DOK6
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Also known as MGC20785HsT3226
Summary
DOK6 (docking protein 6, HGNC:28301) is a protein-coding gene on chromosome 18q22.2, encoding Docking protein 6 (Q6PKX4). DOK proteins are enzymatically inert adaptor or scaffolding proteins.
DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).
Source: NCBI Gene 220164 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 47 total — 1 pathogenic
- MANE Select transcript:
NM_152721
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28301 |
| Approved symbol | DOK6 |
| Name | docking protein 6 |
| Location | 18q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC20785, HsT3226 |
| Ensembl gene | ENSG00000206052 |
| Ensembl biotype | protein_coding |
| OMIM | 611402 |
| Entrez | 220164 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000382713, ENST00000577609, ENST00000582172, ENST00000582992, ENST00000584435, ENST00000893242
RefSeq mRNA: 1 — MANE Select: NM_152721
NM_152721
CCDS: CCDS32841
Canonical transcript exons
ENST00000382713 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001493062 | 69841244 | 69849087 |
| ENSE00001493065 | 69738965 | 69739103 |
| ENSE00001493068 | 69599384 | 69599498 |
| ENSE00001493069 | 69564487 | 69564594 |
| ENSE00001493070 | 69400888 | 69401310 |
| ENSE00003503750 | 69757756 | 69757873 |
| ENSE00003568234 | 69677734 | 69677853 |
| ENSE00003649691 | 69698404 | 69698593 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 95.81.
FANTOM5 (CAGE): breadth broad, TPM avg 2.2407 / max 58.2956, expressed in 707 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170704 | 2.2407 | 707 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 95.81 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.74 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.14 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 93.06 | gold quality |
| pons | UBERON:0000988 | 93.02 | gold quality |
| endothelial cell | CL:0000115 | 91.42 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.35 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.48 | gold quality |
| entorhinal cortex | UBERON:0002728 | 88.87 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 88.83 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 88.23 | gold quality |
| ventral tegmental area | UBERON:0002691 | 87.98 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.88 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 87.78 | gold quality |
| cerebellar vermis | UBERON:0004720 | 86.83 | gold quality |
| temporal lobe | UBERON:0001871 | 86.80 | gold quality |
| parietal lobe | UBERON:0001872 | 85.66 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 85.65 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.54 | gold quality |
| medulla oblongata | UBERON:0001896 | 85.14 | gold quality |
| amygdala | UBERON:0001876 | 85.13 | gold quality |
| postcentral gyrus | UBERON:0002581 | 84.82 | gold quality |
| kidney epithelium | UBERON:0004819 | 84.74 | silver quality |
| anterior cingulate cortex | UBERON:0009835 | 84.71 | gold quality |
| cerebral cortex | UBERON:0000956 | 84.49 | gold quality |
| frontal cortex | UBERON:0001870 | 84.40 | gold quality |
| neocortex | UBERON:0001950 | 84.40 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.91 | gold quality |
| sural nerve | UBERON:0015488 | 83.55 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 83.30 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 428.11 |
| E-MTAB-7316 | yes | 37.50 |
| E-GEOD-137537 | yes | 17.51 |
| E-HCAD-25 | yes | 7.61 |
| E-MTAB-7381 | no | 49.99 |
| E-ANND-3 | no | 5.99 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
308 targeting DOK6, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
Literature-anchored findings (GeneRIF, showing 3)
- Dok-6 binds to the phosphorylated Ret Tyr(1062) residue resulting in phosphorylation of tyrosine residue(s) located within the unique C terminus of Dok-6 predominantly through a Src-dependent mechanism (PMID:15286081)
- DOK-6 is involved in RET signaling with less influence when compared with DOK-1, DOK-4, and SHC. (PMID:20210798)
- Association between ABHD1 and DOK6 polymorphisms and susceptibility to Hirschsprung disease in Southern Chinese children. (PMID:34545688)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dok6 | ENSDARG00000063032 |
| mus_musculus | Dok6 | ENSMUSG00000073514 |
| rattus_norvegicus | Dok6 | ENSRNOG00000038190 |
| drosophila_melanogaster | Dok | FBGN0029944 |
| drosophila_melanogaster | CG13398 | FBGN0032042 |
| caenorhabditis_elegans | WBGENE00018819 |
Paralogs (7): DOK5 (ENSG00000101134), DOK1 (ENSG00000115325), DOK4 (ENSG00000125170), FRS3 (ENSG00000137218), DOK3 (ENSG00000146094), DOK2 (ENSG00000147443), FRS2 (ENSG00000166225)
Protein
Protein identifiers
Docking protein 6 — Q6PKX4 (reviewed: Q6PKX4)
Alternative names: Downstream of tyrosine kinase 6
All UniProt accessions (2): Q6PKX4, J3KTH4
UniProt curated annotations — full annotation on UniProt →
Function. DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret-mediated neurite growth. May have a role in brain development and/or maintenance.
Subunit / interactions. Interacts via its PTB domain with phosphorylated RET.
Tissue specificity. Highly expressed in fetal and adult brain. Highly expressed in the cerebellum. Weak expression in kidney, spinal cord and testis.
Post-translational modifications. On Ret activation, phosphorylated on one or more C-terminal tyrosine residues by an Src family kinase.
Domain organisation. PTB domain mediates receptor interaction.
Similarity. Belongs to the DOK family. Type B subfamily.
RefSeq proteins (1): NP_689934* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001849 | PH_domain | Domain |
| IPR002404 | IRS_PTB | Domain |
| IPR011993 | PH-like_dom_sf | Homologous_superfamily |
| IPR037816 | DOK4/5/6_PH | Domain |
| IPR050996 | Docking_Protein_DOK | Family |
Pfam: PF00169, PF02174
UniProt features (7 total): domain 2, chain 1, region of interest 1, short sequence motif 1, compositionally biased region 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PKX4-F1 | 74.63 | 0.45 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8853659 | RET signaling |
MSigDB gene sets: 99 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, BENPORATH_ES_WITH_H3K27ME3, TGCGCANK_UNKNOWN, MARTIN_VIRAL_GPCR_SIGNALING_UP, ATTCTTT_MIR186, chr18q22, CAMPS_COLON_CANCER_COPY_NUMBER_UP, GOMF_SIGNALING_ADAPTOR_ACTIVITY, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, FIGUEROA_AML_METHYLATION_CLUSTER_1_UP, REACTOME_RET_SIGNALING, NRF1_Q6, REACTOME_NERVOUS_SYSTEM_DEVELOPMENT, HMG20B_TARGET_GENES, SOX3_TARGET_GENES
GO Biological Process (1): cell surface receptor protein tyrosine kinase signaling pathway (GO:0007169)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Axon guidance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| enzyme-linked receptor protein signaling pathway | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DOK6 | GDNF | P39905 | 557 |
| DOK6 | CCDC102B | Q68D86 | 545 |
| DOK6 | RET | P07949 | 515 |
| DOK6 | RTTN | Q86VV8 | 512 |
| DOK6 | PLEK2 | Q9NYT0 | 498 |
| DOK6 | PLEK | P08567 | 474 |
| DOK6 | EFR3A | Q14156 | 462 |
| DOK6 | DOK7 | Q18PE1 | 460 |
| DOK6 | COL5A2 | P05997 | 431 |
| DOK6 | SEMA3E | O15041 | 396 |
| DOK6 | CCDC61 | Q9Y6R9 | 388 |
| DOK6 | STUM | Q69YW2 | 377 |
| DOK6 | QTGAL | Q67FW5 | 370 |
| DOK6 | H3BTC1 | H3BTC1 | 370 |
| DOK6 | IRS4 | O14654 | 369 |
IntAct
58 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| C1orf94 | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RBPMS | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | C1orf94 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | RBPMS | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | USP54 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LASP1 | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | FAM86C1P | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | METTL27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARID5A | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CRYBB3 | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| DOK6 | TBX15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC30A6 | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | LGALS14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | RUSC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | ABHD11 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE5 | DOK6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK6 | NTRK3 | psi-mi:“MI:0915”(physical association) | 0.550 |
| DOK6 | NTF3 | psi-mi:“MI:0914”(association) | 0.460 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| DOK6 | EGFR | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DOK6 | ERBB2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DOK6 | CNN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| DOK6 | USP54 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (25): DOK6 (Two-hybrid), DOK6 (Two-hybrid), RET (Affinity Capture-Western), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid), DOK6 (Two-hybrid)
ESM2 similar proteins: A2VEA3, A5PKA5, A7MB76, O70133, O89050, P09851, P17427, P18484, P20595, P20936, P49336, P50904, P79101, P97834, Q08211, Q12800, Q28141, Q2MHE5, Q2TBL9, Q32NS4, Q3MHJ2, Q3UHD6, Q5M887, Q5R4Q7, Q5R874, Q5RB35, Q5RBN9, Q5RCG0, Q6GR10, Q6P5H6, Q6PKX4, Q7SXR3, Q7T2U9, Q7Z6J6, Q86TJ2, Q8K4V4, Q8N653, Q8R3L8, Q8R3S6, Q96DM3
Diamond homologs: A3R064, A7MBB8, B2RYG7, O43559, O60496, O70469, P97465, Q2MHE5, Q4QQV2, Q52RG8, Q5EA84, Q5RA30, Q6PKX4, Q7L591, Q8C180, Q8TEW6, Q8WU20, Q91WJ0, Q91ZM9, Q99704, Q99KE3, Q9P104, Q9QZK7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RET | up-regulates | DOK6 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1526633 | GRCh37/hg19 18q22.1-23(chr18:64340599-77273893) | Pathogenic |
SpliceAI
4032 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:69401278:GGC:G | donor_gain | 1.0000 |
| 18:69401301:G:GT | donor_gain | 1.0000 |
| 18:69401307:TGGGG:T | donor_loss | 1.0000 |
| 18:69401308:GGG:G | donor_gain | 1.0000 |
| 18:69401309:GG:G | donor_gain | 1.0000 |
| 18:69401309:GGG:G | donor_gain | 1.0000 |
| 18:69401310:GG:G | donor_gain | 1.0000 |
| 18:69401311:G:GG | donor_gain | 1.0000 |
| 18:69401312:T:A | donor_loss | 1.0000 |
| 18:69564485:A:AG | acceptor_gain | 1.0000 |
| 18:69564486:G:GA | acceptor_gain | 1.0000 |
| 18:69564486:G:GC | acceptor_loss | 1.0000 |
| 18:69564486:GAT:G | acceptor_gain | 1.0000 |
| 18:69564592:AAGGT:A | donor_loss | 1.0000 |
| 18:69564595:G:T | donor_loss | 1.0000 |
| 18:69564596:T:A | donor_loss | 1.0000 |
| 18:69599378:TTCAA:T | acceptor_loss | 1.0000 |
| 18:69599379:TCAA:T | acceptor_loss | 1.0000 |
| 18:69599380:CAA:C | acceptor_loss | 1.0000 |
| 18:69599381:A:AG | acceptor_gain | 1.0000 |
| 18:69599381:AAG:A | acceptor_gain | 1.0000 |
| 18:69599382:A:AT | acceptor_loss | 1.0000 |
| 18:69599382:A:G | acceptor_gain | 1.0000 |
| 18:69599383:G:GG | acceptor_gain | 1.0000 |
| 18:69599383:G:GT | acceptor_loss | 1.0000 |
| 18:69599494:GTCAG:G | donor_gain | 1.0000 |
| 18:69599495:TCAG:T | donor_loss | 1.0000 |
| 18:69599496:CAG:C | donor_loss | 1.0000 |
| 18:69599497:AGGTA:A | donor_loss | 1.0000 |
| 18:69599498:GGT:G | donor_loss | 1.0000 |
AlphaMissense
2195 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:69401278:G:C | G12R | 1.000 |
| 18:69401278:G:T | G12C | 1.000 |
| 18:69401279:G:A | G12D | 1.000 |
| 18:69401279:G:T | G12V | 1.000 |
| 18:69401285:T:A | V14E | 1.000 |
| 18:69564502:T:A | W28R | 1.000 |
| 18:69564502:T:C | W28R | 1.000 |
| 18:69564503:G:C | W28S | 1.000 |
| 18:69564504:G:C | W28C | 1.000 |
| 18:69564504:G:T | W28C | 1.000 |
| 18:69564509:T:A | V30D | 1.000 |
| 18:69564516:G:C | K32N | 1.000 |
| 18:69564516:G:T | K32N | 1.000 |
| 18:69564532:G:A | G38R | 1.000 |
| 18:69564532:G:C | G38R | 1.000 |
| 18:69564533:G:A | G38E | 1.000 |
| 18:69564542:G:C | R41T | 1.000 |
| 18:69564542:G:T | R41M | 1.000 |
| 18:69564543:G:C | R41S | 1.000 |
| 18:69564543:G:T | R41S | 1.000 |
| 18:69564545:T:C | L42S | 1.000 |
| 18:69564553:T:C | F45L | 1.000 |
| 18:69564555:T:A | F45L | 1.000 |
| 18:69564555:T:G | F45L | 1.000 |
| 18:69564572:C:A | A51D | 1.000 |
| 18:69599412:T:A | I68K | 1.000 |
| 18:69599484:T:C | F92S | 1.000 |
| 18:69599489:T:C | C94R | 1.000 |
| 18:69599490:G:A | C94Y | 1.000 |
| 18:69599491:T:G | C94W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000181 (18:69684720 A>G), RS1000003496 (18:69421599 G>C), RS1000004317 (18:69417253 C>G,T), RS1000005556 (18:69691097 A>C), RS1000011133 (18:69541676 C>A), RS1000018623 (18:69546315 T>A,C), RS1000019574 (18:69703141 T>C), RS1000021533 (18:69835395 G>A), RS1000031026 (18:69464590 A>G), RS1000033864 (18:69793170 A>G), RS1000038887 (18:69716388 A>G), RS1000039437 (18:69542560 C>G,T), RS1000044619 (18:69458182 C>G), RS1000051168 (18:69546551 A>G), RS1000054808 (18:69582767 A>G)
Disease associations
OMIM: gene MIM:611402 | disease phenotypes: MIM:189800
GenCC curated gene-disease
Mondo (1): preeclampsia (MONDO:0005081)
Orphanet (1): Preeclampsia (Orphanet:275555)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000698_7 | Osteoporosis-related phenotypes | 9.000000e-07 |
| GCST002343_9 | Response to cytidine analogues (gemcitabine) | 1.000000e-06 |
| GCST004403_8 | Bone fracture in osteoporosis | 8.000000e-06 |
| GCST004574_14 | Skin aging (microtopography measurement) | 1.000000e-06 |
| GCST004970_28 | Caudate activity during reward | 6.000000e-08 |
| GCST005024_25 | Pursuit maintenance gain | 8.000000e-06 |
| GCST008167_5 | Mean platelet volume | 3.000000e-11 |
| GCST010170_5 | Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect) | 3.000000e-06 |
| GCST90002401_565 | Platelet distribution width | 2.000000e-13 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008387 | caudate nucleus measurement |
| EFO:0008396 | response to reward |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0007984 | platelet component distribution width |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D011225 | Pre-Eclampsia | C12.050.703.395.249 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation, increases methylation | 5 |
| Aflatoxin B1 | decreases expression, decreases methylation, affects response to substance | 4 |
| bisphenol S | increases expression, affects cotreatment, decreases methylation | 2 |
| Vorinostat | affects cotreatment, increases expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, affects methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Irinotecan | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation, decreases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methotrexate | increases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Quercetin | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00117546 | PHASE4 | UNKNOWN | Cardiovascular and Autonomic Reactivity in Women With a History of Pre-eclampsia |
| NCT00567957 | PHASE4 | UNKNOWN | Remifentanil for General Anesthesia in Preeclamptics |
| NCT01030627 | PHASE4 | COMPLETED | Treatment Approaches to Preeclampsia |
| NCT01352234 | PHASE4 | COMPLETED | Comparison of Doses of Acetylsalicylic Acid in Women With Previous History of Preeclampsia |
| NCT01361425 | PHASE4 | UNKNOWN | Anti-Hypertensive Treatment In Stable Pregnant Women With Severe Pre-Eclampsia (Metildopape) |
| NCT01729468 | PHASE4 | COMPLETED | Prevention of Pre-eclampsia and SGA by Low-Dose Aspirin in Nulliparous Women With Abnormal First-trimester Uterine Artery Dopplers |
| NCT01761916 | PHASE4 | COMPLETED | Clonidine Versus Captopril for Treatment of Postpartum Very High Blood Pressure |
| NCT01912677 | PHASE4 | COMPLETED | Oral Antihypertensive Regimens for Management of Hypertension in Pregnancy |
| NCT02025426 | PHASE4 | TERMINATED | Phenylephrine Versus Ephedrine in Pre-eclampsia |
| NCT02091401 | PHASE4 | COMPLETED | A Trial Comparing Treatment With the Springfusor Infusion Pump to the IV Magnesium Sulfate Regimen |
| NCT02163655 | PHASE4 | COMPLETED | Diuretics for Postpartum High Blood Pressure in Preeclampsia |
| NCT02338687 | PHASE4 | COMPLETED | Low Dose Calcium to Prevent Preeclampsia |
| NCT02396030 | PHASE4 | TERMINATED | Different Schemes of Magnesium Sulfate for Preeclampsia |
| NCT02531490 | PHASE4 | UNKNOWN | Early Vascular Adjustments During Hypertensive Pregnancy |
| NCT02699827 | PHASE4 | COMPLETED | Adding MgSO4 to Epidural Levobupivacaine in CS for Patients With Preeclampsia |
| NCT02835339 | PHASE4 | COMPLETED | Magnesium Sulfate in Obese Preeclamptics |
| NCT02891174 | PHASE4 | COMPLETED | The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy |
| NCT02911701 | PHASE4 | COMPLETED | Effect of Acetaminophen on Postpartum Blood Pressure Control in Preeclampsia With Severe Features |
| NCT03171480 | PHASE4 | COMPLETED | Use of Nitrous Oxide Donor for Labor Induction in Women With PreEclampsia |
| NCT03233880 | PHASE4 | UNKNOWN | Impact of Antichlamydial Treatment on the Rate of Preeclampsia |
| NCT03237000 | PHASE4 | UNKNOWN | Effect of Administering Intravenous Magnesium Sulfate on Fetal Cardiotocography and Neonatal Outcome in Preeclamptic Patients |
| NCT03506724 | PHASE4 | COMPLETED | Response to Anti-hypertensives in Pregnant and Postpartum Patients |
| NCT03674606 | PHASE4 | COMPLETED | Trial of Early Screening Test for Pre-eclampsia and Growth Restriction |
| NCT03735433 | PHASE4 | TERMINATED | The Effect of Two Aspirin Dosing Strategies for Obese Women at High Risk for Preeclampsia |
| NCT03824119 | PHASE4 | UNKNOWN | Postpartum NSAIDS and Maternal Hypertension |
| NCT04051567 | PHASE4 | UNKNOWN | Low-dose Aspirin for Prevention of Adverse Pregnancy Outcomes in Twin Pregnancies |
| NCT04077853 | PHASE4 | COMPLETED | Progesterone in Expectantly Managed Early-onset Preeclampsia |
| NCT04158830 | PHASE4 | WITHDRAWN | Aspirin (ASA) Therapy and Preeclampsia Prevention |
| NCT04424693 | PHASE4 | UNKNOWN | Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 or at Week 36 |
| NCT04631627 | PHASE4 | UNKNOWN | Early Prediction and Randomised Prevention of Preeclampsia With Low Dose Aspirin in Chinese Cohort |
| NCT04656665 | PHASE4 | UNKNOWN | The Effectiveness of Aspirin on Preventing Pre-eclampsia |
| NCT04797949 | PHASE4 | WITHDRAWN | Adherence to Universal Aspirin Compared to Screening Indicated Aspirin for Prevention of Preeclampsia |
| NCT04908982 | PHASE4 | UNKNOWN | Aspirin for the Prevention of Preeclampsia in Women With Stage 1 Hypertension |
| NCT05221164 | PHASE4 | UNKNOWN | 162 mg of Aspirin for Prevention of Preeclampsia |
| NCT05294952 | PHASE4 | UNKNOWN | co Ihibtory Receptor in Preeclampsia |
| NCT05514847 | PHASE4 | ACTIVE_NOT_RECRUITING | Low Dose Aspirin for Preterm Preeclampsia Preventionmg/day Dose in High-risk Patients |
| NCT05586373 | PHASE4 | COMPLETED | Ibuprofen vs Dipyrone After C-section in Preeclampsia |
| NCT06069102 | PHASE4 | COMPLETED | Optimal Blood Pressure Treatment Thresholds Postpartum |
| NCT06107335 | PHASE4 | NOT_YET_RECRUITING | Effect of Albumin Versus Routine Care on Hemodynamic Response and Stability in Patients With Preeclampsia Guided by a Non-invasive Hemodynamic Monitoring System During Cesarean Delivery With Spinal Anesthesia |
| NCT06281665 | PHASE4 | RECRUITING | Treatment With Aspirin After Preeclampsia: TAP Trial |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bone fracture, osteoporosis, preeclampsia