ITPKB

Summary

ITPKB (inositol-trisphosphate 3-kinase B, HGNC:6179) is a protein-coding gene on chromosome 1q42.12, encoding Inositol-trisphosphate 3-kinase B (P27987). Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis.

The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity.

Source: NCBI Gene 3707 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ITPKB deficiency (Limited, ClinGen) — +2 more curated relationships
• GWAS associations: 13
• Clinical variants (ClinVar): 159 total
• Expression (HPA): Tissue enhanced — highest in area postrema, posterior thalamic nucleus, globus pallidus, externus
• GTEx eGene: eQTL in 15 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.34 (highly constrained)
• MANE Select transcript: NM_002221
• Notable: 159 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6179
Approved symbol	ITPKB
Name	inositol-trisphosphate 3-kinase B
Location	1q42.12
Locus type	gene with protein product
Status	Approved
Aliases	IP3KB, IP3-3KB
Ensembl gene	ENSG00000143772
Ensembl biotype	protein_coding
OMIM	147522
Entrez	3707

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

MANE Select: ENST00000429204

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 5: 1

ENST00000429204, ENST00000272117, ENST00000366784, ENST00000926664, ENST00001112273, ENST00001112274, ENST00001145801

RefSeq mRNA: 2 — MANE Select: NM_002221 NM_001388404, NM_002221

CCDS: CCDS1555, CCDS91167

Canonical transcript exons

ENST00000429204 — 8 exons

Exon	Start	End
ENSE00000961885	226648672	226648771
ENSE00000961886	226647167	226647380
ENSE00000961887	226641921	226642125
ENSE00000961888	226639557	226639658
ENSE00000961889	226637679	226637750
ENSE00001145367	226631690	226634886
ENSE00001442611	226735527	226737663
ENSE00001658024	226739041	226739282

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 99.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.3494 / max 846.7999, expressed in 1678 samples.

Highest expression (Bgee): lateral globus pallidus, substantia nigra pars reticulata, globus pallidus, dorsal motor nucleus of vagus nerve, medial globus pallidus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ITPKB is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 15 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

18 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Whole Blood	eqtl	2.1e-07	-0.10	1:226739756:G:A
Muscle Skeletal	sqtl	2.4e-05	+0.75	1:226044737:C:T
Skin Sun Exposed Lower leg	eqtl	6.1e-05	-0.21	1:226632551:C:G
Skin Not Sun Exposed Suprapubic	eqtl	1.4e-04	-0.21	1:226638745:G:A
Colon Sigmoid	eqtl	1.9e-03	-0.22	1:226667855:C:T
Nerve Tibial	eqtl	3.9e-03	+0.11	1:226658690:C:A
Lung	eqtl	4.3e-03	-0.13	1:226744910:A:G
Artery Aorta	eqtl	6.4e-03	+0.17	1:226787569:A:G
Adrenal Gland	eqtl	8.3e-03	-1.21	1:226788031:A:C
Brain Nucleus accumbens basal ganglia	eqtl	1.4e-02	-0.45	1:227738515:C:T
Artery Tibial	eqtl	1.6e-02	+0.30	1:227430547:G:A
Brain Frontal Cortex BA9	eqtl	2.6e-02	+0.35	1:227702338:C:T
Cells Cultured fibroblasts	eqtl	3.1e-02	-0.39	1:226890808:T:G
Muscle Skeletal	eqtl	3.2e-02	+0.23	1:227301521:A:G
Pancreas	sqtl	3.6e-02	-1.66	1:227518345:G:C
Heart Left Ventricle	eqtl	3.7e-02	-0.12	1:225743354:G:A
Esophagus Mucosa	sqtl	3.9e-02	+1.09	1:226538365:G:A
Stomach	eqtl	4.4e-02	-0.14	1:226695585:G:A

FANTOM5 promoters

8 alternative TSS:

Promoter ID	TPM avg	Samples expressed
17781	29.2221	1615
17782	3.2281	1209
17777	0.2833	112
17778	0.2500	73
17780	0.2187	107
17775	0.0538	34
17779	0.0521	34
17776	0.0413	23

Top tissues by expression

showing 100 of 291 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lateral globus pallidus	UBERON:0002476	99.09	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.06	gold quality
globus pallidus	UBERON:0001875	97.70	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.60	gold quality
medial globus pallidus	UBERON:0002477	97.42	gold quality
inferior olivary complex	UBERON:0002127	97.38	gold quality
substantia nigra pars compacta	UBERON:0001965	97.34	gold quality
subthalamic nucleus	UBERON:0001906	97.24	gold quality
ventral tegmental area	UBERON:0002691	97.07	gold quality
medulla oblongata	UBERON:0001896	97.01	gold quality
superior vestibular nucleus	UBERON:0007227	96.95	gold quality
middle frontal gyrus	UBERON:0002702	96.84	gold quality
inferior vagus X ganglion	UBERON:0005363	96.78	gold quality
midbrain	UBERON:0001891	96.51	gold quality
substantia nigra	UBERON:0002038	96.48	gold quality
dorsal plus ventral thalamus	UBERON:0001897	96.29	gold quality
lateral nuclear group of thalamus	UBERON:0002736	95.73	gold quality
cranial nerve II	UBERON:0000941	95.71	gold quality
spinal cord	UBERON:0002240	95.17	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.13	gold quality
amygdala	UBERON:0001876	94.90	gold quality
pons	UBERON:0000988	94.49	gold quality
putamen	UBERON:0001874	94.30	gold quality
hypothalamus	UBERON:0001898	94.27	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.60	gold quality
caudate nucleus	UBERON:0001873	93.59	gold quality
lower esophagus	UBERON:0013473	93.56	gold quality
CA1 field of hippocampus	UBERON:0003881	93.46	gold quality
thymus	UBERON:0002370	93.21	gold quality
temporal lobe	UBERON:0001871	92.98	gold quality
nucleus accumbens	UBERON:0001882	92.98	gold quality
sural nerve	UBERON:0015488	92.88	gold quality
Ammon’s horn	UBERON:0001954	92.67	gold quality
body of uterus	UBERON:0009853	92.63	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.18	gold quality
corpus callosum	UBERON:0002336	92.01	gold quality
muscle layer of sigmoid colon	UBERON:0035805	91.53	gold quality
olfactory bulb	UBERON:0002264	91.51	gold quality
myometrium	UBERON:0001296	91.47	gold quality
postcentral gyrus	UBERON:0002581	91.44	gold quality
parietal lobe	UBERON:0001872	91.20	gold quality
left uterine tube	UBERON:0001303	91.11	gold quality
paraflocculus	UBERON:0005351	91.08	gold quality
entorhinal cortex	UBERON:0002728	91.04	gold quality
right frontal lobe	UBERON:0002810	90.71	gold quality
Brodmann (1909) area 9	UBERON:0013540	90.16	gold quality
telencephalon	UBERON:0001893	90.11	gold quality
mucosa of stomach	UBERON:0001199	90.09	gold quality
trigeminal ganglion	UBERON:0001675	90.00	gold quality
cingulate cortex	UBERON:0003027	89.95	gold quality
smooth muscle tissue	UBERON:0001135	89.94	gold quality
apex of heart	UBERON:0002098	89.94	gold quality
anterior cingulate cortex	UBERON:0009835	89.90	gold quality
pigmented layer of retina	UBERON:0001782	89.79	gold quality
retina	UBERON:0000966	89.77	gold quality
blood	UBERON:0000178	89.69	gold quality
granulocyte	CL:0000094	89.65	gold quality
lymph node	UBERON:0000029	88.94	gold quality
endocervix	UBERON:0000458	88.90	gold quality
forebrain	UBERON:0001890	88.87	gold quality
central nervous system	UBERON:0001017	88.68	gold quality
colonic epithelium	UBERON:0000397	88.61	gold quality
parotid gland	UBERON:0001831	88.48	gold quality
brain	UBERON:0000955	88.47	gold quality
corpus epididymis	UBERON:0004359	88.43	gold quality
cerebral cortex	UBERON:0000956	88.25	gold quality
choroid plexus epithelium	UBERON:0003911	88.15	gold quality
lower lobe of lung	UBERON:0008949	88.07	gold quality
frontal cortex	UBERON:0001870	88.01	gold quality
frontal lobe	UBERON:0016525	88.00	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.85	gold quality
neocortex	UBERON:0001950	87.74	gold quality
superior frontal gyrus	UBERON:0002661	87.66	gold quality
ectocervix	UBERON:0012249	87.41	gold quality
peripheral nervous system	UBERON:0000010	87.03	gold quality
tibial nerve	UBERON:0001323	87.03	gold quality
cauda epididymis	UBERON:0004360	86.92	gold quality
prefrontal cortex	UBERON:0000451	86.49	gold quality
esophagus	UBERON:0001043	86.41	gold quality
sigmoid colon	UBERON:0001159	86.28	gold quality
right lung	UBERON:0002167	86.14	gold quality
urinary bladder	UBERON:0001255	86.12	gold quality
adult organism	UBERON:0007023	86.00	gold quality
Brodmann (1909) area 46	UBERON:0006483	85.95	gold quality
fundus of stomach	UBERON:0001160	85.94	gold quality
adipose tissue of abdominal region	UBERON:0007808	85.83	gold quality
omental fat pad	UBERON:0010414	85.83	gold quality
peritoneum	UBERON:0002358	85.81	gold quality
occipital lobe	UBERON:0002021	85.76	gold quality
spleen	UBERON:0002106	85.59	gold quality
decidua	UBERON:0002450	85.55	gold quality
Brodmann (1909) area 10	UBERON:0013541	85.52	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.29	gold quality
vermiform appendix	UBERON:0001154	85.10	gold quality
upper arm skin	UBERON:0004263	84.97	gold quality
adipose tissue	UBERON:0001013	84.92	gold quality
skin of leg	UBERON:0001511	84.86	gold quality
dorsal root ganglion	UBERON:0000044	84.81	gold quality
prostate gland	UBERON:0002367	84.72	gold quality
connective tissue	UBERON:0002384	84.66	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	256.42
E-CURD-119	yes	49.78
E-HCAD-35	yes	23.35
E-HCAD-25	yes	21.66
E-ANND-3	yes	8.30
E-MTAB-6058	no	14.64

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	197.2
Hippocampus	tissue	164.0	medium
Locus coeruleus	tissue	158.3
Nucleus accumbens	tissue	136.5
Postcentral gyrus	tissue	109.7
Spinal cord	tissue	67.2
Periaqueductal gray	tissue	60.3
Midbrain	tissue	59.5
Medulla oblongata	tissue	59.3
Substantia nigra	tissue	51.0
Pons	tissue	49.6
Thalamus	tissue	48.3
Superior colliculi	tissue	45.4
Hypothalamus	tissue	41.1
Hippocampal formation	tissue	31.8
Corpus callosum	tissue	29.4
Thymus	tissue	28.7
Amygdala	tissue	28.2
Smooth muscle	tissue	27.8	medium
Endometrium 1	tissue	27.2	not detected
Salivary gland	tissue	26.4	not detected
Septum	tissue	26.2
Adipose tissue	tissue	25.6	low
Lymph node	tissue	25.5	not detected
Ventral forebrain	tissue	22.2
Cerebellum	tissue	21.4	not detected
Basal ganglia	tissue	21.1	medium
Spleen	tissue	20.4	not detected
Seminal vesicle	tissue	20.2	not detected
Cerebral cortex	tissue	20.1	medium
Motor cortex	tissue	20.1
Temporal cortex	tissue	19.6
Insular cortex	tissue	19.4
Putamen	tissue	19.1
Entorhinal cortex	tissue	18.7
Prefrontal cortex	tissue	18.0
Tonsil	tissue	18.0	not detected
Retrosplenial cortex	tissue	18.0
Retrosplenial and cingulate cortex	tissue	17.6
Bone marrow	tissue	17.1
Somatosensory cortex	tissue	17.1
Occipital cortex	tissue	16.2
Epididymis	tissue	15.5	not detected
Olfactory bulb	tissue	15.5
Fallopian tube	tissue	14.5	not detected
Placenta	tissue	13.9	not detected
Appendix	tissue	13.7	not detected
Vagina	tissue	13.5	not detected
Lung	tissue	13.5	medium
Cervix	tissue	13.4	not detected
Prostate	tissue	12.6	not detected
Esophagus	tissue	12.5	not detected
Urinary bladder	tissue	12.0	not detected
Skin 1	tissue	10.9	not detected
Skeletal muscle	tissue	10.7	not detected
Tongue	tissue	10.7
Gallbladder	tissue	9.0
Kidney	tissue	8.9	not detected
Caudate putamen	tissue	8.8
Frontal cortex	tissue	8.7

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Area postrema (378.8), Posterior thalamic nucleus (372.9), Globus pallidus, externus (356.0), Inferior olive (330.4), Nucleus rhomboideus (324.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ITPKB by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 138 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.34, missense Z -0.124 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000429204 splits into 2 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
1:226,634,674–226,735,528	248 / 396.7	0.63	no
1:226,735,529–226,737,458	992 / 853.8	1.16	no

Literature-anchored findings (GeneRIF, showing 15)

• results highlight the potential role of the three isoforms of InsP3 3-kinase as direct InsP3 metabolizing enzymes and direct regulators of Ca2+ responses to extracellular signals (PMID:12747803)
• We aim to summarize the existing information about functionally uncoupled IP(3)R and RyR channels, and to discuss the concept that those channels can participate in Ca(2+)-leak pathways. (PMID:16354157)
• In each of the three isoforms a nuclear export signal has evolved in the catalytic domain either de novo (IP3K-A) or as a substitute for an earlier evolved corresponding N-terminal signal (IP3K-B and IP3K-C). (PMID:16740130)
• IP3KB not only regulates cytoplasmic Ca(2+) signals by phosphorylation of subplasmalemmal and cytoplasmic Ins(1,4,5)P(3) but may also be involved in modulating nuclear Ca(2+) signals generated from these nuclear envelope invaginations. (PMID:21148483)
• a specific increase in inositol 1,4,5-trisphosphate 3-kinase A and B (ITPKA and ITPKB) was observed upon hESCs spontaneous differentiation. (PMID:22446005)
• ITPKB is increased in Alzheimer’s brain three-fold in the cerebral cortex of most patients with Alzheimer’s disease compared with control subjects and accumulates in dystrophic neurites associated with amyloid plaques. (PMID:24401760)
• The authors confirm downregulation of miR-132 and upregulation of ITPKB in three distinct human Alzheimer’s disease patient cohorts. (PMID:27485122)
• miR-140-5p regulates this context-specific autophagy through its target, inositol 1,4,5-trisphosphate kinase 2 (IP3k2). Therefore, the results of the present study demonstrated that miR-140-5p mediated drug-resistance in osteosarcoma cells by inducing autophagy. (PMID:27582507)
• ITPKB does not affect the cellular actin structure and does not suppress dissemination of human lung cancer cells in mice. (PMID:29871874)
• study also suggests a distinctive signaling function of IP4 that regulates NOX4. Furthermore, pharmaceutical inhibition of ITPKB displayed synergistic attenuation of tumor growth with cisplatin, suggesting ITPKB as a promising synthetic lethal target for cancer therapeutic intervention to overcome cisplatin resistance. (PMID:31081803)
• Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency. (PMID:31987846)
• Association of ITPKB, IL1R2 and COQ7 with Parkinson’s disease in Taiwan. (PMID:34244037)
• Increased Levels of the Parkinson’s Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of alpha-Synuclein, Independent of Mutation Status. (PMID:36768321)
• Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. (PMID:37108169)
• Suppression of ITPKB degradation by Trim25 confers TMZ resistance in glioblastoma through ROS homeostasis. (PMID:38438346)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	itpkb	ENSDARG00000010059
mus_musculus	Itpkb	ENSMUSG00000038855
rattus_norvegicus	Itpkb	ENSRNOG00000002969
drosophila_melanogaster	IP3K1	FBGN0032147
drosophila_melanogaster	Ip6k	FBGN0034644
caenorhabditis_elegans	lfe-2	WBGENE00002979
caenorhabditis_elegans	F30A10.3	WBGENE00009262

Paralogs (6): IP6K2 (ENSG00000068745), ITPKC (ENSG00000086544), ITPKA (ENSG00000137825), IPMK (ENSG00000151151), IP6K3 (ENSG00000161896), IP6K1 (ENSG00000176095)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:109235) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 21 distinct phenotype terms.

Mouse phenotype (MP)	Records
arrested T cell differentiation	2
sparse hair	1
absent CD8-positive, alpha-beta T cells	1
distended abdomen	1
decreased locomotor activity	1
postnatal growth retardation	1
decreased IgG level	1
abnormal thymus involution	1
premature death	1
abnormal T cell physiology	1
absent CD4-positive, alpha-beta T cells	1
abnormal thymocyte activation	1
increased susceptibility to parasitic infection	1
diarrhea	1
increased double-positive T cell number	1
absent T cells	1
decreased IgG1 level	1
decreased IgG2a level	1
decreased IgG2b level	1
distended stomach	1
absent thymus medulla	1

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
ITPKB-IT1	ncRNA	100506443
STUM	protein-coding	375057
PSEN2	protein-coding	5664

Protein

Protein identifiers

Inositol-trisphosphate 3-kinase B — P27987 (reviewed: P27987)

Alternative names: Inositol 1,4,5-trisphosphate 3-kinase B

All UniProt accessions (1): P27987

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis.

Subunit / interactions. Interacts with DMTN.

Subcellular location. Cytoplasm. Cytoskeleton. Endoplasmic reticulum.

Activity regulation. IP3K is activated by calcium and calmodulin. Form B is much more sensitive to calcium/calmodulin than form A.

Similarity. Belongs to the inositol phosphokinase (IPK) family.

Isoforms (2)

UniProt ID	Names	Canonical?
P27987-1	1	yes
P27987-2	2

RefSeq proteins (2): NP_001375333, NP_002212* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005522	IPK	Family
IPR038286	IPK_sf	Homologous_superfamily

Pfam: PF03770

Enzyme classification (BRENDA)

• EC 2.7.1.127 — inositol-trisphosphate 3-kinase (BRENDA: 14 organisms, 87 substrates, 104 inhibitors, 42 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
1D-MYO-INOSITOL 1,4,5-TRISPHOSPHATE	0.0002–0.011	21
ATP	0.033–2.5	13
1D-MYO-INOSITOL 2,4,5-TRISPHOSPHATE	0.0015–0.005	2
INSP3	0.0002–0.0017	2

Catalyzed reactions (Rhea)

• 1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + H(+) (RHEA:11020)

UniProt features (36 total): binding site 10, region of interest 6, compositionally biased region 5, modified residue 5, sequence conflict 4, sequence variant 3, chain 1, splice variant 1, mutagenesis site 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P27987-F1	56.58	0.25

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Transferases, Metabolic proteins, Predicted intracellular proteins, Cancer-related genes, Mutated cancer genes

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH enhanced · IF approved

Functional residue map

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

Ligand- & substrate-binding residues (10)

Position	Role
679	ATP
690	ATP
730–732	ATP
743	ATP
745	substrate
766	substrate
793–800	substrate
817	ATP
897	ATP
900	substrate

Post-translational modifications (5)

Type	Positions
Phosphoserine	43, 49, 71, 204, 269

Mutagenesis-validated functional residues (1)

Position	Phenotype
897	loss of kinase activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 3; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

3 pathways:

ID	Pathway	Evidence
R-HSA-1855204	Synthesis of IP3 and IP4 in the cytosol	curated
R-HSA-1483249	Inositol phosphate metabolism	—
R-HSA-1430728	Metabolism	—

MSigDB gene sets: 359 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_CELL_ACTIVATION, RNGTGGGC_UNKNOWN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, HNF3ALPHA_Q6, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_REGULATION_OF_LEUKOCYTE_APOPTOTIC_PROCESS, GOBP_THYMIC_T_CELL_SELECTION, CMYB_01, GOBP_INOSITOL_PHOSPHATE_METABOLIC_PROCESS, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOBP_POLYOL_METABOLIC_PROCESS

GO Biological Process (5): signal transduction (GO:0007165), inositol trisphosphate metabolic process (GO:0032957), inositol phosphate biosynthetic process (GO:0032958), phosphatidylinositol phosphate biosynthetic process (GO:0046854), cellular response to calcium ion (GO:0071277)

GO Molecular Function (8): inositol hexakisphosphate kinase activity (GO:0000828), calmodulin binding (GO:0005516), ATP binding (GO:0005524), inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), cytoskeleton (GO:0005856), membrane (GO:0016020)

Reactome top-level categories

2 top-level categories:

Category	Pathways
Inositol phosphate metabolism	1
Metabolism	1

GO top-level categories

29 GO namespaces:

Category	Terms
cellular anatomical structure	3
inositol phosphate metabolic process	2
intracellular membrane-bounded organelle	2
cytoplasm	2
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
polyol biosynthetic process	1
organophosphate biosynthetic process	1
glycerophospholipid biosynthetic process	1
response to calcium ion	1
cellular response to metal ion	1
phosphotransferase activity, phosphate group as acceptor	1
inositol phosphate kinase activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
anion binding	1
inositol trisphosphate kinase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membraneless organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
cellular response to calcium ion	BP	direct assay
inositol trisphosphate metabolic process	BP	direct assay
phosphatidylinositol phosphate biosynthetic process	BP	direct assay
cytoplasm	CC	direct assay
cytoskeleton	CC	direct assay
endoplasmic reticulum	CC	direct assay
inositol-1,4,5-trisphosphate 3-kinase activity	MF	direct assay

Protein interactions and networks

STRING

showing 16 of 710 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITPKB	IP6K1	Q92551	771
ITPKB	IP6K3	Q96PC2	743
ITPKB	IP6K2	Q9UHH9	663
ITPKB	AKT1	P31749	536
ITPKB	PLCG1	P19174	513
ITPKB	GNA13	Q14344	493
ITPKB	IPMK	Q8NFU5	490
ITPKB	INPP5A	Q14642	487
ITPKB	LCP2	Q13094	477
ITPKB	ZAP70	P43403	456
ITPKB	MFHAS1	Q9Y4C4	442
ITPKB	CALM1	P02593	429
ITPKB	PIK3C3	Q8NEB9	428
ITPKB	CALML6	Q8TD86	416
ITPKB	CALML5	Q9NZT1	416
ITPKB	CALML4	Q96GE6	416

IntAct

Human interaction partners of ITPKB in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

18 partners by confidence:

Partner	Interaction type	MIscore	Records
GOLGA2	physical association	0.670	4
BRAF	physical association	0.600	3
CTDSP1	physical association	0.560	5
UBQLN2	physical association	0.560	5
CEP70	physical association	0.560	3
IFT88	physical association	0.560	3
KRT34	physical association	0.560	3
PPP3CA	physical association	0.560	3
SCAI	physical association	0.560	3
TRIM54	physical association	0.560	3
PSME3	physical association	0.370	1
SMAD4	proximity	0.270	4
SPOP	proximity	0.270	4
AKT1	proximity	0.270	1
EGFR	proximity	0.270	1
PTEN	proximity	0.270	1
PTPN11	proximity	0.270	1
TP53	proximity	0.270	1

BioGRID (29 interactions; top human partners by supporting records): GOLGA2 (Two-hybrid; 2 records), ADNP2 (Affinity Capture-MS), AKT1 (Biochemical Activity), CEP70 (Two-hybrid), CTDSP1 (Two-hybrid), DDX39A (Affinity Capture-RNA), ELAVL1 (Affinity Capture-RNA), ESF1 (Affinity Capture-MS), ESR2 (Affinity Capture-MS), HNRNPL (Affinity Capture-RNA), IFT88 (Two-hybrid), KIAA1429 (Affinity Capture-RNA), KRT34 (Two-hybrid), NR3C1 (Proximity Label-MS), NUDT21 (Affinity Capture-RNA)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
PRKCA	“down-regulates activity”	ITPKB
PRKACA	“down-regulates activity”	ITPKB	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 18 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.

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of gene expression	5	10.8×	5e-03

Disease & clinical

Genetic variants

Variant evidence for ITPKB: 159 ClinVar records (0 pathogenic / likely pathogenic); 13 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	116
Likely benign	15
Benign	8

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 45 predictions of 1,200):

Position(s)	Effect	Δscore	Sites
1:226634887–226634888	acceptor_loss	1.0000	5
1:226637677–226637678	donor_loss	1.0000	5
1:226637751–226637752	acceptor_loss	1.0000	5
1:226639555–226639556	donor_loss	1.0000	5
1:226639659–226639660	acceptor_loss	1.0000	4
1:226641919–226641920	donor_loss	1.0000	5
1:226647165–226647166	donor_loss	1.0000	5
1:226647381–226647382	acceptor_loss	1.0000	4
1:226648772–226648773	acceptor_loss	1.0000	6
1:226634887	acceptor_loss	0.9900

AlphaMissense

1,823 missense substitutions predicted likely pathogenic (of 6,164 scored), across 377 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M773	9	0.954	0.998
M797	9	0.953	0.998
M729	9	0.920	0.997
M769	9	0.917	0.993
M895	9	0.917	0.998
M742	9	0.879	0.996
M654	9	0.859	0.978
M704	9	0.855	0.969
M746	9	0.836	0.991
D743	8	0.999	1.000
D897	8	0.999	1.000
H676	8	0.993	0.999
F680	8	0.993	1.000
F898	8	0.993	0.999
F883	8	0.988	1.000
H874	8	0.981	0.998
F811	8	0.980	0.999
F871	8	0.980	0.998
D768	8	0.979	0.995
D923	8	0.979	0.997

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Skin Cutaneous Melanoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	7.25e-06
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000237

Disease associations

OMIM: gene MIM:147522 | disease phenotypes:

GenCC curated gene-disease

2 curated gene-disease records:

Disease	Classification	Inheritance	Records
severe combined immunodeficiency	Limited	Autosomal recessive
Tourette syndrome	No Known Disease Relationship	Unknown

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

Disease	Classification	Inheritance
ITPKB deficiency	Limited	AR

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (2 panels, 0 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

2 panels:

Panel	Rating
COVID-19 research	amber
Primary immunodeficiency or monogenic inflammatory bowel disease	amber

Mondo (1): severe combined immunodeficiency (MONDO:0015974)

GWAS associations

13 associations:

Study	Trait	p-value
GCST009325_8	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	1e-15
GCST90002382_77	Eosinophil percentage of white cells	4e-13
GCST010002_7	Refractive error	1e-12
GCST004902_14	Parkinson’s disease	2e-11
GCST012490_422	Femur bone mineral density x serum urate levels interaction	4e-11
GCST010043_118	Asthma	2e-10
GCST010049_4	Parkinson’s disease	8e-10
GCST005038_75	Allergic disease (asthma, hay fever or eczema)	2e-9
GCST010042_29	Asthma	2e-9
GCST008306_4	Dentures	1e-8
GCST008295_13	Number of decayed, missing and filled tooth surfaces or use of dentures	3e-8
GCST010991_15	Parkinson’s disease	6e-8
GCST001521_6	Subcutaneous adipose tissue	6e-6

EFO canonical traits (from GWAS)

3 canonical traits:

EFO ID	Trait name
EFO:0010078	dentures
EFO:0004531	urate measurement
EFO:0007991	eosinophil percentage of leukocytes

MeSH disease descriptors

2 disease descriptors:

Descriptor	Name	Tree numbers
D016511	Severe Combined Immunodeficiency	C16.320.798.750; C16.614.815; C18.452.284.800; C20.673.795.750
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: yes

ChEMBL targets (1): CHEMBL5165 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Inositol 1,4,5-trisphosphate 3-kinases

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
GNF362	Inhibition	8.05	pIC50

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	3
Valproic Acid	affects expression, decreases expression	3
bisphenol A	decreases methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	increases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
trichostatin A	affects cotreatment, increases expression	1
ochratoxin A	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
avobenzone	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Doxorubicin	decreases expression	1
Lead	affects expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Ozone	affects cotreatment, decreases expression, increases abundance	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3721023	Binding	Inhibition of ITPKb in human Jurkat cells assessed as reduction in conversion of IP3 to IP4 using [3H]-myo-inositol incubated for 5 mins by beta-RAM radio-HPLC method	Compounds and compositions as ITPKB inhibitors

Cellosaurus cell lines

4 cell lines: 3 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7ST	Ubigene A-549 ITPKB KO	Cancer cell line	Male
CVCL_D8NK	Ubigene HCT 116 ITPKB KO	Cancer cell line	Male
CVCL_D9HK	Ubigene HEK293 ITPKB KO	Transformed cell line	Female
CVCL_E0FP	Ubigene HeLa ITPKB KO	Cancer cell line	Female

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 278 trials:

NCT	Phase	Status	Title
NCT00152750	Phase 4	UNKNOWN	Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD
NCT00226824	Phase 4	TERMINATED	Safety Study of Galantamine in Tic Disorders
NCT00241176	Phase 4	COMPLETED	Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder
NCT00370838	Phase 4	COMPLETED	Comparison of Keppra and Clonidine in the Treatment of Tics
NCT01018056	Phase 4	COMPLETED	Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
NCT01547000	Phase 4	COMPLETED	Guanfacine in Children With Tic Disorders
NCT03239210	Phase 4	COMPLETED	Effects of Ondansetron in Obsessive-compulsive and Tic Disorders
NCT00004376	Phase 3	COMPLETED	Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
NCT00206323	Phase 3	COMPLETED	A Randomized, Placebo-controlled, Tourette Syndrome Study.
NCT00206336	Phase 3	COMPLETED	An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome.
NCT00478842	Phase 3	COMPLETED	Pallidal Stimulation and Gilles de la Tourette Syndrome
NCT00681863	Phase 3	TERMINATED	Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome
NCT01501695	Phase 3	COMPLETED	Phase III Study of 5LGr to Treat Tic Disorder
NCT03087201	Phase 3	COMPLETED	CANNAbinoids in the Treatment of TICS (CANNA-TICS)
NCT03487783	Phase 3	COMPLETED	Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome
NCT03567291	Phase 3	TERMINATED	Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents
NCT03571256	Phase 3	COMPLETED	A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
NCT06021522	Phase 3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder
NCT00220766	Phase 3	COMPLETED	Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients
NCT01420627	Phase 3	COMPLETED	EZN-2279 in Patients With ADA-SCID
NCT06940570	Phase 3	SUSPENDED	Methadone as an Alternative Treatment for Children Underdoing HSCT
NCT00322101	Phase 3	COMPLETED	Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia
NCT00799461	Phase 3	COMPLETED	Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications
NCT01305200	Phase 3	COMPLETED	Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant
NCT00004393	Phase 2	COMPLETED	Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome
NCT00004652	Phase 2	COMPLETED	Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome
NCT00231985	Phase 2	COMPLETED	Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder
NCT00311909	Phase 2	COMPLETED	Thalamic Deep Brain Stimulation for Tourette Syndrome
NCT00529308	Phase 2	COMPLETED	Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome
NCT00558467	Phase 2	COMPLETED	Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria
NCT01043549	Phase 2	TERMINATED	Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome
NCT01133353	Phase 2	WITHDRAWN	A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome
NCT01475383	Phase 2	WITHDRAWN	Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome
NCT01647269	Phase 2	COMPLETED	A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome
NCT01904773	Phase 2	COMPLETED	Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder
NCT02102698	Phase 2	COMPLETED	Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years
NCT02217007	Phase 2	WITHDRAWN	A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome
NCT02247206	Phase 2	COMPLETED	VoIP Delivered Behavior Therapy for Tourette Syndrome
NCT02581865	Phase 2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome
NCT02619084	Phase 2	COMPLETED	Subthalamic Stimulation in Tourette’s Syndrome
NCT02679079	Phase 2	COMPLETED	Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome
NCT02879578	Phase 2	COMPLETED	Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome
NCT03066193	Phase 2	COMPLETED	Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome
NCT03247244	Phase 2	TERMINATED	Safety and Efficacy of Cannabis in Tourette Syndrome
NCT03325010	Phase 2	COMPLETED	Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03444038	Phase 2	COMPLETED	Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome
NCT03530293	Phase 2	TERMINATED	Safety and Efficacy of NBI-98854 in Pediatric Subjects With Tourette Syndrome
NCT03625453	Phase 2	COMPLETED	Study of ABX-1431 in Adult Patients With Tourette Syndrome or Chronic Motor Tic Disorder
NCT03651726	Phase 2	UNKNOWN	A Study to Examine the Efficacy of a Therapeutic THX-110 for Tourette Syndrome
NCT03732534	Phase 2	TERMINATED	Rollover Study for Continuing NBI-98854 Administration in Pediatric Subjects With Tourette Syndrome
NCT03944447	Phase 2	UNKNOWN	Outcomes Mandate National Integration With Cannabis as Medicine
NCT04007991	Phase 2	COMPLETED	Ecopipam Tablets to Study Tourette’s Syndrome in Children and Adolescents
NCT04354103	Phase 2	TERMINATED	Atomoxetine in Patients With Tourette’s Syndrome
NCT04978428	Phase 2	COMPLETED	Epidiolex in Obsessive Compulsive Disorder and Related Disorders
NCT05126888	Phase 2	NOT_YET_RECRUITING	SCI-110 in the Treatment of Tourette Syndrome
NCT05434546	Phase 2	COMPLETED	A Study to Explore the Effect of Sepranolone in Tourette Syndrome
NCT06081348	Phase 2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06194305	Phase 2	RECRUITING	Multimodal Profiling of Response to Pediatric Comprehensive Behavioral Intervention for Tics
NCT06315751	Phase 2	ACTIVE_NOT_RECRUITING	Efficacy and Safety of Gemlapodect (NOE-105) in Adults and Adolescents With Tourette Syndrome
NCT06678737	Phase 2	RECRUITING	CBIT+TMS R33 Phase