name | yippee like 2 |
| Location | 17q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FKSG4 |
| Ensembl gene | ENSG00000175155 |
| Ensembl biotype | protein_coding |
| OMIM | 609723 |
| Entrez | 388403 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00001207678 | 59397101 | 59401729 |
| ENSE00001324083 | 59353215 | 59353526 |
| ENSE00002691772 | 59331655 | 59331824 |
| ENSE00003541414 | 59388327 | 59388370 |
| ENSE00003687887 | 59389360 | 59389468 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 161954 | 10.4755 | 1646 |
| 161955 | 3.2728 | 845 |
| 161953 | 1.1751 | 548 |
Top tissues by expression
260 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 99.26 | gold quality |
| endothelial cell | CL:0000115 | 97.59 | gold quality |
| oviduct epithelium | UBERON:0004804 | 97.22 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.34 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 95.52 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.51 | gold quality |
| saphenous vein | UBERON:0007318 | 95.46 | gold quality |
| corpus callosum | UBERON:0002336 | 95.15 | gold quality |
| deltoid | UBERON:0001476 | 94.81 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.79 | gold quality |
| vena cava | UBERON:0004087 | 94.73 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.50 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.43 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 94.36 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.05 | gold quality |
| medulla oblongata | UBERON:0001896 | 93.83 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.66 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 93.59 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.56 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.50 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 93.50 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 93.43 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 93.34 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.23 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 93.20 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.11 | gold quality |
| oocyte | CL:0000023 | 92.92 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 92.88 | gold quality |
| ventral tegmental area | UBERON:0002691 | 92.77 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 92.72 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10018 | yes | 171.44 |
| E-MTAB-7316 | yes | 31.11 |
| E-GEOD-137537 | yes | 31.05 |
| E-ANND-3 | yes | 15.82 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ypel2b | ENSDARG00000087258 |
| mus_musculus | Ypel2 | ENSMUSG00000018427 |
| rattus_norvegicus | Ypel2 | ENSRNOG00000005447 |
| drosophila_melanogaster | Ypel | FBGN0030183 |
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 2 — Q96QA6 (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)
| ID | Name | Type |
|---|---|---|
| IPR004910 | Yippee/Mis18/Cereblon | Domain |
| IPR034751 | Yippee | Domain |
| IPR039058 | Yippee_fam | Family |
Pfam: PF03226
UniProt features (6 total): binding site 4, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96QA6-F1 | 91.14 | 0.81 |
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:
| Category | Terms |
|---|---|
| cation binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
524 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| YPEL2 | DHX40 | Q8IX18 | 629 |
| YPEL2 | CHCT1 | Q86WR6 | 409 |
| YPEL2 | TUBD1 | Q9UJT1 | 397 |
| YPEL2 | ZBTB44 | Q8NCP5 | 380 |
| YPEL2 | RNFT1 | Q5M7Z0 | 374 |
| YPEL2 | KLHL24 | Q6TFL4 | 372 |
| YPEL2 | USP32 | Q8NFA0 | 369 |
| YPEL2 | APPBP2 | Q92624 | 361 |
| YPEL2 | MOSMO | Q8NHV5 | 359 |
| YPEL2 | ZNF846 | Q147U1 | 358 |
| YPEL2 | C1orf226 | A1L170 | 356 |
| YPEL2 | NBEAL1 | Q6ZS30 | 352 |
| YPEL2 | PLCXD2 | Q0VAA5 | 349 |
| YPEL2 | TEX14 | Q8IWB6 | 348 |
| YPEL2 | PTRH2 | Q9Y3E5 | 348 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SH2D4A | YPEL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PICK1 | YPEL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YPEL2 | SH2D4A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRPK2 | YPEL2 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| YPEL2 | SRPK1 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| YPEL2 | Fam168b | psi-mi:“MI:0915”(physical association) | 0.370 |
| YPEL2 | PICK1 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 3 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1239 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:59331820:GCCGG:G | donor_gain | 1.0000 |
| 17:59331822:CGGG:C | donor_loss | 1.0000 |
| 17:59331823:GG:G | donor_gain | 1.0000 |
| 17:59331823:GGGTA:G | donor_loss | 1.0000 |
| 17:59331824:GG:G | donor_gain | 1.0000 |
| 17:59331824:GGT:G | donor_loss | 1.0000 |
| 17:59331825:G:GG | donor_gain | 1.0000 |
| 17:59331825:GTA:G | donor_loss | 1.0000 |
| 17:59331826:T:G | donor_loss | 1.0000 |
| 17:59388321:T:G | acceptor_gain | 1.0000 |
| 17:59388325:A:AG | acceptor_gain | 1.0000 |
| 17:59388326:G:GA | acceptor_gain | 1.0000 |
| 17:59388326:GTC:G | acceptor_gain | 1.0000 |
| 17:59388369:GT:G | donor_gain | 1.0000 |
| 17:59388371:G:GG | donor_gain | 1.0000 |
| 17:59389345:T:A | acceptor_gain | 1.0000 |
| 17:59389345:T:TA | acceptor_loss | 1.0000 |
| 17:59389347:T:TA | acceptor_gain | 1.0000 |
| 17:59389352:C:A | acceptor_gain | 1.0000 |
| 17:59389356:ATAG:A | acceptor_loss | 1.0000 |
| 17:59389357:T:G | acceptor_gain | 1.0000 |
| 17:59389358:A:AG | acceptor_gain | 1.0000 |
| 17:59389359:G:GA | acceptor_gain | 1.0000 |
| 17:59389359:GA:G | acceptor_gain | 1.0000 |
| 17:59389359:GAGT:G | acceptor_gain | 1.0000 |
| 17:59389359:GAGTT:G | acceptor_gain | 1.0000 |
| 17:59389464:AATAC:A | donor_gain | 1.0000 |
| 17:59389465:ATAC:A | donor_gain | 1.0000 |
| 17:59389465:ATACG:A | donor_loss | 1.0000 |
| 17:59389466:TAC:T | donor_gain | 1.0000 |
AlphaMissense
778 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:59353476:T:C | C23R | 1.000 |
| 17:59353477:G:A | C23Y | 1.000 |
| 17:59353478:C:G | C23W | 1.000 |
| 17:59353485:T:C | C26R | 1.000 |
| 17:59353486:G:A | C26Y | 1.000 |
| 17:59353487:C:G | C26W | 1.000 |
| 17:59353516:T:C | L36P | 1.000 |
| 17:59353521:T:C | S38P | 1.000 |
| 17:59353522:C:T | S38F | 1.000 |
| 17:59388330:T:A | F41I | 1.000 |
| 17:59388330:T:C | F41L | 1.000 |
| 17:59388330:T:G | F41V | 1.000 |
| 17:59388331:T:C | F41S | 1.000 |
| 17:59388331:T:G | F41C | 1.000 |
| 17:59388332:C:A | F41L | 1.000 |
| 17:59388332:C:G | F41L | 1.000 |
| 17:59388336:G:A | G43R | 1.000 |
| 17:59388336:G:C | G43R | 1.000 |
| 17:59388337:G:A | G43E | 1.000 |
| 17:59388345:G:A | G46R | 1.000 |
| 17:59388345:G:C | G46R | 1.000 |
| 17:59388346:G:A | G46E | 1.000 |
| 17:59388346:G:T | G46V | 1.000 |
| 17:59388352:C:A | A48E | 1.000 |
| 17:59388358:T:A | L50H | 1.000 |
| 17:59388358:T:C | L50P | 1.000 |
| 17:59389366:T:A | N56K | 1.000 |
| 17:59389366:T:G | N56K | 1.000 |
| 17:59389392:G:C | R65P | 1.000 |
| 17:59389398:T:C | L67S | 1.000 |
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
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa | Limited | Autosomal 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):
| Study | Trait | p-value |
|---|---|---|
| GCST002500_45 | QT interval | 8.000000e-06 |
| GCST008514_27 | Peginterferon alfa-2a treatment response in chronic hepatitis B infection | 5.000000e-06 |
| GCST010002_126 | Refractive error | 7.000000e-42 |
| GCST010796_3501 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-10 |
| GCST010796_3502 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_3503 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-09 |
| GCST010796_3504 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_3505 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_4709 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-11 |
| GCST010796_4710 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_4711 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_4712 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_4713 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-09 |
| GCST010796_4714 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-10 |
| GCST010796_4715 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-10 |
| GCST010796_4716 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-11 |
| GCST010796_4717 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-11 |
| GCST010796_4718 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-10 |
| GCST010796_4719 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-10 |
| GCST010796_4720 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-10 |
| GCST010796_4721 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-10 |
| GCST010796_4722 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_4723 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_4724 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_4725 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-11 |
| GCST011010_16 | Electrocardiographic traits (multivariate) | 5.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004682 | QT interval |
| EFO:0010103 | response to peginterferon alfa-2a |
| EFO:0004327 | electrocardiography |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
62 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation, increases expression | 8 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| entinostat | decreases expression, affects cotreatment | 2 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 2 |
| Vorinostat | affects cotreatment, decreases expression | 2 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 2 |
| Estradiol | decreases expression, affects expression | 2 |
| Smoke | increases abundance, decreases expression, decreases reaction | 2 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| sodium arsenate | increases abundance, decreases expression | 1 |
| 2-butenal | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| methylparaben | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| didecyldimethylammonium | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| phenethyl isothiocyanate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| clothianidin | increases expression | 1 |
| nutlin 3 | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
Clinical trials (associated diseases)
234 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) |
| 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 |
| NCT01068561 | PHASE1 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
Related Atlas pages
- 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