RACK1
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Also known as Gnb2-rs1H12.3
Summary
RACK1 (receptor for activated C kinase 1, HGNC:4399) is a protein-coding gene on chromosome 5q35.3, encoding Small ribosomal subunit protein RACK1 (P63244). Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).
Enables several functions, including cyclin binding activity; enzyme binding activity; and protein domain specific binding activity. Involved in several processes, including regulation of macromolecule metabolic process; regulation of signal transduction; and regulation of vesicle-mediated transport. Located in several cellular components, including midbody; perinuclear region of cytoplasm; and phagocytic cup. Part of IRE1-RACK1-PP2A complex.
Source: NCBI Gene 10399 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 32 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_006098
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4399 |
| Approved symbol | RACK1 |
| Name | receptor for activated C kinase 1 |
| Location | 5q35.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Gnb2-rs1, H12.3 |
| Ensembl gene | ENSG00000204628 |
| Ensembl biotype | protein_coding |
| OMIM | 176981 |
| Entrez | 10399 |
Gene structure
Transcript identifiers
Ensembl transcripts: 49 — 32 protein_coding, 9 retained_intron, 5 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000376817, ENST00000502548, ENST00000502844, ENST00000502890, ENST00000502905, ENST00000503081, ENST00000503170, ENST00000503494, ENST00000504128, ENST00000504325, ENST00000504726, ENST00000505461, ENST00000506312, ENST00000507000, ENST00000507261, ENST00000507273, ENST00000507756, ENST00000508044, ENST00000508682, ENST00000508963, ENST00000509148, ENST00000509535, ENST00000510199, ENST00000511473, ENST00000511566, ENST00000511900, ENST00000512805, ENST00000512968, ENST00000513027, ENST00000513060, ENST00000514183, ENST00000514318, ENST00000514455, ENST00000515417, ENST00000626067, ENST00000889840, ENST00000889841, ENST00000923653, ENST00000923654, ENST00000923655, ENST00000923656, ENST00000923657, ENST00000923658, ENST00000923659, ENST00000923660, ENST00000923661, ENST00000923662, ENST00000923663, ENST00000923664
RefSeq mRNA: 1 — MANE Select: NM_006098
NM_006098
CCDS: CCDS34324
Canonical transcript exons
ENST00000512805 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001471776 | 181243692 | 181243906 |
| ENSE00003459155 | 181242174 | 181242345 |
| ENSE00003501952 | 181239487 | 181239582 |
| ENSE00003542884 | 181238099 | 181238239 |
| ENSE00003618867 | 181237609 | 181237719 |
| ENSE00003646461 | 181241492 | 181241639 |
| ENSE00003687752 | 181239067 | 181239177 |
| ENSE00003894121 | 181236897 | 181237042 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 99.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2141.1977 / max 10164.8994, expressed in 1828 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 65373 | 2089.9530 | 1828 |
| 65372 | 18.2000 | 1743 |
| 65360 | 5.9040 | 1510 |
| 65363 | 4.6294 | 1590 |
| 65364 | 3.8594 | 1484 |
| 65369 | 3.6378 | 1362 |
| 65367 | 2.8022 | 1233 |
| 65358 | 1.7477 | 969 |
| 65368 | 1.5963 | 1031 |
| 65361 | 1.5087 | 888 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pericardium | UBERON:0002407 | 99.99 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.99 | gold quality |
| endometrium epithelium | UBERON:0004811 | 99.98 | gold quality |
| body of tongue | UBERON:0011876 | 99.98 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.97 | gold quality |
| nipple | UBERON:0002030 | 99.97 | gold quality |
| trachea | UBERON:0003126 | 99.97 | gold quality |
| vena cava | UBERON:0004087 | 99.97 | gold quality |
| saphenous vein | UBERON:0007318 | 99.97 | gold quality |
| tongue | UBERON:0001723 | 99.96 | gold quality |
| thymus | UBERON:0002370 | 99.95 | gold quality |
| cerebellar vermis | UBERON:0004720 | 99.95 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.95 | gold quality |
| mammary duct | UBERON:0001765 | 99.94 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 99.93 | gold quality |
| cardia of stomach | UBERON:0001162 | 99.93 | gold quality |
| pylorus | UBERON:0001166 | 99.93 | gold quality |
| caput epididymis | UBERON:0004358 | 99.92 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.92 | gold quality |
| urethra | UBERON:0000057 | 99.91 | gold quality |
| penis | UBERON:0000989 | 99.91 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.91 | gold quality |
| cartilage tissue | UBERON:0002418 | 99.88 | gold quality |
| renal medulla | UBERON:0000362 | 99.86 | gold quality |
| pons | UBERON:0000988 | 99.86 | gold quality |
| embryo | UBERON:0000922 | 99.85 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.85 | gold quality |
| synovial joint | UBERON:0002217 | 99.85 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.85 | gold quality |
| paraflocculus | UBERON:0005351 | 99.85 | gold quality |
Single-cell (SCXA)
Detected in 27 experiment(s), a significant marker in 14.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6308 | yes | 4409.42 |
| E-MTAB-9221 | yes | 2882.97 |
| E-HCAD-9 | yes | 2457.17 |
| E-CURD-122 | yes | 88.76 |
| E-CURD-46 | yes | 66.64 |
| E-CURD-88 | yes | 57.24 |
| E-HCAD-11 | yes | 49.48 |
| E-MTAB-6678 | yes | 35.09 |
| E-MTAB-9067 | yes | 32.95 |
| E-HCAD-13 | yes | 27.81 |
| E-CURD-112 | yes | 22.10 |
| E-MTAB-10042 | yes | 16.35 |
| E-MTAB-9543 | yes | 15.17 |
| E-MTAB-9801 | yes | 6.47 |
| E-MTAB-11121 | no | 4434.13 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, FOXO1, REL, TP53
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 40)
- Aberrant expression of signaling-related proteins 14-3-3 gamma and RACK1 in fetal Down syndrome brain (trisomy 21).(RACK1 or PROTEIN KINASE C RECEPTOR) (PMID:11824616)
- RACK1, an insulin-like growth factor I (IGF-I) receptor-interacting protein, modulates IGF-I-dependent integrin signaling and promotes cell spreading and contact with extracellular matrix (PMID:11884618)
- The anchoring protein RACK1 links protein kinase Cepsilon to integrin beta chains. (PMID:11934885)
- Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na+/H+ exchange regulatory factor. (PMID:11956211)
- RACK1 is an insulin-like growth factor 1 (IGF-1) receptor-interacting protein that can regulate IGF-1-mediated Akt activation and protection from cell death. (PMID:11964397)
- As an interaction partner of factor associated with neutral sphingomyelinase (N-SMase) activation, RACK1 modulates activation of N-SMase by TNF. (PMID:12391233)
- RACK-1 serves as a scaffold protein for a multiprotein complex that includes the IFN-alpha receptor 2/beta-chain of the receptor, STAT1, Janus kinase 1, and tyrosine kinase 2. (PMID:12960323)
- eIF6 release regulates ribosome subunit joining and RACK1 provides a physical and functional link between PKC signalling and ribosome activation (PMID:14654845)
- associate Ki-1/57 with the RACK1/PKC pathway and may be important for the regulation of its cellular functions (PMID:14699138)
- RACK1 regulates specific functions of Gbetagamma (PMID:14963031)
- propose a previously unrecognized function of plectin as cytoskeletal regulator of PKC signaling (dislocation of PKCdelta and elevated enzymatic activity), and possibly other signaling events, through sequestration of the scaffolding protein RACK1 (PMID:14966116)
- interacts with the terminal region of the dopamine transporter (PMID:15202772)
- RACK-I anchors activated PKC-beta on the melanosome membrane, allowing PKC-beta to phosphorylate tyrosinase (PMID:15252133)
- RACK1 regulates G1/S progression by suppressing Src kinase activity (PMID:15254245)
- RACK1 physically associated with the p63alpha C-terminal domain through its WD40 domain. However, stratifin binds with phosphorylated DeltaNp63alpha in response to cisplatin. (PMID:15467455)
- The relevant consequence of RACK-1-reduced expression was the observation that release of tumor necrosis factor alpha following lipopolysaccharide challenge and mitogen-induced lymphocye proliferation. (PMID:15548575)
- RACK1 is a structural component of the ribosomal small subunit (40S). (PMID:15577927)
- RACK1 has a scaffolding function and regulates adhesion and insulin-like growth factor I signals that are necessary to regulate Akt activity and to promote turnover of focal adhesions and cell migration (PMID:15611085)
- RACK1, the receptor for activated C kinase 1, serves as an adaptor for PKC-mediated JNK activation. (PMID:16061178)
- RACK1 mRNA has a 5’ terminal oligopyrimidine sequence and that its translation is dependent on the availability of serum and amino acids in exactly the same way as any other vertebrate ribosomal protein mRNA. (PMID:16212959)
- RACK1 mediates recruitment of STAT3 to IR and IGF-1R specifically for activation, suggesting a general paradigm for the need of an adaptor in mediating activation of STATs by receptor protein tyrosine kinases. (PMID:16382134)
- RACK1 and beta-arrestin compete to sequester distinct ‘pools’ of PDE4D5. (PMID:16689683)
- The dysregulation of cytokine production observed in Alzheimer’s disease patients may partially be explained by a significant reduction in the expression of RACK-1 (PMID:16702786)
- RACK1 enhances IGF-I-mediated cell migration through its ability to exclusively associate with either beta1 integrin or PP2A in a complex at the IGF-IR. (PMID:16705158)
- These results together suggested that RACK1 might act as a novel signal molecule to mediate or regulate the functions of PER1 through protein interaction. (PMID:16757810)
- These results suggest that RACK1 modulates transcription of alpha2(I) collagen by TGF-beta1 through interference with Smad3 binding to the gene promoter. (PMID:16849317)
- RACK1 activates NHE5 both by integrin-dependent and independent pathways, which may coordinate cellular ion homeostasis during cell-matrix adhesion. (PMID:16920332)
- molecular complex most likely to obstruct RACK1 for functional attachment at syndecan-2, as revealed in cells transfected with oncogenic ras (PMID:16997272)
- RACK1 regulates mitotic exit by suppressing Src-mediated Sam68 phosphorylation and maintaining the cyclin-dependent kinase (CDK) 1-cyclin B complex in an active state. (PMID:17072338)
- RACK1 binds to the BK(Ca) channel and it may form part of a BK(Ca)-channel regulatory complex in vascular smooth muscle. (PMID:17166942)
- Dpl interacts with RACK1 by means of its structured globular carboxyl-terminal region (PMID:17201176)
- RACK1 amd Rac2 are components of complexes involved in NK cell homotypic adhesion. (PMID:17269730)
- Review discusses how RACK1 promotes the ubiquitination and degradation of HIF-1 alpha through competition with HSP90 and recruitment of the elongin-C/B ubiquitin ligase complex. (PMID:17361105)
- Model a RACK1 proteome consisting of PKCepsilon-RACK1-NHERF1-NHERF1-tubulin with a role in stable expression of CFTR in the apical plasma membrane of epithelial cells. (PMID:17409124)
- primary pulmonary arterial smooth muscle cells demonstrated colocalization of BMPRII and RACK1 in vivo (PMID:17515463)
- These findings support a novel role for RACK1 as a key regulator of cell migration and adhesion dynamics through the regulation of Src activity, and the modulation of paxillin phosphorylation at early adhesions. (PMID:17574549)
- direct interaction between RACK1 and PER1 (PMID:17718421)
- SSAT1, which shares 46% amino acid identity with SSAT2, also binds to HIF-1alpha and promotes its ubiquitination/degradation. However, in contrast to SSAT2, SSAT1 acts by stabilizing the interaction of HIF-1alpha with RACK1 (PMID:17875644)
- These results suggest that PKCepsilon signaling in the basal airway cell may involve RACK1; however, PKCepsilon regulation in ciliated cells uses RACK1-independent pathways. (PMID:17875659)
- Examine interactions between phosphodiesterase 4D5 (PDE4D5) and beta-arrestin and RACK1. (PMID:17900862)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rack1 | ENSDARG00000041619 |
| mus_musculus | Rack1 | ENSMUSG00000020372 |
| rattus_norvegicus | Rack1 | ENSRNOG00000052620 |
| drosophila_melanogaster | Rack1 | FBGN0020618 |
| caenorhabditis_elegans | WBGENE00010556 |
Protein
Protein identifiers
Small ribosomal subunit protein RACK1 — P63244 (reviewed: P63244)
Alternative names: Cell proliferation-inducing gene 21 protein, Guanine nucleotide-binding protein subunit beta-2-like 1, Guanine nucleotide-binding protein subunit beta-like protein 12.3, Human lung cancer oncogene 7 protein, Receptor for activated C kinase, Receptor for activated C kinase 1, Receptor of activated protein C kinase 1
All UniProt accessions (23): D6R909, D6R9L0, D6R9Z1, D6RAC2, D6RAU2, D6RBD0, D6RDI0, D6REE5, D6RF23, D6RFX4, D6RFZ9, D6RGK8, D6RHH4, D6RHJ5, E9KL35, E9PD14, P63244, H0Y8R5, H0Y8W2, H0Y9P0, H0YAF8, H0YAM7, J3KPE3
UniProt curated annotations — full annotation on UniProt →
Function. Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules. Interacts with a wide variety of proteins and plays a role in many cellular processes. Component of the 40S ribosomal subunit involved in translational repression. Involved in the initiation of the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, by promoting ubiquitination of a subset of 40S ribosomal subunits. Binds to and stabilizes activated protein kinase C (PKC), increasing PKC-mediated phosphorylation. May recruit activated PKC to the ribosome, leading to phosphorylation of EIF6. Inhibits the activity of SRC kinases including SRC, LCK and YES1. Inhibits cell growth by prolonging the G0/G1 phase of the cell cycle. Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity of the BMAL1-CLOCK heterodimer. Facilitates ligand-independent nuclear translocation of AR following PKC activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC. Modulates IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix. Involved in PKC-dependent translocation of ADAM12 to the cell membrane. Promotes the ubiquitination and proteasome-mediated degradation of proteins such as CLEC1B and HIF1A. Required for VANGL2 membrane localization, inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation. Required for PTK2/FAK1 phosphorylation and dephosphorylation. Regulates internalization of the muscarinic receptor CHRM2. Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX with the anti-apoptotic factor BCL2L. Inhibits TRPM6 channel activity. Regulates cell surface expression of some GPCRs such as TBXA2R. Plays a role in regulation of FLT1-mediated cell migration. Involved in the transport of ABCB4 from the Golgi to the apical bile canalicular membrane. Promotes migration of breast carcinoma cells by binding to and activating RHOA. Acts as an adapter for the dephosphorylation and inactivation of AKT1 by promoting recruitment of PP2A phosphatase to AKT1. (Microbial infection) Binds to Y.pseudotuberculosis yopK which leads to inhibition of phagocytosis and survival of bacteria following infection of host cells. (Microbial infection) Enhances phosphorylation of HIV-1 Nef by PKCs. (Microbial infection) In case of poxvirus infection, remodels the ribosomes so that they become optimal for the viral mRNAs (containing poly-A leaders) translation but not for host mRNAs. (Microbial infection) Contributes to the cap-independent internal ribosome entry site (IRES)-mediated translation by some RNA viruses.
Subunit / interactions. Monomer; also forms homodimers and homooligomers. Interacts with CPNE3. May interact with ABCB4. Component of the small (40S) ribosomal subunit. Interacts with the 80S ribosome. Binds NHERF1. Forms a ternary complex with TRIM63 and PRKCE. Interacts with HABP4, KRT1 and OTUB1. Interacts with SRC (via SH2 domain); the interaction is enhanced by tyrosine phosphorylation of RACK1. Recruited in a circadian manner into a nuclear complex which also includes BMAL1 and PRKCA. Interacts with AR. Interacts with IGF1R but not with INSR. Interacts with ADAM12. Interacts with CLEC1B (via N-terminal region) and with HIF1A; the interaction promotes their degradation. Interacts with RHOA; this enhances RHOA activation and promotes cell migration. Interacts with CHRM2; the interaction regulates CHRM2 internalization. Interacts with TRPM6 (via kinase domain). Interacts with PTK2/FAK1; required for PTK2/FAK1 phosphorylation and dephosphorylation. Interacts with FLT1. Interacts with TBXA2R isoform 2. Interacts with HRAS. Interacts with LARP4B. Interacts with LARP4. Interacts with PKD2L1. Interacts with isoform 2 of SLC4A7. Interacts with SLC9A5; this interaction regulates SLC9A5 cell-surface targeting and SLC9A5 activity. Interacts with SLC9A6; this interaction regulates the distribution of SLC9A6 between endosomes and the plasma membrane. Interacts with LACC1; this interaction may regulate macrophage autophagic flux. (Microbial infection) Interacts with Y.pseudotuberculosis yopK. (Microbial infection) Interacts with Y.pseudotuberculosis yopK. Interacts with a number of viral proteins including Epstein-Barr virus BZLF1 and HIV-1 Nef; interaction with Nef increases Nef phosphorylation by PKC. (Microbial infection) Interacts with human respiratory syncytial virus matrix protein M; this interaction suppresses interferon signaling. (Microbial infection) Interacts with Influenza protein PA-X. (Microbial infection) Interacts with Toxoplasma gondii SAG1; the interaction promotes viability of host cells.
Subcellular location. Cell membrane. Cytoplasm. Perinuclear region. Nucleus. Perikaryon. Cell projection. Dendrite. Phagocytic cup.
Tissue specificity. In the liver, expressed at higher levels in activated hepatic stellate cells than in hepatocytes or Kupffer cells. Up-regulated in hepatocellular carcinomas and in the adjacent non-tumor liver tissue.
Post-translational modifications. Phosphorylated on Tyr-228 and/or Tyr-246 by SRC. This is required for binding to SRC. (Microbial infection) Phosphorylated by vaccinia virus B1 kinase on serine and threonine residues; this phosphorylation remodels the ribosome properties, favoring the viral mRNA translation.
Domain organisation. The 7 WD repeats mediate protein-protein interactions with binding partners.
Similarity. Belongs to the WD repeat G protein beta family. Ribosomal protein RACK1 subfamily.
RefSeq proteins (1): NP_006089* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR045223 | RACK1-like | Family |
Pfam: PF00400
UniProt features (83 total): strand 39, modified residue 14, mutagenesis site 13, repeat 7, turn 4, sequence conflict 3, chain 2, initiator methionine 1
Structure
Experimental structures (PDB)
204 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8GLP | ELECTRON MICROSCOPY | 1.67 |
| 8QOI | ELECTRON MICROSCOPY | 1.9 |
| 9O3W | ELECTRON MICROSCOPY | 1.9 |
| 8YOO | ELECTRON MICROSCOPY | 2 |
| 9C3H | ELECTRON MICROSCOPY | 2 |
| 7R4X | ELECTRON MICROSCOPY | 2.15 |
| 9I2D | ELECTRON MICROSCOPY | 2.19 |
| 9PBE | ELECTRON MICROSCOPY | 2.19 |
| 8YOP | ELECTRON MICROSCOPY | 2.2 |
| 9O3V | ELECTRON MICROSCOPY | 2.2 |
| 9O3Y | ELECTRON MICROSCOPY | 2.2 |
| 8JDK | ELECTRON MICROSCOPY | 2.26 |
| 8G5Y | ELECTRON MICROSCOPY | 2.29 |
| 9S3D | ELECTRON MICROSCOPY | 2.32 |
| 9RPV | ELECTRON MICROSCOPY | 2.35 |
| 9S3B | ELECTRON MICROSCOPY | 2.38 |
| 8K2C | ELECTRON MICROSCOPY | 2.4 |
| 8XSX | ELECTRON MICROSCOPY | 2.4 |
| 9SPF | ELECTRON MICROSCOPY | 2.4 |
| 9SPI | ELECTRON MICROSCOPY | 2.4 |
| 8JDL | ELECTRON MICROSCOPY | 2.42 |
| 9S3C | ELECTRON MICROSCOPY | 2.42 |
| 4AOW | X-RAY DIFFRACTION | 2.45 |
| 9QLO | ELECTRON MICROSCOPY | 2.47 |
| 9P8B | ELECTRON MICROSCOPY | 2.48 |
| 7XNY | ELECTRON MICROSCOPY | 2.5 |
| 8JDJ | ELECTRON MICROSCOPY | 2.5 |
| 9RUC | ELECTRON MICROSCOPY | 2.5 |
| 8G60 | ELECTRON MICROSCOPY | 2.54 |
| 8IFE | ELECTRON MICROSCOPY | 2.57 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P63244-F1 | 92.54 | 0.82 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (14): 1, 2, 6, 10, 52, 96, 130, 183, 228, 276, 277, 278, 279, 316
Mutagenesis-validated functional residues (13):
| Position | Phenotype |
|---|---|
| 36–38 | in demut; abolishes association with the ribosome and ability to initiate the ribosome quality control (rqc). |
| 52 | no effect on binding to src. abolishes binding to ptk2/fak1 and reduces cell adhesion and foci formation. |
| 57 | decreased binding to ptk2/fak1; when associated with a-60. |
| 60 | decreased binding to ptk2/fak1; when associated with a-57. |
| 127 | decreased binding to ptk2/fak1; when associated with a-130. |
| 130 | decreased binding to ptk2/fak1; when associated with a-127. |
| 140 | no effect on binding to src. |
| 194 | no effect on binding to src. |
| 228 | no effect on binding to src. does not abolish phosphorylation by src. abolishes phosphorylation by src; when associated |
| 246 | abolishes binding to src. does not abolish phosphorylation by src. abolishes phosphorylation by src; when associated wit |
| 276–279 | enhanced translation of mrnas containing poly-a leaders. |
| 278 | enhanced translation of mrnas containing poly-a leaders. |
| 302 | no effect on binding to src. abolishes phosphorylation by src; when associated with f-228 and f-246. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-5357905 | Regulation of TNFR1 signaling |
| R-HSA-5357956 | TNFR1-induced NF-kappa-B signaling pathway |
| R-HSA-5626978 | TNFR1-mediated ceramide production |
| R-HSA-9766229 | Degradation of CDH1 |
MSigDB gene sets: 533 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_CYTOPLASMIC_TRANSLATION, GOBP_MEMBRANE_DEPOLARIZATION, HONMA_DOCETAXEL_RESISTANCE, GOBP_REGULATION_OF_PROTEASOMAL_UBIQUITIN_DEPENDENT_PROTEIN_CATABOLIC_PROCESS, GOBP_REGULATION_OF_PROTEIN_BINDING, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_REGULATION_OF_PHOSPHORYLATION, SWEET_KRAS_ONCOGENIC_SIGNATURE, MODULE_151, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GCM_NPM1, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH
GO Biological Process (38): positive regulation of protein phosphorylation (GO:0001934), cytoplasmic translation (GO:0002181), gastrulation (GO:0007369), negative regulation of gene expression (GO:0010629), protein ubiquitination (GO:0016567), negative regulation of translation (GO:0017148), negative regulation of Wnt signaling pathway (GO:0030178), negative regulation of cell growth (GO:0030308), positive regulation of cell migration (GO:0030335), positive regulation of protein-containing complex assembly (GO:0031334), negative regulation of protein binding (GO:0032091), positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436), regulation of protein localization (GO:0032880), positive regulation of Golgi to plasma membrane protein transport (GO:0042998), positive regulation of apoptotic process (GO:0043065), pigmentation (GO:0043473), positive regulation of GTPase activity (GO:0043547), negative regulation of smoothened signaling pathway (GO:0045879), rhythmic process (GO:0048511), negative regulation of phagocytosis (GO:0050765), regulation of cell division (GO:0051302), regulation of cell cycle (GO:0051726), negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898), positive regulation of mitochondrial depolarization (GO:0051901), cellular response to glucose stimulus (GO:0071333), cellular response to growth factor stimulus (GO:0071363), rescue of stalled cytosolic ribosome (GO:0072344), regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0106070), negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102), negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide (GO:1903751), regulation of establishment of cell polarity (GO:2000114), positive regulation of gastrulation (GO:2000543), negative regulation of translational frameshifting (GO:2001125), positive regulation of intrinsic apoptotic signaling pathway (GO:2001244), RNA processing (GO:0006396), translation (GO:0006412), regulation of translation (GO:0006417), apoptotic process (GO:0006915)
GO Molecular Function (22): RNA binding (GO:0003723), protein kinase C binding (GO:0005080), signaling receptor binding (GO:0005102), enzyme activator activity (GO:0008047), ion channel inhibitor activity (GO:0008200), cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656), enzyme binding (GO:0019899), protein phosphatase binding (GO:0019903), protein serine/threonine kinase inhibitor activity (GO:0030291), protein tyrosine kinase inhibitor activity (GO:0030292), cyclin binding (GO:0030332), receptor tyrosine kinase binding (GO:0030971), signaling adaptor activity (GO:0035591), SH2 domain binding (GO:0042169), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), ribosome binding (GO:0043022), translation regulator activity (GO:0045182), cadherin binding (GO:0045296), BH3 domain binding (GO:0051434), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)
GO Cellular Component (23): phagocytic cup (GO:0001891), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), small ribosomal subunit (GO:0015935), cytosolic small ribosomal subunit (GO:0022627), dendrite (GO:0030425), midbody (GO:0030496), neuronal cell body (GO:0043025), perikaryon (GO:0043204), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), IRE1-RACK1-PP2A complex (GO:1990630), nucleolus (GO:0005730), ribosome (GO:0005840), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995), neuron projection (GO:0043005), cell body (GO:0044297), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| TNF signaling | 3 |
| Regulation of CDH1 Function | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 9 |
| protein binding | 5 |
| cytoplasm | 3 |
| translation | 2 |
| regulation of translation | 2 |
| negative regulation of signal transduction | 2 |
| biological_process | 2 |
| protein kinase inhibitor activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| regulation of protein phosphorylation | 1 |
| protein phosphorylation | 1 |
| positive regulation of protein modification process | 1 |
| positive regulation of phosphorylation | 1 |
| ectoderm formation | 1 |
| endoderm formation | 1 |
| mesoderm formation | 1 |
| embryonic morphogenesis | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| protein modification by small protein conjugation | 1 |
| negative regulation of gene expression | 1 |
| negative regulation of protein metabolic process | 1 |
| Wnt signaling pathway | 1 |
| regulation of Wnt signaling pathway | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| negative regulation of growth | 1 |
| negative regulation of cellular process | 1 |
| cell migration | 1 |
| regulation of cell migration | 1 |
| positive regulation of cell motility | 1 |
| regulation of protein-containing complex assembly | 1 |
| positive regulation of cellular component biogenesis | 1 |
| positive regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| regulation of protein binding | 1 |
| negative regulation of binding | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
403 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RACK1 | LARP4B | psi-mi:“MI:0915”(physical association) | 0.880 |
| MAPK14 | OBSL1 | psi-mi:“MI:0914”(association) | 0.790 |
| RACK1 | HELZ | psi-mi:“MI:0914”(association) | 0.770 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| FBXW2 | RACK1 | psi-mi:“MI:0915”(physical association) | 0.680 |
| FBXW2 | RACK1 | psi-mi:“MI:0403”(colocalization) | 0.680 |
| FBXW2 | RACK1 | psi-mi:“MI:0914”(association) | 0.680 |
| RACK1 | USP10 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RACK1 | BYSL | psi-mi:“MI:0915”(physical association) | 0.670 |
| NCBP1 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| NCBP2 | KPNA3 | psi-mi:“MI:0914”(association) | 0.640 |
| RACK1 | DYNLL1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| RACK1 | DYNLL1 | psi-mi:“MI:0407”(direct interaction) | 0.630 |
| DYNLL1 | RACK1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| RACK1 | RPS17 | psi-mi:“MI:0915”(physical association) | 0.610 |
| ACTN2 | RACK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RACK1 | USP54 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (1074): GNB2L1 (Affinity Capture-MS), LARP4B (Two-hybrid), MKRN2 (Two-hybrid), GNB2L1 (Affinity Capture-MS), SYN2 (Affinity Capture-Western), JAK1 (Affinity Capture-Western), GNB2L1 (Affinity Capture-MS), GNB2L1 (Affinity Capture-MS), GNB2L1 (Affinity Capture-MS), GNB2L1 (Affinity Capture-MS), GNB2L1 (Affinity Capture-MS), GNB2L1 (Affinity Capture-MS), GNB2L1 (Affinity Capture-MS), GNB2L1 (Reconstituted Complex), LARP4 (Affinity Capture-MS)
ESM2 similar proteins: A0A223GEB2, G1SJB4, G4MQX3, O18640, O24076, O24456, O35353, O42248, O42249, P16520, P17343, P23232, P25387, P26308, P29387, P38011, P46800, P49026, P49027, P52287, P54311, P62871, P63243, P63244, P63245, P63246, P63247, P68040, P69103, P69104, P79147, P83774, P93340, Q01369, Q08706, Q10281, Q20636, Q21215, Q25189, Q39336
Diamond homologs: A0A223GEB2, A1L271, A2QPZ4, A4R3M4, A6H603, A6RRD4, B2VWG7, B3MHX6, B3MJV8, B4GT01, B4JPT9, B5DG67, B8N9H4, C0S902, C1GB49, C4R6H3, C4YPI7, C5GVJ9, C5JD40, E3LB80, G0S8H7, G1SJB4, G4MQX3, O14775, O18640, O24076, O24456, O42248, O42249, O94527, P0CS34, P0CS35, P25382, P25387, P38011, P40968, P46800, P49026, P49027, P52287
SIGNOR signaling
12 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RACK1 | up-regulates | PTK7 | binding |
| ABL1 | up-regulates | RACK1 | phosphorylation |
| RACK1 | “down-regulates activity” | TRPM6 | binding |
| RACK1 | “up-regulates activity” | LARP4B | binding |
| RACK1 | “up-regulates activity” | PPP2CA | binding |
| RACK1 | “down-regulates quantity by destabilization” | CLEC1B | binding |
| RACK1 | “up-regulates activity” | “Elongin E3-Cul-5” | binding |
| GNAS | “down-regulates activity” | RACK1 | binding |
| JUN | “up-regulates quantity by expression” | RACK1 | |
| SRC | up-regulates | RACK1 | phosphorylation |
| RACK1 | “up-regulates activity” | PKC | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 164 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Nonsense-Mediated Decay (NMD) | 5 | 12.4× | 6e-03 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 7 | 8.8× | 3e-03 |
| Signaling by ROBO receptors | 6 | 7.9× | 7e-03 |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | 7 | 7.3× | 6e-03 |
| Regulation of expression of SLITs and ROBOs | 9 | 6.6× | 2e-03 |
| Infectious disease | 17 | 4.5× | 1e-04 |
| Metabolism of RNA | 10 | 4.4× | 6e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mRNA stabilization | 5 | 14.4× | 9e-03 |
| translation | 9 | 7.3× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1187 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:181237604:CTTA:C | donor_loss | 1.0000 |
| 5:181237605:TTA:T | donor_loss | 1.0000 |
| 5:181237606:TACCT:T | donor_loss | 1.0000 |
| 5:181237607:ACC:A | donor_loss | 1.0000 |
| 5:181237608:CCTGG:C | donor_gain | 1.0000 |
| 5:181238093:ACTC:A | donor_loss | 1.0000 |
| 5:181238094:CTCA:C | donor_loss | 1.0000 |
| 5:181238095:T:TA | donor_loss | 1.0000 |
| 5:181238096:CACC:C | donor_loss | 1.0000 |
| 5:181238097:A:AC | donor_gain | 1.0000 |
| 5:181238097:A:T | donor_loss | 1.0000 |
| 5:181238097:AC:A | donor_gain | 1.0000 |
| 5:181238098:C:A | donor_loss | 1.0000 |
| 5:181238098:C:CC | donor_gain | 1.0000 |
| 5:181238098:CC:C | donor_gain | 1.0000 |
| 5:181238235:CCATC:C | acceptor_gain | 1.0000 |
| 5:181238236:CATCC:C | acceptor_gain | 1.0000 |
| 5:181239481:GCTCA:G | donor_loss | 1.0000 |
| 5:181239482:CTCA:C | donor_loss | 1.0000 |
| 5:181239483:TCA:T | donor_loss | 1.0000 |
| 5:181239484:CACC:C | donor_loss | 1.0000 |
| 5:181239485:A:C | donor_loss | 1.0000 |
| 5:181239486:C:T | donor_loss | 1.0000 |
| 5:181239578:TCATC:T | acceptor_gain | 1.0000 |
| 5:181239579:CATC:C | acceptor_gain | 1.0000 |
| 5:181239579:CATCC:C | acceptor_gain | 1.0000 |
| 5:181239580:ATC:A | acceptor_gain | 1.0000 |
| 5:181239581:TC:T | acceptor_gain | 1.0000 |
| 5:181239582:CC:C | acceptor_gain | 1.0000 |
| 5:181239582:CCTAC:C | acceptor_loss | 1.0000 |
AlphaMissense
2068 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:181237003:A:G | W310R | 1.000 |
| 5:181237003:A:T | W310R | 1.000 |
| 5:181237008:C:G | R308P | 1.000 |
| 5:181237029:C:T | G301D | 1.000 |
| 5:181237030:C:G | G301R | 1.000 |
| 5:181237032:G:T | A300D | 1.000 |
| 5:181237035:A:G | F299S | 1.000 |
| 5:181237038:A:G | L298P | 1.000 |
| 5:181237038:A:T | L298Q | 1.000 |
| 5:181237613:C:A | G295V | 1.000 |
| 5:181237613:C:T | G295D | 1.000 |
| 5:181237614:C:A | G295C | 1.000 |
| 5:181237614:C:G | G295R | 1.000 |
| 5:181237623:A:G | S292P | 1.000 |
| 5:181237624:C:A | W291C | 1.000 |
| 5:181237624:C:G | W291C | 1.000 |
| 5:181237625:C:G | W291S | 1.000 |
| 5:181237626:A:G | W291R | 1.000 |
| 5:181237626:A:T | W291R | 1.000 |
| 5:181237629:C:G | A290P | 1.000 |
| 5:181237631:A:G | L289P | 1.000 |
| 5:181237639:G:C | C286W | 1.000 |
| 5:181237640:C:T | C286Y | 1.000 |
| 5:181237641:A:G | C286R | 1.000 |
| 5:181237712:T:A | E262V | 1.000 |
| 5:181237714:T:A | L261F | 1.000 |
| 5:181237714:T:G | L261F | 1.000 |
| 5:181237715:A:G | L261S | 1.000 |
| 5:181237718:T:A | D260V | 1.000 |
| 5:181237718:T:C | D260G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000466305 (5:181236534 T>C), RS1000509016 (5:181245802 G>A), RS1000515879 (5:181245022 C>A), RS1000522892 (5:181240033 G>A,C), RS1000755576 (5:181244778 G>A), RS1001023217 (5:181240915 G>A,C), RS1001141054 (5:181236465 A>C), RS1001146823 (5:181244576 C>G), RS1001718850 (5:181241395 A>C), RS1001803648 (5:181243972 T>C), RS1002026664 (5:181237214 G>C,T), RS1002028942 (5:181242282 G>C), RS1002096335 (5:181238537 G>A), RS1002131846 (5:181241728 T>C), RS1002573161 (5:181237993 G>A)
Disease associations
OMIM: gene MIM:176981 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal dominant |
| Tourette syndrome | Limited | Unknown |
Mondo (2): neurodevelopmental disorder (MONDO:0700092), Tourette syndrome (MONDO:0007661)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
| 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): CHEMBL5725031 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.54 | Kd | 2871 | nM | CHEMBL3752910 |
| 5.54 | ED50 | 2871 | nM | CHEMBL3752910 |
PubChem BioAssay actives
1 with measured affinity, of 8 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148445: Binding affinity to human GNB2L1 incubated for 45 mins by Kinobead based pull down assay | kd | 2.8712 | uM |
CTD chemical–gene interactions
85 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 3 |
| Flutamide | increases expression, decreases reaction | 3 |
| Valproic Acid | decreases expression, increases methylation | 3 |
| bisphenol F | decreases expression, increases expression, affects cotreatment | 2 |
| arsenite | affects binding, increases reaction, increases methylation | 2 |
| sodium arsenite | decreases expression, increases activity | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 2 |
| Dehydroepiandrosterone | affects reaction, increases expression, decreases reaction | 2 |
| Lead | affects expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Quercetin | decreases expression, increases expression | 2 |
| Zinc Sulfate | affects expression, decreases expression | 2 |
| Particulate Matter | increases methylation, decreases expression, increases abundance | 2 |
| FR900359 | decreases phosphorylation | 1 |
| moringin | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| diethyl phthalate | decreases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, affects localization, increases expression | 1 |
| salinomycin | decreases expression | 1 |
| ferric ammonium citrate | decreases reaction, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| estradiol-bovine serum albumin | increases expression | 1 |
| testosterone-3-carboxymethyloxime-bovine serum albumin conjugate | increases expression | 1 |
| chloropicrin | affects expression | 1 |
| U 0126 | affects expression, affects reaction | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651487 | Binding | Binding affinity to human GNB2L1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00226824 | PHASE4 | TERMINATED | Safety Study of Galantamine in Tic Disorders |
| NCT00241176 | PHASE4 | COMPLETED | Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder |
| NCT00370838 | PHASE4 | COMPLETED | Comparison of Keppra and Clonidine in the Treatment of Tics |
| NCT01018056 | PHASE4 | COMPLETED | Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission |
| NCT01547000 | PHASE4 | COMPLETED | Guanfacine in Children With Tic Disorders |
| NCT03239210 | PHASE4 | COMPLETED | Effects of Ondansetron in Obsessive-compulsive and Tic Disorders |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT00004376 | PHASE3 | COMPLETED | Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder |
| NCT00206323 | PHASE3 | COMPLETED | A Randomized, Placebo-controlled, Tourette Syndrome Study. |
| NCT00206336 | PHASE3 | COMPLETED | An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome. |
| NCT00478842 | PHASE3 | COMPLETED | Pallidal Stimulation and Gilles de la Tourette Syndrome |
| NCT00681863 | PHASE3 | TERMINATED | Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome |
| NCT01501695 | PHASE3 | COMPLETED | Phase III Study of 5LGr to Treat Tic Disorder |
| NCT03087201 | PHASE3 | COMPLETED | CANNAbinoids in the Treatment of TICS (CANNA-TICS) |
| NCT03487783 | PHASE3 | COMPLETED | Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome |
| NCT03567291 | PHASE3 | TERMINATED | Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents |
| NCT03571256 | PHASE3 | COMPLETED | A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS) |
| NCT06021522 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00004393 | PHASE2 | COMPLETED | Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome |
| NCT00004652 | PHASE2 | COMPLETED | Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome |
| NCT00231985 | PHASE2 | COMPLETED | Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder |
| NCT00311909 | PHASE2 | COMPLETED | Thalamic Deep Brain Stimulation for Tourette Syndrome |
| NCT00529308 | PHASE2 | COMPLETED | Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome |
| NCT00558467 | PHASE2 | COMPLETED | Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria |
| NCT01043549 | PHASE2 | TERMINATED | Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome |
| NCT01133353 | PHASE2 | WITHDRAWN | A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome |
| NCT01475383 | PHASE2 | WITHDRAWN | Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome |
| NCT01647269 | PHASE2 | COMPLETED | A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome |
| NCT01904773 | PHASE2 | COMPLETED | Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder |
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Related Atlas pages
- Associated diseases: neurodevelopmental disorder, Tourette syndrome