VAT1L
gene geneOn this page
Also known as KIAA1576
Summary
VAT1L (vesicle amine transport 1 like, HGNC:29315) is a protein-coding gene on chromosome 16q23.1, encoding Putative NADPH-dependent quinone oxidoreductase VAT1L (Q9HCJ6). Putative NADPH-dependent quinone oxidoreductase.
Predicted to enable oxidoreductase activity and zinc ion binding activity.
Source: NCBI Gene 57687 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 82 total
- MANE Select transcript:
NM_020927
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29315 |
| Approved symbol | VAT1L |
| Name | vesicle amine transport 1 like |
| Location | 16q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1576 |
| Ensembl gene | ENSG00000171724 |
| Ensembl biotype | protein_coding |
| OMIM | 620202 |
| Entrez | 57687 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000302536, ENST00000563850
RefSeq mRNA: 1 — MANE Select: NM_020927
NM_020927
CCDS: CCDS32492
Canonical transcript exons
ENST00000302536 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000694990 | 77884608 | 77884802 |
| ENSE00000945485 | 77825246 | 77825461 |
| ENSE00001143322 | 77816921 | 77817050 |
| ENSE00001203123 | 77971850 | 77971933 |
| ENSE00001203164 | 77977597 | 77980107 |
| ENSE00001321007 | 77788564 | 77788915 |
| ENSE00003471666 | 77862748 | 77862890 |
| ENSE00003563060 | 77879169 | 77879224 |
| ENSE00003689436 | 77876370 | 77876473 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 98.14.
FANTOM5 (CAGE): breadth broad, TPM avg 9.3825 / max 497.7461, expressed in 712 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155074 | 5.2135 | 610 |
| 155073 | 3.2497 | 583 |
| 155075 | 0.5665 | 260 |
| 155072 | 0.2694 | 158 |
| 155076 | 0.0833 | 32 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 98.14 | gold quality |
| retina | UBERON:0000966 | 98.11 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.83 | gold quality |
| hypothalamus | UBERON:0001898 | 96.31 | gold quality |
| ventricular zone | UBERON:0003053 | 95.94 | gold quality |
| cerebellum | UBERON:0002037 | 95.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.53 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.49 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.47 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.35 | gold quality |
| nucleus accumbens | UBERON:0001882 | 95.04 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.01 | gold quality |
| endothelial cell | CL:0000115 | 94.95 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.84 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.70 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.82 | gold quality |
| medulla oblongata | UBERON:0001896 | 93.36 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.36 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.13 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.85 | gold quality |
| spinal cord | UBERON:0002240 | 92.81 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 92.02 | gold quality |
| putamen | UBERON:0001874 | 91.90 | gold quality |
| heart right ventricle | UBERON:0002080 | 91.69 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.53 | gold quality |
| pons | UBERON:0000988 | 90.77 | gold quality |
| myocardium | UBERON:0002349 | 90.55 | silver quality |
| islet of Langerhans | UBERON:0000006 | 90.50 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.29 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.99 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | yes | 13.73 |
| E-GEOD-135922 | yes | 13.11 |
| E-MTAB-5061 | yes | 9.23 |
| E-GEOD-137537 | yes | 6.23 |
| E-ANND-3 | yes | 3.91 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
156 targeting VAT1L, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-12133 | 99.92 | 71.82 | 2006 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-1271-5P | 99.91 | 71.99 | 1972 |
| HSA-MIR-589-3P | 99.91 | 69.62 | 2088 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
Cross-species orthologs
8 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | vat1l | ENSDARG00000101280 |
| mus_musculus | Vat1l | ENSMUSG00000046844 |
| rattus_norvegicus | Vat1l | ENSRNOG00000011989 |
| drosophila_melanogaster | Drat | FBGN0033188 |
| caenorhabditis_elegans | WBGENE00010790 | |
| caenorhabditis_elegans | WBGENE00010791 | |
| caenorhabditis_elegans | WBGENE00014096 | |
| caenorhabditis_elegans | WBGENE00017060 |
Paralogs (17): PTGR1 (ENSG00000106853), VAT1 (ENSG00000108828), TP53I3 (ENSG00000115129), MECR (ENSG00000116353), CRYZ (ENSG00000116791), RTN4IP1 (ENSG00000130347), PTGR2 (ENSG00000140043), SORD (ENSG00000140263), ADH6 (ENSG00000172955), PTGR3 (ENSG00000180011), ADH1A (ENSG00000187758), ADH7 (ENSG00000196344), ADH1B (ENSG00000196616), ADH5 (ENSG00000197894), ADH4 (ENSG00000198099), CRYZL1 (ENSG00000205758), ADH1C (ENSG00000248144)
Protein
Protein identifiers
Putative NADPH-dependent quinone oxidoreductase VAT1L — Q9HCJ6 (reviewed: Q9HCJ6)
Alternative names: Synaptic vesicle membrane protein VAT-1 homolog-like, Vesicle amine transport 1 like
All UniProt accessions (1): Q9HCJ6
UniProt curated annotations — full annotation on UniProt →
Function. Putative NADPH-dependent quinone oxidoreductase.
Tissue specificity. Detected in skin fibroblasts.
Similarity. Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
RefSeq proteins (1): NP_065978* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002364 | Quin_OxRdtase/zeta-crystal_CS | Conserved_site |
| IPR011032 | GroES-like_sf | Homologous_superfamily |
| IPR013154 | ADH-like_N | Domain |
| IPR020843 | ER | Domain |
| IPR036291 | NAD(P)-bd_dom_sf | Homologous_superfamily |
| IPR052100 | VAT1 | Family |
Pfam: PF08240, PF13602
Catalyzed reactions (Rhea), 1 shown:
- 2 a quinone + NADPH + H(+) = 2 a 1,4-benzosemiquinone + NADP(+) (RHEA:14269)
UniProt features (52 total): strand 18, helix 15, binding site 9, modified residue 4, compositionally biased region 3, region of interest 2, chain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4A27 | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCJ6-F1 | 86.19 | 0.73 |
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 (9): 217; 275; 316; 321; 372; 82; 192; 193; 214
Post-translational modifications (4): 392, 393, 395, 396
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 99 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, ATGCAGT_MIR217, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, AGTCAGC_MIR345, TGCCTTA_MIR124A, LEIN_MIDBRAIN_MARKERS, ZHENG_GLIOBLASTOMA_PLASTICITY_UP, WANG_SMARCE1_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H_QUINONE_OR_SIMILAR_COMPOUND_AS_ACCEPTOR, CAGTATT_MIR200B_MIR200C_MIR429, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, CHICAS_RB1_TARGETS_GROWING
GO Biological Process (0):
GO Molecular Function (4): zinc ion binding (GO:0008270), NADPH dehydrogenase (quinone) activity (GO:0008753), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transition metal ion binding | 1 |
| NAD(P)H dehydrogenase (quinone) activity | 1 |
| NADPH dehydrogenase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
Protein interactions and networks
STRING
1772 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| VAT1L | CLEC3A | O75596 | 536 |
| VAT1L | WWOX | Q9NZC7 | 501 |
| VAT1L | SYCE1L | A8MT33 | 499 |
| VAT1L | ECHDC2 | Q86YB7 | 495 |
| VAT1L | HIBCH | Q6NVY1 | 492 |
| VAT1L | ACADVL | P49748 | 443 |
| VAT1L | MAD1L1 | Q9Y6D9 | 431 |
| VAT1L | NUDT7 | P0C024 | 430 |
| VAT1L | ALDH2 | P05091 | 429 |
| VAT1L | MAOA | P21397 | 427 |
| VAT1L | STRN4 | Q9NRL3 | 388 |
| VAT1L | KRT23 | Q9C075 | 375 |
| VAT1L | TOMM40 | O96008 | 371 |
| VAT1L | OSBPL3 | Q9H4L5 | 370 |
| VAT1L | CTNNA3 | Q9UI47 | 366 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SERPIND1 | VAT1L | psi-mi:“MI:0915”(physical association) | 0.590 |
| UBXN2B | VAT1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| HTT | VAT1L | psi-mi:“MI:0915”(physical association) | 0.560 |
| ST6GALNAC1 | EEF1A2 | psi-mi:“MI:0914”(association) | 0.560 |
| C11orf24 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| VAT1L | PIBF1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC9A6 | MAP1LC3B2 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1CA | ACO2 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (15): UBXN2B (Two-hybrid), PIBF1 (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), VAT1L (Two-hybrid), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), PIBF1 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A0A6N3IN21, A3KCL7, A6QQF5, B0BNC9, O35678, O75911, O77769, O88876, O97764, P00333, P05336, P11415, P14673, P14674, P14675, P17648, P28032, P47199, P50336, Q08257, Q0MVN8, Q0P5F9, Q28452, Q28GQ2, Q2R8Z5, Q3MIE4, Q3UGR5, Q3UNZ8, Q5BJJ5, Q5R4B4, Q5R4S7, Q60HD5, Q62465, Q6AYR6, Q6AYT0, Q75ZX4, Q80TB8, Q8LEB2, Q8R1Q9, Q8R238
Diamond homologs: A0A068ABB7, A0A084R1H6, A0A0B5KU17, A0A0C6E0I7, A0A0F7GFS4, A0A0M4L8I7, A0A0S6XH49, A0A0U4ZX08, A0A0U5GK88, A0A167LUQ4, A0A1L7U4V5, A0A1L9WN37, A0A1U8QN18, A0A1V6PAF7, A0A1W5T1U1, A0A2H3CTK0, A0A3T0QHT6, A0A411L027, A0A443HK66, A0A481WR96, A0A482N9V7, A0A5C1RDA3, A0A6F9DXA0, A0JJU1, A0R0B2, A2QQV0, A5ABG0, B4ER95, B4ER97, B6F209, B8NJG3, D4AU31, D9N1A1, E0D202, E0D204, E9F8M3, G0REX6, G1XU04, G3J9P0, G3JUI8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
82 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 68 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1773 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:77788862:G:GT | donor_gain | 1.0000 |
| 16:77788863:A:T | donor_gain | 1.0000 |
| 16:77788884:G:GT | donor_gain | 1.0000 |
| 16:77788921:G:GG | donor_gain | 1.0000 |
| 16:77813551:G:GT | donor_gain | 1.0000 |
| 16:77816905:C:G | acceptor_gain | 1.0000 |
| 16:77816906:A:AG | acceptor_gain | 1.0000 |
| 16:77816906:ATTT:A | acceptor_gain | 1.0000 |
| 16:77816907:T:G | acceptor_gain | 1.0000 |
| 16:77816917:ACAGT:A | acceptor_gain | 1.0000 |
| 16:77816919:A:AG | acceptor_gain | 1.0000 |
| 16:77816919:AGT:A | acceptor_gain | 1.0000 |
| 16:77816919:AGTG:A | acceptor_gain | 1.0000 |
| 16:77816920:G:GT | acceptor_gain | 1.0000 |
| 16:77816920:GT:G | acceptor_gain | 1.0000 |
| 16:77816920:GTG:G | acceptor_gain | 1.0000 |
| 16:77816920:GTGG:G | acceptor_gain | 1.0000 |
| 16:77816920:GTGGA:G | acceptor_gain | 1.0000 |
| 16:77817046:ATGAG:A | donor_loss | 1.0000 |
| 16:77817047:TGAGG:T | donor_loss | 1.0000 |
| 16:77817048:GAGGT:G | donor_loss | 1.0000 |
| 16:77817049:AG:A | donor_loss | 1.0000 |
| 16:77817050:GGTAA:G | donor_loss | 1.0000 |
| 16:77817051:GTA:G | donor_loss | 1.0000 |
| 16:77817052:T:A | donor_loss | 1.0000 |
| 16:77825242:CCAG:C | acceptor_loss | 1.0000 |
| 16:77825244:A:AG | acceptor_gain | 1.0000 |
| 16:77825244:AGAT:A | acceptor_loss | 1.0000 |
| 16:77825244:AGATT:A | acceptor_gain | 1.0000 |
| 16:77825245:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2764 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:77816931:T:C | F82L | 0.999 |
| 16:77816933:C:A | F82L | 0.999 |
| 16:77816933:C:G | F82L | 0.999 |
| 16:77816995:G:A | G103E | 0.999 |
| 16:77817009:G:T | G108W | 0.999 |
| 16:77817010:G:A | G108E | 0.999 |
| 16:77817016:T:A | V110D | 0.999 |
| 16:77825285:T:A | W135R | 0.999 |
| 16:77825285:T:C | W135R | 0.999 |
| 16:77876456:G:A | G270E | 0.999 |
| 16:77876456:G:T | G270V | 0.999 |
| 16:77884668:G:T | G315W | 0.999 |
| 16:77884669:G:A | G315E | 0.999 |
| 16:77816930:C:A | N81K | 0.998 |
| 16:77816930:C:G | N81K | 0.998 |
| 16:77816938:A:T | D84V | 0.998 |
| 16:77816950:G:C | R88P | 0.998 |
| 16:77817003:T:C | C106R | 0.998 |
| 16:77825259:T:A | V126D | 0.998 |
| 16:77825288:G:C | A136P | 0.998 |
| 16:77825385:C:A | A168D | 0.998 |
| 16:77825433:T:A | V184E | 0.998 |
| 16:77825436:T:C | L185P | 0.998 |
| 16:77862749:G:A | G194D | 0.998 |
| 16:77862767:T:C | L200P | 0.998 |
| 16:77862771:T:G | C201W | 0.998 |
| 16:77862800:G:A | G211E | 0.998 |
| 16:77862819:G:C | K217N | 0.998 |
| 16:77862819:G:T | K217N | 0.998 |
| 16:77876401:G:C | D252H | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000007105 (16:77799328 T>C), RS1000015984 (16:77975120 G>A,T), RS1000037090 (16:77863871 G>A,T), RS1000056056 (16:77925558 C>G,T), RS1000079881 (16:77877196 G>T), RS1000086659 (16:77925474 A>G), RS1000088502 (16:77852739 C>G,T), RS1000100721 (16:77952164 T>A,C), RS1000105306 (16:77827512 G>A), RS1000119770 (16:77788633 C>T), RS1000134600 (16:77980285 A>C), RS1000137835 (16:77916096 G>A,C,T), RS1000138121 (16:77864110 T>C,G), RS1000160765 (16:77881442 G>A), RS1000170534 (16:77939811 G>C)
Disease associations
OMIM: gene MIM:620202 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): cerebellar ataxia (MONDO:0000437), intellectual disability (MONDO:0001071)
Orphanet (2): Rare ataxia (Orphanet:102002), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_37 | Alzheimer’s disease (cognitive decline) | 4.000000e-07 |
| GCST008152_185 | Weight | 8.000000e-06 |
| GCST008962_3 | Hematology traits | 5.000000e-07 |
| GCST009359_2 | LDL cholesterol levels x short total sleep time interaction (1df test) | 9.000000e-06 |
| GCST009365_4 | LDL cholesterol levels x short total sleep time interaction (2df test) | 1.000000e-11 |
| GCST009365_8 | LDL cholesterol levels x short total sleep time interaction (2df test) | 2.000000e-10 |
| GCST012168_8 | Adiponectin levels | 2.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004338 | body weight |
| EFO:0009186 | platelet larger cell ratio |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004502 | adiponectin measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002524 | Cerebellar Ataxia | C10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 7 |
| bisphenol A | decreases expression, increases expression | 3 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | affects methylation, decreases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, decreases expression, affects cotreatment | 2 |
| Temozolomide | decreases expression, affects response to substance | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| methylmercuric chloride | decreases expression | 1 |
| lead acetate | decreases expression | 1 |
| 2,5,2’,5’-tetrachlorobiphenyl | decreases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Carmustine | affects response to substance | 1 |
| Cisplatin | affects expression | 1 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00950196 | PHASE4 | COMPLETED | Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia |
| NCT04107740 | PHASE4 | COMPLETED | C-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration |
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT05744479 | PHASE4 | RECRUITING | Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability |
| NCT06107829 | PHASE4 | WITHDRAWN | Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities |
| NCT06997198 | PHASE4 | NOT_YET_RECRUITING | Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities |
| NCT01970098 | PHASE3 | COMPLETED | A Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970111 | PHASE3 | COMPLETED | An Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970124 | PHASE3 | COMPLETED | A Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01970137 | PHASE3 | COMPLETED | A 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT02889302 | PHASE3 | COMPLETED | An Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT03408080 | PHASE3 | ACTIVE_NOT_RECRUITING | Open Pilot Trial of BHV-4157 |
| NCT03701399 | PHASE3 | ACTIVE_NOT_RECRUITING | Troriluzole in Adult Participants With Spinocerebellar Ataxia |
| NCT03901638 | PHASE3 | TERMINATED | Tllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy |
| NCT07040137 | PHASE3 | RECRUITING | Confirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration |
| NCT02270736 | PHASE3 | COMPLETED | Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability |
| NCT00034242 | PHASE2 | COMPLETED | High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration |
| NCT00202397 | PHASE2 | COMPLETED | Effect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia |
| NCT00863538 | PHASE2 | COMPLETED | Phase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01004016 | PHASE2 | COMPLETED | A Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD) |
| NCT01350440 | PHASE2 | COMPLETED | Safety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia |
| NCT02540655 | PHASE2 | COMPLETED | Efficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia |
| NCT03932669 | PHASE2 | COMPLETED | Effect of Nilotinib in Cerebellar Ataxia Patients |
| NCT04301284 | PHASE2 | WITHDRAWN | Study of CAD-1883 for Spinocerebellar Ataxia |
| NCT05125666 | PHASE2 | UNKNOWN | Efficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection |
| NCT06397274 | PHASE2 | NOT_YET_RECRUITING | Stemchymal® for Polyglutamine Spinocerebellar Ataxia |
| NCT02304302 | PHASE2 | COMPLETED | Down Syndrome Memantine Follow-up Study |
| NCT03862950 | PHASE2 | COMPLETED | A Trial of Metformin in Individuals With Fragile X Syndrome (Met) |
| NCT04529226 | PHASE2 | UNKNOWN | Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis |
| NCT04821856 | PHASE2 | COMPLETED | Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability |
| NCT00683943 | PHASE1 | COMPLETED | Lithium Treatment for Patients With Spinocerebellar Ataxia Type I |
| NCT02287064 | PHASE1 | UNKNOWN | An Open-label Trial of Intravenous Immune Globulin (IVIG)in Treating Spinocerebellar Ataxias |
| NCT05157802 | PHASE1 | ACTIVE_NOT_RECRUITING | Promoting Physical Activity Engagement for People With Early-stage Cerebellar Ataxia |
| NCT05273320 | PHASE1 | COMPLETED | Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities |
| NCT05301361 | PHASE1 | ENROLLING_BY_INVITATION | Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities |
| NCT06016764 | PHASE1 | COMPLETED | Use of MRI and cTBS for Catatonia in Autism |
| NCT06586827 | PHASE1 | COMPLETED | Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD |
| NCT07531940 | PHASE1 | NOT_YET_RECRUITING | Escalating Doses of Memantine in Down Syndrome (MEDS-123) |
| NCT01104649 | PHASE2/PHASE3 | COMPLETED | Efficacy of Riluzole in Hereditary Cerebellar Ataxia |
| NCT02960893 | PHASE2/PHASE3 | COMPLETED | Trial in Adult Participants With Spinocerebellar Ataxia (SCA) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebellar ataxia