ZNF385A

Summary

ZNF385A (zinc finger protein 385A, HGNC:17521) is a protein-coding gene on chromosome 12q13.13, encoding Zinc finger protein 385A (Q96PM9). RNA-binding protein that affects the localization and the translation of a subset of mRNA.

Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).

Source: NCBI Gene 25946 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_015481

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17521
Approved symbol	ZNF385A
Name	zinc finger protein 385A
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586G1122, Hzf, ZFP385
Ensembl gene	ENSG00000161642
Ensembl biotype	protein_coding
OMIM	609124
Entrez	25946

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 24 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000338010, ENST00000352268, ENST00000394313, ENST00000546919, ENST00000546970, ENST00000547210, ENST00000549937, ENST00000549962, ENST00000550120, ENST00000550774, ENST00000550779, ENST00000551109, ENST00000551771, ENST00000551864, ENST00000552382, ENST00000872488, ENST00000872489, ENST00000872490, ENST00000872491, ENST00000872492, ENST00000872493, ENST00000872494, ENST00000872495, ENST00000872496, ENST00000927214, ENST00000927215, ENST00000949807

RefSeq mRNA: 6 — MANE Select: NM_015481 NM_001130967, NM_001130968, NM_001290001, NM_001290002, NM_001290004, NM_015481

CCDS: CCDS44910, CCDS44911, CCDS76563, CCDS8879

Canonical transcript exons

ENST00000394313 — 7 exons

Exon	Start	End
ENSE00001518047	54369136	54370486
ENSE00002349455	54384428	54384733
ENSE00003535470	54371473	54371715
ENSE00003598965	54370927	54371096
ENSE00003639027	54375844	54375954
ENSE00003651635	54373973	54374135
ENSE00003672587	54370626	54370721

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 97.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.9321 / max 557.7723, expressed in 1702 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131336	13.9197	449
131343	8.5541	813
131333	5.5825	1353
131342	4.2528	652
131339	1.8711	225
131334	1.2541	197
131337	0.2785	135
131335	0.1490	100
131338	0.0431	25
206728	0.0270	18

Top tissues by expression

250 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	97.96	gold quality
skin of abdomen	UBERON:0001416	97.74	gold quality
monocyte	CL:0000576	97.23	gold quality
leukocyte	CL:0000738	97.19	gold quality
granulocyte	CL:0000094	97.17	gold quality
lower esophagus mucosa	UBERON:0035834	97.02	gold quality
zone of skin	UBERON:0000014	95.66	gold quality
upper arm skin	UBERON:0004263	95.66	gold quality
right frontal lobe	UBERON:0002810	95.46	gold quality
pancreatic ductal cell	CL:0002079	95.26	silver quality
anterior cingulate cortex	UBERON:0009835	95.24	gold quality
hypothalamus	UBERON:0001898	95.11	gold quality
putamen	UBERON:0001874	94.73	gold quality
esophagus mucosa	UBERON:0002469	94.73	gold quality
amygdala	UBERON:0001876	94.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.18	gold quality
caudate nucleus	UBERON:0001873	94.11	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.94	gold quality
mucosa of stomach	UBERON:0001199	93.49	gold quality
prefrontal cortex	UBERON:0000451	93.32	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.17	gold quality
nucleus accumbens	UBERON:0001882	93.04	gold quality
substantia nigra	UBERON:0002038	92.89	gold quality
spinal cord	UBERON:0002240	92.79	gold quality
left lobe of thyroid gland	UBERON:0001120	92.72	gold quality
right lobe of thyroid gland	UBERON:0001119	92.71	gold quality
midbrain	UBERON:0001891	91.78	gold quality
thyroid gland	UBERON:0002046	91.48	gold quality
frontal cortex	UBERON:0001870	91.41	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.39	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-13	yes	21.87
E-CURD-122	yes	21.36
E-MTAB-8410	yes	12.72
E-MTAB-9467	yes	11.83
E-ANND-3	yes	9.70
E-MTAB-6678	yes	8.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

168 targeting ZNF385A, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6870-5P	99.99	68.55	2115
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-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-302E	99.96	70.74	2669
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-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4271	99.88	68.32	2244

Literature-anchored findings (GeneRIF, showing 3)

• Results suggest that RZF is a shuttling regulatory protein expressed in photoreceptors of the human retina that may be involved in mRNA or protein regulation of photoreceptor-specific genes and therefore have role in retinal disease mechanisms. (PMID:15527981)
• Brain gene expression of PADI2, ZNF385A, PSD2, and A2ML1 and DNA methylation dysregulations are implicated in the alteration of brain tissue properties associated with late-life cognitive decline above and beyond the influence of common neuropathologic conditions. (PMID:29084334)
• ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma. (PMID:36834567)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf385a	ENSDARG00000009899
mus_musculus	Zfp385a	ENSMUSG00000000552
rattus_norvegicus	Zfp385a	ENSRNOG00000036833
drosophila_melanogaster	CG1231	FBGN0035134
drosophila_melanogaster	dbf	FBGN0287630

Paralogs (9): ZNF346 (ENSG00000113761), ZNF385B (ENSG00000144331), ZMAT2 (ENSG00000146007), ZNF385D (ENSG00000151789), ZMAT4 (ENSG00000165061), ZMAT1 (ENSG00000166432), KRCC1 (ENSG00000172086), ZMAT3 (ENSG00000172667), ZNF385C (ENSG00000187595)

Protein

Protein identifiers

Zinc finger protein 385A — Q96PM9 (reviewed: Q96PM9)

Alternative names: Hematopoietic zinc finger protein, Retinal zinc finger protein

All UniProt accessions (8): Q96PM9, F8VQ24, F8VRY0, F8VSJ1, F8VWV6, F8VY43, H0YI55, H0YIX3

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3’-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3’-UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti-proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p53/TP53 activity through direct protein-protein interaction. Interacts with p53/TP53 and promotes cell-cycle arrest over apoptosis enhancing preferentially the DNA binding and transactivation of p53/TP53 on cell-cycle arrest target genes over proapoptotic target genes. May also regulate the ubiquitination and stability of CDKN1A promoting DNA damage-induced cell cycle arrest. Also plays a role in megakaryocytes differentiation.

Subunit / interactions. Interacts with ELAVL1; the interaction is indirect, mRNA-dependent and may regulate p53/TP53 expression. Interacts with p53/TP53; the interaction is direct and enhances p53/TP53 transactivation functions on cell-cycle arrest target genes, resulting in growth arrest.

Subcellular location. Cytoplasm. Nucleus. Nucleolus. Cell projection. Dendrite.

Tissue specificity. Expressed predominantly in the retina.

Post-translational modifications. Ubiquitinated upon prolonged exposure to genotoxic stress, which leads to proteasomal degradation of ZNF385A and releases p53/TP53 from cell-cycle arrest target gene promoters.

Induction. Up-regulated by p53/TP53 in response to DNA damage and oxidative stress.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96PM9-4	4	yes
Q96PM9-1	1
Q96PM9-2	2
Q96PM9-3	3

RefSeq proteins (6): NP_001124439, NP_001124440, NP_001276930, NP_001276931, NP_001276933, NP_056296* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003604	Matrin/U1-like-C_Znf_C2H2	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051845	Znf385	Family

Pfam: PF12874

UniProt features (12 total): zinc finger region 3, region of interest 3, splice variant 2, modified residue 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PM9-F1	62.73	0.15

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 (2): 185, 248

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6804114	TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
R-HSA-6804116	TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
R-HSA-6804759	Regulation of TP53 Activity through Association with Co-factors
R-HSA-69895	Transcriptional activation of cell cycle inhibitor p21

MSigDB gene sets: 276 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_CYTOPLASMIC_TRANSLATION, GGGACCA_MIR133A_MIR133B, AAGCAAT_MIR137, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_DNA_DAMAGE_RESPONSE_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_NEGATIVE_REGULATION_OF_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_BY_P53_CLASS_MEDIATOR, GOBP_MYELOID_CELL_DEVELOPMENT, PEREZ_TP63_TARGETS, LFA1_Q6, GCANCTGNY_MYOD_Q6, GOBP_POSITIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, AAGCCAT_MIR135A_MIR135B, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN

GO Biological Process (15): apoptotic process (GO:0006915), DNA damage response (GO:0006974), hemostasis (GO:0007599), learning or memory (GO:0007611), locomotory behavior (GO:0007626), mRNA localization resulting in post-transcriptional regulation of gene expression (GO:0010609), platelet formation (GO:0030220), megakaryocyte development (GO:0035855), positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517), positive regulation of fat cell differentiation (GO:0045600), platelet alpha granule organization (GO:0070889), negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166), regulation of cytoplasmic translation (GO:2000765), regulation of translation (GO:0006417), intracellular mRNA localization (GO:0008298)

GO Molecular Function (7): p53 binding (GO:0002039), DNA binding (GO:0003677), RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), zinc ion binding (GO:0008270), nucleic acid binding (GO:0003676), metal ion binding (GO:0046872)

GO Cellular Component (9): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), dendrite (GO:0030425), neuronal cell body (GO:0043025), cytoplasm (GO:0005737), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
TP53 Regulates Transcription of Cell Cycle Genes	2
Regulation of TP53 Activity	1
Transcriptional activation of p53 responsive genes	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
behavior	2
post-transcriptional regulation of gene expression	2
nucleic acid binding	2
nuclear lumen	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cellular response to stress	1
regulation of body fluid levels	1
cognition	1
intracellular mRNA localization	1
myeloid cell differentiation	1
platelet morphogenesis	1
anatomical structure formation involved in morphogenesis	1
megakaryocyte differentiation	1
myeloid cell development	1
DNA damage response, signal transduction by p53 class mediator	1
regulation of DNA damage response, signal transduction by p53 class mediator	1
positive regulation of signal transduction by p53 class mediator	1
fat cell differentiation	1
positive regulation of cell differentiation	1
regulation of fat cell differentiation	1
secretory granule organization	1
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	1
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	1
cytoplasmic translation	1
regulation of translation	1
translation	1
regulation of protein metabolic process	1
RNA localization	1
protein binding	1
mRNA binding	1
transition metal ion binding	1
binding	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

680 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF385A	ERP44	Q9BS26	865
ZNF385A	ITPR1	Q14643	686
ZNF385A	TP53	P04637	609
ZNF385A	ELAVL1	Q15717	524
ZNF385A	BDNF	P23560	522
ZNF385A	SUMF1	Q8NBK3	497
ZNF385A	TXN	P10599	494
ZNF385A	CCAR2	Q8N163	478
ZNF385A	AXIN1	O15169	443
ZNF385A	E4F1	Q66K89	437
ZNF385A	CARM1	Q86X55	431
ZNF385A	CNTN4	Q8IWV2	424
ZNF385A	INO80B	Q9C086	409
ZNF385A	SNAI1	O95863	401
ZNF385A	HIPK2	Q9H2X6	399
ZNF385A	WWOX	Q9NZC7	399

IntAct

20 interactions, top by confidence:

A	B	Type	Score
N	RBM47	psi-mi:“MI:0914”(association)	0.530
LIN28B	ELAVL2	psi-mi:“MI:0914”(association)	0.530
TP53	ZNF385A	psi-mi:“MI:0915”(physical association)	0.400
UBB	ZNF385A	psi-mi:“MI:0915”(physical association)	0.400
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC16A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
N	RBM47	psi-mi:“MI:0914”(association)	0.350
H1-1	POLRMT	psi-mi:“MI:0914”(association)	0.350
LIN28A	GTPBP10	psi-mi:“MI:0914”(association)	0.350
RPS10	ZNF316	psi-mi:“MI:0914”(association)	0.350
SURF6	U2SURP	psi-mi:“MI:0914”(association)	0.350
YBX2	GTPBP10	psi-mi:“MI:0914”(association)	0.350
ILF3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
QKI	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
HNRNPA1	CNOT1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (30): ZNF385A (Affinity Capture-RNA), ZNF385A (Proximity Label-MS), ZNF385A (Affinity Capture-MS), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Protein-RNA), ZNF385A (Affinity Capture-MS), ZNF385A (Affinity Capture-RNA), ZNF385A (Reconstituted Complex)

ESM2 similar proteins: A2A5E6, A5PK23, A6NKF2, A6PWV5, B0K011, E9Q6W4, O02786, O95402, P09086, P13297, P55198, Q00196, Q08DS3, Q0VDQ9, Q29013, Q2NKI2, Q2VL80, Q2VL82, Q2VL83, Q2VL85, Q2VL86, Q569K4, Q5XI28, Q62255, Q66K41, Q6AXX3, Q6PBT9, Q86V15, Q8BXJ8, Q8IVH2, Q8K4J6, Q8TAX0, Q8VD12, Q8VDL9, Q8WUU4, Q92766, Q969V6, Q96PM9, Q9BXA9, Q9BZE0

Diamond homologs: A2A5E6, Q569K4, Q66K41, Q6AXX3, Q6PBT9, Q8AVN9, Q8BXJ8, Q8VD12, Q96PM9, Q9H6B1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	1
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1880 predictions. Top by Δscore:

Variant	Effect	Δscore
12:54370485:CC:C	acceptor_gain	1.0000
12:54370486:CC:C	acceptor_gain	1.0000
12:54370497:C:CT	acceptor_gain	1.0000
12:54370652:T:TA	donor_gain	1.0000
12:54370718:TGTG:T	acceptor_gain	1.0000
12:54370722:C:CC	acceptor_gain	1.0000
12:54370757:C:CT	acceptor_gain	1.0000
12:54370757:C:T	acceptor_gain	1.0000
12:54370758:G:T	acceptor_gain	1.0000
12:54370924:CA:C	donor_loss	1.0000
12:54371095:ACCTG:A	acceptor_loss	1.0000
12:54371105:C:CT	acceptor_gain	1.0000
12:54371105:C:T	acceptor_gain	1.0000
12:54371106:A:T	acceptor_gain	1.0000
12:54375838:TCTTA:T	donor_loss	1.0000
12:54375839:CTTAC:C	donor_loss	1.0000
12:54375840:TTACC:T	donor_loss	1.0000
12:54375841:TAC:T	donor_loss	1.0000
12:54375842:A:AT	donor_loss	1.0000
12:54384424:TTACG:T	donor_loss	1.0000
12:54384425:T:TG	donor_loss	1.0000
12:54384426:A:AC	donor_gain	1.0000
12:54384427:C:A	donor_loss	1.0000
12:54384427:C:CA	donor_gain	1.0000
12:54384427:CG:C	donor_gain	1.0000
12:54384427:CGG:C	donor_gain	1.0000
12:54384427:CGGT:C	donor_gain	1.0000
12:54384427:CGGTG:C	donor_gain	1.0000
12:54384561:CTGC:C	acceptor_gain	1.0000
12:54384565:C:CC	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000302355 (12:54388056 T>A,C), RS1000456155 (12:54376596 T>C), RS1000608681 (12:54383721 C>A), RS1000674342 (12:54369335 G>A), RS1000719261 (12:54374352 C>A), RS1000735166 (12:54376890 G>T), RS1000962160 (12:54393269 G>A,T), RS1000990254 (12:54380129 C>G), RS1001528341 (12:54389633 G>A,T), RS1001577662 (12:54370430 G>A), RS1001720822 (12:54382995 C>G), RS1001727682 (12:54389901 T>C), RS1001881692 (12:54389553 C>T), RS1001888913 (12:54376198 G>A), RS1002106955 (12:54383382 T>C)

Disease associations

OMIM: gene MIM:609124 | 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
GCST005962_20	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	7.000000e-13
GCST90020029_460	Waist circumference adjusted for body mass index	4.000000e-08

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007789	BMI-adjusted waist circumference

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

30 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	increases expression, increases methylation	4
Air Pollutants	decreases expression, increases abundance, increases expression	2
Benzo(a)pyrene	decreases methylation, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	increases abundance, increases expression	1
nickel sulfate	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Arsenic	increases expression, increases abundance	1
Aspirin	increases expression	1
Atrazine	increases expression	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
N-Nitrosopyrrolidine	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	affects expression	1
Vanadates	increases expression	1
Asbestos, Crocidolite	affects methylation	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	increases 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