SYNDIG1
gene geneOn this page
Also known as FLJ14220IFITMD5DSPC2
Summary
SYNDIG1 (synapse differentiation inducing 1, HGNC:15885) is a protein-coding gene on chromosome 20p11.21, encoding Synapse differentiation-inducing gene protein 1 (Q9H7V2). May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation.
This gene encodes a protein that belongs to the interferon-induced transmembrane family of proteins. A similar protein in rat is thought to regulate the development of excitatory synapses.
Source: NCBI Gene 79953 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 2
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_024893
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15885 |
| Approved symbol | SYNDIG1 |
| Name | synapse differentiation inducing 1 |
| Location | 20p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ14220, IFITMD5, DSPC2 |
| Ensembl gene | ENSG00000101463 |
| Ensembl biotype | protein_coding |
| OMIM | 614311 |
| Entrez | 79953 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 16 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000376862, ENST00000482637, ENST00000892834, ENST00000892835, ENST00000892836, ENST00000892837, ENST00000920527, ENST00000920528, ENST00000920529, ENST00000959354, ENST00000959355, ENST00000959356, ENST00000959357, ENST00000959358, ENST00000959359, ENST00000959360, ENST00000959361
RefSeq mRNA: 3 — MANE Select: NM_024893
NM_001323606, NM_001323607, NM_024893
CCDS: CCDS13164
Canonical transcript exons
ENST00000376862 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000660955 | 24584856 | 24584993 |
| ENSE00001129091 | 24469629 | 24469753 |
| ENSE00001471968 | 24665346 | 24666616 |
| ENSE00001471984 | 24543020 | 24543577 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 93.50.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3229 / max 100.0524, expressed in 555 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183899 | 1.8179 | 376 |
| 183897 | 0.7106 | 224 |
| 183895 | 0.3587 | 184 |
| 183898 | 0.2885 | 145 |
| 183900 | 0.0885 | 60 |
| 183896 | 0.0587 | 27 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| C1 segment of cervical spinal cord | UBERON:0006469 | 93.50 | gold quality |
| spinal cord | UBERON:0002240 | 92.87 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.46 | gold quality |
| cerebellar vermis | UBERON:0004720 | 91.41 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.32 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.90 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.73 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.27 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.24 | gold quality |
| frontal cortex | UBERON:0001870 | 90.16 | gold quality |
| cerebellum | UBERON:0002037 | 89.94 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.78 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.76 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 89.70 | gold quality |
| cardiac atrium | UBERON:0002081 | 89.65 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 89.48 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.43 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.34 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.30 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 89.29 | gold quality |
| neocortex | UBERON:0001950 | 89.23 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 89.04 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.38 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.29 | gold quality |
| cingulate cortex | UBERON:0003027 | 88.25 | gold quality |
| endothelial cell | CL:0000115 | 87.79 | gold quality |
| heart left ventricle | UBERON:0002084 | 87.77 | gold quality |
| occipital lobe | UBERON:0002021 | 87.53 | gold quality |
| cardiac ventricle | UBERON:0002082 | 87.52 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.26 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 14.95 |
| E-HCAD-35 | yes | 12.82 |
| E-ANND-3 | no | 2.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
63 targeting SYNDIG1, 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-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-1179 | 99.71 | 68.70 | 1040 |
| HSA-MIR-7157-5P | 99.66 | 69.33 | 1829 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000100751 | ||
| mus_musculus | Syndig1 | ENSMUSG00000074736 |
| rattus_norvegicus | Syndig1 | ENSRNOG00000031536 |
Paralogs (3): TMEM91 (ENSG00000142046), SYNDIG1L (ENSG00000183379), PMIS2 (ENSG00000283758)
Protein
Protein identifiers
Synapse differentiation-inducing gene protein 1 — Q9H7V2 (reviewed: Q9H7V2)
Alternative names: Dispanin subfamily C member 2, Transmembrane protein 90B
All UniProt accessions (1): Q9H7V2
UniProt curated annotations — full annotation on UniProt →
Function. May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation.
Subunit / interactions. Homodimer. Interacts with GRIA1 and GRIA2.
Subcellular location. Cell membrane. Early endosome membrane. Postsynaptic density membrane. Synapse. Cell projection. Dendrite. Dendritic spine.
Similarity. Belongs to the CD225/Dispanin family.
RefSeq proteins (3): NP_001310535, NP_001310536, NP_079169* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007593 | CD225/Dispanin_fam | Family |
Pfam: PF04505
UniProt features (8 total): topological domain 3, chain 1, transmembrane region 1, intramembrane region 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H7V2-F1 | 53.91 | 0.03 |
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 (1): 137
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 115 (showing top):
GOBP_SYNAPTIC_VESICLE_LOCALIZATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_VESICLE_LOCALIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_SYNAPSE_ASSEMBLY, ZHAN_MULTIPLE_MYELOMA_MF_UP, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION
GO Biological Process (4): intracellular protein transport (GO:0006886), positive regulation of synapse assembly (GO:0051965), synaptic vesicle clustering (GO:0097091), regulation of postsynapse assembly (GO:0150052)
GO Molecular Function (3): glutamate receptor binding (GO:0035254), protein homodimerization activity (GO:0042803), protein binding (GO:0005515)
GO Cellular Component (16): plasma membrane (GO:0005886), postsynaptic density (GO:0014069), synaptic vesicle membrane (GO:0030672), early endosome membrane (GO:0031901), dendritic spine (GO:0043197), dendritic shaft (GO:0043198), cell body (GO:0044297), excitatory synapse (GO:0060076), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), endosome (GO:0005768), membrane (GO:0016020), dendrite (GO:0030425), cell projection (GO:0042995), synapse (GO:0045202), postsynaptic membrane (GO:0045211)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| regulation of synapse assembly | 2 |
| dendrite | 2 |
| postsynapse | 2 |
| synapse | 2 |
| intracellular protein localization | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| synapse assembly | 1 |
| positive regulation of nervous system development | 1 |
| positive regulation of cell junction assembly | 1 |
| synaptic vesicle localization | 1 |
| synaptic vesicle cycle | 1 |
| postsynapse assembly | 1 |
| regulation of postsynapse organization | 1 |
| signaling receptor binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| synaptic vesicle | 1 |
| exocytic vesicle membrane | 1 |
| early endosome | 1 |
| endosome membrane | 1 |
| neuron spine | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| cell junction | 1 |
| synaptic membrane | 1 |
Protein interactions and networks
STRING
936 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SYNDIG1 | GRIA1 | P42261 | 748 |
| SYNDIG1 | SHISA9 | B4DS77 | 705 |
| SYNDIG1 | CNIH2 | Q6PI25 | 701 |
| SYNDIG1 | GSG1L | Q6UXU4 | 689 |
| SYNDIG1 | GRIA2 | P42262 | 685 |
| SYNDIG1 | CNIH4 | Q9P003 | 624 |
| SYNDIG1 | CNIH1 | O95406 | 614 |
| SYNDIG1 | GSG1L2 | A8MUP6 | 611 |
| SYNDIG1 | CNIH3 | Q8TBE1 | 582 |
| SYNDIG1 | PRRT2 | Q7Z6L0 | 565 |
| SYNDIG1 | TRARG1 | Q8IXB3 | 554 |
| SYNDIG1 | GRIA4 | P48058 | 541 |
| SYNDIG1 | TMEM233 | B4DJY2 | 513 |
| SYNDIG1 | CACNG8 | Q8WXS5 | 478 |
| SYNDIG1 | CACNG2 | Q9Y698 | 464 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FATE1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SYNDIG1 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MFSD6 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UNC93B1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC41A1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNDIG1 | GPRC5D | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAL | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM43 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LEPROTL1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNDIG1 | SLC35C2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ELOVL4 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLCD4 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FFAR2 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC16A13 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR42 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SYNDIG1 | SCAMP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SYNDIG1 | FATE1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TMEM43 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| LEPROTL1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MFSD6 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| UNC93B1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| SLC41A1 | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| GPRC5D | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| MAL | SYNDIG1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): FATE1 (Two-hybrid), HADHB (Affinity Capture-MS), SYNDIG1 (Two-hybrid), SYNDIG1 (Two-hybrid), LEPROTL1 (Two-hybrid), UNC93B1 (Two-hybrid), GPRC5D (Two-hybrid), ELOVL4 (Two-hybrid), GPR42 (Two-hybrid), FFAR2 (Two-hybrid), SLC41A1 (Two-hybrid), FATE1 (Two-hybrid), MFSD6 (Two-hybrid), TMEM56 (Two-hybrid), TMEM43 (Two-hybrid)
ESM2 similar proteins: A0JMD2, A2ANU3, A7J1T0, A7J1T2, B0S6S9, D3ZJ47, F1M5M3, F1MJR8, M0R5D6, O14544, O43283, P57773, Q02223, Q06190, Q08DM6, Q14CH0, Q1HKZ5, Q1X8D7, Q2PFD7, Q3TEL6, Q3UVY1, Q4R532, Q58DZ9, Q5R8X7, Q5RA75, Q5RCM6, Q5RD34, Q5RJX2, Q5SW75, Q5TZE2, Q5VUB5, Q60610, Q6IRN6, Q6NRK3, Q6P995, Q6PUR7, Q76I76, Q86SP6, Q8BIA3, Q8BQU7
Diamond homologs: A2ANU3, A4IFJ1, A6NDD5, O35449, Q08DM6, Q3USQ7, Q4R532, Q58DZ9, Q5TZE2, Q6MG82, Q6ZNR0, Q8C581, Q99946, Q9H7V2, A0A1B0GWB2, Q6DFT4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2551 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:24543490:G:GT | donor_gain | 1.0000 |
| 20:24543490:G:T | donor_gain | 1.0000 |
| 20:24543575:G:GT | donor_gain | 1.0000 |
| 20:24543585:GA:G | donor_gain | 1.0000 |
| 20:24584994:GTAA:G | donor_loss | 1.0000 |
| 20:24519258:T:TA | donor_gain | 0.9900 |
| 20:24519259:A:AA | donor_gain | 0.9900 |
| 20:24543015:TCCAG:T | acceptor_loss | 0.9900 |
| 20:24543016:CCAG:C | acceptor_loss | 0.9900 |
| 20:24543017:CAGGA:C | acceptor_loss | 0.9900 |
| 20:24543018:A:AG | acceptor_gain | 0.9900 |
| 20:24543019:G:GG | acceptor_gain | 0.9900 |
| 20:24543019:GGA:G | acceptor_gain | 0.9900 |
| 20:24543019:GGAGA:G | acceptor_gain | 0.9900 |
| 20:24543557:G:GT | donor_gain | 0.9900 |
| 20:24584840:T:A | acceptor_gain | 0.9900 |
| 20:24584850:TTGCA:T | acceptor_loss | 0.9900 |
| 20:24584852:GCA:G | acceptor_loss | 0.9900 |
| 20:24584853:CA:C | acceptor_loss | 0.9900 |
| 20:24584854:A:AC | acceptor_loss | 0.9900 |
| 20:24584854:AGAGC:A | acceptor_gain | 0.9900 |
| 20:24584855:GA:G | acceptor_gain | 0.9900 |
| 20:24584855:GAGC:G | acceptor_gain | 0.9900 |
| 20:24584855:GAGCG:G | acceptor_gain | 0.9900 |
| 20:24584991:GAG:G | donor_gain | 0.9900 |
| 20:24665336:A:AG | acceptor_gain | 0.9900 |
| 20:24665337:A:G | acceptor_gain | 0.9900 |
| 20:24665344:A:AG | acceptor_gain | 0.9900 |
| 20:24665345:G:GG | acceptor_gain | 0.9900 |
| 20:24469750:GGAG:G | donor_gain | 0.9800 |
AlphaMissense
1707 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:24584955:T:A | W194R | 1.000 |
| 20:24584955:T:C | W194R | 1.000 |
| 20:24584946:T:C | C191R | 0.999 |
| 20:24584949:T:C | C192R | 0.999 |
| 20:24584964:G:C | G197R | 0.999 |
| 20:24584965:G:A | G197D | 0.999 |
| 20:24665436:G:A | G237R | 0.999 |
| 20:24665436:G:C | G237R | 0.999 |
| 20:24665437:G:A | G237E | 0.999 |
| 20:24584928:A:C | S185R | 0.998 |
| 20:24584930:T:A | S185R | 0.998 |
| 20:24584930:T:G | S185R | 0.998 |
| 20:24584959:C:G | P195R | 0.998 |
| 20:24584974:C:A | A200D | 0.998 |
| 20:24665436:G:T | G237W | 0.998 |
| 20:24665442:G:C | G239R | 0.998 |
| 20:24665443:G:A | G239D | 0.998 |
| 20:24665454:G:C | G243R | 0.998 |
| 20:24665455:G:A | G243D | 0.998 |
| 20:24584932:T:A | V186D | 0.997 |
| 20:24584950:G:A | C192Y | 0.997 |
| 20:24584951:C:G | C192W | 0.997 |
| 20:24584952:T:C | F193L | 0.997 |
| 20:24584954:C:A | F193L | 0.997 |
| 20:24584954:C:G | F193L | 0.997 |
| 20:24584959:C:A | P195H | 0.997 |
| 20:24665467:C:A | A247D | 0.997 |
| 20:24665470:T:C | L248P | 0.997 |
| 20:24584934:T:C | F187L | 0.996 |
| 20:24584936:C:A | F187L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000036657 (20:24532098 G>A,T), RS1000039001 (20:24652900 C>T), RS1000044473 (20:24595787 C>T), RS1000065719 (20:24572995 G>C), RS1000076817 (20:24532677 T>C), RS1000080551 (20:24659847 A>T), RS1000084216 (20:24491830 C>T), RS1000088331 (20:24491641 G>C), RS1000098765 (20:24557725 G>T), RS1000100667 (20:24636075 G>T), RS1000117324 (20:24512353 C>G,T), RS1000132869 (20:24612622 C>T), RS1000133637 (20:24531779 G>A), RS1000136906 (20:24653778 G>A,T), RS1000140976 (20:24471700 T>C)
Disease associations
OMIM: gene MIM:614311 | 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
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008761_8 | Sucrose liking | 7.000000e-06 |
| GCST011741_63 | LDL cholesterol levels in HIV infection | 5.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010157 | sucrose liking measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
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
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Estradiol | affects binding, increases expression | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| ferrous chloride | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Vitamin E | increases expression | 1 |
| Aflatoxin B1 | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | 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