ARL8A
gene geneOn this page
Also known as FLJ45195Gie2
Summary
ARL8A (ARF like GTPase 8A, HGNC:25192) is a protein-coding gene on chromosome 1q32.1, encoding ADP-ribosylation factor-like protein 8A (Q96BM9). Plays a role in lysosome motility.
Enables GTP binding activity. Predicted to be involved in anterograde axonal transport and chromosome segregation. Located in cytoplasm; midbody; and spindle midzone.
Source: NCBI Gene 127829 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- Clinical variants (ClinVar): 19 total
- MANE Select transcript:
NM_138795
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25192 |
| Approved symbol | ARL8A |
| Name | ARF like GTPase 8A |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ45195, Gie2 |
| Ensembl gene | ENSG00000143862 |
| Ensembl biotype | protein_coding |
| OMIM | 616597 |
| Entrez | 127829 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000272217, ENST00000486225, ENST00000491358, ENST00000614750, ENST00000893245, ENST00000893246, ENST00000956129
RefSeq mRNA: 2 — MANE Select: NM_138795
NM_001256129, NM_138795
CCDS: CCDS1421, CCDS73004
Canonical transcript exons
ENST00000272217 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000962395 | 202138368 | 202138448 |
| ENSE00000962396 | 202137965 | 202138038 |
| ENSE00000962397 | 202135707 | 202135800 |
| ENSE00000962398 | 202135459 | 202135526 |
| ENSE00001074706 | 202144450 | 202144737 |
| ENSE00001191671 | 202133404 | 202134516 |
| ENSE00003475548 | 202135150 | 202135220 |
Expression profiles
Bgee: expression breadth ubiquitous, 239 present calls, max score 98.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.4963 / max 371.3092, expressed in 1822 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16701 | 52.4412 | 1822 |
| 16699 | 0.6130 | 342 |
| 16700 | 0.4421 | 221 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.86 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.24 | gold quality |
| spinal cord | UBERON:0002240 | 97.89 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 96.81 | gold quality |
| hypothalamus | UBERON:0001898 | 96.74 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.68 | gold quality |
| embryo | UBERON:0000922 | 96.67 | gold quality |
| substantia nigra | UBERON:0002038 | 96.66 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.36 | gold quality |
| midbrain | UBERON:0001891 | 96.35 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.19 | gold quality |
| putamen | UBERON:0001874 | 95.93 | gold quality |
| amygdala | UBERON:0001876 | 95.74 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.64 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.63 | gold quality |
| caudate nucleus | UBERON:0001873 | 95.48 | gold quality |
| ventricular zone | UBERON:0003053 | 95.32 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 95.18 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.07 | gold quality |
| peripheral nervous system | UBERON:0000010 | 94.95 | gold quality |
| tibial nerve | UBERON:0001323 | 94.95 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 94.95 | silver quality |
| Ammon’s horn | UBERON:0001954 | 94.88 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.88 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.74 | gold quality |
| neocortex | UBERON:0001950 | 94.72 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.71 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.67 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.62 | gold quality |
| frontal cortex | UBERON:0001870 | 94.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.84 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting ARL8A, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
Literature-anchored findings (GeneRIF, showing 2)
- Results suggest that the novel GTPases Gie1 and Gie2 associate with microtubules, and might be involved in chromosome segregation. (PMID:15331635)
- Overexpression of Arl8a or Arl8b results in a microtubule-dependent redistribution of lysosomes towards the cell periphery. Live cell imaging suggested a role for Arl8a and Arl8b as positive regulators of lysosomal transport.[Ar18a] [Ar18b] (PMID:16537643)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | arl8a | ENSDARG00000078686 |
| mus_musculus | Arl8a | ENSMUSG00000026426 |
| rattus_norvegicus | Arl8a | ENSRNOG00000005988 |
| caenorhabditis_elegans | WBGENE00000192 |
Paralogs (30): ARF5 (ENSG00000004059), SAR1A (ENSG00000079332), ARFRP1 (ENSG00000101246), TRIM23 (ENSG00000113595), ARL6 (ENSG00000113966), ARL1 (ENSG00000120805), ARL4A (ENSG00000122644), ARL8B (ENSG00000134108), ARF3 (ENSG00000134287), ARL3 (ENSG00000138175), ARL5C (ENSG00000141748), ARF1 (ENSG00000143761), ARL11 (ENSG00000152213), SAR1B (ENSG00000152700), ARL5A (ENSG00000162980), ARF6 (ENSG00000165527), ARL5B (ENSG00000165997), ARF4 (ENSG00000168374), ARL13B (ENSG00000169379), ARL13A (ENSG00000174225), ARL10 (ENSG00000175414), ARL4D (ENSG00000175906), ARL14 (ENSG00000179674), ARL15 (ENSG00000185305), ARL17A (ENSG00000185829), ARL4C (ENSG00000188042), ARL9 (ENSG00000196503), ARL2 (ENSG00000213465), ARL16 (ENSG00000214087), ARL17B (ENSG00000228696)
Protein
Protein identifiers
ADP-ribosylation factor-like protein 8A — Q96BM9 (reviewed: Q96BM9)
Alternative names: ADP-ribosylation factor-like protein 10B, Novel small G protein indispensable for equal chromosome segregation 2
All UniProt accessions (2): Q96BM9, A0A087X2J2
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in lysosome motility. In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function. May play a role in chromosome segregation.
Subunit / interactions. Interacts with PLEKHM1. When GTP-bound, interacts with RUFY3 and RUFY4, but not with RUFY1, nor RUFY2.
Subcellular location. Late endosome membrane. Lysosome membrane. Cytoplasm. Cytoskeleton. Spindle. Cell projection. Axon. Synapse.
Tissue specificity. Ubiquitously expressed.
Similarity. Belongs to the small GTPase superfamily. Arf family.
RefSeq proteins (2): NP_001243058, NP_620150* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005225 | Small_GTP-bd | Domain |
| IPR006689 | Small_GTPase_ARF/SAR | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR044154 | Arl8a/8b | Family |
Pfam: PF00025
UniProt features (23 total): helix 10, strand 7, binding site 3, chain 1, intramembrane region 1, turn 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1ZD9 | X-RAY DIFFRACTION | 1.7 |
| 2H18 | X-RAY DIFFRACTION | 1.9 |
| 4ILE | X-RAY DIFFRACTION | 2.68 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96BM9-F1 | 91.87 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 29–35; 71–75; 130–133
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-168249 | Innate Immune System |
| R-HSA-168256 | Immune System |
MSigDB gene sets: 135 (showing top):
REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_AXO_DENDRITIC_TRANSPORT, GOCC_VACUOLAR_MEMBRANE, GOCC_SECRETORY_GRANULE, TGACCTY_ERR1_Q2, CREB_Q3, GOCC_NEURON_PROJECTION, GOCC_SPINDLE, GOCC_LATE_ENDOSOME_MEMBRANE, GOCC_CYTOPLASMIC_REGION, GOCC_SECRETORY_VESICLE, GOBP_CELL_DIVISION, GOCC_SYNAPSE, GOCC_SPINDLE_MIDZONE, GOCC_SECRETORY_GRANULE_MEMBRANE
GO Biological Process (4): chromosome segregation (GO:0007059), anterograde axonal transport (GO:0008089), protein transport (GO:0015031), cell division (GO:0051301)
GO Molecular Function (6): GTPase activity (GO:0003924), GTP binding (GO:0005525), alpha-tubulin binding (GO:0043014), beta-tubulin binding (GO:0048487), nucleotide binding (GO:0000166), protein binding (GO:0005515)
GO Cellular Component (18): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), membrane (GO:0016020), midbody (GO:0030496), late endosome membrane (GO:0031902), azurophil granule membrane (GO:0035577), synapse (GO:0045202), spindle midzone (GO:0051233), extracellular exosome (GO:0070062), ficolin-1-rich granule membrane (GO:0101003), axon cytoplasm (GO:1904115), lysosome (GO:0005764), endosome (GO:0005768), spindle (GO:0005819), cytoskeleton (GO:0005856), axon (GO:0030424), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| tubulin binding | 2 |
| secretory granule membrane | 2 |
| intracellular membraneless organelle | 2 |
| cell cycle process | 1 |
| axonal transport | 1 |
| axon cytoplasm | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| membrane | 1 |
| cell periphery | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| lysosomal membrane | 1 |
| azurophil granule | 1 |
| cell junction | 1 |
| spindle | 1 |
| extracellular vesicle | 1 |
| tertiary granule | 1 |
| ficolin-1-rich granule | 1 |
| axon | 1 |
| neuron projection cytoplasm | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| microtubule cytoskeleton | 1 |
| neuron projection | 1 |
Protein interactions and networks
STRING
1911 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ARL8A | KXD1 | Q9BQD3 | 634 |
| ARL8A | PLEKHM2 | Q8IWE5 | 629 |
| ARL8A | BORCS5 | Q969J3 | 571 |
| ARL8A | BORCS8 | Q96FH0 | 565 |
| ARL8A | BORCS7 | Q96B45 | 556 |
| ARL8A | BORCS6 | Q96GS4 | 507 |
| ARL8A | SNAPIN | O95295 | 489 |
| ARL8A | KIF1A | Q12756 | 487 |
| ARL8A | BLOC1S2 | Q6QNY1 | 483 |
| ARL8A | VPS39 | Q96JC1 | 476 |
| ARL8A | KLC2 | Q9H0B6 | 474 |
| ARL8A | BLOC1S1 | P78537 | 471 |
| ARL8A | KLC4 | Q9NSK0 | 436 |
| ARL8A | KLC1 | Q07866 | 436 |
| ARL8A | TBC1D8B | Q0IIM8 | 419 |
IntAct
90 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZSCAN21 | ZNF24 | psi-mi:“MI:0914”(association) | 0.830 |
| ARL8A | SPG21 | psi-mi:“MI:0915”(physical association) | 0.740 |
| ARL8A | UQCRH | psi-mi:“MI:0915”(physical association) | 0.720 |
| UQCRH | ARL8A | psi-mi:“MI:0915”(physical association) | 0.720 |
| MOCOS | ARL8A | psi-mi:“MI:0915”(physical association) | 0.670 |
| ARL8A | MOCOS | psi-mi:“MI:0915”(physical association) | 0.670 |
| PUF60 | ARL8A | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL8A | PUF60 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| LIPG | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| NT5E | SCAMP1 | psi-mi:“MI:0914”(association) | 0.530 |
| WASHC3 | WASH3P | psi-mi:“MI:0914”(association) | 0.530 |
| DDX41 | NOS1AP | psi-mi:“MI:0914”(association) | 0.530 |
| GHITM | MFN2 | psi-mi:“MI:0914”(association) | 0.530 |
| ERBB2 | HAX1 | psi-mi:“MI:0914”(association) | 0.530 |
| ARL8A | psi-mi:“MI:0915”(physical association) | 0.520 | |
| PLEKHM1 | ARL8A | psi-mi:“MI:0915”(physical association) | 0.510 |
| SNW1 | ARL8A | psi-mi:“MI:0915”(physical association) | 0.510 |
| ARL8A | PLEKHM1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| KIF3A | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.350 |
| LITAF | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
| GNAI2 | GNG7 | psi-mi:“MI:0914”(association) | 0.350 |
| RARS2 | PCCA | psi-mi:“MI:0914”(association) | 0.350 |
| TEX101 | NDUFA4 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (114): ARL8A (Two-hybrid), ARL8A (Two-hybrid), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Co-fractionation), ARL8A (Co-fractionation), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS), ARL8A (Affinity Capture-MS)
ESM2 similar proteins: A8ISN6, B5FYQ0, O08697, O48649, O48920, P0CM16, P0CM17, P0DH91, P36397, P36404, P36405, P37996, P40617, P40940, P49076, P51821, P51822, P51823, P61213, P61214, Q06396, Q06849, Q19705, Q1MTE5, Q2KI07, Q2TA37, Q2TBW6, Q3T0M9, Q4R4S4, Q52NJ4, Q54R04, Q5R6E7, Q5ZKQ8, Q627K4, Q66HA6, Q6NZW8, Q6P8C8, Q8QHI3, Q8VEH3, Q8VY57
Diamond homologs: A8INQ0, A8ISN6, B5FYQ0, O04266, O04834, O08697, O23778, O45379, O48649, O48920, P0CM16, P0CM17, P0DH91, P11076, P19146, P20606, P22274, P26990, P26991, P36397, P36404, P36405, P36579, P37996, P38116, P40616, P40940, P40945, P40946, P49076, P51643, P51645, P51821, P51822, P51823, P51824, P61204, P61205, P61206, P61207
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
19 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 6 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
959 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:202134513:ATGT:A | acceptor_gain | 1.0000 |
| 1:202134515:GT:G | acceptor_gain | 1.0000 |
| 1:202134517:C:CC | acceptor_gain | 1.0000 |
| 1:202135146:GCAC:G | donor_loss | 1.0000 |
| 1:202135147:CA:C | donor_loss | 1.0000 |
| 1:202135148:A:AC | donor_gain | 1.0000 |
| 1:202135148:ACC:A | donor_loss | 1.0000 |
| 1:202135149:C:CC | donor_gain | 1.0000 |
| 1:202135158:T:TA | donor_gain | 1.0000 |
| 1:202135218:TTC:T | acceptor_gain | 1.0000 |
| 1:202135453:A:C | donor_gain | 1.0000 |
| 1:202135455:TCA:T | donor_loss | 1.0000 |
| 1:202135456:CA:C | donor_loss | 1.0000 |
| 1:202135457:A:AC | donor_gain | 1.0000 |
| 1:202135457:A:AT | donor_loss | 1.0000 |
| 1:202135458:C:CG | donor_gain | 1.0000 |
| 1:202135458:CA:C | donor_gain | 1.0000 |
| 1:202135458:CAT:C | donor_gain | 1.0000 |
| 1:202135528:T:G | acceptor_loss | 1.0000 |
| 1:202135690:C:CA | donor_gain | 1.0000 |
| 1:202135758:AGAGG:A | donor_gain | 1.0000 |
| 1:202135796:TGTAC:T | acceptor_gain | 1.0000 |
| 1:202135799:AC:A | acceptor_gain | 1.0000 |
| 1:202135800:CC:C | acceptor_gain | 1.0000 |
| 1:202135801:C:CC | acceptor_gain | 1.0000 |
| 1:202135801:CTGG:C | acceptor_loss | 1.0000 |
| 1:202137959:ACTT:A | donor_loss | 1.0000 |
| 1:202137960:CTTA:C | donor_loss | 1.0000 |
| 1:202137961:TTACA:T | donor_loss | 1.0000 |
| 1:202137962:TA:T | donor_loss | 1.0000 |
AlphaMissense
1228 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:202135506:C:A | K131N | 1.000 |
| 1:202135506:C:G | K131N | 1.000 |
| 1:202135519:A:T | V127D | 1.000 |
| 1:202137997:C:A | W82C | 1.000 |
| 1:202137997:C:G | W82C | 1.000 |
| 1:202137999:A:G | W82R | 1.000 |
| 1:202137999:A:T | W82R | 1.000 |
| 1:202138009:G:C | F78L | 1.000 |
| 1:202138009:G:T | F78L | 1.000 |
| 1:202138010:A:G | F78S | 1.000 |
| 1:202138011:A:G | F78L | 1.000 |
| 1:202138022:C:T | G74E | 1.000 |
| 1:202138023:C:G | G74R | 1.000 |
| 1:202138023:C:T | G74R | 1.000 |
| 1:202138025:C:T | G73E | 1.000 |
| 1:202138031:T:G | D71A | 1.000 |
| 1:202138032:C:G | D71H | 1.000 |
| 1:202138035:A:G | W70R | 1.000 |
| 1:202138035:A:T | W70R | 1.000 |
| 1:202138407:G:C | F55L | 1.000 |
| 1:202138407:G:T | F55L | 1.000 |
| 1:202138408:A:G | F55S | 1.000 |
| 1:202138409:A:G | F55L | 1.000 |
| 1:202138411:C:T | G54D | 1.000 |
| 1:202138412:C:G | G54R | 1.000 |
| 1:202144472:G:A | T34I | 1.000 |
| 1:202144478:C:T | G32D | 1.000 |
| 1:202144493:C:T | G27E | 1.000 |
| 1:202144494:C:A | G27W | 1.000 |
| 1:202144494:C:G | G27R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000012952 (1:202143582 CCAT>C), RS1000299850 (1:202133299 C>T), RS1000415742 (1:202133576 A>G), RS1000940744 (1:202140481 C>T), RS1001718058 (1:202134700 T>G), RS1001855884 (1:202143932 C>G,T), RS1002069903 (1:202141537 G>A), RS1002446837 (1:202144958 G>A), RS1002521381 (1:202133773 T>C), RS1002720882 (1:202133437 T>C,G), RS1002746119 (1:202136091 G>A), RS1003248652 (1:202145280 G>C), RS1003279925 (1:202145664 G>A,C,T), RS1003570133 (1:202144191 G>A), RS1003632255 (1:202137145 C>T)
Disease associations
OMIM: gene MIM:616597 | 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
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| sodium arsenite | affects expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV) | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Clozapine | decreases expression | 1 |
| Dactinomycin | increases expression, affects cotreatment | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | 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