CPEB3
gene geneOn this page
Also known as KIAA0940
Summary
CPEB3 (cytoplasmic polyadenylation element binding protein 3, HGNC:21746) is a protein-coding gene on chromosome 10q23.32, encoding Cytoplasmic polyadenylation element-binding protein 3 (Q8NE35). Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator.
Enables mRNA 3’-UTR binding activity and translation factor activity, RNA binding. Involved in cellular response to amino acid stimulus and regulation of gene expression. Located in cytoplasm; neuron projection; and nucleus. Part of CCR4-NOT complex.
Source: NCBI Gene 22849 — automated summary from GO annotations (Alliance of Genome Resources).
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 103 total
- GTEx eGene: eQTL in 10 tissues, sQTL in 1 (q < 0.05)
- Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types (inferred from mutation patterns)
- Constraint (gnomAD): pLI 0.60 (intermediate), LOEUF 0.58 (moderately constrained)
- MANE Select transcript:
NM_014912 - Notable: 103 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21746 |
| Approved symbol | CPEB3 |
| Name | cytoplasmic polyadenylation element binding protein 3 |
| Location | 10q23.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0940 |
| Ensembl gene | ENSG00000107864 |
| Ensembl biotype | protein_coding |
| OMIM | 610606 |
| Entrez | 22849 |
Gene structure
Transcript identifiers
Ensembl transcripts: 37 — 33 protein_coding, 4 nonsense_mediated_decay
MANE Select: ENST00000265997
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 5: 1
ENST00000265997, ENST00000412050, ENST00000614585, ENST00000903860, ENST00000903863, ENST00000903866, ENST00000903867, ENST00000903868, ENST00000903869, ENST00000903870, ENST00000903871, ENST00000903872, ENST00000903873, ENST00000903874, ENST00000903875, ENST00000903876, ENST00000903877, ENST00000903878, ENST00000903879, ENST00000903880, ENST00000903881, ENST00000903882, ENST00000903883, ENST00000912186, ENST00000912187, ENST00000912188, ENST00000946416, ENST00000946417, ENST00000946418, ENST00000946419, ENST00000946420, ENST00000990058, ENST00000990059, ENST00001052112, ENST00001052113, ENST00001108328, ENST00001142692
RefSeq mRNA: 2 — MANE Select: NM_014912
NM_001178137, NM_014912
CCDS: CCDS31246, CCDS53553
Canonical transcript exons
ENST00000265997 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000713769 | 92111076 | 92111194 |
| ENSE00000713776 | 92144945 | 92145085 |
| ENSE00000713779 | 92180963 | 92181019 |
| ENSE00000810688 | 92081320 | 92081501 |
| ENSE00001162650 | 92046692 | 92052439 |
| ENSE00001162658 | 92239346 | 92240361 |
| ENSE00001252544 | 92192477 | 92192636 |
| ENSE00001374446 | 92290926 | 92291078 |
| ENSE00002487271 | 92091830 | 92091944 |
| ENSE00002490646 | 92143029 | 92143118 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 97.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.1926 / max 375.3515, expressed in 1387 samples.
Highest expression (Bgee): buccal mucosa cell, endothelial cell, Brodmann (1909) area 23, middle temporal gyrus, postcentral gyrus.
Genetic regulation across tissues (GTEx eQTL / sQTL)
CPEB3 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 10 tissues and its splicing (sQTL) in 1 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
11 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Nerve Tibial | eqtl | 2.9e-32 | -0.43 | 10:92234054:C:T |
| Testis | sqtl | 5.0e-07 | +0.52 | 10:92121111:A:C |
| Whole Blood | eqtl | 2.9e-04 | +0.11 | 10:92094442:G:A |
| Spleen | eqtl | 6.5e-03 | +0.20 | 10:91540030:T:C |
| Esophagus Mucosa | eqtl | 1.4e-02 | -0.08 | 10:92123389:GCAAGGAC:G |
| Cells Cultured fibroblasts | eqtl | 1.5e-02 | +0.21 | 10:93208459:T:C |
| Lung | eqtl | 1.9e-02 | +0.13 | 10:93214372:G:T |
| Cells EBV-transformed lymphocytes | eqtl | 2.1e-02 | +0.22 | 10:92291231:C:G |
| Adipose Subcutaneous | eqtl | 3.2e-02 | -0.11 | 10:91637944:G:A |
| Brain Cerebellum | eqtl | 3.3e-02 | +0.15 | 10:92397654:C:G |
| Adrenal Gland | eqtl | 3.7e-02 | -0.51 | 10:92706307:C:T |
FANTOM5 promoters
showing 10 of 12 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 110659 | 2.5064 | 725 |
| 110658 | 1.9655 | 814 |
| 110655 | 1.2703 | 197 |
| 110651 | 1.1656 | 382 |
| 110656 | 0.9158 | 184 |
| 110648 | 0.4596 | 155 |
| 110657 | 0.4262 | 246 |
| 110647 | 0.2457 | 106 |
| 110650 | 0.1216 | 65 |
| 110660 | 0.0702 | 10 |
Top tissues by expression
showing 100 of 284 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.41 | gold quality |
| endothelial cell | CL:0000115 | 96.89 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.72 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.19 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.52 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.08 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 90.06 | gold quality |
| parietal lobe | UBERON:0001872 | 89.77 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.57 | gold quality |
| pons | UBERON:0000988 | 89.42 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 89.06 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 88.28 | gold quality |
| biceps brachii | UBERON:0001507 | 88.06 | gold quality |
| entorhinal cortex | UBERON:0002728 | 87.93 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 87.18 | gold quality |
| occipital lobe | UBERON:0002021 | 87.16 | gold quality |
| vastus lateralis | UBERON:0001379 | 85.54 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 85.25 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 84.99 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 84.36 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.11 | gold quality |
| quadriceps femoris | UBERON:0001377 | 83.35 | gold quality |
| cerebellar vermis | UBERON:0004720 | 83.06 | gold quality |
| sperm | CL:0000019 | 82.98 | gold quality |
| prefrontal cortex | UBERON:0000451 | 82.94 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.68 | gold quality |
| secondary oocyte | CL:0000655 | 82.57 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 82.28 | gold quality |
| muscle organ | UBERON:0001630 | 82.26 | gold quality |
| muscle of leg | UBERON:0001383 | 82.00 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 82.00 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.84 | gold quality |
| frontal cortex | UBERON:0001870 | 81.53 | gold quality |
| neocortex | UBERON:0001950 | 81.28 | gold quality |
| medial globus pallidus | UBERON:0002477 | 81.10 | gold quality |
| cerebral cortex | UBERON:0000956 | 81.02 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 81.00 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 80.91 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 80.65 | gold quality |
| male germ cell | CL:0000015 | 80.21 | gold quality |
| temporal lobe | UBERON:0001871 | 80.13 | gold quality |
| cingulate cortex | UBERON:0003027 | 79.91 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.80 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.62 | gold quality |
| cerebellum | UBERON:0002037 | 79.54 | gold quality |
| cerebellar cortex | UBERON:0002129 | 79.49 | gold quality |
| liver | UBERON:0002107 | 79.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 79.31 | gold quality |
| oocyte | CL:0000023 | 78.84 | gold quality |
| telencephalon | UBERON:0001893 | 78.74 | gold quality |
| right lobe of liver | UBERON:0001114 | 78.71 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 78.64 | gold quality |
| cortical plate | UBERON:0005343 | 78.56 | gold quality |
| muscle tissue | UBERON:0002385 | 78.27 | gold quality |
| Ammon’s horn | UBERON:0001954 | 78.24 | gold quality |
| right testis | UBERON:0004534 | 78.01 | gold quality |
| globus pallidus | UBERON:0001875 | 78.00 | gold quality |
| brain | UBERON:0000955 | 77.94 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 77.91 | gold quality |
| forebrain | UBERON:0001890 | 77.84 | gold quality |
| left testis | UBERON:0004533 | 77.66 | gold quality |
| central nervous system | UBERON:0001017 | 77.63 | gold quality |
| right frontal lobe | UBERON:0002810 | 77.56 | gold quality |
| calcaneal tendon | UBERON:0003701 | 77.30 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 77.13 | gold quality |
| testis | UBERON:0000473 | 76.83 | gold quality |
| monocyte | CL:0000576 | 75.80 | gold quality |
| mononuclear cell | CL:0000842 | 75.56 | gold quality |
| hypothalamus | UBERON:0001898 | 75.35 | gold quality |
| amygdala | UBERON:0001876 | 75.26 | gold quality |
| midbrain | UBERON:0001891 | 75.22 | gold quality |
| leukocyte | CL:0000738 | 75.09 | gold quality |
| substantia nigra | UBERON:0002038 | 74.91 | gold quality |
| ventral tegmental area | UBERON:0002691 | 74.34 | gold quality |
| nucleus accumbens | UBERON:0001882 | 74.28 | gold quality |
| esophagus mucosa | UBERON:0002469 | 73.62 | gold quality |
| caudate nucleus | UBERON:0001873 | 73.56 | gold quality |
| heart left ventricle | UBERON:0002084 | 73.32 | gold quality |
| diaphragm | UBERON:0001103 | 73.18 | silver quality |
| cardiac ventricle | UBERON:0002082 | 73.03 | gold quality |
| islet of Langerhans | UBERON:0000006 | 72.95 | gold quality |
| minor salivary gland | UBERON:0001830 | 72.71 | gold quality |
| esophagus | UBERON:0001043 | 72.64 | gold quality |
| right atrium auricular region | UBERON:0006631 | 72.40 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 72.27 | gold quality |
| medulla oblongata | UBERON:0001896 | 72.24 | gold quality |
| skin of leg | UBERON:0001511 | 71.96 | gold quality |
| heart | UBERON:0000948 | 71.73 | gold quality |
| lower esophagus | UBERON:0013473 | 71.67 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 71.62 | gold quality |
| upper leg skin | UBERON:0004262 | 71.53 | gold quality |
| deltoid | UBERON:0001476 | 71.51 | silver quality |
| cardiac atrium | UBERON:0002081 | 71.49 | gold quality |
| squamous epithelium | UBERON:0006914 | 71.45 | gold quality |
| skin of abdomen | UBERON:0001416 | 71.43 | gold quality |
| corpus epididymis | UBERON:0004359 | 71.29 | gold quality |
| mouth mucosa | UBERON:0003729 | 71.25 | gold quality |
| putamen | UBERON:0001874 | 71.16 | gold quality |
| adenohypophysis | UBERON:0002196 | 70.97 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 53.09 |
| E-ANND-3 | yes | 6.70 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 76 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM |
|---|---|---|
| Postcentral gyrus | tissue | 57.6 |
| Cerebral cortex | tissue | 43.7 |
| Somatosensory cortex | tissue | 43.7 |
| Occipital cortex | tissue | 43.4 |
| Pons | tissue | 40.4 |
| Thalamus | tissue | 39.1 |
| Motor cortex | tissue | 38.7 |
| Superior colliculi | tissue | 37.8 |
| Retrosplenial and cingulate cortex | tissue | 35.6 |
| Olfactory bulb | tissue | 35.5 |
| Hippocampal formation | tissue | 35.3 |
| Entorhinal cortex | tissue | 35.3 |
| Prefrontal cortex | tissue | 35.1 |
| Midbrain | tissue | 35.0 |
| Retrosplenial cortex | tissue | 34.7 |
| Putamen | tissue | 34.3 |
| Temporal cortex | tissue | 32.8 |
| Substantia nigra | tissue | 32.3 |
| Locus coeruleus | tissue | 32.3 |
| Insular cortex | tissue | 32.2 |
| Hypothalamus | tissue | 30.7 |
| Liver | tissue | 30.1 |
| Ventral forebrain | tissue | 29.7 |
| Cerebellum | tissue | 29.1 |
| Medulla oblongata | tissue | 28.1 |
| Septum | tissue | 27.8 |
| Periaqueductal gray | tissue | 27.3 |
| Basal ganglia | tissue | 26.8 |
| Choroid plexus | tissue | 26.6 |
| Hippocampus | tissue | 25.3 |
| Amygdala | tissue | 25.2 |
| Frontal cortex | tissue | 23.7 |
| Caudate putamen | tissue | 22.3 |
| Nucleus accumbens | tissue | 21.5 |
| Spinal cord | tissue | 21.5 |
| Corpus callosum | tissue | 18.7 |
| Skeletal muscle | tissue | 18.4 |
| Tongue | tissue | 8.9 |
| Testis | tissue | 7.2 |
| Salivary gland | tissue | 7.1 |
| Retina | tissue | 6.6 |
| Thyroid gland | tissue | 6.0 |
| Heart muscle | tissue | 4.7 |
| Kidney | tissue | 4.3 |
| Epididymis | tissue | 4.2 |
| Prostate | tissue | 4.0 |
| Adrenal gland | tissue | 3.7 |
| Pituitary gland | tissue | 3.6 |
| Pancreas | tissue | 3.3 |
| Breast | tissue | 3.0 |
| Parathyroid gland | tissue | 3.0 |
| Skin 1 | tissue | 2.9 |
| Vagina | tissue | 2.9 |
| Esophagus | tissue | 2.9 |
| Duodenum | tissue | 2.9 |
| Small intestine | tissue | 2.8 |
| Stomach 1 | tissue | 2.7 |
| Ovary | tissue | 2.6 |
| Rectum | tissue | 2.5 |
| Spleen | tissue | 2.5 |
Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Nuclei of the trapezoid body (44.7), Postcentral gyrus, middle (43.7), Nucleus raphe magnus (43.5), Paracentral lobule, anterior (41.9), Precentral gyrus (41.7).
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
Targeting CPEB3 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 314 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
Functional genomics
gnomAD constraint: pLI 0.599, LOEUF 0.585, missense Z 1.29 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD)
ENST00000265997 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 |
|---|---|---|---|
| 10:92,052,215–92,111,101 | 103 / 251.1 | 0.41 | no |
| 10:92,111,102–92,240,350 | 643 / 717.5 | 0.90 | no |
Literature-anchored findings (GeneRIF, showing 25)
- isolation of a ribozyme conserved mammalian sequence that resides in an intron of the CPEB3 gene (PMID:16990549)
- Secondary structure determination and native gel analyses reveal that the cleaved population of the CPEB3 ribozyme has a single, secondary structure that closely resembles the HDV ribozyme (PMID:20524672)
- Together, these results indicate that Tob mediates the recruitment of Caf1 to the target of CPEB3 and elicits deadenylation and decay of the mRNA. (PMID:21336257)
- cleavage of CPEB3 by NMDA-activated calpain 2 accounts for the activity-related translation of CPEB3-targeted RNAs (PMID:22711986)
- Data suggest that the RNA recognition motif (RRM) domain of CPEB3 (as a soluble peptide fragment) exhibits protein conformation distinct from those of the canonical RRM domain. (PMID:25066254)
- Data show that EGF receptor (EGFR) is involved in the microRNA miR-107 pathogenesis of hepatocellular carcinoma (HCC) through cytoplasmic polyadenylation element binding protein 3 (CPEB3). (PMID:26497556)
- Data show that the expression of cytoplasmic polyadenylation element binding protein 3 (CPEB3) positively correlated with tumor progression and malignancy but negatively correlated with protein phosphorylation in the alternatively spliced region. (PMID:27256982)
- Expression of miR-26a and miR-29a was significantly down regulated in leukoplakia and cancer tissues but up regulated in lichen planus tissues. Expression of target genes such as, ADAMTS7, ATP1B1, COL4A2, CPEB3, CDK6, DNMT3a and PI3KR1 was significantly down regulated in at least two of three disease types with respect to normal tissues. (PMID:27515006)
- SUMO1P3 was upregulated in colorectal cancer tissues and cells and bore prognostic significance. SUMO1P3 epigenetically silenced CPEB3 through EZH2. SUMO1P3 regulated proliferation and apoptosis through CPEB3. (PMID:30799082)
- miRNA-301b-3p accelerates migration and invasion of high-grade ovarian serous tumor via targeting CPEB3/EGFR axis. (PMID:30834603)
- Here, we performed deep mutational scanning of self-cleaving CPEB3 ribozyme by error-prone PCR and showed that a library of <5 x 104 single-to-triple mutants is sufficient to infer 25 of 26 base pairs including non-nested, nonhelical, and noncanonical base pairs with both sensitivity and precision at 96%. (PMID:31872260)
- NFE2L1 and NFE2L3 Complementarily Maintain Basal Proteasome Activity in Cancer Cells through CPEB3-Mediated Translational Repression. (PMID:32366381)
- LINC00641 hinders the progression of cervical cancer by targeting miR-378a-3p/CPEB3. (PMID:32367630)
- MiR-224 Executes a Tumor Accelerative Role during Hepatocellular Carcinoma Malignancy by Targeting Cytoplasmic Polyadenylation Element-Binding Protein 3. (PMID:32454494)
- CPEB3 inhibits epithelial-mesenchymal transition by disrupting the crosstalk between colorectal cancer cells and tumor-associated macrophages via IL-6R/STAT3 signaling. (PMID:32653013)
- CPEB3-mediated MTDH mRNA translational suppression restrains hepatocellular carcinoma progression. (PMID:32968053)
- CPEB3 functions as a tumor suppressor in colorectal cancer via JAK/STAT signaling. (PMID:33146632)
- linc00968 inhibits the tumorigenesis and metastasis of lung adenocarcinoma via serving as a ceRNA against miR-9-5p and increasing CPEB3. (PMID:33159015)
- Decreased Expression of CPEB3 Predicts a Poor Prognosis in Patients with Melanoma: A Study Based on TCGA Data. (PMID:33506034)
- MiR-20b-5p promotes hepatocellular carcinoma cell proliferation, migration and invasion by down-regulating CPEB3. (PMID:33812045)
- CPEB3 overexpression caused by miR-106b-5p inhibition inhibits esophageal carcinoma in-vitro progression and metastasis. (PMID:35102025)
- CPEB3, an RNA-Binding Protein, Modulates the Behavior of Endometriosis-Derived Stromal Cells via Regulating CXCL12. (PMID:35451884)
- Conformational dynamics in the disordered region of human CPEB3 linked to memory consolidation. (PMID:35658951)
- Phase separation modulates the functional amyloid assembly of human CPEB3. (PMID:37898314)
- MicroRNA-92a-CPEB3 axis protects neurons against inflammatory neurodegeneration. (PMID:38000031)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cpeb3 | ENSDARG00000060103 |
| mus_musculus | Cpeb3 | ENSMUSG00000039652 |
| rattus_norvegicus | Cpeb3 | ENSRNOG00000020689 |
| drosophila_melanogaster | orb2 | FBGN0264307 |
| caenorhabditis_elegans | WBGENE00000770 | |
| caenorhabditis_elegans | WBGENE00000771 |
Paralogs (3): CPEB4 (ENSG00000113742), CPEB2 (ENSG00000137449), CPEB1 (ENSG00000214575)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:2443075) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 28 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| reduced female fertility | 2 |
| small ovary | 1 |
| impaired ovarian folliculogenesis | 1 |
| increased anxiety-related response | 1 |
| decreased locomotor activity | 1 |
| increased circulating follicle stimulating hormone level | 1 |
| abnormal long-term depression | 1 |
| decreased litter size | 1 |
| decreased corpora lutea number | 1 |
| abnormal calcium ion homeostasis | 1 |
| abnormal neuron physiology | 1 |
| ovary atrophy | 1 |
| decreased ovary weight | 1 |
| decreased circulating estradiol level | 1 |
| abnormal spatial reference memory | 1 |
| oocyte degeneration | 1 |
| enhanced contextual conditioning behavior | 1 |
| abnormal dendritic spine morphology | 1 |
| abnormal hippocampus pyramidal cell morphology | 1 |
| decreased primordial ovarian follicle number | 1 |
| decreased primary ovarian follicle number | 1 |
| decreased tertiary ovarian follicle number | 1 |
| increased granulosa cell apoptosis | 1 |
| decreased granulosa cell proliferation | 1 |
| premature ovarian failure | 1 |
+3 more (showing top 25).
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Pongo abelii | Q5R733 | 98.4% | Diamond |
| Xenopus laevis | Q52KN7 | 96.8% | Diamond |
| Carassius auratus | Q9DED5 | 95.3% | Diamond |
| Xenopus tropicalis | Q28CH2 | 86.0% | Diamond |
| Caenorhabditis briggsae | Q6E3F3 | 72.0% | Diamond |
| Caenorhabditis remanei | Q6E3F2 | 71.3% | Diamond |
| Aplysia californica | Q967R6 | 66.8% | Diamond |
| Caenorhabditis japonica | Q6E3F0 | 65.4% | Diamond |
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 |
|---|---|---|
| BTAF1 | protein-coding | 9044 |
| IDE | protein-coding | 3416 |
| MARCHF5 | protein-coding | 54708 |
| FGFBP3-AS1 | ncRNA | 140577504 |
| FGFBP3 | protein-coding | 143282 |
| TNKS2-DT | ncRNA | 100507633 |
| TNKS2 | protein-coding | 80351 |
Protein
Protein identifiers
Cytoplasmic polyadenylation element-binding protein 3 — Q8NE35 (reviewed: Q8NE35)
All UniProt accessions (2): Q8NE35, Q5QP71
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific RNA-binding protein which acts as a translational repressor in the basal unstimulated state but, following neuronal stimulation, acts as a translational activator. In contrast to CPEB1, does not bind to the cytoplasmic polyadenylation element (CPE), a uridine-rich sequence element within the mRNA 3’-UTR, but binds to a U-rich loop within a stem-loop structure. Required for the consolidation and maintenance of hippocampal-based long term memory. In the basal state, binds to the mRNA 3’-UTR of the glutamate receptors GRIA2/GLUR2 mRNA and negatively regulates their translation. Also represses the translation of DLG4, GRIN1, GRIN2A and GRIN2B. When activated, acts as a translational activator of GRIA1 and GRIA2. In the basal state, suppresses SUMO2 translation but activates it following neuronal stimulation. Binds to the 3’-UTR of TRPV1 mRNA and represses TRPV1 translation which is required to maintain normal thermoception. Binds actin mRNA, leading to actin translational repression in the basal state and to translational activation following neuronal stimulation. Negatively regulates target mRNA levels by binding to TOB1 which recruits CNOT7/CAF1 to a ternary complex and this leads to target mRNA deadenylation and decay. In addition to its role in translation, binds to and inhibits the transcriptional activation activity of STAT5B without affecting its dimerization or DNA-binding activity. This, in turn, represses transcription of the STAT5B target gene EGFR which has been shown to play a role in enhancing learning and memory performance. In contrast to CPEB1, CPEB2 and CPEB4, not required for cell cycle progression.
Subunit / interactions. Following synaptic activity, forms amyloid-like oligomers. Aggregation requires an intact actin cytoskeleton. Interacts with STAT5B; this inhibits STAT5B-mediated transcriptional activation. Interacts with E3 ubiquitin-protein ligase NEURL1; this leads to monoubiquitination and activation of CPEB3. Interacts with CAPN2; this leads to cleavage of CPEB3. Interacts (via C-terminal RNA-binding region) with TOB1; TOB1 also binds CNOT7/CAF1 and recruits it to CPEB3 to form a ternary complex. Interacts with SUMO-conjugating enzyme UBC9. Interacts with IPO5; the interaction is enhanced in a RAN-regulated manner following neuronal stimulation and mediates CPEB3 nuclear import. Interacts with exportin XPO1/CRM1.
Subcellular location. Cytoplasm. Nucleus. Synapse. Cell projection. Dendrite. Postsynaptic density.
Post-translational modifications. Activated by NEURL1-mediated monoubiquitination, resulting in the growth of new dendritic spines and increased levels of GRIA1 and GRIA2. NEURL1-mediated monoubiquitination facilitates synaptic plasticity and hippocampal-dependent memory storage. Under basal unstimulated conditions when CPEB3 is mainly unaggregated, sumoylated and acts as a translational repressor. Following neuronal stimulation, becomes desumoylated and aggregated which is required for the translation of mRNA targets and for dendritic filopodia formation. Following neuronal stimulation, cleaved by CAPN2 which abolishes its translational repressor activity, leading to translation of CPEB3 target mRNAs. Phosphorylation is enhanced by neuronal stimulation.
Domain organisation. The N-terminal Gln-rich region is required for the formation of amyloid-like oligomers and for the stability of long-term potentiation and spatial memory.
Miscellaneous. The CPEB3 gene contains an intron-encoded self-cleaving ribozyme which is structurally and biochemically related to human hepatitis delta virus ribozymes and which may play a role in the regulation of CPEB3 translation. A polymorphism in the ribozyme sequence which influences cleavage activity of the ribozyme may play a role in episodic memory with carriers of a rare C allele-containing ribozyme showing significantly poorer memory recall performance than T allele carriers.
Similarity. Belongs to the RRM CPEB family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NE35-1 | 1 | yes |
| Q8NE35-2 | 2 |
RefSeq proteins (2): NP_001171608, NP_055727* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR032296 | CEBP_ZZ | Domain |
| IPR034819 | CPEB | Family |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR038446 | CEBP_ZZ_sf | Homologous_superfamily |
Pfam: PF16366, PF16367
UniProt features (49 total): mutagenesis site 13, strand 10, compositionally biased region 7, modified residue 4, site 3, domain 2, splice variant 2, region of interest 2, helix 2, chain 1, sequence variant 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
6 structures by resolution:
| PDB | Title | Method | Resolution (Å) |
|---|---|---|---|
| 7N2E | MicroED structure of human CPEB3 segment (154-161) straight polymorph | ELECTRON CRYSTALLOGRAPHY | 1 |
| 7N2F | MicroED structure of human CPEB3 segment (154-161) straight polymorph phased by … | ELECTRON CRYSTALLOGRAPHY | 1.2 |
| 7N2G | MicroED structure of human CPEB3 segment(154-161) kinked polymorph phased by … | ELECTRON CRYSTALLOGRAPHY | 1.2 |
| 8SPA | Structural insights into cellular control of the human CPEB3 prion, functionally … | ELECTRON MICROSCOPY | 3 |
| 2DNL | Solution structure of RNA binding domain in Cytoplasmic polyadenylation element binding … | SOLUTION NMR | |
| 2RUG | Refined solution structure of the first RNA recognition motif domain in CPEB3 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NE35-F1 | 58.59 | 0.29 |
Human Protein Atlas
Protein class: Predicted intracellular proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): cytosol; midbody; nucleoplasm; plasma membrane
Antibody reliability (HPA): 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.
Catalytic / active sites (3)
| Position | Role |
|---|---|
| 441–442 | cleavage; by capn2 |
| 444 | required for rna-binding activity |
| 488 | required for rna-binding activity |
Post-translational modifications (4)
| Type | Positions |
|---|---|
| Phosphoserine | 192, 195, 290 |
| Asymmetric dimethylarginine | 308 |
Mutagenesis-validated functional residues (13)
| Position | Phenotype |
|---|---|
| 349 | abolishes nuclear export; when associated with a-353. |
| 353 | abolishes nuclear export; when associated with a-349. |
| 441 | does not impair rna binding. |
| 444 | abolishes rna binding. |
| 444 | does not impair rna binding. |
| 446 | does not impair rna binding. |
| 463 | does not impair rna binding. |
| 470 | does not impair rna binding. |
| 474 | does not impair rna binding. |
| 479 | does not impair rna binding. |
| 488 | reduced rna binding. |
| 488 | does not impair rna binding. |
| 528 | does not impair rna binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
MSigDB gene sets: 438 (showing top):
GOBP_CYTOPLASMIC_TRANSLATION, GOBP_DENDRITE_DEVELOPMENT, GOBP_MEMORY, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_COGNITION, GOBP_BEHAVIOR, MORF_MSH3, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_RESPONSE_TO_ACID_CHEMICAL, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_SYNAPSE_ASSEMBLY, SP3_Q3, ATACCTC_MIR202, MORF_BRCA1, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP
GO Biological Process (16): negative regulation of transcription by RNA polymerase II (GO:0000122), long-term memory (GO:0007616), negative regulation of translation (GO:0017148), positive regulation of translation (GO:0045727), regulation of synaptic plasticity (GO:0048167), positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213), regulation of dendritic spine development (GO:0060998), positive regulation of dendritic spine development (GO:0060999), 3’-UTR-mediated mRNA destabilization (GO:0061158), cellular response to amino acid stimulus (GO:0071230), regulation of postsynapse assembly (GO:0150052), positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153), negative regulation of cytoplasmic translational elongation (GO:1900248), negative regulation of cytoplasmic translation (GO:2000766), translation (GO:0006412), regulation of translation (GO:0006417)
GO Molecular Function (10): mRNA regulatory element binding translation repressor activity (GO:0000900), RNA binding (GO:0003723), mRNA 3’-UTR binding (GO:0003730), translation factor activity, RNA binding (GO:0008135), RNA stem-loop binding (GO:0035613), mRNA 3’-UTR AU-rich region binding (GO:0035925), ribosome binding (GO:0043022), nucleic acid binding (GO:0003676), protein binding (GO:0005515), translation regulator activity (GO:0045182)
GO Cellular Component (9): nucleus (GO:0005634), cytoplasm (GO:0005737), postsynaptic density (GO:0014069), CCR4-NOT complex (GO:0030014), dendrite (GO:0030425), neuron projection (GO:0043005), synapse (GO:0045202), apical dendrite (GO:0097440), postsynapse (GO:0098794)
GO top-level categories
showing 60 of 64 GO namespaces:
| Category | Terms |
|---|---|
| translation | 4 |
| regulation of translation | 3 |
| positive regulation of mRNA catabolic process | 2 |
| dendritic spine development | 2 |
| mRNA binding | 2 |
| RNA binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| memory | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of protein metabolic process | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| modulation of chemical synaptic transmission | 1 |
| regulation of biological quality | 1 |
| nuclear-transcribed mRNA poly(A) tail shortening | 1 |
| regulation of nuclear-transcribed mRNA poly(A) tail shortening | 1 |
| regulation of developmental process | 1 |
| positive regulation of developmental process | 1 |
| regulation of dendritic spine development | 1 |
| mRNA destabilization | 1 |
| response to amino acid | 1 |
| cellular response to acid chemical | 1 |
| regulation of synapse assembly | 1 |
| postsynapse assembly | 1 |
| regulation of postsynapse organization | 1 |
| nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | 1 |
| cytoplasmic translational elongation | 1 |
| negative regulation of translational elongation | 1 |
| regulation of cytoplasmic translational elongation | 1 |
| negative regulation of cytoplasmic translation | 1 |
| cytoplasmic translation | 1 |
| negative regulation of translation | 1 |
| regulation of cytoplasmic translation | 1 |
| peptidyltransferase activity | 1 |
| translational initiation | 1 |
| translational elongation | 1 |
| translational termination | 1 |
| macromolecule biosynthetic process | 1 |
| protein metabolic process | 1 |
| protein biosynthetic process | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| translation repressor activity | 1 |
| nucleic acid binding | 1 |
| translation factor activity | 1 |
| mRNA 3’-UTR binding | 1 |
| ribonucleoprotein complex binding | 1 |
| molecular_function | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| intracellular protein-containing complex | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 13 of 35 annotations. The rest are phylogenetic / computational / electronic (IEA).
13 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| 3’-UTR-mediated mRNA destabilization | BP | direct assay |
| cellular response to amino acid stimulus | BP | direct assay |
| negative regulation of transcription by RNA polymerase II | BP | direct assay |
| negative regulation of translation | BP | direct assay |
| positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | BP | direct assay |
| positive regulation of nuclear-transcribed mRNA poly(A) tail shortening | BP | direct assay |
| CCR4-NOT complex | CC | direct assay |
| cytoplasm | CC | direct assay |
| neuron projection | CC | direct assay |
| nucleus | CC | direct assay |
| RNA binding | MF | direct assay |
| mRNA 3’-UTR binding | MF | direct assay |
| translation factor activity, RNA binding | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 784 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CPEB3 | OR4K15 | Q8NH41 | 921 |
| CPEB3 | FXR1 | P51114 | 623 |
| CPEB3 | IGF1R | P08069 | 528 |
| CPEB3 | TENT2 | Q6PIY7 | 525 |
| CPEB3 | FXR2 | P51116 | 497 |
| CPEB3 | FMR1 | Q06787 | 492 |
| CPEB3 | PNKP | Q96T60 | 491 |
| CPEB3 | PAPOLB | Q9NRJ5 | 424 |
| CPEB3 | PAPOLG | Q9BWT3 | 421 |
| CPEB3 | PAPOLA | P51003 | 420 |
| CPEB3 | SYMPK | Q92797 | 393 |
| CPEB3 | GRIA1 | P42261 | 388 |
| CPEB3 | EIF4E | P06730 | 375 |
| CPEB3 | RNF130 | Q86XS8 | 365 |
| CPEB3 | LEO1 | Q8WVC0 | 364 |
IntAct
Human interaction partners of CPEB3 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
3 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| TOB1 | association | 0.650 | 7 |
| TOB2 | physical association | 0.400 | 1 |
| TNIK | physical association | 0.000 | 1 |
BioGRID (10 interactions; top human partners by supporting records): CPEB4 (Affinity Capture-MS), EGLN3 (Affinity Capture-MS), KIAA1429 (Affinity Capture-RNA), NUDT21 (Affinity Capture-RNA), NXF1 (Affinity Capture-RNA)
SIGNOR signaling
1 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| NEURL1 | “up-regulates activity” | CPEB3 | ubiquitination |
Disease & clinical
Cancer significance
From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — BCC.
intOGen’s role is a computational inference from cohort mutation patterns and may diverge from the gene’s curated/literature role; read it alongside the evidence above.
Genetic variants
Variant evidence for CPEB3: 103 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 1 |
| Benign | 1 |
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 36 predictions of 2,235):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 10:92081318–92081319 | donor_loss | 1.0000 | 4 |
| 10:92081502–92081503 | acceptor_loss | 1.0000 | 4 |
| 10:92081506 | acceptor_gain | 1.0000 | |
| 10:92091828–92091829 | donor_loss | 1.0000 | 5 |
| 10:92111074–92111075 | donor_loss | 1.0000 | 5 |
| 10:92111195–92111196 | acceptor_gain | 1.0000 | 2 |
| 10:92111195–92111196 | acceptor_loss | 1.0000 | 4 |
| 10:92111207 | acceptor_gain | 1.0000 | |
| 10:92143027–92143028 | donor_loss | 1.0000 | 5 |
| 10:92143119–92143120 | acceptor_loss | 1.0000 | 5 |
AlphaMissense
2,365 missense substitutions predicted likely pathogenic (of 4,603 scored), across 494 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 |
|---|---|---|---|
| M569 | 9 | 0.994 | 1.000 |
| F444 | 8 | 1.000 | 1.000 |
| D451 | 8 | 1.000 | 1.000 |
| F552 | 8 | 1.000 | 1.000 |
| D582 | 8 | 1.000 | 1.000 |
| F598 | 8 | 1.000 | 1.000 |
| H671 | 8 | 1.000 | 1.000 |
| H679 | 8 | 1.000 | 1.000 |
| F461 | 8 | 0.999 | 1.000 |
| D584 | 8 | 0.999 | 1.000 |
| D637 | 8 | 0.999 | 1.000 |
| D470 | 8 | 0.998 | 1.000 |
| F481 | 8 | 0.998 | 1.000 |
| F488 | 8 | 0.998 | 1.000 |
| S517 | 8 | 0.998 | 1.000 |
| D632 | 8 | 0.998 | 1.000 |
| F652 | 8 | 0.998 | 1.000 |
| D453 | 8 | 0.997 | 0.999 |
| H473 | 8 | 0.997 | 1.000 |
| F491 | 8 | 0.996 | 1.000 |
HPA cancer prognostics
RNA cancer specificity: Low cancer specificity
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
8 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Liver Hepatocellular Carcinoma (validation) | favorable | 2.64e-06 |
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 3.41e-05 |
| Head and Neck Squamous Cell Carcinoma (TCGA) | favorable | 0.000194 |
| Liver Hepatocellular Carcinoma (TCGA) | favorable | 0.000316 |
| Kidney Renal Clear Cell Carcinoma (validation) | favorable | 0.000344 |
| Bladder Urothelial Carcinoma (TCGA) | favorable | 0.000676 |
| Colon Adenocarcinoma (validation) | unfavorable | 0.000827 |
| Glioblastoma Multiforme (validation) | favorable | 0.000986 |
Disease associations
OMIM: gene MIM:610606 | disease phenotypes:
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (1): Tourette syndrome (MONDO:0007661)
GWAS associations
2 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST90002394_224 | Monocyte percentage of white cells | 9e-10 |
| GCST007576_305 | Chronotype | 2e-9 |
EFO canonical traits (from GWAS)
2 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0007989 | monocyte percentage of leukocytes |
MeSH disease descriptors
1 disease descriptors:
| 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 (CPIC guideline: no)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Benzo(a)pyrene | decreases expression, decreases methylation | 3 |
| Valproic Acid | increases expression | 3 |
| Arsenic | increases abundance, increases expression, affects methylation | 2 |
| Cadmium | decreases expression, increases abundance, decreases reaction | 2 |
| Silicon Dioxide | decreases expression, increases methylation | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Atrazine | increases expression | 1 |
| Calcitriol | increases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Folic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
showing 60 of 185 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 |
| 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 |
| NCT00139308 | Phase 1 | COMPLETED | High Frequency Stimulation of the GPi or Thalamus in Tourette’s Syndrome |
| NCT00634556 | Phase 1 | COMPLETED | Dopaminergic Effects on Cortical Function in Tourette’s (Levodopa Protocol) |
| NCT00952601 | Phase 1 | TERMINATED | Pilot Study of the Modified Atkins Diet for Tourette Syndrome |
| NCT01440023 | Phase 1 | COMPLETED | Developing Cognitive Training for Tourette Syndrome |
| NCT01719523 | Phase 1 | COMPLETED | Open-Trial of EPI-743 for Adults With Tourette Syndrome |
| NCT02134080 | Phase 1 | TERMINATED | FAAH Inhibitor Trial for Adults With Tourette Syndrome |
Related Atlas pages
- Associated diseases: Tourette syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Tourette syndrome