THBS3
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Summary
THBS3 (thrombospondin 3, HGNC:11787) is a protein-coding gene on chromosome 1q22, encoding Thrombospondin-3 (P49746). Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions.
The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants.
Source: NCBI Gene 7059 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 24
- Clinical variants (ClinVar): 142 total
- MANE Select transcript:
NM_007112
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11787 |
| Approved symbol | THBS3 |
| Name | thrombospondin 3 |
| Location | 1q22 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000169231 |
| Ensembl biotype | protein_coding |
| OMIM | 188062 |
| Entrez | 7059 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 3 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000368378, ENST00000428962, ENST00000457183, ENST00000460050, ENST00000465596, ENST00000469769, ENST00000486260, ENST00000496332, ENST00000498500, ENST00000541576, ENST00000541990, ENST00000902272, ENST00000902273, ENST00000902274, ENST00000902275, ENST00000960679, ENST00000960680, ENST00000960681
RefSeq mRNA: 15 — MANE Select: NM_007112
NM_001252607, NM_001252608, NM_001407487, NM_001407488, NM_001407490, NM_001407554, NM_001407555, NM_001407556, NM_001407557, NM_001407558, NM_001407559, NM_001407560, NM_001407561, NM_001407562, NM_007112
CCDS: CCDS1099, CCDS58034, CCDS72937
Canonical transcript exons
ENST00000368378 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001741552 | 155197041 | 155197213 |
| ENSE00001812852 | 155207798 | 155207897 |
| ENSE00003470720 | 155197463 | 155197659 |
| ENSE00003475684 | 155198409 | 155198602 |
| ENSE00003514041 | 155199804 | 155199856 |
| ENSE00003519383 | 155200897 | 155201004 |
| ENSE00003519875 | 155197880 | 155197928 |
| ENSE00003539715 | 155195588 | 155195899 |
| ENSE00003541969 | 155198042 | 155198220 |
| ENSE00003543093 | 155203086 | 155203137 |
| ENSE00003558747 | 155201094 | 155201204 |
| ENSE00003601175 | 155205060 | 155205316 |
| ENSE00003607743 | 155195987 | 155196126 |
| ENSE00003635284 | 155206200 | 155206406 |
| ENSE00003637247 | 155202812 | 155202960 |
| ENSE00003650752 | 155203513 | 155203539 |
| ENSE00003652041 | 155202261 | 155202401 |
| ENSE00003654553 | 155201417 | 155201569 |
| ENSE00003664053 | 155203223 | 155203305 |
| ENSE00003669305 | 155201957 | 155202034 |
| ENSE00003670336 | 155204855 | 155204957 |
| ENSE00003715233 | 155200451 | 155200610 |
| ENSE00003749035 | 155199995 | 155200113 |
Expression profiles
Bgee: expression breadth ubiquitous, 232 present calls, max score 98.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.7860 / max 294.6470, expressed in 1759 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 14918 | 7.7303 | 1239 |
| 14919 | 2.6860 | 1338 |
| 14920 | 1.3562 | 821 |
| 14917 | 0.0136 | 3 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.13 | gold quality |
| tibia | UBERON:0000979 | 97.73 | gold quality |
| body of uterus | UBERON:0009853 | 96.64 | gold quality |
| right testis | UBERON:0004534 | 96.51 | gold quality |
| left testis | UBERON:0004533 | 96.24 | gold quality |
| right coronary artery | UBERON:0001625 | 96.00 | gold quality |
| left uterine tube | UBERON:0001303 | 95.95 | gold quality |
| tibial nerve | UBERON:0001323 | 95.76 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 95.27 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.12 | gold quality |
| endocervix | UBERON:0000458 | 95.05 | gold quality |
| ascending aorta | UBERON:0001496 | 95.02 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.95 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.91 | gold quality |
| left ovary | UBERON:0002119 | 94.74 | gold quality |
| right ovary | UBERON:0002118 | 94.63 | gold quality |
| left coronary artery | UBERON:0001626 | 94.42 | gold quality |
| adenohypophysis | UBERON:0002196 | 94.41 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.35 | gold quality |
| lower esophagus | UBERON:0013473 | 94.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.33 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.25 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.17 | gold quality |
| coronary artery | UBERON:0001621 | 93.97 | gold quality |
| aorta | UBERON:0000947 | 93.84 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 93.78 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.58 | gold quality |
| ectocervix | UBERON:0012249 | 93.50 | gold quality |
| testis | UBERON:0000473 | 93.40 | gold quality |
| tibial artery | UBERON:0007610 | 93.15 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.21 |
| E-GEOD-100618 | no | 324.11 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting THBS3, 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-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-183-5P | 99.31 | 72.27 | 1164 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-3074-5P | 98.82 | 66.56 | 1414 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-7155-5P | 98.65 | 66.14 | 1290 |
| HSA-MIR-4680-3P | 98.64 | 68.60 | 2093 |
| HSA-MIR-4780 | 98.57 | 64.75 | 611 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-6827-5P | 98.46 | 64.88 | 1256 |
| HSA-MIR-6870-3P | 98.08 | 65.10 | 692 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
| HSA-MIR-33B-3P | 97.92 | 67.39 | 529 |
| HSA-MIR-515-3P | 97.92 | 67.98 | 506 |
| HSA-MIR-519E-3P | 97.92 | 68.25 | 508 |
| HSA-MIR-1271-3P | 97.56 | 64.85 | 865 |
| HSA-MIR-550A-3-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-550A-5P | 97.56 | 65.35 | 823 |
| HSA-MIR-5187-3P | 97.28 | 67.10 | 1037 |
| HSA-MIR-1182 | 96.41 | 64.89 | 336 |
| HSA-MIR-8074 | 90.61 | 65.46 | 165 |
Literature-anchored findings (GeneRIF, showing 6)
- Normal human adult corneal keratocytes have mRNA for this protein. (PMID:11943589)
- This is the first report of the THBS3 gene working as a stimulator of tumor progression. (PMID:17022822)
- Pathological Significance and Prognostic Roles of Thrombospondin-3, 4 and 5 in Bladder Cancer. (PMID:33910854)
- Serum levels of the IgA isotype switch factor TGF-beta1 are elevated in patients with COVID-19. (PMID:33961290)
- mRNA Expression of thrombospondin 1, 2 and 3 from proximal to distal in human abdominal aortic aneurysm - preliminary report. (PMID:34669362)
- Hyperuricemia and coronary heart disease: The mediating role of blood pressure and thrombospondin 3. (PMID:37524613)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | thbs3b | ENSDARG00000012060 |
| danio_rerio | thbs3a | ENSDARG00000077641 |
| mus_musculus | Thbs3 | ENSMUSG00000028047 |
| rattus_norvegicus | Thbs3 | ENSRNOG00000059903 |
| drosophila_melanogaster | Tsp | FBGN0031850 |
Paralogs (5): ISM1 (ENSG00000101230), COMP (ENSG00000105664), THBS4 (ENSG00000113296), THBS1 (ENSG00000137801), THBS2 (ENSG00000186340)
Protein
Protein identifiers
Thrombospondin-3 — P49746 (reviewed: P49746)
All UniProt accessions (4): P49746, B4DQH6, F5H4Z8, Q2HIZ1
UniProt curated annotations — full annotation on UniProt →
Function. Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. Can bind to fibrinogen, fibronectin, laminin and type V collagen.
Subunit / interactions. Oligomer; disulfide-linked.
Similarity. Belongs to the thrombospondin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P49746-1 | 1 | yes |
| P49746-2 | 2 |
RefSeq proteins (15): NP_001239536, NP_001239537, NP_001394416, NP_001394417, NP_001394419, NP_001394483, NP_001394484, NP_001394485, NP_001394486, NP_001394487, NP_001394488, NP_001394489, NP_001394490, NP_001394491, NP_009043* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000742 | EGF | Domain |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR003367 | Thrombospondin_3-like_rpt | Repeat |
| IPR008859 | Thrombospondin_C | Domain |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR017897 | Thrombospondin_3_rpt | Repeat |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR024665 | TSP/COMP_CC | Domain |
| IPR028507 | TSP3_CC | Domain |
| IPR028974 | TSP_type-3_rpt | Homologous_superfamily |
| IPR046970 | TSP/COMP_CC_sf | Homologous_superfamily |
| IPR048287 | TSPN-like_N | Domain |
| IPR049883 | NOTCH1_EGF-like | Domain |
Pfam: PF02412, PF05735, PF07645, PF11598
UniProt features (50 total): disulfide bond 23, repeat 8, domain 5, glycosylation site 4, compositionally biased region 3, region of interest 2, sequence variant 2, signal peptide 1, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P49746-F1 | 85.66 | 0.55 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (23): 266, 269, 278–289, 283–300, 303–314, 320–332, 326–341, 344–368, 374–388, 382–397, 400–412, 418–432, 426–442, 444–455, 471–478, 483–503, 519–539, 542–562, 578–598, 601–621 …
Glycosylation sites (4): 310, 407, 644, 937
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-186797 | Signaling by PDGF |
MSigDB gene sets: 180 (showing top):
GOBP_BONE_TRABECULA_MORPHOGENESIS, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GCANCTGNY_MYOD_Q6, GOBP_GROWTH, RACCACAR_AML_Q6, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, GGGTGGRR_PAX4_03, GOBP_BONE_GROWTH, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_ANATOMICAL_STRUCTURE_MATURATION, CCANNAGRKGGC_UNKNOWN, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT
GO Biological Process (5): growth plate cartilage development (GO:0003417), cell-matrix adhesion (GO:0007160), ossification involved in bone maturation (GO:0043931), bone trabecula formation (GO:0060346), cell adhesion (GO:0007155)
GO Molecular Function (4): calcium ion binding (GO:0005509), heparin binding (GO:0008201), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)
GO Cellular Component (3): extracellular region (GO:0005576), extracellular matrix (GO:0031012), perinuclear region of cytoplasm (GO:0048471)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by Receptor Tyrosine Kinases | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| endochondral bone growth | 1 |
| cartilage development involved in endochondral bone morphogenesis | 1 |
| connective tissue development | 1 |
| cell-substrate adhesion | 1 |
| ossification | 1 |
| bone maturation | 1 |
| skeletal system morphogenesis | 1 |
| trabecula formation | 1 |
| bone trabecula morphogenesis | 1 |
| cellular process | 1 |
| metal ion binding | 1 |
| glycosaminoglycan binding | 1 |
| sulfur compound binding | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| binding | 1 |
| external encapsulating structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1885 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| THBS3 | MTX1 | Q13505 | 905 |
| THBS3 | TRIM46 | Q7Z4K8 | 904 |
| THBS3 | GBA1 | P04062 | 738 |
| THBS3 | MUC1 | P13931 | 665 |
| THBS3 | COMP | P49747 | 638 |
| THBS3 | AZU1 | P20160 | 590 |
| THBS3 | PGK2 | P07205 | 547 |
| THBS3 | TNXB | P22105 | 507 |
| THBS3 | ITGA7 | Q13683 | 497 |
| THBS3 | ITGA6 | P23229 | 494 |
| THBS3 | ITGA5 | P08648 | 492 |
| THBS3 | ENTREP3 | P81408 | 478 |
| THBS3 | ITGB5 | P18084 | 468 |
| THBS3 | COL9A3 | Q14050 | 457 |
| THBS3 | THBS4 | P35443 | 432 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CALR | THBS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DLST | THBS3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| THBS3 | NEK7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SDC1 | ILVBL | psi-mi:“MI:0915”(physical association) | 0.400 |
| THBS3 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| THBS3 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| FGG | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (140): HSPD1 (Affinity Capture-MS), BBS2 (Affinity Capture-MS), CPS1 (Affinity Capture-MS), RFC1 (Affinity Capture-MS), SMG8 (Affinity Capture-MS), ASCC3 (Affinity Capture-MS), PC (Affinity Capture-MS), CCT7 (Affinity Capture-MS), RIC8B (Affinity Capture-MS), TRO (Affinity Capture-MS), GTPBP6 (Affinity Capture-MS), METTL13 (Affinity Capture-MS), CCZ1 (Affinity Capture-MS), NDUFA3 (Affinity Capture-MS), PKN2 (Affinity Capture-MS)
ESM2 similar proteins: A0A131MBU3, A1Z877, B5DFC9, G5EFD5, M9PE65, O02466, O18016, O76840, O77469, O88322, O97827, P10493, P13508, P14543, P14585, P35443, P41950, P41990, P49744, P49746, P51559, P98160, Q04833, Q05793, Q05895, Q06441, Q06561, Q17800, Q19617, Q1L8P7, Q20911, Q24247, Q27591, Q29RU4, Q3SWW8, Q6DI48, Q7QIQ6, Q80TS3, Q811M5, Q8JGW0
Diamond homologs: A0A1D0C023, A2ARV4, B3EWY9, B3NBB6, B4HVU2, B4PD96, B5DFC9, F1RRV3, O08523, O08710, O42182, O73775, O75095, O75197, O75443, O75581, O77469, O88322, O88572, P01130, P01131, P01266, P01267, P04233, P04441, P06882, P07522, P08460, P10247, P10493, P14543, P20063, P23142, P27590, P31226, P35442, P35443, P35444, P35445, P48960
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
142 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 121 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4150 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:155197505:AG:A | donor_gain | 1.0000 |
| 1:155197534:T:TA | donor_gain | 1.0000 |
| 1:155198408:CCAT:C | donor_gain | 1.0000 |
| 1:155200459:T:TA | donor_gain | 1.0000 |
| 1:155200465:T:TA | donor_gain | 1.0000 |
| 1:155200482:T:TA | donor_gain | 1.0000 |
| 1:155200486:T:TA | donor_gain | 1.0000 |
| 1:155200611:C:CA | acceptor_loss | 1.0000 |
| 1:155200612:T:C | acceptor_loss | 1.0000 |
| 1:155200616:C:CT | acceptor_gain | 1.0000 |
| 1:155201086:C:CA | donor_gain | 1.0000 |
| 1:155201203:CA:C | acceptor_gain | 1.0000 |
| 1:155201205:C:CC | acceptor_gain | 1.0000 |
| 1:155201951:GCTCA:G | donor_loss | 1.0000 |
| 1:155201952:CTCA:C | donor_loss | 1.0000 |
| 1:155201954:CA:C | donor_loss | 1.0000 |
| 1:155201955:A:AC | donor_gain | 1.0000 |
| 1:155201955:A:AG | donor_loss | 1.0000 |
| 1:155201956:C:CC | donor_gain | 1.0000 |
| 1:155201956:CCA:C | donor_gain | 1.0000 |
| 1:155201956:CCACA:C | donor_gain | 1.0000 |
| 1:155203138:CTGG:C | acceptor_loss | 1.0000 |
| 1:155203139:T:A | acceptor_loss | 1.0000 |
| 1:155205314:GTA:G | acceptor_gain | 1.0000 |
| 1:155205317:C:CC | acceptor_gain | 1.0000 |
| 1:155207796:AC:A | donor_gain | 1.0000 |
| 1:155207797:CC:C | donor_gain | 1.0000 |
| 1:155197510:G:A | donor_gain | 0.9900 |
| 1:155197534:TCC:T | donor_gain | 0.9900 |
| 1:155197543:C:CT | donor_gain | 0.9900 |
AlphaMissense
6358 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:155196014:A:G | W929R | 1.000 |
| 1:155196014:A:T | W929R | 1.000 |
| 1:155196027:T:A | Q924H | 1.000 |
| 1:155196027:T:G | Q924H | 1.000 |
| 1:155196031:G:A | S923F | 1.000 |
| 1:155196032:A:G | S923P | 1.000 |
| 1:155196033:G:C | F922L | 1.000 |
| 1:155196033:G:T | F922L | 1.000 |
| 1:155196035:A:G | F922L | 1.000 |
| 1:155196036:G:C | C921W | 1.000 |
| 1:155197100:C:A | W871C | 1.000 |
| 1:155197100:C:G | W871C | 1.000 |
| 1:155197102:A:G | W871R | 1.000 |
| 1:155197102:A:T | W871R | 1.000 |
| 1:155197163:C:A | W850C | 1.000 |
| 1:155197163:C:G | W850C | 1.000 |
| 1:155197165:A:G | W850R | 1.000 |
| 1:155197165:A:T | W850R | 1.000 |
| 1:155197467:A:G | L832P | 1.000 |
| 1:155197511:C:A | W817C | 1.000 |
| 1:155197511:C:G | W817C | 1.000 |
| 1:155197532:C:A | K810N | 1.000 |
| 1:155197532:C:G | K810N | 1.000 |
| 1:155197537:A:G | W809R | 1.000 |
| 1:155197537:A:T | W809R | 1.000 |
| 1:155197593:T:A | D790V | 1.000 |
| 1:155197593:T:C | D790G | 1.000 |
| 1:155197593:T:G | D790A | 1.000 |
| 1:155197594:C:G | D790H | 1.000 |
| 1:155197596:T:A | D789V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000441255 (1:155209566 C>T), RS1000779176 (1:155195516 C>A), RS1001048297 (1:155208357 G>A), RS1001146257 (1:155195125 G>A), RS1001170447 (1:155210003 G>A), RS1001397487 (1:155208618 T>C), RS1001947023 (1:155207240 A>G), RS1002183499 (1:155196535 A>G), RS1002214316 (1:155196188 A>G), RS1002955122 (1:155205828 A>C), RS1003004372 (1:155205371 C>G), RS1003185129 (1:155198310 T>G), RS1003428556 (1:155198340 A>G), RS1003702993 (1:155205506 G>A), RS1004012499 (1:155203788 G>C)
Disease associations
OMIM: gene MIM:188062 | 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
24 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003254_5 | Urinary albumin-to-creatinine ratio in non-diabetics | 9.000000e-06 |
| GCST003255_9 | Urinary albumin-to-creatinine ratio | 7.000000e-06 |
| GCST004131_70 | Inflammatory bowel disease | 6.000000e-08 |
| GCST004132_44 | Crohn’s disease | 2.000000e-07 |
| GCST006979_954 | Heel bone mineral density | 6.000000e-12 |
| GCST007294_124 | Body fat distribution (trunk fat ratio) | 8.000000e-35 |
| GCST007294_3 | Body fat distribution (trunk fat ratio) | 6.000000e-21 |
| GCST007294_50 | Body fat distribution (trunk fat ratio) | 1.000000e-15 |
| GCST007295_17 | Body fat distribution (leg fat ratio) | 3.000000e-13 |
| GCST007295_37 | Body fat distribution (leg fat ratio) | 7.000000e-17 |
| GCST007295_72 | Body fat distribution (leg fat ratio) | 1.000000e-28 |
| GCST007536_1 | Serum urea levels | 4.000000e-09 |
| GCST008707_1 | Occipital lobe volume | 1.000000e-07 |
| GCST009649_3 | Serum cancer antigen 15.3 levels | 3.000000e-63 |
| GCST009649_4 | Serum cancer antigen 15.3 levels | 1.000000e-14 |
| GCST010696_19 | Cortical thickness (min-P) | 2.000000e-10 |
| GCST010697_10 | Cortical surface area (min-P) | 3.000000e-10 |
| GCST010698_59 | Subcortical volume (min-P) | 9.000000e-10 |
| GCST010699_20 | Brain morphology (min-P) | 7.000000e-10 |
| GCST010700_5 | Cortical thickness (MOSTest) | 8.000000e-17 |
| GCST010701_66 | Cortical surface area (MOSTest) | 1.000000e-09 |
| GCST010702_43 | Subcortical volume (MOSTest) | 3.000000e-10 |
| GCST010703_253 | Brain morphology (MOSTest) | 4.000000e-14 |
| GCST90002391_65 | Mean corpuscular hemoglobin concentration | 2.000000e-15 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0009270 | heel bone mineral density |
| EFO:0004341 | body fat distribution |
| EFO:0010585 | cancer antigen 15.3 measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
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
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 3 |
| Valproic Acid | affects expression, decreases expression, increases methylation | 3 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 2 |
| Dexamethasone | decreases expression, affects cotreatment | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| afuresertib | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| benazol P | affects expression | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| Am 580 | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | affects cotreatment, increases 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 |
| Dasatinib | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Chelating Agents | affects binding, increases expression | 1 |
| Cisplatin | increases expression, affects cotreatment | 1 |
| Copper | affects binding, increases expression | 1 |
| Doxorubicin | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0QZ | Ubigene HeLa THBS3 KO | Cancer cell line | Female |
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): Crohn disease, inflammatory bowel disease, Tourette syndrome