EVPL

Summary

EVPL (envoplakin, HGNC:3503) is a protein-coding gene on chromosome 17q25.1, encoding Envoplakin (Q92817). Component of the cornified envelope of keratinocytes.

This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein.

Source: NCBI Gene 2125 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• GWAS associations: 5
• Clinical variants (ClinVar): 433 total
• MANE Select transcript: NM_001988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3503
Approved symbol	EVPL
Name	envoplakin
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	EVPK
Ensembl gene	ENSG00000167880
Ensembl biotype	protein_coding
OMIM	601590
Entrez	2125

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 retained_intron

ENST00000301607, ENST00000586740, ENST00000587569, ENST00000589231, ENST00000593037, ENST00000870829, ENST00000870830

RefSeq mRNA: 2 — MANE Select: NM_001988 NM_001320747, NM_001988

CCDS: CCDS11737, CCDS82207

Canonical transcript exons

ENST00000301607 — 22 exons

Exon	Start	End
ENSE00001117959	76006845	76010543
ENSE00001117961	76017739	76017911
ENSE00001117963	76018161	76018258
ENSE00001117967	76018446	76018600
ENSE00001294715	76027101	76027306
ENSE00003462949	76019528	76019653
ENSE00003483040	76018914	76019060
ENSE00003489118	76024021	76024120
ENSE00003490968	76015450	76015628
ENSE00003493438	76021468	76021563
ENSE00003541266	76014426	76014576
ENSE00003550581	76021674	76021781
ENSE00003559978	76022189	76022227
ENSE00003579119	76012006	76012089
ENSE00003580091	76015227	76015365
ENSE00003581766	76023292	76023418
ENSE00003585826	76022413	76022538
ENSE00003615265	76021867	76022028
ENSE00003617174	76014916	76015109
ENSE00003634818	76011576	76011668
ENSE00003637640	76011772	76011882
ENSE00003643990	76023500	76023654

Expression profiles

Bgee: expression breadth ubiquitous, 187 present calls, max score 99.35.

FANTOM5 (CAGE): breadth broad, TPM avg 5.3370 / max 273.0761, expressed in 394 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168154	3.4435	326
168155	1.5236	373
168153	0.3699	140

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	99.35	gold quality
esophagus mucosa	UBERON:0002469	97.49	gold quality
skin of abdomen	UBERON:0001416	96.96	gold quality
skin of leg	UBERON:0001511	96.87	gold quality
pharyngeal mucosa	UBERON:0000355	95.77	gold quality
zone of skin	UBERON:0000014	95.19	gold quality
tongue squamous epithelium	UBERON:0006919	93.78	gold quality
upper arm skin	UBERON:0004263	93.11	gold quality
gingiva	UBERON:0001828	92.97	gold quality
oral cavity	UBERON:0000167	92.39	gold quality
gingival epithelium	UBERON:0001949	92.25	gold quality
upper leg skin	UBERON:0004262	91.03	gold quality
epithelium of esophagus	UBERON:0001976	90.01	gold quality
squamous epithelium	UBERON:0006914	89.98	gold quality
nipple	UBERON:0002030	89.54	gold quality
esophagus squamous epithelium	UBERON:0006920	89.54	gold quality
mammalian vulva	UBERON:0000997	89.50	gold quality
cervix epithelium	UBERON:0004801	89.00	gold quality
vagina	UBERON:0000996	88.21	gold quality
endometrium epithelium	UBERON:0004811	87.85	gold quality
body of tongue	UBERON:0011876	87.41	gold quality
penis	UBERON:0000989	87.04	gold quality
cervix squamous epithelium	UBERON:0006922	86.97	silver quality
mucosa of transverse colon	UBERON:0004991	85.11	gold quality
pancreatic ductal cell	CL:0002079	84.99	silver quality
tongue	UBERON:0001723	83.89	gold quality
metanephros cortex	UBERON:0010533	83.85	gold quality
mouth mucosa	UBERON:0003729	83.38	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.71	silver quality
hair follicle	UBERON:0002073	81.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.36

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PAX1, RELA, SP1, TP63

miRNA regulators (miRDB)

20 targeting EVPL, 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-5692A	100.00	74.40	6850
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-450B-3P	97.56	66.12	512
HSA-MIR-769-3P	97.06	64.83	464
HSA-MIR-7847-3P	96.63	64.58	952
HSA-MIR-6889-5P	90.26	64.13	291
HSA-MIR-6777-5P	88.76	62.64	222

Literature-anchored findings (GeneRIF, showing 7)

• envoplakin and periplakin bind to the plasma membrane upon elevation of intracellular [Ca(2+)] in differentiating keratinocytes, where they serve as a scaffold for cornified cell envelope assembly (PMID:15033990)
• EVPL might not be the target gene responsible for oesophageal cancer, despite its strong candidacy in terms of character and localization (PMID:15756445)
• autoantibodies are detected in patients with paraneoplastic pemphigus (PMID:18820940)
• A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. (PMID:22360420)
• We confirmed associations with papillary thyroid cancer and SNPs in FOXE1/HEMGN, SERPINA5 (rs2069974), FTO (rs8047395), EVPL (rs2071194), TICAM1 (rs8120) and SCARB1 (rs11057820) genes. We found associations with SNPs in FOXE1, SERPINA5, FTO, TICAM1 and HSPA6 and and follicular thyroid cancer (PMID:27207655)
• N-terminus extremities of envoplakin and C-terminus of its linker subdomain are major epitopes of paraneoplastic pemphigus (PMID:27427435)
• Frequency of Envoplakin and Type VII Collagen Autoantibodies and Co-occurrence with Other Skin-specific Autoantibodies in HIV-infected Patients and Uninfected Controls. (PMID:34694419)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	evpla	ENSDARG00000019808
		ENSDARG00000103459
mus_musculus	Evpl	ENSMUSG00000034282
rattus_norvegicus	Evpl	ENSRNOG00000009343

Paralogs (2): PPL (ENSG00000118898), EVPLL (ENSG00000214860)

Protein

Protein identifiers

Envoplakin — Q92817 (reviewed: Q92817)

Alternative names: 210 kDa cornified envelope precursor protein, 210 kDa paraneoplastic pemphigus antigen, p210

All UniProt accessions (3): Q92817, K7EKI0, K7EQ87

UniProt curated annotations — full annotation on UniProt →

Function. Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments.

Subunit / interactions. May form a homodimer or a heterodimer with PPL.

Subcellular location. Cell junction. Desmosome. Cornified envelope. Cytoplasm. Cytoskeleton.

Tissue specificity. Exclusively expressed in stratified squamous epithelia.

Induction. During differentiation of epidermal keratinocytes.

Similarity. Belongs to the plakin or cytolinker family.

RefSeq proteins (2): NP_001307676, NP_001979* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001101	Plectin_repeat	Repeat
IPR001452	SH3_domain	Domain
IPR018159	Spectrin/alpha-actinin	Repeat
IPR035915	Plakin_repeat_sf	Homologous_superfamily
IPR041615	Desmoplakin_SH3	Domain
IPR043197	Plakin	Family
IPR055419	Spectrin_PEPL/EVPL	Domain
IPR058847	Plectin_PPL	Domain

Pfam: PF00681, PF17902, PF23160, PF26346

UniProt features (54 total): helix 11, region of interest 9, repeat 8, turn 6, compositionally biased region 5, sequence variant 4, strand 4, modified residue 3, chain 1, coiled-coil region 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4QMD	X-RAY DIFFRACTION	1.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92817-F1	71.90	0.18

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 (3): 1575, 1799, 2025

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6809371	Formation of the cornified envelope

MSigDB gene sets: 138 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, JAEGER_METASTASIS_DN, PEREZ_TP63_TARGETS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_PEPTIDE_CROSS_LINKING, GGGTGGRR_PAX4_03, GOBP_WOUND_HEALING, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, MODULE_285

GO Biological Process (7): regulation of antibacterial peptide production (GO:0002786), epidermis development (GO:0008544), peptide cross-linking (GO:0018149), keratinocyte differentiation (GO:0030216), keratinization (GO:0031424), wound healing (GO:0042060), intermediate filament cytoskeleton organization (GO:0045104)

GO Molecular Function (3): structural molecule activity (GO:0005198), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (10): cornified envelope (GO:0001533), cytoplasm (GO:0005737), cytosol (GO:0005829), membrane (GO:0016020), desmosome (GO:0030057), intermediate filament cytoskeleton (GO:0045111), extracellular exosome (GO:0070062), cytoskeleton (GO:0005856), intermediate filament (GO:0005882), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
antibacterial peptide production	1
regulation of antimicrobial peptide production	1
tissue development	1
protein modification process	1
epidermal cell differentiation	1
skin development	1
keratinocyte differentiation	1
multicellular organismal process	1
response to wounding	1
tissue regeneration	1
cytoskeleton organization	1
intermediate filament-based process	1
molecular_function	1
cell adhesion molecule binding	1
binding	1
plasma membrane	1
intracellular anatomical structure	1
cytoplasm	1
cell-cell junction	1
cytoskeleton	1
extracellular vesicle	1
intracellular membraneless organelle	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
cell junction	1

Protein interactions and networks

STRING

1588 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EVPL	PPL	O60437	980
EVPL	ABL1	P00519	958
EVPL	DSP	P15924	923
EVPL	DSG1	Q02413	833
EVPL	DSG3	P32926	817
EVPL	PKP1	Q13835	775
EVPL	GOLGA4	Q13439	771
EVPL	IVL	P07476	766
EVPL	EIF3A	Q14152	764
EVPL	MAK	P20794	762
EVPL	DOK1	Q99704	749
EVPL	DST	Q03001	744
EVPL	LORICRIN	P23490	737
EVPL	A2ML1	A8K2U0	694
EVPL	TGM1	P22735	681

IntAct

99 interactions, top by confidence:

A	B	Type	Score
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
AATF	NGDN	psi-mi:“MI:0914”(association)	0.810
ZSCAN12	A2ML1	psi-mi:“MI:0914”(association)	0.530
FRMD1	A2ML1	psi-mi:“MI:0914”(association)	0.530
TBC1D22B	A2ML1	psi-mi:“MI:0914”(association)	0.530
RBM24	PPL	psi-mi:“MI:0914”(association)	0.530
ACAD9	PPL	psi-mi:“MI:0914”(association)	0.530
SSBP2	CLEC18A	psi-mi:“MI:0914”(association)	0.530
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
EVPL	CORO1C	psi-mi:“MI:0915”(physical association)	0.400
Bcas2	PEX10	psi-mi:“MI:0914”(association)	0.350
Ctnnbl1	LCMT2	psi-mi:“MI:0914”(association)	0.350
TSNAX		psi-mi:“MI:0914”(association)	0.350
Jup		psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
PI4KA	A2ML1	psi-mi:“MI:0914”(association)	0.350
PDE4DIP	A2ML1	psi-mi:“MI:0914”(association)	0.350
CCNYL1	A2ML1	psi-mi:“MI:0914”(association)	0.350
CDK15	A2ML1	psi-mi:“MI:0914”(association)	0.350
ACAD9	A2ML1	psi-mi:“MI:0914”(association)	0.350
ITGA9	IGLL5	psi-mi:“MI:0914”(association)	0.350
SUSD3	IGLL5	psi-mi:“MI:0914”(association)	0.350
DDX19B	IGLL5	psi-mi:“MI:0914”(association)	0.350
ZSCAN20	ZNF197	psi-mi:“MI:0914”(association)	0.350
FCF1	SULT2B1	psi-mi:“MI:0914”(association)	0.350
TIFAB	DDX3X	psi-mi:“MI:0914”(association)	0.350

BioGRID (127): EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Co-fractionation), EVPL (Co-fractionation), EVPL (Co-fractionation), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS), EVPL (Proximity Label-MS), EVPL (Affinity Capture-MS), EVPL (Affinity Capture-MS)

ESM2 similar proteins: A0A8M2BID5, A0A8M9PQ61, A1Z7A6, D3ZHV2, E9Q557, F1LMV6, F1M0Z1, G3V7L1, O43150, O60229, O60437, O75962, O97592, O97902, P0CE94, P0CE95, P10911, P11530, P11531, P11532, P11533, P15924, P30427, P33175, P46939, Q03001, Q0KL02, Q15149, Q1AAU6, Q1LUA6, Q5GN48, Q6ZWR6, Q7SIG6, Q8CIS0, Q8NF91, Q8WXH0, Q91ZU6, Q92817, Q95RG8, Q9BXL7

Diamond homologs: A0A8M2BID5, A0A8M9PQ61, D3ZHV2, E9Q557, F1LMV6, P15924, P30427, P58107, Q15149, Q8R0W0, Q92817, Q9D952, Q9JI55, Q9QXS1, A8MZ36, Q03001, Q91ZU6, Q9QXZ0, Q9UPN3, O60437, Q9R269

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	373
Likely benign	32
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3216 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76005293:CCTA:C	acceptor_loss	1.0000
17:76005296:A:AG	acceptor_gain	1.0000
17:76005296:AGC:A	acceptor_loss	1.0000
17:76005297:G:A	acceptor_loss	1.0000
17:76005297:G:GA	acceptor_gain	1.0000
17:76005297:GC:G	acceptor_gain	1.0000
17:76005297:GCA:G	acceptor_gain	1.0000
17:76005297:GCAA:G	acceptor_gain	1.0000
17:76011535:T:TA	donor_gain	1.0000
17:76011571:TGTAC:T	donor_loss	1.0000
17:76011572:GTACC:G	donor_loss	1.0000
17:76011573:TACC:T	donor_loss	1.0000
17:76011574:A:C	donor_loss	1.0000
17:76011666:CTC:C	acceptor_gain	1.0000
17:76011667:TCCTG:T	acceptor_loss	1.0000
17:76011668:CCTGG:C	acceptor_loss	1.0000
17:76011669:C:CA	acceptor_loss	1.0000
17:76011669:C:CC	acceptor_gain	1.0000
17:76011670:T:A	acceptor_loss	1.0000
17:76011679:C:CT	acceptor_gain	1.0000
17:76011680:A:T	acceptor_gain	1.0000
17:76011766:TCTCA:T	donor_loss	1.0000
17:76011767:CTCA:C	donor_loss	1.0000
17:76011768:TCACC:T	donor_loss	1.0000
17:76011769:CACCT:C	donor_loss	1.0000
17:76011770:A:C	donor_loss	1.0000
17:76011771:C:CG	donor_loss	1.0000
17:76011878:TAGTC:T	acceptor_gain	1.0000
17:76011880:GTC:G	acceptor_gain	1.0000
17:76011881:TC:T	acceptor_gain	1.0000

AlphaMissense

13192 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76007615:C:G	A1864P	0.997
17:76007618:C:G	A1863P	0.997
17:76007447:C:G	A1920P	0.996
17:76007491:C:T	G1905D	0.996
17:76007614:G:T	A1864D	0.996
17:76007496:G:C	F1903L	0.995
17:76007496:G:T	F1903L	0.995
17:76007498:A:G	F1903L	0.995
17:76007624:C:G	A1861P	0.995
17:76007632:A:G	L1858P	0.995
17:76007878:A:G	F1776S	0.995
17:76008038:A:G	W1723R	0.995
17:76008038:A:T	W1723R	0.995
17:76023407:A:G	L122P	0.995
17:76008036:C:A	W1723C	0.994
17:76008036:C:G	W1723C	0.994
17:76023563:A:G	L97P	0.994
17:76023398:C:G	R125P	0.993
17:76007219:C:G	A1996P	0.992
17:76007401:A:G	L1935P	0.992
17:76007446:G:T	A1920D	0.992
17:76007492:C:G	G1905R	0.992
17:76007391:C:A	Q1938H	0.991
17:76007391:C:G	Q1938H	0.991
17:76024071:C:G	A50P	0.991
17:76007374:A:G	L1944P	0.990
17:76007561:C:G	A1882P	0.990
17:76007725:A:T	I1827N	0.990
17:76023572:A:G	L94P	0.990
17:76007491:C:A	G1905V	0.989

dbSNP variants (sampled 300 via entrez): RS1000066499 (17:76027855 A>G), RS1000085364 (17:76018266 G>A), RS1000086153 (17:76022070 G>C), RS1000379281 (17:76012896 C>T), RS1000640245 (17:76006583 C>T), RS1000885310 (17:76010860 A>C), RS1001050404 (17:76008212 T>G), RS1001066675 (17:76026482 G>A,C), RS1001387633 (17:76027290 G>T), RS1001499022 (17:76020615 T>A), RS1001598088 (17:76021716 CTCGCCGTCG>C), RS1001748329 (17:76015402 G>A), RS1002398692 (17:76025741 C>A), RS1002454968 (17:76012211 G>A,T), RS1002486171 (17:76012491 C>T)

Disease associations

OMIM: gene MIM:601590 | 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

5 associations (top):

Study	Trait	p-value
GCST007666_14	Depressive symptom improvement	4.000000e-06
GCST009391_1146	Metabolite levels	7.000000e-06
GCST010107_20	L-selectin levels	7.000000e-06
GCST010726_70	Periventricular white matter hyperintensities	7.000000e-09
GCST010727_41	Deep white matter hyperintensities	2.000000e-14

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007006	depressive symptom measurement
EFO:0010457	Alpha ketoglutarate measurement
EFO:0008202	L-Selectin measurement
EFO:0005665	white matter hyperintensity measurement

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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation, decreases expression	2
sodium arsenite	increases expression	2
Air Pollutants	increases expression, affects cotreatment, increases abundance, increases oxidation	2
Benzo(a)pyrene	increases mutagenesis, decreases methylation, increases methylation	2
Tetrachlorodibenzodioxin	increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases methylation	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
pyrogallol 1,3-dimethyl ether	affects localization, decreases expression, increases expression, affects cotreatment	1
arsenite	affects binding, decreases reaction	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
abrine	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	decreases response to substance	1
Fulvestrant	affects cotreatment, decreases methylation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Calcitriol	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dinitrochlorobenzene	affects binding	1
Furaldehyde	affects cotreatment, affects localization, decreases expression	1
Lead	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	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