UNKL
gene geneOn this page
Also known as ZC3HDC5LZC3H5LFLJ23360
Summary
UNKL (unk like zinc finger, HGNC:14184) is a protein-coding gene on chromosome 16p13.3, encoding Putative E3 ubiquitin-protein ligase UNKL (Q9H9P5). May participate in a protein complex showing an E3 ligase activity regulated by RAC1.
This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants.
Source: NCBI Gene 64718 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 200 total
- MANE Select transcript:
NM_001372107
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14184 |
| Approved symbol | UNKL |
| Name | unk like zinc finger |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZC3HDC5L, ZC3H5L, FLJ23360 |
| Ensembl gene | ENSG00000059145 |
| Ensembl biotype | protein_coding |
| OMIM | 617463 |
| Entrez | 64718 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 12 protein_coding, 4 retained_intron, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000248104, ENST00000301712, ENST00000382757, ENST00000389221, ENST00000397464, ENST00000402641, ENST00000403703, ENST00000502438, ENST00000503648, ENST00000508903, ENST00000509981, ENST00000511095, ENST00000513783, ENST00000515195, ENST00000561783, ENST00000562537, ENST00000566707, ENST00000674376, ENST00000876324, ENST00000876325, ENST00000876326, ENST00000876327
RefSeq mRNA: 7 — MANE Select: NM_001372107
NM_001037125, NM_001193388, NM_001193389, NM_001276414, NM_001367622, NM_001370526, NM_001372107
CCDS: CCDS32359, CCDS53980, CCDS61787, CCDS92080
Canonical transcript exons
ENST00000389221 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000945893 | 1390632 | 1390694 |
| ENSE00001164823 | 1392891 | 1392976 |
| ENSE00001493288 | 1414615 | 1414704 |
| ENSE00001505217 | 1385208 | 1385385 |
| ENSE00003469324 | 1371519 | 1371611 |
| ENSE00003510680 | 1403168 | 1403344 |
| ENSE00003518465 | 1401568 | 1401701 |
| ENSE00003518675 | 1413846 | 1414055 |
| ENSE00003554935 | 1397178 | 1397295 |
| ENSE00003565038 | 1367092 | 1367349 |
| ENSE00003609378 | 1370130 | 1370357 |
| ENSE00003637012 | 1399374 | 1399509 |
| ENSE00003656952 | 1394131 | 1394215 |
| ENSE00003713076 | 1367656 | 1367858 |
| ENSE00003901573 | 1363205 | 1366395 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 99.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4450 / max 164.3969, expressed in 1794 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155843 | 8.3437 | 1721 |
| 155841 | 3.6808 | 1308 |
| 155842 | 0.9010 | 611 |
| 155840 | 0.5195 | 223 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.64 | gold quality |
| oocyte | CL:0000023 | 99.42 | gold quality |
| sural nerve | UBERON:0015488 | 93.94 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.80 | gold quality |
| right uterine tube | UBERON:0001302 | 90.77 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.47 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 90.32 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 89.73 | gold quality |
| cerebellar cortex | UBERON:0002129 | 89.62 | gold quality |
| parietal pleura | UBERON:0002400 | 89.32 | gold quality |
| left ovary | UBERON:0002119 | 89.24 | gold quality |
| cerebellum | UBERON:0002037 | 89.20 | gold quality |
| visceral pleura | UBERON:0002401 | 88.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.67 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.54 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.53 | gold quality |
| amniotic fluid | UBERON:0000173 | 88.48 | gold quality |
| blood | UBERON:0000178 | 88.36 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.00 | gold quality |
| tibia | UBERON:0000979 | 87.96 | gold quality |
| cartilage tissue | UBERON:0002418 | 87.55 | gold quality |
| right ovary | UBERON:0002118 | 87.53 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.51 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.50 | gold quality |
| mammary duct | UBERON:0001765 | 87.49 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.46 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.43 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 87.38 | gold quality |
| mucosa of stomach | UBERON:0001199 | 87.26 | gold quality |
| pleura | UBERON:0000977 | 87.20 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-4850 | no | 277.11 |
| E-ANND-3 | no | 2.85 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting UNKL, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-7155-3P | 99.57 | 66.48 | 794 |
| HSA-MIR-1324 | 99.46 | 66.57 | 1302 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-6734-3P | 99.15 | 66.27 | 1627 |
| HSA-MIR-29A-5P | 99.08 | 68.59 | 1813 |
| HSA-MIR-3117-5P | 99.04 | 67.93 | 618 |
| HSA-MIR-6871-5P | 98.90 | 66.67 | 671 |
| HSA-MIR-11399 | 98.71 | 65.69 | 869 |
| HSA-MIR-6728-3P | 98.63 | 67.63 | 1534 |
| HSA-MIR-767-3P | 98.61 | 67.69 | 1192 |
| HSA-MIR-4518 | 98.12 | 66.82 | 1030 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-6514-3P | 97.52 | 66.50 | 808 |
| HSA-MIR-509-3-5P | 97.21 | 67.74 | 1517 |
| HSA-MIR-509-5P | 97.21 | 67.90 | 1512 |
| HSA-MIR-4418 | 97.04 | 67.16 | 1372 |
| HSA-MIR-9900 | 96.06 | 65.48 | 557 |
| HSA-MIR-764 | 94.16 | 64.85 | 656 |
| HSA-MIR-6784-5P | 84.56 | 60.91 | 126 |
Literature-anchored findings (GeneRIF, showing 1)
- Characterizes the related Drosophila gene and protein. (PMID:1339381)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | unkl | ENSDARG00000037838 |
| mus_musculus | Unkl | ENSMUSG00000015127 |
| rattus_norvegicus | Unkl | ENSRNOG00000054605 |
| drosophila_melanogaster | unk | FBGN0004395 |
| caenorhabditis_elegans | WBGENE00016407 |
Paralogs (1): UNK (ENSG00000132478)
Protein
Protein identifiers
Putative E3 ubiquitin-protein ligase UNKL — Q9H9P5 (reviewed: Q9H9P5)
Alternative names: RING finger protein unkempt-like, Zinc finger CCCH domain-containing protein 5-like
All UniProt accessions (7): Q9H9P5, A0A0A0MRZ1, A0A0A0MSC7, A0A0A0MSF0, D6RA68, E2QRG9, E9PDK2
UniProt curated annotations — full annotation on UniProt →
Function. May participate in a protein complex showing an E3 ligase activity regulated by RAC1. Ubiquitination is directed towards itself and possibly other substrates, such as SMARCD2/BAF60b. Intrinsic E3 ligase activity has not been proven.
Subunit / interactions. Isoform 4 (C-terminal) interacts with the GTP-bound form of RAC1. Isoform 4 (C-terminal) interacts with SMARCD2/BAF60b.
Subcellular location. Cytoplasm. Nucleus.
Post-translational modifications. Isoform 4 is ubiquitinated in the C-terminal. Ubiquitination is enhanced by activated RAC1. The presence of the RING finger domain is not essential for ubiquitination to occur.
Domain organisation. Although this protein contains a RING domain, intrinsic E3 ligase activity has not been proven.
Pathway. Protein modification; protein ubiquitination.
Miscellaneous. Splice site between exons 6 and 7 is non-canonical.
Similarity. Belongs to the unkempt family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H9P5-4 | 4 | yes |
| Q9H9P5-1 | 1 | |
| Q9H9P5-2 | 2 | |
| Q9H9P5-3 | 3 | |
| Q9H9P5-5 | 5 | |
| Q9H9P5-6 | 6 |
RefSeq proteins (7): NP_001032202, NP_001180317, NP_001180318, NP_001263343, NP_001354551, NP_001357455, NP_001359036* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
| IPR040594 | UNK_Znf_1 | Domain |
| IPR045234 | Unkempt-like | Family |
| IPR057295 | UNK_Znf_4 | Domain |
| IPR057296 | UNK_Znf_5 | Domain |
Pfam: PF00642, PF13920, PF18384, PF23035, PF23261, PF25427
UniProt features (32 total): splice variant 12, zinc finger region 5, region of interest 5, compositionally biased region 4, mutagenesis site 2, sequence conflict 2, chain 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9P5-F1 | 67.86 | 0.33 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 639 | no effects on the interaction with rac1 or smarcd2; when associated with a-670. |
| 670 | no effects on the interaction with rac1 or smarcd2; when associated with a-639. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 165 (showing top):
MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, NRF2_Q4, DOUGLAS_BMI1_TARGETS_DN, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, MULLIGHAN_NPM1_MUTATED_SIGNATURE_1_UP, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_YELLOW_UP, HATADA_METHYLATED_IN_LUNG_CANCER_UP, MODULE_292
GO Biological Process (1): protein ubiquitination (GO:0016567)
GO Molecular Function (4): zinc ion binding (GO:0008270), transferase activity (GO:0016740), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 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 |
| transition metal ion binding | 1 |
| catalytic activity | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
584 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| UNKL | FAM171A1 | Q5VUB5 | 518 |
| UNKL | KHNYN | O15037 | 463 |
| UNKL | CAMKK1 | Q8N5S9 | 452 |
| UNKL | ADGRA3 | Q8IWK6 | 448 |
| UNKL | DUSP7 | Q16829 | 437 |
| UNKL | CERK | Q8TCT0 | 429 |
| UNKL | SMTN | P53814 | 425 |
| UNKL | CBFA2T2 | O43439 | 415 |
| UNKL | TNFRSF10D | Q9UBN6 | 410 |
| UNKL | SH3TC1 | Q8TE82 | 405 |
| UNKL | CLVS1 | Q8IUQ0 | 385 |
| UNKL | KDM6B | O15054 | 380 |
| UNKL | TSEN15 | Q8WW01 | 380 |
| UNKL | C1orf162 | Q8NEQ5 | 370 |
| UNKL | CYRIB | Q9NUQ9 | 360 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UNKL | RAC1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| UNKL | SMARCD2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SMARCD2 | UNKL | psi-mi:“MI:0915”(physical association) | 0.510 |
| UBI4 | UNKL | psi-mi:“MI:0915”(physical association) | 0.400 |
| KDM1A | UNKL | psi-mi:“MI:0915”(physical association) | 0.370 |
| TFAP2A | UNKL | psi-mi:“MI:0915”(physical association) | 0.370 |
| UNKL | GGPS1 | psi-mi:“MI:0914”(association) | 0.350 |
| UNKL | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (81): PREPL (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), GGPS1 (Affinity Capture-MS), TRPC4AP (Affinity Capture-MS), AHCYL2 (Affinity Capture-MS), FBLN1 (Two-hybrid), NID2 (Two-hybrid), KCTD9 (Two-hybrid), HOXA1 (Two-hybrid), FRS3 (Two-hybrid), CREB5 (Two-hybrid), BAG3 (Two-hybrid), BAG4 (Two-hybrid), WDYHV1 (Two-hybrid), TGM7 (Two-hybrid)
ESM2 similar proteins: A1YER5, A1YFY1, A2T6X5, A5PKK9, C0HBT3, D2H0Y8, E1B7Q7, E1B7X3, F1RCR6, G3X9J0, J7FCF0, O35730, O60292, O94972, Q06587, Q13064, Q14669, Q2PFU6, Q3T139, Q3TEL6, Q3UHH1, Q5DTT2, Q5REL3, Q5TCY1, Q5TJF3, Q5XIK5, Q60764, Q66JE4, Q6GQD5, Q6I6G8, Q6IEK5, Q6MGB6, Q6PCX9, Q76LL6, Q76N89, Q7L2J0, Q7ZUK0, Q8C120, Q8JZP9, Q8K3A9
Diamond homologs: O65036, O82199, O82307, P93755, Q10EL1, Q2QPW2, Q5FWH2, Q65X92, Q688R3, Q6L4N4, Q7XSB2, Q84SL2, Q86B79, Q93ZS9, Q94JI5, Q9FKW2, Q9FU27, Q9H9P5, Q9LUZ4, Q9LXV4, Q9M0G2, Q9XEE6, Q9ZWA1, Q6EE22, Q8BL48, Q9C0B0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | UNKL | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
200 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 167 |
| Likely benign | 21 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3633 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:1367090:A:AC | donor_gain | 1.0000 |
| 16:1367091:C:CC | donor_gain | 1.0000 |
| 16:1367091:CG:C | donor_gain | 1.0000 |
| 16:1367653:CAC:C | donor_loss | 1.0000 |
| 16:1367655:CCTG:C | donor_gain | 1.0000 |
| 16:1367754:T:C | acceptor_gain | 1.0000 |
| 16:1385386:C:CC | acceptor_gain | 1.0000 |
| 16:1394129:A:AC | donor_gain | 1.0000 |
| 16:1394130:C:CC | donor_gain | 1.0000 |
| 16:1394130:CT:C | donor_gain | 1.0000 |
| 16:1397173:CGTA:C | donor_loss | 1.0000 |
| 16:1397174:GTAC:G | donor_loss | 1.0000 |
| 16:1397175:TACCT:T | donor_loss | 1.0000 |
| 16:1401563:GTTA:G | donor_loss | 1.0000 |
| 16:1401564:TTACC:T | donor_loss | 1.0000 |
| 16:1401565:TACCT:T | donor_loss | 1.0000 |
| 16:1401566:ACCTT:A | donor_loss | 1.0000 |
| 16:1401569:TTGCC:T | donor_gain | 1.0000 |
| 16:1401700:CC:C | acceptor_gain | 1.0000 |
| 16:1401700:CCCTG:C | acceptor_loss | 1.0000 |
| 16:1401701:CC:C | acceptor_gain | 1.0000 |
| 16:1401702:C:CC | acceptor_gain | 1.0000 |
| 16:1401703:T:A | acceptor_loss | 1.0000 |
| 16:1403164:TCA:T | donor_loss | 1.0000 |
| 16:1403165:CA:C | donor_loss | 1.0000 |
| 16:1403166:A:AC | donor_gain | 1.0000 |
| 16:1403166:A:AT | donor_loss | 1.0000 |
| 16:1403167:C:CC | donor_gain | 1.0000 |
| 16:1403167:CCTGA:C | donor_gain | 1.0000 |
| 16:1403340:GACAC:G | acceptor_gain | 1.0000 |
AlphaMissense
4423 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000143288 (16:1395910 T>A), RS1000238481 (16:1364473 G>A), RS1000274208 (16:1388590 C>G), RS1000319282 (16:1408339 G>A,T), RS1000319687 (16:1399921 G>A,T), RS1000366525 (16:1375517 G>A), RS1000403513 (16:1379654 G>A), RS1000419012 (16:1375411 C>A), RS1000426372 (16:1404005 G>A,C), RS1000501005 (16:1384468 C>T), RS1000501497 (16:1412486 C>G,T), RS1000515215 (16:1396087 G>A), RS1000546468 (16:1404707 C>A), RS1000574660 (16:1384322 G>C,T), RS1000590221 (16:1404133 G>A)
Disease associations
OMIM: gene MIM:617463 | disease phenotypes: MIM:252605
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (2): GNPTG-mucolipidosis (MONDO:0009652), Tourette syndrome (MONDO:0007661)
Orphanet (2): Mucolipidosis type III gamma (Orphanet:423470), Mucolipidosis type III (Orphanet:577)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_107 | Refractive error | 6.000000e-18 |
| GCST010146_35 | Serum immune biomarker levels | 7.000000e-13 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004869 | YKL40 measurement |
| EFO:0004872 | inflammatory biomarker measurement |
MeSH disease descriptors (2)
| 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 |
| C565367 | Mucolipidosis III Gamma (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 6 |
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases methylation | 6 |
| Benzo(a)pyrene | affects methylation, increases expression, increases methylation | 5 |
| methylmercuric chloride | decreases expression, increases expression | 3 |
| Arsenic | increases expression, affects methylation, decreases methylation, affects cotreatment, increases abundance | 3 |
| cupric chloride | increases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| Acetaminophen | increases expression, decreases expression | 2 |
| Air Pollutants | affects expression, increases abundance, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| lead acetate | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sulforaphane | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| 9,10-dihydro-9,10-dihydroxybenzo(a)pyrene | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, 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): GNPTG-mucolipidosis, Tourette syndrome