STRIP2
gene geneOn this page
Also known as KIAA1170FAR11B
Summary
STRIP2 (striatin interacting protein 2, HGNC:22209) is a protein-coding gene on chromosome 7q32.1, encoding Striatin-interacting protein 2 (Q9ULQ0). Plays a role in the regulation of cell morphology and cytoskeletal organization.
Involved in cell migration; cytoskeleton organization; and regulation of cell shape. Located in cytosol. Part of FAR/SIN/STRIPAK complex.
Source: NCBI Gene 57464 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- Clinical variants (ClinVar): 110 total — 1 pathogenic
- MANE Select transcript:
NM_020704
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22209 |
| Approved symbol | STRIP2 |
| Name | striatin interacting protein 2 |
| Location | 7q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1170, FAR11B |
| Ensembl gene | ENSG00000128578 |
| Ensembl biotype | protein_coding |
| OMIM | 617919 |
| Entrez | 57464 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000249344, ENST00000435494, ENST00000465033, ENST00000889796, ENST00000947594
RefSeq mRNA: 2 — MANE Select: NM_020704
NM_001134336, NM_020704
CCDS: CCDS34752, CCDS47709
Canonical transcript exons
ENST00000249344 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000722828 | 129453227 | 129453347 |
| ENSE00000722830 | 129454142 | 129454210 |
| ENSE00000722832 | 129454421 | 129454527 |
| ENSE00000722835 | 129455244 | 129455371 |
| ENSE00000882353 | 129440022 | 129440091 |
| ENSE00000882354 | 129444024 | 129444098 |
| ENSE00000882355 | 129451613 | 129451747 |
| ENSE00000882356 | 129456439 | 129456642 |
| ENSE00000882357 | 129458215 | 129458450 |
| ENSE00000882359 | 129460301 | 129460372 |
| ENSE00001207264 | 129485579 | 129488399 |
| ENSE00001712110 | 129434432 | 129434601 |
| ENSE00002437309 | 129480785 | 129480889 |
| ENSE00002455807 | 129467350 | 129467450 |
| ENSE00002490470 | 129464612 | 129464738 |
| ENSE00002502386 | 129482842 | 129483046 |
| ENSE00002503875 | 129470649 | 129470715 |
| ENSE00002513797 | 129462966 | 129463040 |
| ENSE00002518586 | 129464044 | 129464141 |
| ENSE00003544470 | 129459517 | 129459580 |
| ENSE00003584822 | 129458712 | 129458777 |
Expression profiles
Bgee: expression breadth ubiquitous, 208 present calls, max score 95.11.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6769 / max 282.4853, expressed in 1291 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 81034 | 8.5017 | 1282 |
| 81033 | 0.1752 | 69 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 95.11 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.65 | gold quality |
| quadriceps femoris | UBERON:0001377 | 92.52 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.70 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.38 | gold quality |
| deltoid | UBERON:0001476 | 91.11 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.99 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 90.84 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.70 | gold quality |
| putamen | UBERON:0001874 | 90.56 | gold quality |
| biceps brachii | UBERON:0001507 | 90.24 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.10 | gold quality |
| right testis | UBERON:0004534 | 89.34 | gold quality |
| left testis | UBERON:0004533 | 88.95 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 88.84 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.80 | gold quality |
| muscle of leg | UBERON:0001383 | 88.76 | gold quality |
| muscle tissue | UBERON:0002385 | 87.28 | gold quality |
| cartilage tissue | UBERON:0002418 | 86.73 | gold quality |
| heart right ventricle | UBERON:0002080 | 86.37 | gold quality |
| testis | UBERON:0000473 | 86.17 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 85.54 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 85.26 | gold quality |
| myocardium | UBERON:0002349 | 83.35 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.79 | gold quality |
| heart left ventricle | UBERON:0002084 | 82.46 | gold quality |
| cardiac ventricle | UBERON:0002082 | 82.36 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.30 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.24 | gold quality |
| cerebellum | UBERON:0002037 | 81.55 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 326.89 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting STRIP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-1251-3P | 99.64 | 67.21 | 1408 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-888-3P | 99.53 | 69.77 | 1057 |
| HSA-MIR-409-3P | 99.50 | 66.33 | 1192 |
| HSA-MIR-203A-3P | 99.49 | 70.56 | 2806 |
| HSA-MIR-12131 | 99.48 | 68.72 | 1673 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-3978 | 99.24 | 68.39 | 2201 |
| HSA-MIR-2054 | 99.20 | 68.89 | 1699 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-452-3P | 99.01 | 66.25 | 1241 |
Literature-anchored findings (GeneRIF, showing 6)
- this study propose that the STRIPAK complex, FAM40A, FAM40B and STRN3, regulates the mode of cancer cell migration by controlling the activity of MST3 and 4, which locally coordinate the phosphorylation of ERM proteins and inhibit the dephosphorylation of MLC leading to increased actin-membrane linkage. (PMID:25531779)
- Data indicate that a cardiac protein named Myoscape/FAM40B/STRIP2, which directly interacts with the L-type calcium channel CaV1.2. (PMID:27122098)
- These results demonstrate the importance of the FAM40 proteins for endothelial cell physiology, and suggest that they act as part of the CCM3-containing STRIPAK complex. (PMID:30509168)
- STRIP2, a member of the striatin-interacting phosphatase and kinase complex, is implicated in lung adenocarcinoma cell growth and migration. (PMID:31901223)
- STRIP2 motivates non-small cell lung cancer progression by modulating the TMBIM6 stability through IGF2BP3 dependent. (PMID:36639675)
- STRIP2 is regulated by the transcription factor Sp1 and promotes lung adenocarcinoma progression via activating the PI3K/AKT/mTOR/MYC signaling pathway. (PMID:39191354)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | strip2 | ENSDARG00000059003 |
| mus_musculus | Strip2 | ENSMUSG00000039629 |
| rattus_norvegicus | Strip2 | ENSRNOG00000057729 |
| drosophila_melanogaster | Strip | FBGN0035437 |
| caenorhabditis_elegans | WBGENE00017349 |
Paralogs (1): STRIP1 (ENSG00000143093)
Protein
Protein identifiers
Striatin-interacting protein 2 — Q9ULQ0 (reviewed: Q9ULQ0)
Alternative names: Protein FAM40B
All UniProt accessions (1): Q9ULQ0
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation.
Subunit / interactions. Part of the core of STRIPAK complexes composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26. Interacts with CTTNBP2NL.
Subcellular location. Cytoplasm.
Similarity. Belongs to the STRIP family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULQ0-1 | 1 | yes |
| Q9ULQ0-2 | 2 |
RefSeq proteins (2): NP_001127808, NP_065755* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012486 | Far11/STRP_N | Domain |
| IPR021819 | Far11/STRP_C | Domain |
| IPR040185 | Far11/STRP | Family |
Pfam: PF07923, PF11882
UniProt features (13 total): region of interest 3, compositionally biased region 3, modified residue 3, splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULQ0-F1 | 79.68 | 0.51 |
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 (3): 318, 329, 354
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (3): cytoskeleton organization (GO:0007010), regulation of cell shape (GO:0008360), cell migration (GO:0016477)
GO Molecular Function (0):
GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), FAR/SIN/STRIPAK complex (GO:0090443)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| organelle organization | 1 |
| regulation of cell morphogenesis | 1 |
| regulation of biological quality | 1 |
| cell motility | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
500 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| STRIP2 | MOB4 | Q9Y3A3 | 981 |
| STRIP2 | STRN | O43815 | 975 |
| STRIP2 | PDCD10 | Q9BUL8 | 942 |
| STRIP2 | PPP2CA | P05323 | 882 |
| STRIP2 | PPP2R1A | P30153 | 876 |
| STRIP2 | STK25 | O00506 | 853 |
| STRIP2 | STRN3 | Q13033 | 812 |
| STRIP2 | STRN4 | Q9NRL3 | 804 |
| STRIP2 | SLMAP | Q14BN4 | 801 |
| STRIP2 | STK26 | Q9P289 | 799 |
| STRIP2 | SIKE1 | Q9BRV8 | 782 |
| STRIP2 | STK24 | Q9Y6E0 | 767 |
| STRIP2 | CTTNBP2 | Q8WZ74 | 669 |
| STRIP2 | STRIP1 | Q5VSL9 | 649 |
| STRIP2 | CTTNBP2NL | Q9P2B4 | 612 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK25 | STRN | psi-mi:“MI:0914”(association) | 0.900 |
| STK24 | STK25 | psi-mi:“MI:0914”(association) | 0.890 |
| PPP2R1A | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| PPP2R1A | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| STRN3 | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| CTTNBP2NL | STK25 | psi-mi:“MI:0914”(association) | 0.880 |
| STRN3 | STRN | psi-mi:“MI:0914”(association) | 0.880 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| STK26 | STRN | psi-mi:“MI:0914”(association) | 0.860 |
| PRDM14 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.860 |
| STRIP1 | STK25 | psi-mi:“MI:0914”(association) | 0.840 |
| PPP2CB | STRN | psi-mi:“MI:0914”(association) | 0.790 |
| MOB4 | STRN | psi-mi:“MI:0914”(association) | 0.790 |
| STK26 | STK25 | psi-mi:“MI:0914”(association) | 0.790 |
| SIKE1 | SLMAP | psi-mi:“MI:0914”(association) | 0.770 |
| MOB4 | STK25 | psi-mi:“MI:0914”(association) | 0.730 |
| SIKE1 | STRN | psi-mi:“MI:0914”(association) | 0.730 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| SLMAP | STRN | psi-mi:“MI:0914”(association) | 0.710 |
| PRDM14 | CBFA2T2 | psi-mi:“MI:0914”(association) | 0.670 |
| CTTNBP2 | STK25 | psi-mi:“MI:0914”(association) | 0.640 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (78): STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS), STRIP2 (Affinity Capture-MS)
ESM2 similar proteins: A0A4X1TB62, A4VCH4, G3V7Q0, O14795, O35841, O43237, O70585, P23116, P48553, Q0P5J8, Q14152, Q15542, Q1JU68, Q3TLI0, Q3UHE1, Q4R5P6, Q5R660, Q5R7S4, Q5R7U7, Q5RE09, Q5RE70, Q5VSL9, Q5XI83, Q658Y4, Q68E01, Q6IQ26, Q6PAL8, Q6PDL0, Q6TEP1, Q6WKZ8, Q7SYD9, Q7TPD0, Q8BIK4, Q8BWQ6, Q8C079, Q8C092, Q8C9H6, Q8CBY8, Q8IWV8, Q8K400
Diamond homologs: Q0P5J8, Q5R7S4, Q5VSL9, Q803T2, Q8C079, Q8C9H6, Q9GLZ5, Q9ULQ0, O13665, Q54IL2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 44 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 |
|---|---|---|---|
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 5 | 23.3× | 8e-05 |
| EML4 and NUDC in mitotic spindle formation | 5 | 18.6× | 9e-05 |
| Resolution of Sister Chromatid Cohesion | 5 | 17.3× | 1e-04 |
| RHO GTPases Activate Formins | 5 | 15.5× | 2e-04 |
| Mitotic Prometaphase | 5 | 13.8× | 3e-04 |
| Separation of Sister Chromatids | 5 | 12.2× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of hippo signaling | 7 | 129.3× | 2e-11 |
| protein autophosphorylation | 5 | 19.1× | 4e-04 |
| protein phosphorylation | 7 | 12.5× | 2e-04 |
| intracellular signal transduction | 8 | 8.0× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
110 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 98 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1527394 | GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) | Pathogenic |
SpliceAI
3773 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:129434597:CAGAG:C | donor_loss | 1.0000 |
| 7:129434598:AGAGG:A | donor_loss | 1.0000 |
| 7:129434599:GAG:G | donor_gain | 1.0000 |
| 7:129434600:AGG:A | donor_loss | 1.0000 |
| 7:129434601:GGTG:G | donor_loss | 1.0000 |
| 7:129434602:GT:G | donor_loss | 1.0000 |
| 7:129434603:T:G | donor_loss | 1.0000 |
| 7:129451611:A:AG | acceptor_gain | 1.0000 |
| 7:129451612:G:GA | acceptor_gain | 1.0000 |
| 7:129451612:GT:G | acceptor_gain | 1.0000 |
| 7:129451744:CAAGG:C | donor_loss | 1.0000 |
| 7:129451745:AAGGT:A | donor_loss | 1.0000 |
| 7:129451746:AGGTG:A | donor_loss | 1.0000 |
| 7:129451747:GGT:G | donor_loss | 1.0000 |
| 7:129451748:G:C | donor_loss | 1.0000 |
| 7:129451748:G:GG | donor_gain | 1.0000 |
| 7:129451749:T:G | donor_loss | 1.0000 |
| 7:129453340:GAAAT:G | donor_gain | 1.0000 |
| 7:129453344:T:G | donor_gain | 1.0000 |
| 7:129453344:T:TG | donor_gain | 1.0000 |
| 7:129453346:GA:G | donor_gain | 1.0000 |
| 7:129453348:G:GG | donor_gain | 1.0000 |
| 7:129454136:T:TA | acceptor_gain | 1.0000 |
| 7:129454137:G:A | acceptor_gain | 1.0000 |
| 7:129454138:GCA:G | acceptor_loss | 1.0000 |
| 7:129454139:CA:C | acceptor_loss | 1.0000 |
| 7:129454140:A:AG | acceptor_gain | 1.0000 |
| 7:129454140:A:C | acceptor_loss | 1.0000 |
| 7:129454141:G:GA | acceptor_gain | 1.0000 |
| 7:129454141:GCA:G | acceptor_gain | 1.0000 |
AlphaMissense
5483 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:129458755:T:C | F440L | 1.000 |
| 7:129458757:C:A | F440L | 1.000 |
| 7:129458757:C:G | F440L | 1.000 |
| 7:129459540:T:C | L455S | 1.000 |
| 7:129482854:T:C | F688L | 1.000 |
| 7:129482856:T:A | F688L | 1.000 |
| 7:129482856:T:G | F688L | 1.000 |
| 7:129482857:A:G | K689E | 1.000 |
| 7:129482858:A:T | K689I | 1.000 |
| 7:129482859:A:C | K689N | 1.000 |
| 7:129482859:A:T | K689N | 1.000 |
| 7:129482953:G:A | G721R | 1.000 |
| 7:129482953:G:C | G721R | 1.000 |
| 7:129482954:G:A | G721E | 1.000 |
| 7:129482956:C:A | R722S | 1.000 |
| 7:129482962:T:A | W724R | 1.000 |
| 7:129482962:T:C | W724R | 1.000 |
| 7:129482964:G:C | W724C | 1.000 |
| 7:129482964:G:T | W724C | 1.000 |
| 7:129482966:G:C | R725T | 1.000 |
| 7:129482966:G:T | R725M | 1.000 |
| 7:129482967:G:C | R725S | 1.000 |
| 7:129482967:G:T | R725S | 1.000 |
| 7:129483031:T:A | W747R | 1.000 |
| 7:129483031:T:C | W747R | 1.000 |
| 7:129483033:G:C | W747C | 1.000 |
| 7:129483033:G:T | W747C | 1.000 |
| 7:129485767:T:A | W815R | 1.000 |
| 7:129485767:T:C | W815R | 1.000 |
| 7:129485771:T:C | L816P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000001238 (7:129440456 T>A), RS1000014712 (7:129439361 T>A), RS1000119000 (7:129454689 G>A), RS1000195978 (7:129451062 A>G,T), RS1000222626 (7:129446619 A>G), RS1000284331 (7:129481633 C>T), RS1000347507 (7:129483124 C>G,T), RS1000437738 (7:129435498 A>G), RS1000451180 (7:129439007 T>C), RS1000525758 (7:129445381 G>C), RS1000558340 (7:129444921 C>T), RS1000570630 (7:129477106 G>A,T), RS1000608358 (7:129483903 G>A), RS1000682607 (7:129484993 C>T), RS1000683877 (7:129436697 A>G)
Disease associations
OMIM: gene MIM:617919 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (1): Tourette syndrome (MONDO:0007661)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005879 | Tourette Syndrome | C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | affects cotreatment, decreases expression | 3 |
| Valproic Acid | affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Demecolcine | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Oxygen | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases expression | 1 |
Clinical trials (associated diseases)
183 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00226824 | PHASE4 | TERMINATED | Safety Study of Galantamine in Tic Disorders |
| NCT00241176 | PHASE4 | COMPLETED | Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder |
| NCT00370838 | PHASE4 | COMPLETED | Comparison of Keppra and Clonidine in the Treatment of Tics |
| NCT01018056 | PHASE4 | COMPLETED | Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission |
| NCT01547000 | PHASE4 | COMPLETED | Guanfacine in Children With Tic Disorders |
| NCT03239210 | PHASE4 | COMPLETED | Effects of Ondansetron in Obsessive-compulsive and Tic Disorders |
| NCT00004376 | PHASE3 | COMPLETED | Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder |
| NCT00206323 | PHASE3 | COMPLETED | A Randomized, Placebo-controlled, Tourette Syndrome Study. |
| NCT00206336 | PHASE3 | COMPLETED | An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome. |
| NCT00478842 | PHASE3 | COMPLETED | Pallidal Stimulation and Gilles de la Tourette Syndrome |
| NCT00681863 | PHASE3 | TERMINATED | Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome |
| NCT01501695 | PHASE3 | COMPLETED | Phase III Study of 5LGr to Treat Tic Disorder |
| NCT03087201 | PHASE3 | COMPLETED | CANNAbinoids in the Treatment of TICS (CANNA-TICS) |
| NCT03487783 | PHASE3 | COMPLETED | Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome |
| NCT03567291 | PHASE3 | TERMINATED | Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents |
| NCT03571256 | PHASE3 | COMPLETED | A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS) |
| NCT06021522 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder |
| NCT00004393 | PHASE2 | COMPLETED | Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome |
| NCT00004652 | PHASE2 | COMPLETED | Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome |
| NCT00231985 | PHASE2 | COMPLETED | Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder |
| NCT00311909 | PHASE2 | COMPLETED | Thalamic Deep Brain Stimulation for Tourette Syndrome |
| NCT00529308 | PHASE2 | COMPLETED | Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome |
| NCT00558467 | PHASE2 | COMPLETED | Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria |
| NCT01043549 | PHASE2 | TERMINATED | Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome |
| NCT01133353 | PHASE2 | WITHDRAWN | A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome |
| NCT01475383 | PHASE2 | WITHDRAWN | Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome |
| NCT01647269 | PHASE2 | COMPLETED | A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome |
| NCT01904773 | PHASE2 | COMPLETED | Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder |
| NCT02102698 | PHASE2 | COMPLETED | Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years |
| NCT02217007 | PHASE2 | WITHDRAWN | A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome |
| NCT02247206 | PHASE2 | COMPLETED | VoIP Delivered Behavior Therapy for Tourette Syndrome |
| NCT02581865 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome |
| NCT02619084 | PHASE2 | COMPLETED | Subthalamic Stimulation in Tourette’s Syndrome |
| NCT02679079 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome |
| NCT02879578 | PHASE2 | COMPLETED | Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome |
| NCT03066193 | PHASE2 | COMPLETED | Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome |
| NCT03247244 | PHASE2 | TERMINATED | Safety and Efficacy of Cannabis in Tourette Syndrome |
| NCT03325010 | PHASE2 | COMPLETED | Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
| NCT03444038 | PHASE2 | COMPLETED | Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
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