DOP1B

gene
On this page

Also known as KIAA0933

Summary

DOP1B (DOP1 leucine zipper like protein B, HGNC:1291) is a protein-coding gene on chromosome 21q22.12, encoding Protein DOP1B (Q9Y3R5). May play a role in regulating membrane trafficking of cargo proteins.

Involved in cognition and embryonic pattern specification. Located in early endosome membrane.

Source: NCBI Gene 9980 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 482 total
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_001320714

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1291
Approved symbolDOP1B
NameDOP1 leucine zipper like protein B
Location21q22.12
Locus typegene with protein product
StatusApproved
AliasesKIAA0933
Ensembl geneENSG00000142197
Ensembl biotypeprotein_coding
OMIM604803
Entrez9980

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000399151, ENST00000463668, ENST00000492760, ENST00000685394, ENST00000691173, ENST00000693273, ENST00000903972, ENST00000937467, ENST00000943075, ENST00000943076

RefSeq mRNA: 2 — MANE Select: NM_001320714 NM_001320714, NM_005128

CCDS: CCDS13643

Canonical transcript exons

ENST00000691173 — 37 exons

ExonStartEnd
ENSE000009528673621937236219492
ENSE000009528683622323136223350
ENSE000009528693622556536225667
ENSE000009528703622768636227877
ENSE000009528713623045036231134
ENSE000009528723623280436233075
ENSE000009528733623726236237414
ENSE000009528743623860136238701
ENSE000009528753623976536239955
ENSE000010441793626374836263814
ENSE000010441873621444236214556
ENSE000010441943616470836164871
ENSE000010441983628148336281611
ENSE000010441993624504836246677
ENSE000010442023626354636263650
ENSE000010442083628028536280346
ENSE000010442123621408136214190
ENSE000010442243627702136277100
ENSE000010442283626067736260732
ENSE000010442333621197436212097
ENSE000010442383620033136200501
ENSE000010442413628801436288150
ENSE000010442423628904536289206
ENSE000010442543628875636288811
ENSE000010442583627820936278355
ENSE000010442603629210436292233
ENSE000010442633627797536278084
ENSE000010442793619907036199251
ENSE000012381453627001336270157
ENSE000012383043629332036294274
ENSE000034640963625377236253909
ENSE000035006173621155336211651
ENSE000035048933624838036248568
ENSE000036414683620871536208904
ENSE000036496643625116236251284
ENSE000036641973624751736247628
ENSE000039320383615682436156943

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 92.07.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9165 / max 135.9408, expressed in 1681 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1889858.70781677
1889860.208784

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
cortical plateUBERON:000534392.07gold quality
ganglionic eminenceUBERON:000402390.33gold quality
rectumUBERON:000105284.56gold quality
cerebellar cortexUBERON:000212984.21gold quality
cerebellar hemisphereUBERON:000224584.18gold quality
right hemisphere of cerebellumUBERON:001489083.29gold quality
monocyteCL:000057683.17gold quality
cerebellumUBERON:000203782.91gold quality
mononuclear cellCL:000084282.75gold quality
leukocyteCL:000073882.72gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047382.66gold quality
minor salivary glandUBERON:000183081.10gold quality
saliva-secreting glandUBERON:000104480.96gold quality
muscle of legUBERON:000138380.67gold quality
gastrocnemiusUBERON:000138880.28gold quality
esophagus mucosaUBERON:000246980.25gold quality
body of stomachUBERON:000116180.07gold quality
hindlimb stylopod muscleUBERON:000425280.03gold quality
granulocyteCL:000009479.87gold quality
bone marrow cellCL:000209279.58gold quality
lower esophagus mucosaUBERON:003583479.44gold quality
stomachUBERON:000094579.30gold quality
transverse colonUBERON:000115779.23gold quality
jejunal mucosaUBERON:000039979.14gold quality
mouth mucosaUBERON:000372978.94gold quality
secondary oocyteCL:000065578.68gold quality
islet of LangerhansUBERON:000000678.02gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099177.91gold quality
skeletal muscle organUBERON:001489277.90gold quality
muscle organUBERON:000163077.89gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes6.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting DOP1B, 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-656-3P100.0072.152788
HSA-MIR-477599.9875.006394
HSA-MIR-60799.9773.625593
HSA-MIR-512-3P99.9767.351049
HSA-MIR-3065-5P99.9771.563281
HSA-MIR-590-3P99.9674.346478
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-539-5P99.9370.302855
HSA-MIR-4778-3P99.9370.401818
HSA-MIR-367199.9073.043897
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-469899.8471.414303
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-4802-3P99.7270.131273
HSA-MIR-545-5P99.6670.182308
HSA-MIR-130399.6569.771662
HSA-MIR-3682-3P99.5867.63865
HSA-MIR-211399.5871.221521
HSA-MIR-7159-5P99.5372.122472
HSA-MIR-54399.5269.032595
HSA-MIR-391599.4568.491905
HSA-MIR-504-3P99.3067.181745
HSA-MIR-429399.2265.461263
HSA-MIR-6504-3P99.1769.312891
HSA-MIR-10399-5P99.1769.872610
HSA-MIR-323B-3P99.1468.89725

Literature-anchored findings (GeneRIF, showing 6)

  • The differentially expressed C21orf5 gene in the medial temporal-lobe system could play a role in Down syndrome. (PMID:12767918)
  • C21orf5 selective expression in the key brain structures for learning and memory suggests that C21orf5 overexpression could participate in mental retardation pathogenesis in Down syndrome patients. (PMID:16276086)
  • C21orf5, could play a role in brain morphogenesis and, when overexpressed, it could participate in neurological features and mental retardation observed in DS patients. (PMID:16303751)
  • Results quantify and statistically analyze, for the first time, DOPEY2 expression variations in different regions of the Down syndrome human fetal brains and to compare them to corresponding normal brains. (PMID:19460634)
  • an evolutionary conserved MON2:DOPEY2:ATP9A complex is required for SNX3 retromer mediation of Wntless sorting and Wnt secretion (PMID:30213940)
  • A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family. (PMID:33273802)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriodop1bENSDARG00000055857
mus_musculusDop1bENSMUSG00000022946
rattus_norvegicusDop1bENSRNOG00000051204
drosophila_melanogasterCG15099FBGN0034400
caenorhabditis_eleganspad-1WBGENE00003905

Paralogs (1): DOP1A (ENSG00000083097)

Protein

Protein identifiers

Protein DOP1BQ9Y3R5 (reviewed: Q9Y3R5)

All UniProt accessions (3): Q9Y3R5, A0A8I5KUN1, A0A8I5KWI7

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in regulating membrane trafficking of cargo proteins. Together with ATP9A and MON2, regulates SNX3 retromer-mediated endosomal sorting of WLS away from lysosomal degradation.

Subunit / interactions. Homooligomer. Heterotrimer with ATP9A and MON2; this interaction is retromer-independent. Interacts with SNX3.

Subcellular location. Early endosome membrane. Golgi apparatus membrane.

Tissue specificity. Ubiquitously expressed. Overexpressed in lymphoblasts from Down syndrome patients.

Similarity. Belongs to the DOP1 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q9Y3R5-11yes
Q9Y3R5-22

RefSeq proteins (2): NP_001307643, NP_005119 (=MANE)

Domains & families (InterPro)

IDNameType
IPR007249DOP1_NDomain
IPR040314DOP1Family
IPR056457DOP1_CDomain
IPR056458TPR_DOP1_MDomain
IPR056459TPR_DOP1Domain

Pfam: PF04118, PF24597, PF24598, PF24601

UniProt features (23 total): sequence variant 5, sequence conflict 5, region of interest 4, compositionally biased region 4, modified residue 3, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9Y3R5-F172.360.19

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 (3): 597, 1169, 556

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 174 (showing top): GOBP_COGNITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOCC_TRANS_GOLGI_NETWORK, MARTINEZ_RB1_TARGETS_DN, GOBP_EMBRYONIC_PATTERN_SPECIFICATION, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, GOBP_GOLGI_TO_ENDOSOME_TRANSPORT, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, SCHLOSSER_SERUM_RESPONSE_DN, BROWN_MYELOID_CELL_DEVELOPMENT_UP

GO Biological Process (5): Golgi to endosome transport (GO:0006895), endoplasmic reticulum organization (GO:0007029), embryonic pattern specification (GO:0009880), protein transport (GO:0015031), cognition (GO:0050890)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): Golgi membrane (GO:0000139), endosome (GO:0005768), trans-Golgi network (GO:0005802), cytosol (GO:0005829), early endosome membrane (GO:0031901), extracellular exosome (GO:0070062), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
endomembrane system2
cytoplasm2
cellular anatomical structure2
post-Golgi vesicle-mediated transport1
intercellular transport1
cytosolic transport1
organelle organization1
endomembrane system organization1
pattern specification process1
embryo development1
transport1
intracellular protein localization1
establishment of protein localization1
nervous system process1
binding1
Golgi apparatus1
bounding membrane of organelle1
cytoplasmic vesicle1
Golgi apparatus subcompartment1
early endosome1
endosome membrane1
extracellular vesicle1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

792 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
DOP1BSLC35F2Q8IXU6645
DOP1BMON2Q7Z3U7590
DOP1BIMMP2LQ96T52557
DOP1BRELNP78509542
DOP1BCSMD1Q96PZ7531
DOP1BMRPS6P82932517
DOP1BCHRFAM7AQ494W8510
DOP1BTMEM50BP56557488
DOP1BHNRNPCL1O60812475
DOP1BEVA1CP58658471
DOP1BPAXBP1Q9Y5B6463
DOP1BPOFUT2Q9Y2G5449
DOP1BERBB4Q15303443
DOP1BSYNJ1O43426431
DOP1BTBATAQ96M53419

IntAct

34 interactions, top by confidence:

ABTypeScore
SDC2PDPK1psi-mi:“MI:0914”(association)0.640
LAMP3METTL15psi-mi:“MI:0914”(association)0.530
ATP1A1SRCpsi-mi:“MI:0914”(association)0.530
STK16UNC119Bpsi-mi:“MI:0914”(association)0.530
ILVBLSLC33A1psi-mi:“MI:0914”(association)0.530
TPTEILVBLpsi-mi:“MI:0914”(association)0.350
Ppsi-mi:“MI:0914”(association)0.350
IMMP1LEIF1AYpsi-mi:“MI:0914”(association)0.350
YWHAHSHTN1psi-mi:“MI:0914”(association)0.350
HLA-Cpsi-mi:“MI:0914”(association)0.350
ATG16L1ESYT2psi-mi:“MI:0914”(association)0.350
MGARPBTAF1psi-mi:“MI:0914”(association)0.350
IGHMESYT2psi-mi:“MI:0914”(association)0.350
GPR182METTL15psi-mi:“MI:0914”(association)0.350
NPTNRTL8Cpsi-mi:“MI:0914”(association)0.350
FPR1GPR89Apsi-mi:“MI:0914”(association)0.350
DOP1BFOXK1psi-mi:“MI:0914”(association)0.350
GPR182SLC12A8psi-mi:“MI:0914”(association)0.350
CLEC2DESYT2psi-mi:“MI:0914”(association)0.350
HLA-DQA1TMEM131Lpsi-mi:“MI:0914”(association)0.350
OPALINFAM171A2psi-mi:“MI:0914”(association)0.350
MFSD4AUBXN8psi-mi:“MI:0914”(association)0.350
HLA-BRAB29psi-mi:“MI:0914”(association)0.350
MFSD4BXPOTpsi-mi:“MI:0914”(association)0.350
SLC27A4IPO5psi-mi:“MI:0914”(association)0.350
SLC2A2ESYT2psi-mi:“MI:0914”(association)0.350
SLC2A9EXOC5psi-mi:“MI:0914”(association)0.350
SLC30A4ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (62): DOPEY2 (Affinity Capture-MS), DOPEY2 (Affinity Capture-MS), DOPEY2 (Affinity Capture-MS), DOPEY2 (Affinity Capture-MS), DOPEY2 (Affinity Capture-MS), DOPEY2 (Affinity Capture-MS), DOPEY2 (Affinity Capture-RNA), DOPEY2 (Protein-RNA), DOPEY2 (Affinity Capture-MS), DOPEY2 (Proximity Label-MS), DOPEY2 (Affinity Capture-MS), DOPEY2 (Proximity Label-MS), DOPEY2 (Proximity Label-MS), DOPEY2 (Proximity Label-MS), DOPEY2 (Proximity Label-MS)

ESM2 similar proteins: A0JMD0, A1A535, A1ZAB5, A2AIV2, A8E7C5, A8PJX4, A8XAA9, B0W2S0, B3MIW0, B3NPV8, B4GAM1, B4JW99, B4KT50, B4LQ23, B4MY63, B4P6P7, D3YVL2, E9PXF8, F4HS99, F4HZK4, F4J5S1, F4JKH6, O60502, O75153, O88379, P34466, P69735, Q0IHW8, Q0VA04, Q15042, Q17N71, Q291J5, Q5PQS3, Q5SW19, Q5TYW4, Q5U430, Q69YN4, Q6NTN5, Q6ZT12, Q7PZD5

Diamond homologs: Q3UHQ6, Q5JWR5, Q642P2, Q8BL99, Q9Y3R5, Q9Y7B3, A1ZBE8, Q292H2, Q9C0Z4, Q5WNI9, Q9XW10

SIGNOR signaling

1 interactions.

AEffectBMechanism
DOP1B“form complex”“ATP9A-DOP1B-MON2, golgi transporter complex”binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance389
Likely benign30
Benign12

Top pathogenic / likely-pathogenic (0)

SpliceAI

5780 predictions. Top by Δscore:

VariantEffectΔscore
21:36164871:GGT:Gdonor_loss1.0000
21:36164873:T:Gdonor_loss1.0000
21:36200326:C:Aacceptor_gain1.0000
21:36200498:ACAGG:Adonor_loss1.0000
21:36200500:AGG:Adonor_loss1.0000
21:36200502:GTGC:Gdonor_loss1.0000
21:36200503:T:Gdonor_loss1.0000
21:36208905:GT:Gdonor_loss1.0000
21:36208906:T:Adonor_loss1.0000
21:36209923:AAAAT:Aacceptor_gain1.0000
21:36214437:AATAG:Aacceptor_gain1.0000
21:36214438:ATAG:Aacceptor_gain1.0000
21:36214439:TAGG:Tacceptor_loss1.0000
21:36214440:A:AGacceptor_gain1.0000
21:36214440:AG:Aacceptor_gain1.0000
21:36214440:AGG:Aacceptor_gain1.0000
21:36214441:G:GCacceptor_gain1.0000
21:36214441:GG:Gacceptor_gain1.0000
21:36214441:GGG:Gacceptor_gain1.0000
21:36214441:GGGT:Gacceptor_gain1.0000
21:36214441:GGGTT:Gacceptor_gain1.0000
21:36214553:A:AGdonor_gain1.0000
21:36223229:A:AGacceptor_gain1.0000
21:36223230:G:GAacceptor_gain1.0000
21:36225553:T:TAacceptor_gain1.0000
21:36225555:T:TAacceptor_gain1.0000
21:36225561:ATAG:Aacceptor_loss1.0000
21:36225562:T:Gacceptor_gain1.0000
21:36225563:A:ACacceptor_loss1.0000
21:36225563:A:AGacceptor_gain1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000022122 (21:36275568 A>G), RS1000023922 (21:36259103 C>G,T), RS1000029466 (21:36236394 T>G), RS1000034884 (21:36163259 G>A,C), RS1000050374 (21:36186229 G>A), RS1000090031 (21:36242451 A>C), RS1000091108 (21:36199706 G>A,T), RS1000098371 (21:36179846 G>A), RS1000106536 (21:36163492 G>A), RS1000128648 (21:36281295 CAAATA>C,CA), RS1000155259 (21:36190792 G>T), RS1000176369 (21:36292912 C>G), RS1000177253 (21:36221916 G>A), RS1000186014 (21:36264424 A>G,T), RS1000188814 (21:36200742 C>G)

Disease associations

OMIM: gene MIM:604803 | disease phenotypes: MIM:148300

GenCC curated gene-disease

Mondo (1): keratoconus (MONDO:0015486)

Orphanet (2): OBSOLETE: Keratoconus (Orphanet:156071), NON RARE IN EUROPE: Isolated keratoconus (Orphanet:2335)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0000563Keratoconus

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D007640KeratoconusC11.204.627

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

2 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs112783657DOP1B30.001cyclophosphamide;epirubicin;fluorouracil
rs74743371DOP1B30.001cyclophosphamide;epirubicin;fluorouracil

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
arseniteaffects binding, decreases reaction, decreases methylation2
(+)-JQ1 compoundincreases expression2
Acetaminophenincreases expression2
Benzo(a)pyrenedecreases expression, increases mutagenesis2
Cisplatindecreases expression2
Estradiolaffects cotreatment, decreases expression2
FR900359decreases phosphorylation1
triphenyl phosphateaffects expression1
bisphenol Adecreases expression1
decabromobiphenyl etherdecreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arseniteincreases abundance, decreases expression1
tetrabromobisphenol Adecreases expression1
manganese chlorideincreases abundance, increases expression1
benzo(e)pyrenedecreases methylation1
potassium chromate(VI)affects cotreatment, decreases expression1
aflatoxin B2affects methylation1
epigallocatechin gallateaffects cotreatment, decreases expression1
perfluorooctane sulfonic aciddecreases expression1
ICG 001increases expression1
2,2’,4,4’-tetrabromodiphenyl etherdecreases expression1
pentabrominated diphenyl ether 100decreases expression1
hexabrominated diphenyl ether 153decreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Temozolomidedecreases expression1
Arsenicdecreases expression, increases abundance1
Caffeineaffects phosphorylation1
Coumestroldecreases expression1
Hydrogen Peroxideaffects expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT01485211PHASE4COMPLETEDCorneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Riboflavin
NCT02119039PHASE4COMPLETEDEffect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus
NCT03245853PHASE4COMPLETEDEpi-On Corneal Crosslinking for Keratoconus
NCT03429569PHASE4UNKNOWNCross-Linking ACcéléré Iontophorèse Confocal kératocONE
NCT04427956PHASE4COMPLETEDCorneal Crosslinking Treatment Study
NCT07474870PHASE4NOT_YET_RECRUITINGOutcomes of CTAK Surgery
NCT00371202PHASE3UNKNOWNComparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus
NCT00647699PHASE3COMPLETEDCorneal Collagen Cross-linking for Progressive Keratoconus
NCT00815256PHASE3UNKNOWNSafety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus
NCT00887900PHASE3COMPLETEDDeep Anterior Lamellar Keratoplasty (DALK)
NCT01112072PHASE3UNKNOWNCorneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia
NCT01152541PHASE3UNKNOWNCorneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin
NCT01190306PHASE3TERMINATEDSafety Study of the VEGA UV-A System to Treat Keratoconus
NCT01344187PHASE3COMPLETEDSafety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT01459679PHASE3TERMINATEDSafety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery
NCT01464268PHASE3UNKNOWNTransepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia
NCT01604135PHASE3ACTIVE_NOT_RECRUITINGCollagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial
NCT01643226PHASE3COMPLETEDSafety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT01672814PHASE3COMPLETEDMicrowave Treatment and Corneal Collagen Crosslinking for Keratoconus
NCT01682993PHASE3TERMINATEDCorneal Cross Linking and Topography Guided Excimer Laser Treatment
NCT01972854PHASE3TERMINATEDSafety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus
NCT02613780PHASE3UNKNOWNRefractive Treatment of Early Keratoconus
NCT02638376PHASE3UNKNOWNEvaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus
NCT03080077PHASE3UNKNOWNSafety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia
NCT03187912PHASE3COMPLETEDAccelerated Corneal Cross-linking With Different Riboflavin Solutions
NCT03442751PHASE3COMPLETEDStudy to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus
NCT03858036PHASE3UNKNOWNCorneal Collagen Cross-Linking (CXL) Performed With Epi-ON Versus Epi-OFF in Eyes With Keratoconus and Other Corneal Ectatic Disorders
NCT04897503PHASE3UNKNOWNCorneal Collagen Crosslinking for Keratoconus and Ectasia Using Riboflavin/Dextran or Riboflavin/Methylcellulose
NCT04905108PHASE3UNKNOWNTransepithelial (Epi-on) Corneal Collagen Crosslinking to Treat Keratoconus and Corneal Ectasia
NCT05027295PHASE3UNKNOWNAccelerated Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Pulse or Continuous UV-A Light
NCT06100939PHASE3ACTIVE_NOT_RECRUITINGEpithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age With Keratoconus
NCT06100952PHASE3ACTIVE_NOT_RECRUITINGEpithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age with Keratoconus
NCT06450470PHASE3RECRUITINGUse of a Freeze-dried Amniotic Membrane Post Crosslinking in Subjects With Progressive Keratoconus
NCT06601101PHASE3RECRUITINGEffects of Topical Insulin on Corneal Epithelium Healing After Corneal Crosslinking in Patients With Keratoconus
NCT07124910PHASE3RECRUITINGComparison of Epi-ON Corneal Collagen Crosslinking Performed Using an 18-Minute UVA Exposure vs. a 24-Minute UVA Exposure on Eyes With Ectatic Corneal Diseases
NCT07135167PHASE3RECRUITINGCompassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome
NCT00409955PHASE2COMPLETEDLamellar Transplant With Lyophilized Corneas
NCT00925327PHASE2UNKNOWNSafety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking for Compassionate Treatment in Pediatric Patients With Progressive Keratoconus
NCT01143389PHASE2COMPLETEDCorneal Crosslinking in Patients With Keratoconus and Post-Refractive Ectasia
NCT01181219PHASE2COMPLETEDTransepithelial Corneal Collagen Cross-linking (CXL) in Treatment of Keratoconus
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): keratoconus