LYPD6
gene geneOn this page
Also known as MGC52057
Summary
LYPD6 (LY6/PLAUR domain containing 6, HGNC:28751) is a protein-coding gene on chromosome 2q23.2, encoding Ly6/PLAUR domain-containing protein 6 (Q86Y78). Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain.
Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).
Source: NCBI Gene 130574 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 26 total
- MANE Select transcript:
NM_194317
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28751 |
| Approved symbol | LYPD6 |
| Name | LY6/PLAUR domain containing 6 |
| Location | 2q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC52057 |
| Ensembl gene | ENSG00000187123 |
| Ensembl biotype | protein_coding |
| OMIM | 613359 |
| Entrez | 130574 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 nonsense_mediated_decay
ENST00000334166, ENST00000392854, ENST00000409381, ENST00000414420, ENST00000418762, ENST00000651933, ENST00000880626, ENST00000946762
RefSeq mRNA: 2 — MANE Select: NM_194317
NM_001195685, NM_194317
CCDS: CCDS2188
Canonical transcript exons
ENST00000334166 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001337511 | 149449049 | 149449147 |
| ENSE00001337517 | 149437638 | 149437826 |
| ENSE00001513370 | 149330587 | 149330722 |
| ENSE00001916516 | 149470683 | 149474138 |
| ENSE00003468252 | 149468645 | 149468775 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 96.20.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5417 / max 59.2212, expressed in 1008 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 23019 | 4.5417 | 1008 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sperm | CL:0000019 | 96.20 | gold quality |
| secondary oocyte | CL:0000655 | 91.05 | gold quality |
| oocyte | CL:0000023 | 87.86 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.79 | gold quality |
| gall bladder | UBERON:0002110 | 82.13 | gold quality |
| ganglionic eminence | UBERON:0004023 | 81.76 | gold quality |
| buccal mucosa cell | CL:0002336 | 79.03 | gold quality |
| stromal cell of endometrium | CL:0002255 | 77.37 | gold quality |
| pancreatic ductal cell | CL:0002079 | 77.27 | silver quality |
| ventricular zone | UBERON:0003053 | 75.12 | gold quality |
| left testis | UBERON:0004533 | 74.90 | gold quality |
| prefrontal cortex | UBERON:0000451 | 74.81 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 74.81 | gold quality |
| right testis | UBERON:0004534 | 74.48 | gold quality |
| testis | UBERON:0000473 | 74.14 | gold quality |
| hypothalamus | UBERON:0001898 | 73.27 | gold quality |
| placenta | UBERON:0001987 | 73.23 | gold quality |
| oviduct epithelium | UBERON:0004804 | 73.01 | gold quality |
| tibialis anterior | UBERON:0001385 | 72.65 | silver quality |
| amygdala | UBERON:0001876 | 72.00 | gold quality |
| caudate nucleus | UBERON:0001873 | 71.79 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 71.78 | gold quality |
| neocortex | UBERON:0001950 | 71.55 | gold quality |
| right frontal lobe | UBERON:0002810 | 71.39 | gold quality |
| frontal cortex | UBERON:0001870 | 70.91 | gold quality |
| cortical plate | UBERON:0005343 | 70.55 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 70.33 | gold quality |
| cerebral cortex | UBERON:0000956 | 69.68 | gold quality |
| ileal mucosa | UBERON:0000331 | 69.57 | silver quality |
| tibial nerve | UBERON:0001323 | 69.40 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7008 | yes | 53.48 |
| E-ANND-3 | no | 3.67 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
151 targeting LYPD6, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
Literature-anchored findings (GeneRIF, showing 5)
- The cloning and characterization of a novel human LU domain containing gene, LYPD6, isolated from human testis cDNA library, is reported. (PMID:19653121)
- Lypd6 appears to control Lrp6 activation specifically in membrane rafts, which is essential for downstream signaling. (PMID:23987510)
- the Lynx protein Lypd6 binds to nAChRs in human brain extracts, and that recombinant Lypd6 decreases nicotine-induced ERK phosphorylation (PMID:27344019)
- Results indicate the key role in the interaction of LY6/PLAUR domain containing 6 (LYPD6) with LDL receptor related protein 6 (LRP6). (PMID:30069874)
- Structural Diversity and Dynamics of Human Three-Finger Proteins Acting on Nicotinic Acetylcholine Receptors. (PMID:33019770)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lypd6 | ENSDARG00000004307 |
| mus_musculus | Lypd6 | ENSMUSG00000050447 |
| rattus_norvegicus | Lypd6 | ENSRNOG00000085812 |
Paralogs (1): LYPD6B (ENSG00000150556)
Protein
Protein identifiers
Ly6/PLAUR domain-containing protein 6 — Q86Y78 (reviewed: Q86Y78)
All UniProt accessions (2): C9IYE7, Q86Y78
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain. Inhibits nicotine-induced Ca(2+) influx through nAChRs. In vitro, specifically inhibits alpha-3:beta-4 and alpha-7 nAChR currents in an allosteric manner. Acts as a positive regulator of Wnt/beta-catenin signaling.
Subunit / interactions. Interacts with nicotinic acetylcholine receptors (nAChRs) including CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2 and CHRNB4. Interacts (via NxI motif) with LRP6.
Subcellular location. Secreted. Cytoplasm. Cell membrane. Synapse. Synaptosome. Membrane raft. Cell projection. Dendrite. Perikaryon.
Tissue specificity. Detected in the temporal cortex (at protein level). Ubiquitous. Highly expressed in brain and heart.
Domain organisation. The UPAR/Ly6 domain is sufficient for inhibiting alpha-3:beta-4 and alpha-7-dependent nAChR currents.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86Y78-1 | 1 | yes |
| Q86Y78-2 | 2 |
RefSeq proteins (2): NP_001182614, NP_919298* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR039457 | LYPD6-like | Family |
| IPR045860 | Snake_toxin-like_sf | Homologous_superfamily |
Pfam: PF16975
UniProt features (33 total): strand 9, disulfide bond 6, mutagenesis site 4, splice variant 2, helix 2, glycosylation site 2, signal peptide 1, chain 1, propeptide 1, sequence conflict 1, domain 1, turn 1, short sequence motif 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6GBI | X-RAY DIFFRACTION | 1.25 |
| 6IB6 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86Y78-F1 | 86.14 | 0.57 |
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 (1): 147
Disulfide bonds (6): 70–96, 102–121, 107–118, 122–127, 49–77, 52–61
Glycosylation sites (2): 134, 147
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 83–92 | able to bind to lrp6. |
| 88 | abolishes binding to lrp6. |
| 90 | severely reduces binding to lrp6. |
| 111 | increased binding to lrp6. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CELL_CELL_SIGNALING, GOBP_FOREBRAIN_GENERATION_OF_NEURONS, CTAGGAA_MIR384, IRF7_01, GOBP_CEREBRAL_CORTEX_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_SYNAPTIC_PLASTICITY, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_HIPPOCAMPUS_DEVELOPMENT, GOBP_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, BILD_E2F3_ONCOGENIC_SIGNATURE
GO Biological Process (7): visual perception (GO:0007601), pyramidal neuron differentiation (GO:0021859), regulation of synaptic plasticity (GO:0048167), positive regulation of canonical Wnt signaling pathway (GO:0090263), hippocampal interneuron differentiation (GO:0097410), nervous system development (GO:0007399), neuron differentiation (GO:0030182)
GO Molecular Function (3): acetylcholine receptor inhibitor activity (GO:0030550), protein binding (GO:0005515), acetylcholine receptor regulator activity (GO:0030548)
GO Cellular Component (11): extracellular region (GO:0005576), cytoplasm (GO:0005737), plasma membrane (GO:0005886), dendrite (GO:0030425), perikaryon (GO:0043204), membrane raft (GO:0045121), synapse (GO:0045202), side of membrane (GO:0098552), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 6 |
| acetylcholine receptor activity | 2 |
| membrane | 2 |
| sensory perception of light stimulus | 1 |
| central nervous system neuron differentiation | 1 |
| modulation of chemical synaptic transmission | 1 |
| regulation of biological quality | 1 |
| positive regulation of Wnt signaling pathway | 1 |
| canonical Wnt signaling pathway | 1 |
| regulation of canonical Wnt signaling pathway | 1 |
| hippocampus development | 1 |
| cerebral cortex neuron differentiation | 1 |
| system development | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| signaling receptor inhibitor activity | 1 |
| acetylcholine receptor regulator activity | 1 |
| binding | 1 |
| neurotransmitter receptor regulator activity | 1 |
| intracellular anatomical structure | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| neuronal cell body | 1 |
| membrane microdomain | 1 |
| cell junction | 1 |
| leaflet of membrane bilayer | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
1353 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LYPD6 | SLURP1 | P55000 | 953 |
| LYPD6 | LRP6 | O75581 | 815 |
| LYPD6 | LYNX1 | P0DP58 | 778 |
| LYPD6 | FZD8 | Q9H461 | 720 |
| LYPD6 | LY6H | O94772 | 712 |
| LYPD6 | INSYN2B | A6NMK8 | 602 |
| LYPD6 | LY6K | Q17RY6 | 595 |
| LYPD6 | PATE4 | P0C8F1 | 477 |
| LYPD6 | GPIHBP1 | Q8IV16 | 476 |
| LYPD6 | LRRC34 | Q8IZ02 | 475 |
| LYPD6 | ACRV1 | P26436 | 474 |
| LYPD6 | TMEM174 | Q8WUU8 | 457 |
| LYPD6 | CCDC175 | P0C221 | 450 |
| LYPD6 | PATE2 | Q6UY27 | 447 |
| LYPD6 | ZNF513 | Q8N8E2 | 433 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LYPD6 | SS18L2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LYPD6 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.530 |
| LYPD6 | CHRNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| LYPD6 | Chrna4 | psi-mi:“MI:0914”(association) | 0.350 |
| SS18L2 | LYPD6 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (71): ATP1A3 (Affinity Capture-MS), LPGAT1 (Affinity Capture-MS), CELSR1 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), PLXNB2 (Affinity Capture-MS), DNM2 (Affinity Capture-MS), DNM1 (Affinity Capture-MS), DNM3 (Affinity Capture-MS), CKAP4 (Affinity Capture-MS), TMX1 (Affinity Capture-MS), SOAT1 (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), TMEM68 (Affinity Capture-MS), PTPN1 (Affinity Capture-MS)
ESM2 similar proteins: A6NCL2, D3ZTT2, O19131, O46655, O70280, P01177, P01178, P01179, P01180, P01183, P01185, P01186, P03973, P13389, P19438, P22298, P22934, P25118, P35454, P35455, P50555, P58658, P58659, Q02509, Q14AE4, Q32LD3, Q3URS3, Q5T700, Q68US5, Q6UWE3, Q6UWL2, Q6V9X0, Q6WN34, Q76LW6, Q86Y78, Q8BPP5, Q8BVP6, Q8N6Q3, Q8VEA6, Q8WXA2
Diamond homologs: D3ZTT2, Q66IA6, Q86Y78, Q8BPP5, Q8NI32, Q9D7F2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1894 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:149437827:G:GG | donor_gain | 1.0000 |
| 2:149449047:A:AG | acceptor_gain | 1.0000 |
| 2:149449048:G:GG | acceptor_gain | 1.0000 |
| 2:149449048:GCC:G | acceptor_gain | 1.0000 |
| 2:149449145:GAGG:G | donor_loss | 1.0000 |
| 2:149449146:AG:A | donor_loss | 1.0000 |
| 2:149449147:GGTAA:G | donor_loss | 1.0000 |
| 2:149449148:G:C | donor_loss | 1.0000 |
| 2:149449149:T:A | donor_loss | 1.0000 |
| 2:149335308:ATCCC:A | donor_gain | 0.9900 |
| 2:149411396:G:GT | donor_gain | 0.9900 |
| 2:149411397:A:T | donor_gain | 0.9900 |
| 2:149437632:TTTCA:T | acceptor_loss | 0.9900 |
| 2:149437633:TTCA:T | acceptor_loss | 0.9900 |
| 2:149437634:TCA:T | acceptor_loss | 0.9900 |
| 2:149437636:A:C | acceptor_loss | 0.9900 |
| 2:149437823:TCAAG:T | donor_loss | 0.9900 |
| 2:149437824:CAAG:C | donor_loss | 0.9900 |
| 2:149437825:AAG:A | donor_loss | 0.9900 |
| 2:149437826:AG:A | donor_loss | 0.9900 |
| 2:149437827:G:A | donor_loss | 0.9900 |
| 2:149437828:TA:T | donor_loss | 0.9900 |
| 2:149437829:A:C | donor_loss | 0.9900 |
| 2:149449046:TA:T | acceptor_loss | 0.9900 |
| 2:149449048:G:GT | acceptor_loss | 0.9900 |
| 2:149449048:GC:G | acceptor_gain | 0.9900 |
| 2:149449048:GCCAC:G | acceptor_gain | 0.9900 |
| 2:149468796:GACC:G | donor_gain | 0.9900 |
| 2:149468797:ACCA:A | donor_gain | 0.9900 |
| 2:149330200:A:T | donor_gain | 0.9800 |
AlphaMissense
1097 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:149449079:T:G | F50C | 1.000 |
| 2:149468709:A:C | K94N | 1.000 |
| 2:149468709:A:T | K94N | 1.000 |
| 2:149449074:A:C | K48N | 0.999 |
| 2:149449074:A:T | K48N | 0.999 |
| 2:149449075:T:A | C49S | 0.999 |
| 2:149449076:G:C | C49S | 0.999 |
| 2:149449078:T:C | F50L | 0.999 |
| 2:149449079:T:C | F50S | 0.999 |
| 2:149449080:C:A | F50L | 0.999 |
| 2:149449080:C:G | F50L | 0.999 |
| 2:149449085:G:A | C52Y | 0.999 |
| 2:149449104:T:A | N58K | 0.999 |
| 2:149449104:T:G | N58K | 0.999 |
| 2:149449111:T:A | C61S | 0.999 |
| 2:149449111:T:C | C61R | 0.999 |
| 2:149449112:G:C | C61S | 0.999 |
| 2:149449113:C:G | C61W | 0.999 |
| 2:149449116:C:A | N62K | 0.999 |
| 2:149449116:C:G | N62K | 0.999 |
| 2:149449122:G:C | W64C | 0.999 |
| 2:149449122:G:T | W64C | 0.999 |
| 2:149468656:T:A | C77S | 0.999 |
| 2:149468657:G:C | C77S | 0.999 |
| 2:149468658:C:G | C77W | 0.999 |
| 2:149468708:A:T | K94I | 0.999 |
| 2:149468713:T:A | C96S | 0.999 |
| 2:149468714:G:C | C96S | 0.999 |
| 2:149470718:C:A | N128K | 0.999 |
| 2:149470718:C:G | N128K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000001449 (2:149435590 C>A,G,T), RS1000007931 (2:149393222 T>G), RS1000017107 (2:149453677 T>G), RS1000024322 (2:149390677 G>C), RS1000025421 (2:149372385 A>C,G), RS1000079869 (2:149423646 T>C), RS1000081644 (2:149364771 C>A,T), RS1000083497 (2:149408147 G>T), RS1000096298 (2:149335881 A>G), RS1000106828 (2:149365032 G>A), RS1000120594 (2:149377154 C>A), RS1000138236 (2:149366188 T>C), RS1000168 (2:149484557 G>A,C), RS1000168414 (2:149472315 C>T), RS1000179569 (2:149356421 C>T)
Disease associations
OMIM: gene MIM:613359 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (1): Tourette syndrome (MONDO:0007661)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003518_13 | Daytime sleep phenotypes | 4.000000e-06 |
| GCST006631_6 | Nicotine dependence and major depression (severity of comorbidity) | 6.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007828 | daytime rest measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0009262 | nicotine dependence symptom count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005879 | Tourette Syndrome | C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 5 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| potassium chromate(VI) | increases expression, affects cotreatment, decreases expression | 2 |
| Resveratrol | decreases expression, affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | decreases methylation, increases expression, increases methylation, affects methylation | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | increases expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sulforaphane | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| nickel sulfate | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Methapyrilene | decreases methylation | 1 |
| Pesticides | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
Clinical trials (associated diseases)
183 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00226824 | PHASE4 | TERMINATED | Safety Study of Galantamine in Tic Disorders |
| NCT00241176 | PHASE4 | COMPLETED | Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder |
| NCT00370838 | PHASE4 | COMPLETED | Comparison of Keppra and Clonidine in the Treatment of Tics |
| NCT01018056 | PHASE4 | COMPLETED | Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission |
| NCT01547000 | PHASE4 | COMPLETED | Guanfacine in Children With Tic Disorders |
| NCT03239210 | PHASE4 | COMPLETED | Effects of Ondansetron in Obsessive-compulsive and Tic Disorders |
| NCT00004376 | PHASE3 | COMPLETED | Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder |
| NCT00206323 | PHASE3 | COMPLETED | A Randomized, Placebo-controlled, Tourette Syndrome Study. |
| NCT00206336 | PHASE3 | COMPLETED | An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome. |
| NCT00478842 | PHASE3 | COMPLETED | Pallidal Stimulation and Gilles de la Tourette Syndrome |
| NCT00681863 | PHASE3 | TERMINATED | Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome |
| NCT01501695 | PHASE3 | COMPLETED | Phase III Study of 5LGr to Treat Tic Disorder |
| NCT03087201 | PHASE3 | COMPLETED | CANNAbinoids in the Treatment of TICS (CANNA-TICS) |
| NCT03487783 | PHASE3 | COMPLETED | Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome |
| NCT03567291 | PHASE3 | TERMINATED | Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents |
| NCT03571256 | PHASE3 | COMPLETED | A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS) |
| NCT06021522 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder |
| NCT00004393 | PHASE2 | COMPLETED | Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome |
| NCT00004652 | PHASE2 | COMPLETED | Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome |
| NCT00231985 | PHASE2 | COMPLETED | Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder |
| NCT00311909 | PHASE2 | COMPLETED | Thalamic Deep Brain Stimulation for Tourette Syndrome |
| NCT00529308 | PHASE2 | COMPLETED | Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome |
| NCT00558467 | PHASE2 | COMPLETED | Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria |
| NCT01043549 | PHASE2 | TERMINATED | Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome |
| NCT01133353 | PHASE2 | WITHDRAWN | A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome |
| NCT01475383 | PHASE2 | WITHDRAWN | Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome |
| NCT01647269 | PHASE2 | COMPLETED | A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome |
| NCT01904773 | PHASE2 | COMPLETED | Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder |
| NCT02102698 | PHASE2 | COMPLETED | Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years |
| NCT02217007 | PHASE2 | WITHDRAWN | A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome |
| NCT02247206 | PHASE2 | COMPLETED | VoIP Delivered Behavior Therapy for Tourette Syndrome |
| NCT02581865 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome |
| NCT02619084 | PHASE2 | COMPLETED | Subthalamic Stimulation in Tourette’s Syndrome |
| NCT02679079 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome |
| NCT02879578 | PHASE2 | COMPLETED | Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome |
| NCT03066193 | PHASE2 | COMPLETED | Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome |
| NCT03247244 | PHASE2 | TERMINATED | Safety and Efficacy of Cannabis in Tourette Syndrome |
| NCT03325010 | PHASE2 | COMPLETED | Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
| NCT03444038 | PHASE2 | COMPLETED | Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
Related Atlas pages
- Associated diseases: Tourette syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Tourette syndrome