RNF182
geneOn this page
Also known as MGC33993
Summary
RNF182 (ring finger protein 182, HGNC:28522) is a protein-coding gene on chromosome 6p23, encoding E3 ubiquitin-protein ligase RNF182 (Q8N6D2). E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway.
Enables ubiquitin-protein transferase activity. Involved in protein ubiquitination. Located in cytoplasm.
Source: NCBI Gene 221687 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 37 total
- Phenotypes (HPO): 3
- MANE Select transcript:
NM_152737
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28522 |
| Approved symbol | RNF182 |
| Name | ring finger protein 182 |
| Location | 6p23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC33993 |
| Ensembl gene | ENSG00000180537 |
| Ensembl biotype | protein_coding |
| OMIM | 621026 |
| Entrez | 221687 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 14 protein_coding
ENST00000420478, ENST00000423553, ENST00000471906, ENST00000488300, ENST00000488763, ENST00000537388, ENST00000537663, ENST00000544682, ENST00000867841, ENST00000867842, ENST00000913239, ENST00000913240, ENST00000913241, ENST00000958706
RefSeq mRNA: 4 — MANE Select: NM_152737
NM_001165032, NM_001165033, NM_001165034, NM_152737
CCDS: CCDS4531
Canonical transcript exons
ENST00000488300 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001232087 | 13974210 | 13974364 |
| ENSE00001939557 | 13976909 | 13980310 |
| ENSE00003849763 | 13924952 | 13925023 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 98.25.
FANTOM5 (CAGE): breadth broad, TPM avg 2.9207 / max 92.4309, expressed in 857 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65964 | 2.4943 | 843 |
| 65963 | 0.2655 | 104 |
| 65965 | 0.1609 | 62 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.25 | silver quality |
| cortical plate | UBERON:0005343 | 96.70 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.57 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.47 | gold quality |
| pons | UBERON:0000988 | 89.62 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.69 | gold quality |
| ventricular zone | UBERON:0003053 | 87.57 | gold quality |
| postcentral gyrus | UBERON:0002581 | 84.26 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 83.60 | gold quality |
| parietal lobe | UBERON:0001872 | 83.48 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.34 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 83.34 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.26 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 83.01 | gold quality |
| cerebellum | UBERON:0002037 | 82.86 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.22 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.12 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 81.74 | gold quality |
| medulla oblongata | UBERON:0001896 | 81.71 | gold quality |
| cerebral cortex | UBERON:0000956 | 81.56 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.53 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 81.51 | gold quality |
| neocortex | UBERON:0001950 | 81.17 | gold quality |
| entorhinal cortex | UBERON:0002728 | 81.13 | gold quality |
| medial globus pallidus | UBERON:0002477 | 80.95 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.89 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 80.67 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 80.51 | gold quality |
| secondary oocyte | CL:0000655 | 80.25 | gold quality |
| frontal cortex | UBERON:0001870 | 80.04 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
111 targeting RNF182, 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-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
Literature-anchored findings (GeneRIF, showing 3)
- E3 ubiquitin ligase RNF182 is highly expressed in macrophages and is specifically upregulated by Toll-like receptors (TLR) stimuli (TLR4, TLR3 and TLR9 agonists). Knockdown of RNF182 selectively amplifies TLR signaling by promoting the production of proinflammatory cytokines but not type I interferons in macrophages. (PMID:31432514)
- The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function. (PMID:32486221)
- RNF182 induces p65 ubiquitination to affect PDL1 transcription and suppress immune evasion in lung adenocarcinoma. (PMID:37249301)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rnf182 | ENSDARG00000061049 |
| mus_musculus | Rnf182 | ENSMUSG00000044164 |
| rattus_norvegicus | Rnf182 | ENSRNOG00000018070 |
| drosophila_melanogaster | roq | FBGN0036621 |
Paralogs (5): RC3H2 (ENSG00000056586), RC3H1 (ENSG00000135870), RNF227 (ENSG00000179859), RNF224 (ENSG00000233198), RNF228 (ENSG00000288658)
Protein
Protein identifiers
E3 ubiquitin-protein ligase RNF182 — Q8N6D2 (reviewed: Q8N6D2)
Alternative names: RING finger protein 182, RING-type E3 ubiquitin transferase RNF182
All UniProt accessions (5): C9IZ30, C9JAJ3, C9JAK6, C9JVS8, Q8N6D2
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C and targets it to degradation via the ubiquitin-proteasome pathway. Also plays a role in the inhibition of TLR-triggered innate immune response by mediating ‘Lys’-48-linked ubiquitination and subsequent degradation of NF-kappa-B component RELA.
Subunit / interactions. Interacts with ATP6V0C.
Subcellular location. Membrane. Cytoplasm.
Tissue specificity. Up-regulated in neuronal cells subjected to cell death-inducing injuries, such as oxygen and glucose deprivation (at protein level). Could be up-regulated in Alzheimer disease brains. Highly expressed in innate immune organs such as lymph nodes and spleen and in immune cells such as macrophages and dendritic cells.
Domain organisation. The RING-type zinc finger domain is required for E3 ligase activity.
Pathway. Protein modification; protein ubiquitination.
RefSeq proteins (4): NP_001158504, NP_001158505, NP_001158506, NP_689950* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR042285 | RNF182 | Family |
| IPR047986 | RNF182_RING-HC | Domain |
UniProt features (8 total): transmembrane region 2, sequence variant 2, sequence conflict 2, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N6D2-F1 | 70.67 | 0.20 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 112 (showing top):
REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, AREB6_03, TAL1ALPHAE47_01, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_DN, BACH2_01, TGTGTGA_MIR377, PETRETTO_LEFT_VENTRICLE_MASS_QTL_CIS_UP, TGANTCA_AP1_C, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, AACTTT_UNKNOWN, IK2_01, TAL1BETAE47_01
GO Biological Process (1): protein ubiquitination (GO:0016567)
GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
478 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RNF182 | RNF186 | Q9NXI6 | 576 |
| RNF182 | RNF175 | Q8N4F7 | 503 |
| RNF182 | TBC1D30 | Q9Y2I9 | 491 |
| RNF182 | LHFPL2 | Q6ZUX7 | 477 |
| RNF182 | ZNRF4 | Q8WWF5 | 476 |
| RNF182 | GID4 | Q8IVV7 | 470 |
| RNF182 | OCIAD2 | Q56VL3 | 469 |
| RNF182 | RNF150 | Q9ULK6 | 467 |
| RNF182 | ATP6V0C | P27449 | 462 |
| RNF182 | ARHGAP12 | Q8IWW6 | 415 |
| RNF182 | A0A2R8Y4M4 | A0A2R8Y4M4 | 397 |
| RNF182 | SLC39A6 | Q13433 | 389 |
| RNF182 | NRIP3 | Q9NQ35 | 385 |
| RNF182 | MATCAP2 | Q8NCT3 | 380 |
| RNF182 | SYTL2 | Q9HCH5 | 359 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RNF182 | UBE2N | psi-mi:“MI:0915”(physical association) | 0.590 |
| UBE2D1 | RNF182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2K | RNF182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2L3 | RNF182 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UBE2L3 | RNF182 | psi-mi:“MI:0915”(physical association) | 0.000 |
| RNF182 | UBA1 | psi-mi:“MI:0220”(ubiquitination reaction) | 0.000 |
BioGRID (18): RNF182 (Two-hybrid), RNF182 (Two-hybrid), UBE2L3 (Two-hybrid), RNF182 (Affinity Capture-RNA), RNF182 (Two-hybrid), RNF182 (Affinity Capture-Western), PCDHB14 (Affinity Capture-Western), RNF182 (Affinity Capture-Western), RELA (Affinity Capture-Western), RNF182 (Proximity Label-MS), RNF182 (Affinity Capture-Western), RNF182 (Reconstituted Complex), RNF182 (Two-hybrid), RNF182 (Affinity Capture-RNA), UBC (Biochemical Activity)
ESM2 similar proteins: A6NCL7, A6NCQ9, A6QP29, A6QQV9, B1AVH7, B5DFA1, D2H0G5, D2H6Z0, D2H788, D3ZBM4, D4A723, E1C2W7, O95153, Q0QWG9, Q3SWY0, Q3T0Y9, Q3U0L2, Q3UV31, Q3V3A7, Q5RF77, Q60943, Q6INB3, Q6PGG2, Q7TNF8, Q7Z465, Q80TI1, Q810L3, Q8BG47, Q8BRJ3, Q8BXP5, Q8C0R7, Q8C432, Q8CEF8, Q8HYZ0, Q8N0U2, Q8N6D2, Q8N8N0, Q8NC24, Q8QZS5, Q8TED9
Diamond homologs: A0A7I2V3R4, D2H788, D3ZBM4, O70277, O75382, P0DH78, Q3SWY0, Q3UIW8, Q58EC8, Q68EV7, Q6INB3, Q8C432, Q8N6D2, Q8QZS5, Q96D59, Q9BRZ2, Q9R1R2, A6NIN4, Q9DCB3, Q13049, Q3T0Y9, Q6IMG5, Q8CH72, Q8K0W3, Q9FY48, Q9H0X6, Q9NXI6, A5D8S5, D2H6Z0, D4A723, E1C2W7, M0QZC1, O60858, P0CG21, Q11072, Q32L60, Q3UP44, Q4VGL6, Q5M7V1, Q5TC82
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RNF182 | ubiquitination |
| RNF182 | “down-regulates quantity by destabilization” | ATP6V0C | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 32 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1065 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:13974363:GA:G | donor_gain | 1.0000 |
| 6:13974365:G:GG | donor_gain | 1.0000 |
| 6:13976907:A:AG | acceptor_gain | 1.0000 |
| 6:13976908:G:GG | acceptor_gain | 1.0000 |
| 6:13973330:T:G | donor_gain | 0.9900 |
| 6:13973346:T:G | donor_gain | 0.9900 |
| 6:13924482:ACC:A | donor_gain | 0.9800 |
| 6:13931662:A:AG | acceptor_gain | 0.9800 |
| 6:13974205:TCCA:T | acceptor_loss | 0.9800 |
| 6:13974206:CCAGG:C | acceptor_loss | 0.9800 |
| 6:13974207:CA:C | acceptor_loss | 0.9800 |
| 6:13974208:AGGA:A | acceptor_loss | 0.9800 |
| 6:13974360:TTAGA:T | donor_gain | 0.9800 |
| 6:13974364:AG:A | donor_loss | 0.9800 |
| 6:13974365:G:GA | donor_loss | 0.9800 |
| 6:13974366:TAG:T | donor_loss | 0.9800 |
| 6:13974368:GGTA:G | donor_loss | 0.9800 |
| 6:13974369:G:C | donor_loss | 0.9800 |
| 6:13976903:TTACA:T | acceptor_loss | 0.9800 |
| 6:13976904:TACA:T | acceptor_loss | 0.9800 |
| 6:13976905:ACAG:A | acceptor_loss | 0.9800 |
| 6:13976906:CA:C | acceptor_loss | 0.9800 |
| 6:13976907:A:C | acceptor_loss | 0.9800 |
| 6:13976908:GAC:G | acceptor_gain | 0.9800 |
| 6:13925020:CCAGG:C | donor_loss | 0.9700 |
| 6:13925021:CAGGT:C | donor_loss | 0.9700 |
| 6:13925022:AGGT:A | donor_loss | 0.9700 |
| 6:13925023:GGT:G | donor_loss | 0.9700 |
| 6:13925024:G:GC | donor_loss | 0.9700 |
| 6:13925025:T:G | donor_loss | 0.9700 |
AlphaMissense
1608 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:13977177:T:A | C20S | 1.000 |
| 6:13977177:T:C | C20R | 1.000 |
| 6:13977178:G:A | C20Y | 1.000 |
| 6:13977178:G:C | C20S | 1.000 |
| 6:13977179:C:G | C20W | 1.000 |
| 6:13977184:T:A | I22N | 1.000 |
| 6:13977184:T:C | I22T | 1.000 |
| 6:13977184:T:G | I22S | 1.000 |
| 6:13977186:T:A | C23S | 1.000 |
| 6:13977186:T:C | C23R | 1.000 |
| 6:13977187:G:A | C23Y | 1.000 |
| 6:13977187:G:C | C23S | 1.000 |
| 6:13977187:G:T | C23F | 1.000 |
| 6:13977188:T:G | C23W | 1.000 |
| 6:13977198:T:G | Y27D | 1.000 |
| 6:13977199:A:C | Y27S | 1.000 |
| 6:13977219:C:A | P34T | 1.000 |
| 6:13977219:C:T | P34S | 1.000 |
| 6:13977220:C:A | P34H | 1.000 |
| 6:13977224:A:C | K35N | 1.000 |
| 6:13977224:A:T | K35N | 1.000 |
| 6:13977229:T:C | L37P | 1.000 |
| 6:13977234:T:A | C39S | 1.000 |
| 6:13977234:T:C | C39R | 1.000 |
| 6:13977235:G:C | C39S | 1.000 |
| 6:13977236:T:G | C39W | 1.000 |
| 6:13977240:C:G | H41D | 1.000 |
| 6:13977242:T:A | H41Q | 1.000 |
| 6:13977242:T:G | H41Q | 1.000 |
| 6:13977249:T:A | C44S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004207 (6:13932037 C>G), RS1000012516 (6:13973423 G>A,T), RS1000107970 (6:13967328 GT>G), RS1000223739 (6:13948191 C>T), RS1000227378 (6:13979414 G>T), RS1000235828 (6:13949146 T>C), RS1000267218 (6:13943142 A>G), RS1000294328 (6:13923596 A>G), RS1000371833 (6:13954883 G>A,C,T), RS1000403078 (6:13930436 C>T), RS1000408428 (6:13972865 C>A), RS1000431146 (6:13955155 T>C), RS1000435565 (6:13930089 A>G), RS1000469913 (6:13979781 A>G), RS1000554873 (6:13978147 GA>G)
Disease associations
OMIM: gene MIM:621026 | disease phenotypes: MIM:603047, MIM:312080
GenCC curated gene-disease
Mondo (7): amblyopia (MONDO:0001020), microcephaly (MONDO:0001149), strabismus (MONDO:0003432), hyperopia (MONDO:0004891), allergic disease (MONDO:0005271), astigmatism (MONDO:0011284), leukodystrophy (MONDO:0019046)
Orphanet (1): Leukodystrophy (Orphanet:68356)
HPO phenotypes
3 total (3 of 3 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000646 | Amblyopia |
| HP:0000252 | Microcephaly |
| HP:0000483 | Astigmatism |
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001826_8 | Lymphoma | 6.000000e-07 |
| GCST004605_27 | Mean corpuscular hemoglobin concentration | 6.000000e-18 |
| GCST009391_749 | Metabolite levels | 8.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0010390 | sphingomyelin 14:0 measurement |
MeSH disease descriptors (6)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D000550 | Amblyopia | C10.228.140.055; C10.597.751.941.073; C11.966.073; C23.888.592.763.941.073 |
| D001251 | Astigmatism | C11.744.212 |
| D006956 | Hyperopia | C11.744.479 |
| D006967 | Hypersensitivity | C20.543 |
| D008831 | Microcephaly | C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500 |
| D013285 | Strabismus | C10.292.562.887; C11.590.810 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| trichostatin A | increases expression, affects cotreatment, decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| sotorasib | decreases expression, affects cotreatment | 1 |
| propionaldehyde | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ormosil | affects binding, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| trametinib | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| MT19c compound | increases expression | 1 |
| NVP-BKM120 | affects cotreatment, 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 | decreases expression | 1 |
| Aldehydes | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Doxorubicin | increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Polyethylene Glycols | affects binding, increases expression | 1 |
Clinical trials (associated diseases)
277 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00094614 | PHASE4 | COMPLETED | Trial Comparing Daily Atropine Versus Weekend Atropine |
| NCT03109314 | PHASE4 | COMPLETED | Combining Donepezil With Perceptual Learning in Normal and Amblyopic Human The Effect of Donepezil on Perceptual Learning in Adult Amblyopia |
| NCT00461656 | PHASE4 | COMPLETED | Povidone-iodine Antisepsis for Strabismus Surgery |
| NCT01901588 | PHASE4 | COMPLETED | Efficacy of Single-Shot Dexmedetomidine Versus Placebo in Preventing Pediatric Emergence Delirium in Strabismus Surgery |
| NCT02379546 | PHASE4 | COMPLETED | The Effect of Anaesthesia Depth on Oculo-cardiac Reflex |
| NCT03349515 | PHASE4 | COMPLETED | The Effect of Povidone-iodine Ophthalmic Surgical Prep Solution on Respiration in Children Undergoing Strabismus Surgery With General Anesthesia. |
| NCT04549844 | PHASE4 | UNKNOWN | Peribulbar Block for Prevention of Oculocardiac Reflex |
| NCT06035757 | PHASE4 | RECRUITING | The Occurrence of Emergence Agitation in Pediatric Strabismus Surgery |
| NCT06560268 | PHASE4 | NOT_YET_RECRUITING | Low Flow Anesthesia in Children Undergoing Strabismus Surgery |
| NCT00347204 | PHASE4 | COMPLETED | Comparison of Acular LS Versus Nevanac for Pain Control in Eyes Undergoing PRK |
| NCT00455455 | PHASE4 | COMPLETED | Corneal and Conjunctival Sensitivity and Staining Study |
| NCT00937105 | PHASE4 | COMPLETED | Daily Wear Corneal Infiltrative Event Study |
| NCT01387360 | PHASE4 | COMPLETED | Presbyopic Supracor Treatment for Near Myopic/Hyperopic Pseudophakic Eyes |
| NCT01977807 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser in Asian Eyes Using LASIK |
| NCT02071576 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of the 500 Hz Technolas Perfect Vision Excimer Laser Using LASIK |
| NCT02112968 | PHASE4 | UNKNOWN | A Prospective Safety and Effectiveness Study of a New High Repetition Rate Excimer Laser Using LASIK for the Correction of Ammetropia and Presbyopia |
| NCT03881670 | PHASE4 | COMPLETED | On-Eye Optical Quality of Lotrafilcon B Lenses Over 12 Hours |
| NCT04208750 | PHASE4 | COMPLETED | Clinical Investigation of the Vision-R800 Device. |
| NCT04283331 | PHASE4 | UNKNOWN | Anesthetic Impregnated Bandage Soft Contact Lens (BSCL) in Pain Management After Photorefractive Keratectomy (PRK) |
| NCT00000170 | PHASE3 | COMPLETED | Occlusion Versus Pharmacologic Therapy for Moderate Amblyopia |
| NCT00001864 | PHASE3 | COMPLETED | Amblyopia (Lazy Eye) Treatment Study |
| NCT00038753 | PHASE3 | UNKNOWN | Vision In Preschoolers Study (VIP Study) |
| NCT00091923 | PHASE3 | COMPLETED | Trial to Evaluate 2 Hours of Daily Patching for Amblyopia in Children |
| NCT00094679 | PHASE3 | COMPLETED | Trial Comparing Part-time Versus Minimal-time Patching for Moderate Amblyopia |
| NCT00094692 | PHASE3 | COMPLETED | An Evaluation of Treatment of Amblyopia in Children 7 To <18 Years Old |
| NCT00094744 | PHASE3 | COMPLETED | Trial Comparing Part-time Versus Full-time Patching for Severe Amblyopia |
| NCT00131729 | PHASE3 | COMPLETED | Electronic Recording of Compliance With Occlusion Therapy for Amblyopia |
| NCT00315198 | PHASE3 | COMPLETED | Trial Comparing Near Versus Distance Activities While Patching for Amblyopia in Children 3 to <7 Years Old |
| NCT00315302 | PHASE3 | COMPLETED | Trial Comparing Atropine to Atropine Plus a Plano Lens for the Sound Eye for Amblyopia in Children 3 to <7 Years Old |
| NCT00315328 | PHASE3 | COMPLETED | Trial Comparing Patching Versus Atropine for Amblyopia in 7 to < 13 Year Olds |
| NCT00506675 | PHASE3 | TERMINATED | Combined Patching-Atropine for Residual Amblyopia |
| NCT00525174 | PHASE3 | COMPLETED | Full-time Bangerter Filters Versus Part-time Daily Patching for Moderate Amblyopia in Children |
| NCT00587171 | PHASE3 | TERMINATED | Trial Comparing Patching With Active Vision Therapy to Patching With Control Vision Therapy as Treatment for Amblyopia |
| NCT00944710 | PHASE3 | COMPLETED | Augmenting Atropine Treatment for Amblyopia in Children 3 to < 8 Years Old |
| NCT00945100 | PHASE3 | COMPLETED | Increasing Patching for Amblyopia in Children 3 to < 8 Years Old |
| NCT01190813 | PHASE3 | COMPLETED | Levodopa for the Treatment of Residual Amblyopia |
| NCT04378790 | PHASE3 | RECRUITING | A Randomized Trial to Evaluate Sequential vs Simultaneous Patching |
| NCT06380517 | PHASE3 | RECRUITING | Dichoptic Treatment for Amblyopia in Children 4 to 7 Years of Age |
| NCT06524882 | PHASE3 | RECRUITING | Dichoptic Treatment for Amblyopia in Children 8 to 12 Years of Age |
| NCT00000128 | PHASE3 | UNKNOWN | A Trial of Bifocals in Myopic Children With Esophoria |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amblyopia, astigmatism, hyperopia, leukodystrophy, lymphoma, strabismus