PPWD1

Summary

PPWD1 (peptidylprolyl isomerase domain and WD repeat containing 1, HGNC:28954) is a protein-coding gene on chromosome 5q12.3, encoding Peptidylprolyl isomerase domain and WD repeat-containing protein 1 (Q96BP3). PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).

Enables peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in nuclear body. Part of catalytic step 2 spliceosome.

Source: NCBI Gene 23398 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 89 total
• Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
• MANE Select transcript: NM_015342

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28954
Approved symbol	PPWD1
Name	peptidylprolyl isomerase domain and WD repeat containing 1
Location	5q12.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0073
Ensembl gene	ENSG00000113593
Ensembl biotype	protein_coding
OMIM	618274
Entrez	23398

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 8 protein_coding, 5 nonsense_mediated_decay, 5 retained_intron

ENST00000261308, ENST00000502703, ENST00000503435, ENST00000505380, ENST00000507608, ENST00000508982, ENST00000510930, ENST00000511334, ENST00000511908, ENST00000513773, ENST00000514172, ENST00000515151, ENST00000515447, ENST00000535264, ENST00000538977, ENST00000902252, ENST00000934854, ENST00000942942

RefSeq mRNA: 4 — MANE Select: NM_015342 NM_001278926, NM_001278927, NM_001278929, NM_015342

CCDS: CCDS3985, CCDS64161, CCDS64162

Canonical transcript exons

ENST00000261308 — 11 exons

Exon	Start	End
ENSE00001312083	65587253	65587549
ENSE00003481973	65569632	65569732
ENSE00003491854	65563296	65563506
ENSE00003502453	65571839	65572286
ENSE00003549983	65585999	65586181
ENSE00003590373	65585014	65585095
ENSE00003598984	65579424	65579613
ENSE00003617426	65576879	65577069
ENSE00003625551	65567513	65567615
ENSE00003638700	65583038	65583219
ENSE00003661169	65569878	65569998

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 96.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.7806 / max 387.5476, expressed in 1791 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56689	22.7806	1791

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.98	gold quality
right uterine tube	UBERON:0001302	96.20	gold quality
right ovary	UBERON:0002118	95.63	gold quality
left ovary	UBERON:0002119	95.52	gold quality
nerve	UBERON:0001021	95.49	gold quality
tibial nerve	UBERON:0001323	95.49	gold quality
middle frontal gyrus	UBERON:0002702	95.47	gold quality
body of pancreas	UBERON:0001150	95.39	gold quality
colonic epithelium	UBERON:0000397	95.30	gold quality
tendon	UBERON:0000043	95.25	gold quality
rectum	UBERON:0001052	95.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.12	gold quality
endocervix	UBERON:0000458	94.99	gold quality
mucosa of stomach	UBERON:0001199	94.91	gold quality
body of uterus	UBERON:0009853	94.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.85	gold quality
cerebellar hemisphere	UBERON:0002245	94.83	gold quality
cerebellar cortex	UBERON:0002129	94.69	gold quality
sural nerve	UBERON:0015488	94.59	gold quality
right lung	UBERON:0002167	94.46	gold quality
right testis	UBERON:0004534	94.42	gold quality
right lobe of thyroid gland	UBERON:0001119	94.34	gold quality
left lobe of thyroid gland	UBERON:0001120	94.30	gold quality
skin of abdomen	UBERON:0001416	94.27	gold quality
ectocervix	UBERON:0012249	94.13	gold quality
spleen	UBERON:0002106	94.06	gold quality
left uterine tube	UBERON:0001303	94.04	gold quality
adenohypophysis	UBERON:0002196	93.92	gold quality
left testis	UBERON:0004533	93.91	gold quality
transverse colon	UBERON:0001157	93.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting PPWD1, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-100-3P	99.20	67.33	672

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• The crystal structure of human PPWD1 was studied. (PMID:18397323)
• Long non-coding RNA RP11-284F21.9 functions as a ceRNA regulating PPWD1 by competitively binding to miR-769-3p in cervical carcinoma. (PMID:32936290)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppwd1	ENSDARG00000063161
mus_musculus	Ppwd1	ENSMUSG00000021713
rattus_norvegicus	Ppwd1	ENSRNOG00000012505
drosophila_melanogaster	CG3511	FBGN0035027
caenorhabditis_elegans	cyn-15	WBGENE00000891

Paralogs (22): PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), NKTR (ENSG00000114857), PPIL4 (ENSG00000131013), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), CWC27 (ENSG00000153015), PPIB (ENSG00000166794), PPIC (ENSG00000168938), PPID (ENSG00000171497), PPIH (ENSG00000171960), PPIL6 (ENSG00000185250), PPIA (ENSG00000196262), PPIAL4G (ENSG00000236334), PPIL3 (ENSG00000240344), PPIAL4A (ENSG00000263353), PPIAL4H (ENSG00000270339), PPIAL4E (ENSG00000271567), PPIAL4F (ENSG00000279782), PPIAL4C (ENSG00000288867), PPIAL4D (ENSG00000289549)

Protein

Protein identifiers

Peptidylprolyl isomerase domain and WD repeat-containing protein 1 — Q96BP3 (reviewed: Q96BP3)

Alternative names: Spliceosome-associated cyclophilin

All UniProt accessions (10): A0A384MTS1, D6R9Q1, D6RA12, D6RB19, D6RD43, D6RDA4, Q96BP3, D6RHV0, F5H7P7, H0Y8N5

UniProt curated annotations — full annotation on UniProt →

Function. PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. May be involved in pre-mRNA splicing.

Subunit / interactions. Identified in the spliceosome C complex.

Subcellular location. Nucleus.

Activity regulation. Inhibited by cyclosporin A (CsA).

Similarity. Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96BP3-1	1	yes
Q96BP3-2	2

RefSeq proteins (4): NP_001265855, NP_001265856, NP_001265858, NP_056157* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR002130	Cyclophilin-type_PPIase_dom	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR029000	Cyclophilin-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR044666	Cyclophilin_A-like	Family

Pfam: PF00160, PF00400

Enzyme classification (BRENDA):

• EC 5.2.1.8 — peptidylprolyl isomerase (BRENDA: 69 organisms, 374 substrates, 222 inhibitors, 24 Km, 30 kcat entries)

Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
N-SUCCINYL-ALA-GLU-(TRANS)-PRO-PHE-4-NITROANILID	0.17–0.7	5
N-SUCCINYL-ALA-ALA-(CIS)-PRO-PHE-4-NITROANILIDE	0.104–0.814	2
RNASE T1	0.0004–0.0006	2
SUCCINYL-ALA-ALA-PRO-PHE 4-NITROANILIDE	0.451–1.247	2
SUCCINYL-ALA-LYS-PRO-PHE-4-NITROANILIDE	0.585–0.788	2
ALA-GLY-PSI[CS-N]-PRO-PHE-4-NITROANILIDE	0.53	1
N-SUCCINYL-ALA-LEU-(CIS)-PRO-PHE-4-NITROANILIDE	0.059	1
SUCCINYL-ALA-GLU-PRO-PHE-7-AMIDO-4-METHYLCOUMARI	0.12	1
TRYWNAKMK-(CIS)-PFIFGA	2	1
SUCCINYL-ALA-ALA-(CIS)-PRO-LYS-4-METHYLCOUMARIN-	—	0
SUCCINYL-ALA-ALA-(CIS)-PRO-PHE 4-METHYLCOUMARIN	—	0

Catalyzed reactions (Rhea), 1 shown:

• [protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0) (RHEA:16237)

UniProt features (34 total): strand 10, repeat 7, turn 5, helix 3, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, modified residue 1, splice variant 1, domain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
2A2N	X-RAY DIFFRACTION	1.65
9FMD	ELECTRON MICROSCOPY	3.3
8I0W	ELECTRON MICROSCOPY	3.4
5YZG	ELECTRON MICROSCOPY	4.1
7A5P	ELECTRON MICROSCOPY	5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BP3-F1	86.02	0.72

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 111 (showing top): RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, GARY_CD5_TARGETS_DN, REACTOME_MRNA_SPLICING, SCHLOSSER_SERUM_RESPONSE_DN, chr5q12, REACTOME_METABOLISM_OF_RNA, CHEN_NEUROBLASTOMA_COPY_NUMBER_GAINS, GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX, GOCC_NUCLEAR_BODY, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MARSON_BOUND_BY_E2F4_UNSTIMULATED

GO Biological Process (5): mRNA splicing, via spliceosome (GO:0000398), protein folding (GO:0006457), protein peptidyl-prolyl isomerization (GO:0000413), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (3): peptidyl-prolyl cis-trans isomerase activity (GO:0003755), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (5): nucleoplasm (GO:0005654), nuclear body (GO:0016604), catalytic step 2 spliceosome (GO:0071013), nucleus (GO:0005634), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
mRNA Splicing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
cellular process	1
protein maturation	1
peptidyl-proline modification	1
mRNA metabolic process	1
cis-trans isomerase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
Prp19 complex	1
spliceosomal complex	1
U5 snRNP	1
catalytic complex	1
intracellular membrane-bounded organelle	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

1450 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPWD1	DDX41	Q9UJV9	606
PPWD1	PPIG	Q13427	516
PPWD1	CENPK	Q9BS16	494
PPWD1	TRIM23	P36406	478
PPWD1	ADAMTS6	Q9UKP5	473
PPWD1	SREK1IP1	Q8N9Q2	466
PPWD1	SNRPA1	P09661	443
PPWD1	SNRNP200	O75643	423
PPWD1	ACIN1	Q9UKV3	399
PPWD1	RBM39	Q14498	398
PPWD1	SHISAL2B	A6NKW6	387
PPWD1	PPIL4	Q8WUA2	383
PPWD1	NRDE2	Q9H7Z3	375
PPWD1	CRNKL1	Q9BZJ0	367
PPWD1	PPIH	O43447	358

IntAct

30 interactions, top by confidence:

A	B	Type	Score
SEC13	SEC16A	psi-mi:“MI:0914”(association)	0.640
NCBP3	SAP18	psi-mi:“MI:0914”(association)	0.530
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
Bcas2	PEX10	psi-mi:“MI:0914”(association)	0.350
Ccdc12	PLRG1	psi-mi:“MI:0914”(association)	0.350
ZNF232	ZNF197	psi-mi:“MI:0914”(association)	0.350
SEC13	SEC16A	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
RBM39	RPS3A	psi-mi:“MI:0914”(association)	0.350
SF3A1	HSPA8	psi-mi:“MI:0914”(association)	0.350
SNRPA	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPB	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPC	DDX39A	psi-mi:“MI:0914”(association)	0.350
SNRPF	SUPT5H	psi-mi:“MI:0914”(association)	0.350
SSRP1	DDX39A	psi-mi:“MI:0914”(association)	0.350
TOP1	DDX39A	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
HSPA2	HGS	psi-mi:“MI:0914”(association)	0.350
ZMYM6	AK4	psi-mi:“MI:0914”(association)	0.350
CHRNA7	NME2P1	psi-mi:“MI:0914”(association)	0.350
PARP12	CASC3	psi-mi:“MI:0914”(association)	0.350
RAVER1	KDM6A	psi-mi:“MI:2364”(proximity)	0.270
PPWD1	vpR	psi-mi:“MI:0915”(physical association)	0.000
PPWD1		psi-mi:“MI:0915”(physical association)	0.000
PPWD1	yopM	psi-mi:“MI:0915”(physical association)	0.000
PPWD1	purL	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (73): PPWD1 (Affinity Capture-MS), ADRBK1 (Co-fractionation), PPWD1 (Co-fractionation), PPWD1 (Co-fractionation), PPWD1 (Co-fractionation), PTBP3 (Co-fractionation), PPWD1 (Affinity Capture-MS), PPWD1 (Affinity Capture-MS), PPWD1 (Affinity Capture-MS), PPWD1 (Affinity Capture-MS), PPWD1 (Affinity Capture-MS), PPWD1 (Negative Genetic), PPWD1 (Negative Genetic), PPWD1 (Positive Genetic), PPWD1 (Positive Genetic)

ESM2 similar proteins: A2VDP2, A3KMI0, B2RR83, B4NBB0, D3ZA12, F8VPZ3, O43314, O60678, P19838, P25799, P41229, P41230, P51186, P59913, Q04861, Q10003, Q14BI7, Q17902, Q1LXK4, Q1LXK5, Q29RZ2, Q38JA7, Q3MHU3, Q58CZ2, Q5NVL7, Q5R746, Q5R7E5, Q5R7K4, Q5REW0, Q5ZMR3, Q62240, Q63369, Q6BX78, Q6F3J0, Q6IQX0, Q6J5K9, Q7K175, Q7Z478, Q80Y84, Q8BHD8

Diamond homologs: D4AY02, G5EEW6, O42941, O74942, O93826, P0C196, P0C1I4, P0C1I5, P0C1I6, P0C1J0, P0C1J1, P0C1J2, P0CP84, P0CP85, P0CP86, P0CP87, P0CP88, P0CP89, P0CP90, P0CP91, P0CP92, P0CP93, P23284, P23285, P24367, P24369, P34790, P52012, P52013, P52014, P52017, P73789, P80311, P87051, Q08E11, Q09637, Q09928, Q13356, Q17QX9, Q27774

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 43 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Splicing	7	26.5×	4e-07
Processing of Capped Intron-Containing Pre-mRNA	8	22.7×	1e-07
mRNA Polyadenylation	7	21.2×	1e-06
mRNA Splicing - Major Pathway	10	18.8×	1e-08
Metabolism of RNA	10	14.4×	9e-08
SARS-CoV Infections	5	9.6×	3e-03
Dengue Virus-Host Interactions	6	9.4×	8e-04
Viral Infection Pathways	7	7.4×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	9	25.0×	1e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2236 predictions. Top by Δscore:

Variant	Effect	Δscore
5:65563503:A:T	donor_gain	1.0000
5:65567511:A:AG	acceptor_gain	1.0000
5:65567512:G:GG	acceptor_gain	1.0000
5:65567616:G:GG	donor_gain	1.0000
5:65569930:G:A	acceptor_gain	1.0000
5:65576875:CTA:C	acceptor_loss	1.0000
5:65576877:A:AG	acceptor_gain	1.0000
5:65576878:G:GG	acceptor_gain	1.0000
5:65576878:G:GT	acceptor_loss	1.0000
5:65576878:GA:G	acceptor_gain	1.0000
5:65576878:GAT:G	acceptor_gain	1.0000
5:65583023:A:AG	acceptor_gain	1.0000
5:65583034:T:A	acceptor_gain	1.0000
5:65583036:A:AG	acceptor_gain	1.0000
5:65583037:G:GC	acceptor_gain	1.0000
5:65583037:GT:G	acceptor_gain	1.0000
5:65583042:C:G	acceptor_gain	1.0000
5:65583215:GTTGA:G	donor_gain	1.0000
5:65583216:T:G	donor_gain	1.0000
5:65583216:T:TG	donor_gain	1.0000
5:65583216:TTGA:T	donor_loss	1.0000
5:65583218:GA:G	donor_gain	1.0000
5:65583219:AG:A	donor_loss	1.0000
5:65583220:GT:G	donor_loss	1.0000
5:65583220:GTAT:G	donor_gain	1.0000
5:65583221:T:A	donor_loss	1.0000
5:65585996:AAG:A	acceptor_gain	1.0000
5:65585997:A:G	acceptor_gain	1.0000
5:65585998:G:A	acceptor_gain	1.0000
5:65563552:C:G	donor_gain	0.9900

AlphaMissense

4317 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:65567549:C:A	P78H	1.000
5:65567563:T:C	Y83H	1.000
5:65567572:A:C	S86R	1.000
5:65567574:T:A	S86R	1.000
5:65567574:T:G	S86R	1.000
5:65567579:T:C	M88T	1.000
5:65567580:G:A	M88I	1.000
5:65567580:G:C	M88I	1.000
5:65567580:G:T	M88I	1.000
5:65567581:C:G	H89D	1.000
5:65567582:A:G	H89R	1.000
5:65567585:G:C	R90T	1.000
5:65567585:G:T	R90I	1.000
5:65567586:A:C	R90S	1.000
5:65567586:A:T	R90S	1.000
5:65569654:A:C	S108R	1.000
5:65569655:G:T	S108I	1.000
5:65569656:T:A	S108R	1.000
5:65569656:T:G	S108R	1.000
5:65569664:G:A	G111E	1.000
5:65569664:G:T	G111V	1.000
5:65569672:A:G	K114E	1.000
5:65569674:G:C	K114N	1.000
5:65569674:G:T	K114N	1.000
5:65569676:T:C	F115S	1.000
5:65569678:T:A	W116R	1.000
5:65569678:T:C	W116R	1.000
5:65569679:G:C	W116S	1.000
5:65569680:G:C	W116C	1.000
5:65569680:G:T	W116C	1.000

dbSNP variants (sampled 300 via entrez): RS1000106206 (5:65572405 G>C), RS1000228751 (5:65566280 A>C), RS1000524675 (5:65581110 G>C,T), RS1000529473 (5:65585792 C>T), RS1000742355 (5:65574156 G>A), RS1000751861 (5:65581358 A>G), RS1000932555 (5:65572234 T>A,C), RS1000981925 (5:65572569 A>G), RS1001089914 (5:65574527 A>G), RS1001127579 (5:65573028 C>G), RS1001270113 (5:65565623 G>A), RS1001287848 (5:65564916 C>G), RS1001354087 (5:65580200 A>G), RS1001411560 (5:65587089 T>C), RS1001450432 (5:65587087 CTT>C)

Disease associations

OMIM: gene MIM:618274 | 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

3 associations (top):

Study	Trait	p-value
GCST010701_121	Cortical surface area (MOSTest)	6.000000e-11
GCST010702_62	Subcortical volume (MOSTest)	6.000000e-12
GCST010703_77	Brain morphology (MOSTest)	2.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging 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

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	affects expression, decreases expression	2
dicrotophos	decreases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
isobutyl alcohol	decreases expression, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases secretion	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Ethanol	affects cotreatment, decreases expression, increases abundance	1
Dactinomycin	affects cotreatment, increases secretion	1
Dinitrochlorobenzene	affects binding	1
Gasoline	decreases expression, increases abundance, affects cotreatment	1
Lead	affects expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	decreases expression, increases abundance, affects cotreatment	1
Quercetin	decreases expression	1
1-Butanol	decreases expression, increases abundance, affects cotreatment	1
Particulate Matter	affects cotreatment, decreases expression, increases abundance	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