TNPO1

Summary

TNPO1 (transportin 1, HGNC:6401) is a protein-coding gene on chromosome 5q13.2, encoding Transportin-1 (Q92973). Functions in nuclear protein import as nuclear transport receptor. It is a selective cancer dependency (DepMap: 31.9% of cell lines).

This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in several transcript variants encoding different proteins.

Source: NCBI Gene 3842 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cataract 15 multiple types (Definitive, GenCC) — +7 more curated relationships
• GWAS associations: 28
• Clinical variants (ClinVar): 227 total — 15 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 31.9% of screened cell lines
• MANE Select transcript: NM_002270

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6401
Approved symbol	TNPO1
Name	transportin 1
Location	5q13.2
Locus type	gene with protein product
Status	Approved
Aliases	MIP, TRN, IPO2, MIP1
Ensembl gene	ENSG00000083312
Ensembl biotype	protein_coding
OMIM	602901
Entrez	3842

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 12 protein_coding, 8 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000337273, ENST00000503084, ENST00000505082, ENST00000506351, ENST00000506528, ENST00000508762, ENST00000509030, ENST00000511754, ENST00000513944, ENST00000515483, ENST00000518279, ENST00000520850, ENST00000523768, ENST00000605210, ENST00000679378, ENST00000680025, ENST00000680111, ENST00000680533, ENST00000681711, ENST00000895477, ENST00000895478, ENST00000895479, ENST00000895480, ENST00000895481, ENST00000944758

RefSeq mRNA: 7 — MANE Select: NM_002270 NM_001364292, NM_001364293, NM_001364294, NM_001364295, NM_001364296, NM_002270, NM_153188

CCDS: CCDS4016, CCDS43329, CCDS93732, CCDS93733

Canonical transcript exons

ENST00000337273 — 25 exons

Exon	Start	End
ENSE00000752440	72865596	72865729
ENSE00001925200	72908709	72914388
ENSE00002212634	72893139	72893246
ENSE00002222197	72887070	72887222
ENSE00002231362	72888078	72888303
ENSE00002305754	72893377	72893535
ENSE00003235032	72900974	72901073
ENSE00003253564	72896458	72896556
ENSE00003292584	72889786	72889957
ENSE00003317917	72891810	72891896
ENSE00003350786	72893616	72893703
ENSE00003366077	72897056	72897151
ENSE00003431492	72900006	72900081
ENSE00003473823	72877228	72877346
ENSE00003477851	72872639	72872720
ENSE00003484653	72855774	72855923
ENSE00003491909	72875615	72875737
ENSE00003513790	72905303	72905445
ENSE00003528442	72861808	72861914
ENSE00003537675	72883064	72883232
ENSE00003602767	72882467	72882527
ENSE00003615011	72903709	72903783
ENSE00003631090	72848385	72848498
ENSE00003647928	72851244	72851319
ENSE00003917906	72816661	72816752

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 105.8212 / max 499.4646, expressed in 1828 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
57016	47.6938	1825
57009	45.1594	1810
57017	8.4269	1738
57022	1.8971	977
57015	1.4074	767
57008	1.2366	815

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	99.74	gold quality
caput epididymis	UBERON:0004358	99.73	gold quality
cauda epididymis	UBERON:0004360	99.73	gold quality
pylorus	UBERON:0001166	99.64	gold quality
secondary oocyte	CL:0000655	99.63	gold quality
cranial nerve II	UBERON:0000941	99.56	gold quality
cardia of stomach	UBERON:0001162	99.44	gold quality
renal medulla	UBERON:0000362	99.41	gold quality
cervix squamous epithelium	UBERON:0006922	99.39	gold quality
pericardium	UBERON:0002407	99.35	gold quality
nipple	UBERON:0002030	99.29	gold quality
visceral pleura	UBERON:0002401	99.27	gold quality
trigeminal ganglion	UBERON:0001675	99.23	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	99.23	gold quality
mammary duct	UBERON:0001765	99.18	gold quality
superior surface of tongue	UBERON:0007371	99.18	gold quality
inferior olivary complex	UBERON:0002127	99.16	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.06	gold quality
saphenous vein	UBERON:0007318	99.04	gold quality
parietal pleura	UBERON:0002400	99.01	gold quality
trabecular bone tissue	UBERON:0002483	98.98	gold quality
medulla oblongata	UBERON:0001896	98.97	gold quality
epithelium of mammary gland	UBERON:0003244	98.95	gold quality
pharyngeal mucosa	UBERON:0000355	98.86	gold quality
ventral tegmental area	UBERON:0002691	98.86	gold quality
germinal epithelium of ovary	UBERON:0001304	98.83	gold quality
superficial temporal artery	UBERON:0001614	98.83	gold quality
inferior vagus X ganglion	UBERON:0005363	98.83	gold quality
urethra	UBERON:0000057	98.79	gold quality
pleura	UBERON:0000977	98.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRF3, PITX3

miRNA regulators (miRDB)

512 targeting TNPO1, 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-4262	100.00	73.26	3931
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3662	99.99	73.82	5684

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 31.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• nuclear import of the HPV16 E6 oncoprotein in digitonin-permeabilized HeLa cells could be mediated by Kap beta2 (PMID:12551970)
• 1 major capsid protein of human papillomavirus type 11 interacts with Kap beta2 nuclear import receptor (PMID:12620808)
• HPV16 L2 interacts via its NLSs with a network of karyopherins and can enter the nucleus via several import pathways mediated by Kapalpha(2)beta(1) heterodimers, Kapbeta(2), and Kapbeta(3). (PMID:15507604)
• Results describe four crystal structures of human transoprtin 1 in a substrate-free form as well as in the complex with three nuclear localization signals. (PMID:17936704)
• the 3.0 A crystal structure of unliganded Kap beta2, which consists of a superhelix of 20 HEAT repeats (PMID:17997969)
• TRN1-binding to CCR2 promotes its nuclear translocation in a TRN1-dependent manner. (PMID:18846510)
• Data suggest that increased MIP-1alpha/beta production enhances multiple myeloma cell binding to stromal cells by VLA-4-VCAM-1 adhesion, forming a “vicious cycle” between MM cell adhesion to stromal cells and MIP-1 production via VLA-4-VCAM-1 interaction. (PMID:19057841)
• we identify transportin-1 as the import receptor for ADAR1. (PMID:19124606)
• Ran in complex with importin-beta has a higher affinity for GTP. This feature is responsible for the generation of Ran-GTP from Ran-GDP by importin-beta. (PMID:19549784)
• The interplay of the two negative regulators, transportin and importin beta, along with the positive regulator RanGTP, allows precise choreography of multiple cell cycle assembly events. (PMID:19641022)
• Results suggest that hnRNP H and F are nuclear shuttling proteins whose posttranslational modifications may alter interaction with transportin 1, nuclear localization, and hence function. (PMID:20308327)
• Nuclear import of fused in sarcoma (FUS) is dependent on Transportin, and interference with this transport pathway leads to cytoplasmic redistribution and recruitment of fused in sarcoma (FUS) into stress granules. (PMID:20606625)
• Data demonstrate that Importin beta2 is necessary for localization of retinitis pigmentosa 2 (RP2) to the primary cilium, and identify two distinct binding sites of RP2, which interact independently with Importin beta2. (PMID:21285245)
• Transportin binding might delay methylation of PABPN1 until after nuclear import. (PMID:21808065)
• These data imply a specific dysfunction in the interaction between Trn1 and FET proteins in the inclusion body formation in FTLD-FUS. (PMID:22842875)
• C-terminal FUS mutations prevent TNPO 1 binding to the NLS, inhibiting nuclear import and promoting cytoplasmic aggregation. The presence of TNPO 1 in wild-type FUS aggregates in frontotemporal lobar degeneration-FUS distinguishes it from ALS. (PMID:22934812)
• arginine methylation impairs TRN dependent nuclear import of FUS, by decreasing binding of TRN to a novel TRN-binding motif next to the proline-tyrosine nuclear localization signal of FUS. (PMID:22968170)
• Identification of a karyopherin beta1/beta2 proline-tyrosine nuclear localization signal in huntingtin protein. (PMID:23012356)
• The crystal structure of the FUS-NLS/Trn1 complex shows extensive contacts between the two proteins and a unique alpha-helical structure in the FUS-NLS. (PMID:23056579)
• In case of L7, importin beta2 or importin beta3 are preferentially used by clusters with a high import efficiency. (PMID:23266416)
• Disulfide formation with transportin-1 is required for nuclear localization and the activation of FOXO4 induced by reactive oxygen species. (PMID:23333309)
• Crystal structure of human Karyopherin beta2 bound to the PY-NLS of Saccharomyces cerevisiae Nab2 (PMID:23535894)
• Data suggest the C-terminal nuclear localization domain (QYP) is critical for RAM (RNMT-activating mini protein) to enter the cell nucleus where RAM activates RNMT resulting in mRNA cap methylation; TNPO1/TNPO2 mediate RAM nuclear entry. (PMID:24200467)
• ADAR1 carries a unique nuclear localization signal (NLS) that overlaps one of its double-stranded RNA-binding domains (dsRBDs). This dsRBD-NLS is recognized by nuclear import receptor transportin 1 (also called karyopherin-beta2) in an RNA-sensitive manner. (PMID:24753571)
• Studies indicate potential roles of Tranportin-1 and Transportin-2 beyond protein nuclear import. (PMID:24780099)
• Kapbeta2 interacts with ULK2 through ULK2’s putative PY-NLS motif, and facilitates transport from the cytoplasm to the nucleus, depending on its Ser1027 residue phosphorylation by PKA, thereby reducing autophagic activity. (PMID:26052940)
• FGF2 nuclear translocation is regulated by Karyopherin-beta2 and Ran GTPase in human glioblastoma cells (PMID:26056081)
• A molecular docking and dynamics study concluded that R521C and R521H mutations in FUS result in weak binding with Karyopherin-beta2 leading to amyotrophic lateral sclerosis. (PMID:27381509)
• Importins, Impbeta, Kapbeta2, Imp4, Imp5, Imp7, Imp9, and Impalpha, show the H3 tail binding more tightly than the H4 tail. The H3 tail binds Kapbeta2 and Imp5 with KD values of 77 and 57 nm, respectively, and binds the other five Importins more weakly. (PMID:27528606)
• Results show that Karyopherin-b2 binds to the N-terminal tail of histone H3 with high affinity even though H3 lacks a recognizable proline-tyrosine nuclear localization signal (PY-NLS). (PMID:27618664)
• the TNPO1-Rab8-ciliary targeting signals complex mediates selective entry into and retention of cargos within cilia. (PMID:27633000)
• Together, these results indicate that transportin-1 mediates YB-1 nuclear translocation. (PMID:27794479)
• findings suggest that a new player, i.e., O-GlcNAcylation, regulates hnRNP A1 translocation and interaction with Trn1, possibly affecting its function (PMID:27913144)
• Data suggest that micoRNA-128 targets the 3prime-untranslated region of nuclear import factor transportin 1 (TNPO1) mRNA. (PMID:28974576)
• TNPO1-mediated nuclear import may constitute a novel input pathway of how cellular redox state signals to the clock, since redox stress increases binding of TNPO1 to PER1 and decreases its nuclear localization. TNPO1 is one of the novel players essential for normal circadian periods and potentially for redox regulation of the clock. (PMID:29377895)
• high-affinity binding of karyopherin-beta2 to the FUS C-terminal proline-tyrosine nuclear localization signal tethers the proteins together, allowing multiple, distributed weak intermolecular contacts to disrupt FUS self-association, blocking liquid-liquid phase separation (PMID:29677513)
• Transportin 1, a member of the importin-beta family proteins, binds to a PY-NLS(2) sequence motif close to the amino terminus of matrix protein (M1) exposed during acid priming of the viral core. (PMID:30692667)
• Study provides evidence that TRN-1 mediates the timely release of the HIV-1 genome from the capsid protein shell and efficient viral nuclear import. (PMID:31611641)
• The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin beta2 receptor. (PMID:32041777)
• Nup358 and Transportin 1 Cooperate in Adenoviral Genome Import. (PMID:32161167)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tnpo1	ENSDARG00000035390
mus_musculus	Tnpo1	ENSMUSG00000009470
rattus_norvegicus	Tnpo1	ENSRNOG00000014999
drosophila_melanogaster	CG8219	FBGN0035693
caenorhabditis_elegans		WBGENE00002076

Paralogs (5): IPO5 (ENSG00000065150), TNPO2 (ENSG00000105576), KPNB1 (ENSG00000108424), RANBP6 (ENSG00000137040), IPO4 (ENSG00000196497)

Protein

Protein identifiers

Transportin-1 — Q92973 (reviewed: Q92973)

Alternative names: Importin beta-2, Karyopherin beta-2, M9 region interaction protein

All UniProt accessions (7): Q92973, A0A7P0T944, A0A7P0T9C0, A0A7P0TBF0, A0A7P0Z4D3, E7EW37, S4R398

UniProt curated annotations — full annotation on UniProt →

Function. Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. May mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Involved in nuclear import of M9-containing proteins. In vitro, binds directly to the M9 region of the heterogeneous nuclear ribonucleoproteins (hnRNP), A1 and A2 and mediates their nuclear import. Involved in hnRNP A1/A2 nuclear export. Mediates the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. In vitro, mediates nuclear import of SRP19. Mediates nuclear import of ADAR/ADAR1 isoform 1 and isoform 5 in a RanGTP-dependent manner. Main mediator of PR-DUB complex component BAP1 nuclear import; acts redundantly with the karyopherins KPNA1 and KPNA2. (Microbial infection) In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev.

Subunit / interactions. Identified in a complex that contains TNPO1, RAN and RANBP1. Binds HNRPA1, HNRPA2, HNRNPDL, RPS7, RPL5 and RAN. Interacts with H2A, H2B, H3 and H4 histones. Interacts with isoform 1 and isoform 5 of ADAR/ADAR1 (via DRBM 3 domain). Interacts with SNAI1 (via zinc fingers); the interaction mediates SNAI1 nuclear import. Interacts with SNAI2 (via zinc fingers). Interacts with RPL23A (via BIB domain) and SRP19; this interaction is involved in RPL23A and SRP19 import into the nucleus. Interacts (via HEAT repeats 8-12) with BAP1 (via non-classical PY-NLS); this interaction is direct, is involved in BAP1 nuclear import and disrupts BAP1 homodimerization. (Microbial infection) Binds to HIV-1 Rev.

Subcellular location. Cytoplasm. Nucleus.

Similarity. Belongs to the importin beta family. Importin beta-2 subfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
Q92973-1	1	yes
Q92973-2	2
Q92973-3	3

RefSeq proteins (6): NP_001351221, NP_001351222, NP_001351223, NP_001351224, NP_002261, NP_694858 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001494	Importin-beta_N	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR040122	Importin_beta	Family
IPR057672	TPR_IPO4/5	Domain
IPR058584	IMB1_TNPO1-like_TPR	Domain

Pfam: PF03810, PF13513, PF25574, PF25780

UniProt features (121 total): helix 68, repeat 20, strand 9, turn 9, sequence conflict 4, site 2, splice variant 2, mutagenesis site 2, chain 1, modified residue 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

21 structures.

PDB	Method	Resolution (Å)
4FDD	X-RAY DIFFRACTION	2.3
2Z5K	X-RAY DIFFRACTION	2.6
4OO6	X-RAY DIFFRACTION	2.7
7CYL	X-RAY DIFFRACTION	2.7
5YVI	X-RAY DIFFRACTION	2.9
1QBK	X-RAY DIFFRACTION	3
2QMR	X-RAY DIFFRACTION	3
2Z5M	X-RAY DIFFRACTION	3
4FQ3	X-RAY DIFFRACTION	3
5TQC	X-RAY DIFFRACTION	3
2H4M	X-RAY DIFFRACTION	3.05
4JLQ	X-RAY DIFFRACTION	3.05
5J3V	X-RAY DIFFRACTION	3.05
2OT8	X-RAY DIFFRACTION	3.1
5YVH	X-RAY DIFFRACTION	3.15
8SGH	ELECTRON MICROSCOPY	3.17
2Z5N	X-RAY DIFFRACTION	3.2
2Z5O	X-RAY DIFFRACTION	3.2
2Z5J	X-RAY DIFFRACTION	3.4
7VPW	X-RAY DIFFRACTION	3.76
5YVG	X-RAY DIFFRACTION	4.05

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92973-F1	92.24	0.83

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 468 (important for interaction with cargo nuclear localization signals); 738 (important for interaction with cargo nuclear localization signals)

Post-translational modifications (1): 1

Mutagenesis-validated functional residues (2):

Position	Phenotype
468	abolishes interaction with the adar nuclear localization signal. abolishes adar nuclear import.
738	abolishes interaction with the adar nuclear localization signal. abolishes adar nuclear import.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-450513	Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
R-HSA-5620924	Intraflagellar transport
R-HSA-9615933	Postmitotic nuclear pore complex (NPC) reformation

MSigDB gene sets: 514 (showing top): WENDT_COHESIN_TARGETS_UP, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, JI_RESPONSE_TO_FSH_UP, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, SP3_Q3, TACAATC_MIR508, MODULE_352, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOMF_GTPASE_BINDING, PATIL_LIVER_CANCER, GOBP_NUCLEAR_TRANSPORT, GOBP_CELL_CELL_ADHESION, GOBP_WATER_TRANSPORT, ONKEN_UVEAL_MELANOMA_UP

GO Biological Process (3): protein import into nucleus (GO:0006606), intracellular protein transport (GO:0006886), protein transport (GO:0015031)

GO Molecular Function (5): RNA binding (GO:0003723), nuclear localization sequence binding (GO:0008139), small GTPase binding (GO:0031267), nuclear import signal receptor activity (GO:0061608), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829), cilium (GO:0005929), extracellular exosome (GO:0070062), nuclear lumen (GO:0031981)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Regulation of mRNA stability by proteins that bind AU-rich elements	1
Assembly of the 9+0 primary cilium	1
Nuclear Envelope (NE) Reassembly	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
import into nucleus	2
intracellular protein localization	2
nuclear lumen	2
intracellular protein transport	1
protein localization to nucleus	1
establishment of protein localization to organelle	1
protein transport	1
intracellular transport	1
transport	1
establishment of protein localization	1
nucleic acid binding	1
signal sequence receptor activity	1
GTPase binding	1
nucleocytoplasmic carrier activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
extracellular vesicle	1
nucleus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

2562 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TNPO1	HNRNPA1	P09651	995
TNPO1	TNPO3	Q9Y5L0	955
TNPO1	PHGDH	O43175	913
TNPO1	FUS	P35637	867
TNPO1	KIF17	Q9P2E2	822
TNPO1	RGPD5	Q99666	814
TNPO1	IPO7	O95373	800
TNPO1	CSE1L	P55060	794
TNPO1	NUP153	P49790	794
TNPO1	FOXO4	P98177	779
TNPO1	IPO9	Q96P70	778
TNPO1	RANBP2	P49792	763
TNPO1	NUP62	P37198	747
TNPO1	IPO8	O15397	745
TNPO1	XPO1	O14980	742
TNPO1	RAN	P17080	742

IntAct

172 interactions, top by confidence:

A	B	Type	Score
NUP153	KPNB1	psi-mi:“MI:0914”(association)	0.820
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
TNPO1	HNRNPM	psi-mi:“MI:0407”(direct interaction)	0.620
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
LRRK2	PSMD11	psi-mi:“MI:0914”(association)	0.600
RAN	TNPO1	psi-mi:“MI:0407”(direct interaction)	0.590
FUS	TNPO1	psi-mi:“MI:0407”(direct interaction)	0.590
TNPO1		psi-mi:“MI:0407”(direct interaction)	0.560
TNPO1	HNRNPA1	psi-mi:“MI:0407”(direct interaction)	0.560
TNPO1	CIRBP	psi-mi:“MI:0407”(direct interaction)	0.560
CIRBP	TNPO1	psi-mi:“MI:0407”(direct interaction)	0.560
NXF1	TNPO1	psi-mi:“MI:0407”(direct interaction)	0.540
NXF1	TNPO1	psi-mi:“MI:0915”(physical association)	0.540
EGFR	NDUFA4	psi-mi:“MI:0914”(association)	0.530
KPNB1	POM121C	psi-mi:“MI:0914”(association)	0.530
TMA16	TNPO2	psi-mi:“MI:0914”(association)	0.530
EPHA1	EXOC5	psi-mi:“MI:0914”(association)	0.530
FAM174A	BLTP3B	psi-mi:“MI:0914”(association)	0.530
VAMP5	NBAS	psi-mi:“MI:0914”(association)	0.530
CD40	EXOC5	psi-mi:“MI:0914”(association)	0.530

BioGRID (413): TNPO1 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), IPO7 (Co-fractionation), IPO8 (Co-fractionation), IPO9 (Co-fractionation), RAN (Co-fractionation), RANBP6 (Co-fractionation), TNPO1 (Co-fractionation), TNPO1 (Co-fractionation), TNPO1 (Co-fractionation)

ESM2 similar proteins: A0JN27, C9WPN6, F1LTR1, F1QGW6, O14787, O14980, O15294, P17427, P18484, P20461, P41091, P52296, P52297, P56558, P61201, P61202, P61203, P70168, P81436, P81795, Q13888, Q14974, Q27HV0, Q28D01, Q2KHU8, Q2TBV5, Q2VIR3, Q3SYU7, Q5F398, Q5HZM6, Q5R797, Q5RIC0, Q5SP67, Q5ZHS1, Q5ZMS3, Q6IQT4, Q6IR75, Q6NVL5, Q6P1K8, Q6P5F9

Diamond homologs: B8ARW2, B9FDR3, O14089, O14787, Q3SYU7, Q55CQ7, Q8BFY9, Q8H0U4, Q92973, Q99LG2, P38217, P52296, P70168

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
TNPO1	“up-regulates activity”	PER1	relocalization
RANBP2	“up-regulates activity”	TNPO1	binding
TNPO1	“up-regulates activity”	HNRNPA1	relocalization
TNPO1	“up-regulates activity”	NUP153	relocalization
TNPO1	“up-regulates activity”	FUS	relocalization

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 178 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
GRB2 events in EGFR signaling	5	34.6×	4e-05
SHC1 events in EGFR signaling	5	32.4×	4e-05
Constitutive Signaling by EGFRvIII	5	32.4×	4e-05
Signaling by ERBB2 ECD mutants	5	30.5×	5e-05
GRB2 events in ERBB2 signaling	5	28.8×	6e-05
Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants	5	25.9×	7e-05
SHC1 events in ERBB2 signaling	5	21.6×	1e-04
Signaling by ERBB2 TMD/JMD mutants	5	21.6×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
RNA export from nucleus	5	33.2×	2e-04
NLS-bearing protein import into nucleus	5	28.5×	3e-04
protein import into nucleus	12	12.3×	3e-07
Ras protein signal transduction	6	8.8×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	7
Uncertain significance	116
Likely benign	18
Benign	25

Top pathogenic / likely-pathogenic (22)

Variant ID	HGVS	Classification
1069403	NM_012064.4(MIP):c.606+1G>C	Pathogenic
14354	NM_012064.4(MIP):c.413C>G (p.Thr138Arg)	Pathogenic
14355	NM_012064.4(MIP):c.401A>G (p.Glu134Gly)	Pathogenic
1806189	NM_012064.4(MIP):c.616_632del (p.Val206fs)	Pathogenic
217342	NM_012064.4(MIP):c.97C>T (p.Arg33Cys)	Pathogenic
217345	NM_012064.4(MIP):c.597_598insGGGAACATTCCACT (p.Asn200fs)	Pathogenic
252956	NM_012064.4(MIP):c.631G>T (p.Gly211Ter)	Pathogenic
2629509	NM_012064.4(MIP):c.605G>A (p.Trp202Ter)	Pathogenic
2722298	NM_012064.4(MIP):c.606+1G>T	Pathogenic
377392	NM_012064.4(MIP):c.508dup (p.Leu170fs)	Pathogenic
432015	NM_012064.4(MIP):c.698G>A (p.Arg233Lys)	Pathogenic
4727827	NM_012064.4(MIP):c.162dup (p.Leu55fs)	Pathogenic
4734471	NM_012064.4(MIP):c.530_531del (p.Tyr177fs)	Pathogenic
474241	NM_012064.4(MIP):c.623del (p.Pro208fs)	Pathogenic
992878	NM_012064.4(MIP):c.615G>A (p.Trp205Ter)	Pathogenic
1176948	NM_012064.4(MIP):c.698_699del (p.Arg233fs)	Likely pathogenic
1703071	NM_012064.4(MIP):c.559del (p.Arg187fs)	Likely pathogenic
3061915	NM_012064.4(MIP):c.493_494insT (p.Gly165fs)	Likely pathogenic
3345576	NM_012064.4(MIP):c.494G>A (p.Gly165Asp)	Likely pathogenic
391974	NM_012064.4(MIP):c.401A>C (p.Glu134Ala)	Likely pathogenic
392878	NM_012064.4(MIP):c.526-2A>C	Likely pathogenic
944316	NM_012064.4(MIP):c.525+1G>A	Likely pathogenic

SpliceAI

4057 predictions. Top by Δscore:

Variant	Effect	Δscore
5:72855768:TTACA:T	acceptor_loss	1.0000
5:72855769:TACA:T	acceptor_loss	1.0000
5:72855770:ACAG:A	acceptor_loss	1.0000
5:72855771:CA:C	acceptor_loss	1.0000
5:72855772:A:AC	acceptor_loss	1.0000
5:72855772:A:AG	acceptor_gain	1.0000
5:72855772:AGAT:A	acceptor_gain	1.0000
5:72855773:G:GT	acceptor_gain	1.0000
5:72855773:GA:G	acceptor_gain	1.0000
5:72855773:GAT:G	acceptor_gain	1.0000
5:72855773:GATG:G	acceptor_gain	1.0000
5:72855773:GATGA:G	acceptor_gain	1.0000
5:72855920:GTTG:G	donor_gain	1.0000
5:72855922:TGG:T	donor_loss	1.0000
5:72855924:G:GG	donor_gain	1.0000
5:72855924:GT:G	donor_loss	1.0000
5:72855925:TAA:T	donor_loss	1.0000
5:72860503:T:G	acceptor_gain	1.0000
5:72865590:TTACA:T	acceptor_loss	1.0000
5:72865591:TACAG:T	acceptor_loss	1.0000
5:72865593:CAGG:C	acceptor_loss	1.0000
5:72865594:A:AG	acceptor_gain	1.0000
5:72865594:A:T	acceptor_loss	1.0000
5:72865594:AG:A	acceptor_gain	1.0000
5:72865595:G:GG	acceptor_gain	1.0000
5:72865595:GG:G	acceptor_gain	1.0000
5:72865595:GGGA:G	acceptor_gain	1.0000
5:72865725:ATAAG:A	donor_loss	1.0000
5:72865726:TAAG:T	donor_loss	1.0000
5:72865727:AAGG:A	donor_loss	1.0000

AlphaMissense

5990 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:72848446:T:C	L26P	1.000
5:72848449:T:C	L27S	1.000
5:72851248:T:C	L45P	1.000
5:72851257:T:C	L48P	1.000
5:72851274:T:C	F54L	1.000
5:72851276:T:A	F54L	1.000
5:72851276:T:G	F54L	1.000
5:72851287:T:C	L58S	1.000
5:72851287:T:G	L58W	1.000
5:72851296:T:A	V61D	1.000
5:72851299:T:C	L62P	1.000
5:72855785:A:G	R73G	1.000
5:72855786:G:C	R73T	1.000
5:72855786:G:T	R73I	1.000
5:72855787:A:C	R73S	1.000
5:72855787:A:T	R73S	1.000
5:72855794:A:C	S76R	1.000
5:72855796:T:A	S76R	1.000
5:72855796:T:G	S76R	1.000
5:72855797:G:C	G77R	1.000
5:72855798:G:A	G77D	1.000
5:72855798:G:T	G77V	1.000
5:72855801:T:A	L78H	1.000
5:72855801:T:C	L78P	1.000
5:72855807:T:G	L80W	1.000
5:72855809:A:G	K81E	1.000
5:72855810:A:C	K81T	1.000
5:72855810:A:T	K81M	1.000
5:72855811:G:C	K81N	1.000
5:72855811:G:T	K81N	1.000

dbSNP variants (sampled 300 via entrez): RS1000015732 (5:72853444 A>C), RS1000025311 (5:72816723 C>T), RS1000026623 (5:72895834 T>A), RS1000063573 (5:72876601 A>C), RS1000088832 (5:72853188 C>G,T), RS1000092416 (5:72816964 A>G), RS1000100922 (5:72891324 G>C), RS1000150455 (5:72815059 C>A,T), RS1000157424 (5:72898034 A>G), RS1000185856 (5:72823330 A>G), RS1000211668 (5:72823559 T>C), RS1000228275 (5:72858749 A>G), RS1000251709 (5:72856112 A>G,T), RS1000321923 (5:72847916 A>G), RS1000331018 (5:72908168 A>G)

Disease associations

OMIM: gene MIM:602901 | disease phenotypes: MIM:615274, MIM:221900

GenCC curated gene-disease

Disease	Classification	Inheritance
cataract 15 multiple types	Definitive	Autosomal dominant
early-onset lamellar cataract	Supportive	Autosomal dominant
early-onset sutural cataract	Supportive	Autosomal dominant
cerulean cataract	Supportive	Autosomal dominant
early-onset nuclear cataract	Supportive	Autosomal dominant
early-onset posterior polar cataract	Supportive	Autosomal dominant
total early-onset cataract	Supportive	Autosomal dominant
Tourette syndrome	No Known Disease Relationship	Unknown

Mondo (11): cataract 15 multiple types (MONDO:0014110), persistent hyperplastic primary vitreous (MONDO:0019631), pathologic nystagmus (MONDO:0004843), microphthalmia (MONDO:0021129), Tourette syndrome (MONDO:0007661), early-onset lamellar cataract (MONDO:0018611), early-onset sutural cataract (MONDO:0020372), cerulean cataract (MONDO:0020374), early-onset nuclear cataract (MONDO:0020376), early-onset posterior polar cataract (MONDO:0020378), total early-onset cataract (MONDO:0021548)

Orphanet (2): Early onset non-syndromic cataract (Orphanet:91492), Persistent hyperplastic primary vitreous (Orphanet:91495)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000568	Microphthalmia

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST002115_16	Axial length	4.000000e-07
GCST004599_100	Mean platelet volume	4.000000e-16
GCST004603_228	Platelet count	9.000000e-10
GCST004605_73	Mean corpuscular hemoglobin concentration	6.000000e-15
GCST005988_5	Serum albumin levels	1.000000e-08
GCST005992_7	Mean corpuscular hemoglobin concentration	5.000000e-09
GCST006804_62	Red cell distribution width	4.000000e-12
GCST007445_42	Factor VIII levels	2.000000e-10
GCST007445_8	Factor VIII levels	5.000000e-10
GCST007446_2	vWF levels	6.000000e-13
GCST007446_41	vWF levels	1.000000e-12
GCST007446_61	vWF levels	3.000000e-12
GCST007446_81	vWF levels	1.000000e-12
GCST007692_81	Chronic obstructive pulmonary disease	3.000000e-08
GCST007932_52	Medication use (thyroid preparations)	2.000000e-08
GCST008839_17	Height	1.000000e-15
GCST012020_368	Serum metabolite levels	5.000000e-16
GCST012020_369	Serum metabolite levels	2.000000e-26
GCST012232_21	Lipoprotein (a) levels	2.000000e-08
GCST90002384_108	Hemoglobin	2.000000e-17
GCST90002390_130	Mean corpuscular hemoglobin	6.000000e-15
GCST90002391_33	Mean corpuscular hemoglobin concentration	3.000000e-28
GCST90002395_670	Mean platelet volume	3.000000e-28
GCST90002400_686	Plateletcrit	3.000000e-20
GCST90002402_767	Platelet count	9.000000e-22
GCST90002402_768	Platelet count	4.000000e-09
GCST90002404_207	Red cell distribution width	1.000000e-42
GCST90013407_57	Liver enzyme levels (gamma-glutamyl transferase)	7.000000e-17

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0004309	platelet count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0009188	Red cell distribution width
EFO:0004630	factor VIII measurement
EFO:0009933	Thyroid preparation use measurement
EFO:0006925	lipoprotein A measurement
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0007985	platelet crit
EFO:0004532	serum gamma-glutamyl transferase measurement

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D008850	Microphthalmos	C11.250.566; C16.131.384.666
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
D054514	Persistent Hyperplastic Primary Vitreous	C11.250.616; C16.131.384.725
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
C563333	Cataract, Age-Related Nuclear (supp.)
C537955	Cerulean cataract (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725070 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.33	Kd	463.8	nM	CHEMBL5653589
6.33	ED50	463.8	nM	CHEMBL5653589
5.42	Kd	3814	nM	CHEMBL3752910
5.42	ED50	3814	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 10 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149628: Binding affinity to human TNPO1 incubated for 45 mins by Kinobead based pull down assay	kd	0.4638	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149628: Binding affinity to human TNPO1 incubated for 45 mins by Kinobead based pull down assay	kd	3.8136	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, affects expression, decreases expression	3
methylmercuric chloride	increases expression, decreases expression	2
bisphenol A	decreases expression, increases expression	2
sodium arsenite	increases abundance, increases expression	2
cadmium sulfate	increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Calcitriol	increases activity, decreases activity, decreases expression, affects binding, increases reaction	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Tretinoin	decreases expression, affects expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
uranyl acetate	affects expression	1
arsenite	affects binding, decreases reaction	1
afimoxifene	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
aflatoxin B2	decreases methylation	1
1-nitropyrene	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
manumycin	decreases expression, decreases reaction	1
tamibarotene	decreases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652670	Binding	Binding affinity to human TNPO1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TT18	HAP1 TNPO1 (-) 1	Cancer cell line	Male
CVCL_TT19	HAP1 TNPO1 (-) 2	Cancer cell line	Male
CVCL_TT20	HAP1 TNPO1 (-) 3	Cancer cell line	Male
CVCL_XU62	HAP1 TNPO1 (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

189 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