DOP1B
geneOn 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
| Field | Value |
|---|---|
| HGNC ID | HGNC:1291 |
| Approved symbol | DOP1B |
| Name | DOP1 leucine zipper like protein B |
| Location | 21q22.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0933 |
| Ensembl gene | ENSG00000142197 |
| Ensembl biotype | protein_coding |
| OMIM | 604803 |
| Entrez | 9980 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000952867 | 36219372 | 36219492 |
| ENSE00000952868 | 36223231 | 36223350 |
| ENSE00000952869 | 36225565 | 36225667 |
| ENSE00000952870 | 36227686 | 36227877 |
| ENSE00000952871 | 36230450 | 36231134 |
| ENSE00000952872 | 36232804 | 36233075 |
| ENSE00000952873 | 36237262 | 36237414 |
| ENSE00000952874 | 36238601 | 36238701 |
| ENSE00000952875 | 36239765 | 36239955 |
| ENSE00001044179 | 36263748 | 36263814 |
| ENSE00001044187 | 36214442 | 36214556 |
| ENSE00001044194 | 36164708 | 36164871 |
| ENSE00001044198 | 36281483 | 36281611 |
| ENSE00001044199 | 36245048 | 36246677 |
| ENSE00001044202 | 36263546 | 36263650 |
| ENSE00001044208 | 36280285 | 36280346 |
| ENSE00001044212 | 36214081 | 36214190 |
| ENSE00001044224 | 36277021 | 36277100 |
| ENSE00001044228 | 36260677 | 36260732 |
| ENSE00001044233 | 36211974 | 36212097 |
| ENSE00001044238 | 36200331 | 36200501 |
| ENSE00001044241 | 36288014 | 36288150 |
| ENSE00001044242 | 36289045 | 36289206 |
| ENSE00001044254 | 36288756 | 36288811 |
| ENSE00001044258 | 36278209 | 36278355 |
| ENSE00001044260 | 36292104 | 36292233 |
| ENSE00001044263 | 36277975 | 36278084 |
| ENSE00001044279 | 36199070 | 36199251 |
| ENSE00001238145 | 36270013 | 36270157 |
| ENSE00001238304 | 36293320 | 36294274 |
| ENSE00003464096 | 36253772 | 36253909 |
| ENSE00003500617 | 36211553 | 36211651 |
| ENSE00003504893 | 36248380 | 36248568 |
| ENSE00003641468 | 36208715 | 36208904 |
| ENSE00003649664 | 36251162 | 36251284 |
| ENSE00003664197 | 36247517 | 36247628 |
| ENSE00003932038 | 36156824 | 36156943 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 188985 | 8.7078 | 1677 |
| 188986 | 0.2087 | 84 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 92.07 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.33 | gold quality |
| rectum | UBERON:0001052 | 84.56 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.21 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.18 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 83.29 | gold quality |
| monocyte | CL:0000576 | 83.17 | gold quality |
| cerebellum | UBERON:0002037 | 82.91 | gold quality |
| mononuclear cell | CL:0000842 | 82.75 | gold quality |
| leukocyte | CL:0000738 | 82.72 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.66 | gold quality |
| minor salivary gland | UBERON:0001830 | 81.10 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 80.96 | gold quality |
| muscle of leg | UBERON:0001383 | 80.67 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.28 | gold quality |
| esophagus mucosa | UBERON:0002469 | 80.25 | gold quality |
| body of stomach | UBERON:0001161 | 80.07 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 80.03 | gold quality |
| granulocyte | CL:0000094 | 79.87 | gold quality |
| bone marrow cell | CL:0002092 | 79.58 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 79.44 | gold quality |
| stomach | UBERON:0000945 | 79.30 | gold quality |
| transverse colon | UBERON:0001157 | 79.23 | gold quality |
| jejunal mucosa | UBERON:0000399 | 79.14 | gold quality |
| mouth mucosa | UBERON:0003729 | 78.94 | gold quality |
| secondary oocyte | CL:0000655 | 78.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 78.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.91 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 77.90 | gold quality |
| muscle organ | UBERON:0001630 | 77.89 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.24 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-545-5P | 99.66 | 70.18 | 2308 |
| HSA-MIR-1303 | 99.65 | 69.77 | 1662 |
| HSA-MIR-3682-3P | 99.58 | 67.63 | 865 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-3915 | 99.45 | 68.49 | 1905 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4293 | 99.22 | 65.46 | 1263 |
| HSA-MIR-6504-3P | 99.17 | 69.31 | 2891 |
| HSA-MIR-10399-5P | 99.17 | 69.87 | 2610 |
| HSA-MIR-323B-3P | 99.14 | 68.89 | 725 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dop1b | ENSDARG00000055857 |
| mus_musculus | Dop1b | ENSMUSG00000022946 |
| rattus_norvegicus | Dop1b | ENSRNOG00000051204 |
| drosophila_melanogaster | CG15099 | FBGN0034400 |
| caenorhabditis_elegans | pad-1 | WBGENE00003905 |
Paralogs (1): DOP1A (ENSG00000083097)
Protein
Protein identifiers
Protein DOP1B — Q9Y3R5 (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 ID | Names | Canonical? |
|---|---|---|
| Q9Y3R5-1 | 1 | yes |
| Q9Y3R5-2 | 2 |
RefSeq proteins (2): NP_001307643, NP_005119 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007249 | DOP1_N | Domain |
| IPR040314 | DOP1 | Family |
| IPR056457 | DOP1_C | Domain |
| IPR056458 | TPR_DOP1_M | Domain |
| IPR056459 | TPR_DOP1 | Domain |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y3R5-F1 | 72.36 | 0.19 |
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:
| Category | Terms |
|---|---|
| endomembrane system | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| post-Golgi vesicle-mediated transport | 1 |
| intercellular transport | 1 |
| cytosolic transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| pattern specification process | 1 |
| embryo development | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| nervous system process | 1 |
| binding | 1 |
| Golgi apparatus | 1 |
| bounding membrane of organelle | 1 |
| cytoplasmic vesicle | 1 |
| Golgi apparatus subcompartment | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| extracellular vesicle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
792 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DOP1B | SLC35F2 | Q8IXU6 | 645 |
| DOP1B | MON2 | Q7Z3U7 | 590 |
| DOP1B | IMMP2L | Q96T52 | 557 |
| DOP1B | RELN | P78509 | 542 |
| DOP1B | CSMD1 | Q96PZ7 | 531 |
| DOP1B | MRPS6 | P82932 | 517 |
| DOP1B | CHRFAM7A | Q494W8 | 510 |
| DOP1B | TMEM50B | P56557 | 488 |
| DOP1B | HNRNPCL1 | O60812 | 475 |
| DOP1B | EVA1C | P58658 | 471 |
| DOP1B | PAXBP1 | Q9Y5B6 | 463 |
| DOP1B | POFUT2 | Q9Y2G5 | 449 |
| DOP1B | ERBB4 | Q15303 | 443 |
| DOP1B | SYNJ1 | O43426 | 431 |
| DOP1B | TBATA | Q96M53 | 419 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| ATP1A1 | SRC | psi-mi:“MI:0914”(association) | 0.530 |
| STK16 | UNC119B | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| TPTE | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| IMMP1L | EIF1AY | psi-mi:“MI:0914”(association) | 0.350 |
| YWHAH | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MGARP | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| IGHM | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| NPTN | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| FPR1 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
| DOP1B | FOXK1 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-DQA1 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| OPALIN | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD4A | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| HLA-B | RAB29 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD4B | XPOT | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A4 | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A9 | EXOC5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC30A4 | ESYT2 | psi-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.
| A | Effect | B | Mechanism |
|---|---|---|---|
| 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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 389 |
| Likely benign | 30 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5780 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:36164871:GGT:G | donor_loss | 1.0000 |
| 21:36164873:T:G | donor_loss | 1.0000 |
| 21:36200326:C:A | acceptor_gain | 1.0000 |
| 21:36200498:ACAGG:A | donor_loss | 1.0000 |
| 21:36200500:AGG:A | donor_loss | 1.0000 |
| 21:36200502:GTGC:G | donor_loss | 1.0000 |
| 21:36200503:T:G | donor_loss | 1.0000 |
| 21:36208905:GT:G | donor_loss | 1.0000 |
| 21:36208906:T:A | donor_loss | 1.0000 |
| 21:36209923:AAAAT:A | acceptor_gain | 1.0000 |
| 21:36214437:AATAG:A | acceptor_gain | 1.0000 |
| 21:36214438:ATAG:A | acceptor_gain | 1.0000 |
| 21:36214439:TAGG:T | acceptor_loss | 1.0000 |
| 21:36214440:A:AG | acceptor_gain | 1.0000 |
| 21:36214440:AG:A | acceptor_gain | 1.0000 |
| 21:36214440:AGG:A | acceptor_gain | 1.0000 |
| 21:36214441:G:GC | acceptor_gain | 1.0000 |
| 21:36214441:GG:G | acceptor_gain | 1.0000 |
| 21:36214441:GGG:G | acceptor_gain | 1.0000 |
| 21:36214441:GGGT:G | acceptor_gain | 1.0000 |
| 21:36214441:GGGTT:G | acceptor_gain | 1.0000 |
| 21:36214553:A:AG | donor_gain | 1.0000 |
| 21:36223229:A:AG | acceptor_gain | 1.0000 |
| 21:36223230:G:GA | acceptor_gain | 1.0000 |
| 21:36225553:T:TA | acceptor_gain | 1.0000 |
| 21:36225555:T:TA | acceptor_gain | 1.0000 |
| 21:36225561:ATAG:A | acceptor_loss | 1.0000 |
| 21:36225562:T:G | acceptor_gain | 1.0000 |
| 21:36225563:A:AC | acceptor_loss | 1.0000 |
| 21:36225563:A:AG | acceptor_gain | 1.0000 |
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):
| HPO | Term |
|---|---|
| HP:0000563 | Keratoconus |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D007640 | Keratoconus | C11.204.627 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs112783657 | DOP1B | 3 | 0.00 | 1 | cyclophosphamide;epirubicin;fluorouracil |
| rs74743371 | DOP1B | 3 | 0.00 | 1 | cyclophosphamide;epirubicin;fluorouracil |
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| arsenite | affects binding, decreases reaction, decreases methylation | 2 |
| (+)-JQ1 compound | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases mutagenesis | 2 |
| Cisplatin | decreases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | increases abundance, decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | affects methylation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Caffeine | affects phosphorylation | 1 |
| Coumestrol | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
Clinical trials (associated diseases)
279 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01485211 | PHASE4 | COMPLETED | Corneal Thickness Changes During Corneal Collagen Cross-linking With Ultraviolet-A Irradiation and Riboflavin |
| NCT02119039 | PHASE4 | COMPLETED | Effect of CACICOL20 on Corneal Epithelial Healing After Cross-linking in Patients With Keratoconus |
| NCT03245853 | PHASE4 | COMPLETED | Epi-On Corneal Crosslinking for Keratoconus |
| NCT03429569 | PHASE4 | UNKNOWN | Cross-Linking ACcéléré Iontophorèse Confocal kératocONE |
| NCT04427956 | PHASE4 | COMPLETED | Corneal Crosslinking Treatment Study |
| NCT07474870 | PHASE4 | NOT_YET_RECRUITING | Outcomes of CTAK Surgery |
| NCT00371202 | PHASE3 | UNKNOWN | Comparison of Penetrating Keratoplasty and Deep Lamellar Keratoplasty With the Big Bubble Technique for Keratoconus |
| NCT00647699 | PHASE3 | COMPLETED | Corneal Collagen Cross-linking for Progressive Keratoconus |
| NCT00815256 | PHASE3 | UNKNOWN | Safety and Effectiveness of Collagen Cross Linking in Progressive Mild and Moderate Keratoconus |
| NCT00887900 | PHASE3 | COMPLETED | Deep Anterior Lamellar Keratoplasty (DALK) |
| NCT01112072 | PHASE3 | UNKNOWN | Corneal Collagen Crosslinking and Intacs for Keratoconus and Ectasia |
| NCT01152541 | PHASE3 | UNKNOWN | Corneal Collagen Crosslinking for Progressive Keratoconus and Ectasia Using Riboflavin/Dextran and Hypotonic Riboflavin |
| NCT01190306 | PHASE3 | TERMINATED | Safety Study of the VEGA UV-A System to Treat Keratoconus |
| NCT01344187 | PHASE3 | COMPLETED | Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus |
| NCT01459679 | PHASE3 | TERMINATED | Safety & Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus or Corneal Ectasia After Refractive Surgery |
| NCT01464268 | PHASE3 | UNKNOWN | Transepithelial Corneal Collagen Crosslinking for Keratoconus and Corneal Ectasia |
| NCT01604135 | PHASE3 | ACTIVE_NOT_RECRUITING | Collagen Crosslinking for Keratoconus - a Randomized Controlled Clinical Trial |
| NCT01643226 | PHASE3 | COMPLETED | Safety and Efficacy Study of Corneal Collagen Cross-Linking in Eyes With Keratoconus |
| NCT01672814 | PHASE3 | COMPLETED | Microwave Treatment and Corneal Collagen Crosslinking for Keratoconus |
| NCT01682993 | PHASE3 | TERMINATED | Corneal Cross Linking and Topography Guided Excimer Laser Treatment |
| NCT01972854 | PHASE3 | TERMINATED | Safety and Efficacy of Corneal Collagen Cross-Linking in Eyes With Keratoconus |
| NCT02613780 | PHASE3 | UNKNOWN | Refractive Treatment of Early Keratoconus |
| NCT02638376 | PHASE3 | UNKNOWN | Evaluating the Safety and Efficacy of the KXL System for Corneal Collagen Cross-Linking in Eyes Having Keratoconus |
| NCT03080077 | PHASE3 | UNKNOWN | Safety and Effectiveness of Corneal Crosslinking (CXL): Keratoconus and Post-Refractive Ectasia |
| NCT03187912 | PHASE3 | COMPLETED | Accelerated Corneal Cross-linking With Different Riboflavin Solutions |
| NCT03442751 | PHASE3 | COMPLETED | Study to Evaluate the Safety and Efficacy of Epi-on Corneal Cross-linking in Eyes With Progressive Keratoconus |
| NCT03858036 | PHASE3 | UNKNOWN | Corneal Collagen Cross-Linking (CXL) Performed With Epi-ON Versus Epi-OFF in Eyes With Keratoconus and Other Corneal Ectatic Disorders |
| NCT04897503 | PHASE3 | UNKNOWN | Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Riboflavin/Dextran or Riboflavin/Methylcellulose |
| NCT04905108 | PHASE3 | UNKNOWN | Transepithelial (Epi-on) Corneal Collagen Crosslinking to Treat Keratoconus and Corneal Ectasia |
| NCT05027295 | PHASE3 | UNKNOWN | Accelerated Corneal Collagen Crosslinking for Keratoconus and Ectasia Using Pulse or Continuous UV-A Light |
| NCT06100939 | PHASE3 | ACTIVE_NOT_RECRUITING | Epithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age With Keratoconus |
| NCT06100952 | PHASE3 | ACTIVE_NOT_RECRUITING | Epithelium-On Corneal Cross-linking in Subjects 8 to 45 Years of Age with Keratoconus |
| NCT06450470 | PHASE3 | RECRUITING | Use of a Freeze-dried Amniotic Membrane Post Crosslinking in Subjects With Progressive Keratoconus |
| NCT06601101 | PHASE3 | RECRUITING | Effects of Topical Insulin on Corneal Epithelium Healing After Corneal Crosslinking in Patients With Keratoconus |
| NCT07124910 | PHASE3 | RECRUITING | Comparison 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 |
| NCT07135167 | PHASE3 | RECRUITING | Compassionate Use Study of Epi-ON Corneal Collagen Crosslinking Performed Using UVA Exposure on Eyes With Ectatic Corneal Diseases for Subjects With Down Syndrome |
| NCT00409955 | PHASE2 | COMPLETED | Lamellar Transplant With Lyophilized Corneas |
| NCT00925327 | PHASE2 | UNKNOWN | Safety and Effectiveness of the UV-X System for Corneal Collagen Cross-Linking for Compassionate Treatment in Pediatric Patients With Progressive Keratoconus |
| NCT01143389 | PHASE2 | COMPLETED | Corneal Crosslinking in Patients With Keratoconus and Post-Refractive Ectasia |
| NCT01181219 | PHASE2 | COMPLETED | Transepithelial Corneal Collagen Cross-linking (CXL) in Treatment of Keratoconus |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): keratoconus