QTMAN
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Also known as FLJ11753Hmat-Xa
Summary
QTMAN (queuosine-tRNA mannosyltransferase, HGNC:20887) is a protein-coding gene on chromosome 2q22.3, encoding tRNA-queuosine alpha-mannosyltransferase (Q4AE62). Glycosyltransferase that specifically catalyzes mannosylation of cytoplasmic tRNA(Asp) modified with queuosine at position 34 (queuosine(34)).
Enables tRNA-queuosine(34) beta-mannosyltransferase activity. Involved in regulation of translation and tRNA modification. Located in nucleus. Is active in cytoplasm.
Source: NCBI Gene 79712 — RefSeq curated summary.
At a glance
- Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
- GWAS associations: 5
- Clinical variants (ClinVar): 61 total — 5 pathogenic
- MANE Select transcript:
NM_001376312
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20887 |
| Approved symbol | QTMAN |
| Name | queuosine-tRNA mannosyltransferase |
| Location | 2q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11753, Hmat-Xa |
| Ensembl gene | ENSG00000121964 |
| Ensembl biotype | protein_coding |
| OMIM | 610165 |
| Entrez | 79712 |
Gene structure
Transcript identifiers
Ensembl transcripts: 70 — 62 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000241391, ENST00000344850, ENST00000392867, ENST00000392869, ENST00000392871, ENST00000409214, ENST00000409298, ENST00000415569, ENST00000417450, ENST00000429978, ENST00000437114, ENST00000463875, ENST00000467352, ENST00000476958, ENST00000482601, ENST00000482961, ENST00000484303, ENST00000491448, ENST00000542155, ENST00000618778, ENST00000682281, ENST00000909683, ENST00000909684, ENST00000909685, ENST00000909686, ENST00000909687, ENST00000909688, ENST00000909689, ENST00000909690, ENST00000909691, ENST00000909692, ENST00000909693, ENST00000909694, ENST00000909695, ENST00000909696, ENST00000909697, ENST00000909698, ENST00000909699, ENST00000909700, ENST00000909701, ENST00000909702, ENST00000909703, ENST00000909704, ENST00000909705, ENST00000909706, ENST00000909707, ENST00000909708, ENST00000909709, ENST00000909710, ENST00000909711, ENST00000927177, ENST00000970677, ENST00000970678, ENST00000970679, ENST00000970680, ENST00000970681, ENST00000970682, ENST00000970683, ENST00000970684, ENST00000970685, ENST00000970686, ENST00000970687, ENST00000970688, ENST00000970689, ENST00000970690, ENST00000970691, ENST00000970692, ENST00000970693, ENST00000970694, ENST00000970695
RefSeq mRNA: 45 — MANE Select: NM_001376312
NM_001006636, NM_001164629, NM_001284233, NM_001284234, NM_001284235, NM_001284238, NM_001354350, NM_001354351, NM_001354352, NM_001354353, NM_001354354, NM_001354355, NM_001354356, NM_001354358, NM_001354360, NM_001354361, NM_001354362, NM_001376306, NM_001376307, NM_001376308, NM_001376309, NM_001376310, NM_001376311, NM_001376312, NM_001376313, NM_001376314, NM_001376315, NM_001376316, NM_001376317, NM_001376318, NM_001376319, NM_001376320, NM_001376321, NM_001376322, NM_001376323, NM_001376324, NM_001376325, NM_001376326, NM_001376327, NM_001376328, NM_001376329, NM_001376330, NM_001376331, NM_001376332, NM_024659
CCDS: CCDS2185, CCDS33300, CCDS63029, CCDS74582, CCDS74583, CCDS86884
Canonical transcript exons
ENST00000682281 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001427596 | 144235676 | 144235737 |
| ENSE00001428859 | 144211515 | 144211579 |
| ENSE00003462813 | 143957195 | 143957339 |
| ENSE00003548808 | 143951982 | 143952073 |
| ENSE00003550835 | 143952773 | 143952843 |
| ENSE00003608794 | 144007182 | 144007535 |
| ENSE00003643796 | 143970653 | 143970762 |
| ENSE00003673505 | 144145572 | 144145739 |
| ENSE00003679156 | 144208603 | 144208804 |
| ENSE00003706057 | 143938068 | 143947135 |
| ENSE00003788524 | 144141882 | 144142055 |
| ENSE00003920010 | 144332439 | 144332512 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 93.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6086 / max 108.5483, expressed in 1738 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 30908 | 4.8678 | 1535 |
| 30909 | 2.3183 | 1183 |
| 30906 | 1.1941 | 668 |
| 30907 | 0.2284 | 92 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 93.34 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.26 | gold quality |
| sural nerve | UBERON:0015488 | 93.21 | gold quality |
| postcentral gyrus | UBERON:0002581 | 92.45 | gold quality |
| corpus callosum | UBERON:0002336 | 92.43 | gold quality |
| parietal lobe | UBERON:0001872 | 91.12 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.99 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 90.88 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 90.88 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.55 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.55 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.39 | gold quality |
| tendon | UBERON:0000043 | 90.08 | gold quality |
| tibial nerve | UBERON:0001323 | 90.07 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.95 | gold quality |
| monocyte | CL:0000576 | 89.77 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.63 | gold quality |
| mononuclear cell | CL:0000842 | 89.62 | gold quality |
| spinal cord | UBERON:0002240 | 89.53 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.46 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.43 | gold quality |
| leukocyte | CL:0000738 | 89.23 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 89.23 | gold quality |
| frontal cortex | UBERON:0001870 | 89.18 | gold quality |
| neocortex | UBERON:0001950 | 89.11 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.89 | gold quality |
| amygdala | UBERON:0001876 | 88.88 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.69 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.68 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ENAD-17 | no | 250.63 |
| E-ANND-3 | no | 6.64 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting QTMAN, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-6817-3P | 99.79 | 68.35 | 2126 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-2681-5P | 99.75 | 67.64 | 1655 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-9851-3P | 99.63 | 69.68 | 1110 |
| HSA-MIR-1287-3P | 99.63 | 66.93 | 492 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
Literature-anchored findings (GeneRIF, showing 4)
- relatively high expression level in the adult lung, spleen, testis, and peripheral blood leukocyte. (PMID:15068588)
- The elevated expression of the Hmat-Xa gene (GTDC1) might serve as a candidate marker for colon adenocarcinoma. (PMID:21821951)
- By deriving iPSCs from this patient and differentiating them into neural progenitor cells (NPCs) and neurons we dissected the disease process at the cellular level and observed defects in both NPCs and neuronal cells. We also showed that disruption of GTDC1 expression in wild type human NPCs and neurons showed a similar phenotype as patient’s iPSCs (PMID:28365779)
- Genomewide linkage scan by a targeted, high-density association scan for genetic variants enhancing persistently negative tuberculin skin test (PTST) in two independent Ugandan tuberculosis household cohorts. Association found with SNPs in neighboring genes ZEB2 and GTDC1 supported by both samples. Bioinformatic analysis suggests these variants may affect PTST- by regulating the histone deacetylase pathway. (PMID:30100616)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gtdc1 | ENSDARG00000020642 |
| mus_musculus | Gtdc1 | ENSMUSG00000036890 |
| rattus_norvegicus | Gtdc1 | ENSRNOG00000031038 |
| drosophila_melanogaster | CG15914 | FBGN0030700 |
Protein
Protein identifiers
tRNA-queuosine alpha-mannosyltransferase — Q4AE62 (reviewed: Q4AE62)
Alternative names: Glycosyltransferase-like domain-containing protein 1, Mannosyltransferase-like protein Xa, Mat-Xa
All UniProt accessions (5): B8ZZ45, C9J2C5, C9JIH3, Q4AE62, F2Z2V8
UniProt curated annotations — full annotation on UniProt →
Function. Glycosyltransferase that specifically catalyzes mannosylation of cytoplasmic tRNA(Asp) modified with queuosine at position 34 (queuosine(34)). Mannosylates the cyclopentene moiety of queuosine(34) in tRNA(Asp) to form mannosyl-queuosine(34). Mannosylation of queuosine(34) in tRNA(Asp) is required to slow-down elongation at cognate codons, GAC and GAU, thereby regulating protein translation.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitous. Expressed at high levels in the lung, brain, spleen, testis, placenta. ovary, pancreas, spleen and peripheral blood leukocytes. Expressed at low level in the colon, small intestine, kidney, skeletal muscle and thymus. Expressed at high level in colon adenocarcinoma.
Similarity. Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q4AE62-1 | 1 | yes |
| Q4AE62-2 | 2 | |
| Q4AE62-3 | 3 | |
| Q4AE62-4 | 4, c | |
| Q4AE62-5 | 5, f | |
| Q4AE62-6 | 6, d |
RefSeq proteins (45): NP_001006637, NP_001158101, NP_001271162, NP_001271163, NP_001271164, NP_001271167, NP_001341279, NP_001341280, NP_001341281, NP_001341282, NP_001341283, NP_001341284, NP_001341285, NP_001341287, NP_001341289, NP_001341290, NP_001341291, NP_001363235, NP_001363236, NP_001363237, NP_001363238, NP_001363239, NP_001363240, NP_001363241, NP_001363242, NP_001363243, NP_001363244, NP_001363245, NP_001363246, NP_001363247, NP_001363248, NP_001363249, NP_001363250, NP_001363251, NP_001363252, NP_001363253, NP_001363254, NP_001363255, NP_001363256, NP_001363257, NP_001363258, NP_001363259, NP_001363260, NP_001363261, NP_078935 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001296 | Glyco_trans_1 | Domain |
| IPR022701 | QTMAN_N | Domain |
| IPR051862 | GT-like_domain_containing_1 | Family |
Pfam: PF00534, PF12038
Catalyzed reactions (Rhea), 1 shown:
- queuosine(34) in tRNA(Asp) + GDP-alpha-D-mannose = O-4’’-alpha-D-mannosylqueuosine(34) in tRNA(Asp) + GDP + H(+) (RHEA:12885)
UniProt features (10 total): splice variant 6, chain 1, region of interest 1, compositionally biased region 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q4AE62-F1 | 83.04 | 0.73 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 182 (showing top):
AGGAAGC_MIR5163P, GOBP_TRNA_METABOLIC_PROCESS, TAL1ALPHAE47_01, ACTGCAG_MIR173P, CHANDRAN_METASTASIS_DN, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, chr2q22, ATTCTTT_MIR186, MYOD_Q6, TCCAGAG_MIR518C, CCAGGTT_MIR490, CTTTGTA_MIR524, GOBP_TRNA_PROCESSING
GO Biological Process (3): tRNA wobble guanine modification (GO:0002099), tRNA modification (GO:0006400), regulation of translation (GO:0006417)
GO Molecular Function (3): tRNA-queuosine(34) beta-mannosyltransferase activity (GO:0016438), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA wobble base modification | 1 |
| tRNA processing | 1 |
| RNA modification | 1 |
| translation | 1 |
| post-transcriptional regulation of gene expression | 1 |
| regulation of protein metabolic process | 1 |
| mannosyltransferase activity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| catalytic activity | 1 |
| transferase activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
678 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| QTMAN | ARHGAP15 | Q53QZ3 | 716 |
| QTMAN | KYNU | Q16719 | 523 |
| QTMAN | LYPD6B | Q8NI32 | 475 |
| QTMAN | ZNF592 | Q92610 | 458 |
| QTMAN | MMADHC | Q9H3L0 | 452 |
| QTMAN | KRTAP13-4 | Q3LI77 | 447 |
| QTMAN | HEATR3 | Q7Z4Q2 | 434 |
| QTMAN | EPC2 | Q52LR7 | 423 |
| QTMAN | ORC4 | O43929 | 423 |
| QTMAN | ZEB2 | O60315 | 393 |
| QTMAN | WWOX | Q9NZC7 | 381 |
| QTMAN | C2CD2 | Q9Y426 | 372 |
| QTMAN | THSD7B | Q9C0I4 | 372 |
| QTMAN | KIF5C | O60282 | 371 |
| QTMAN | FAM47A | Q5JRC9 | 369 |
IntAct
0 interactions, top by confidence:
BioGRID (3): GTDC1 (Reconstituted Complex), GTDC1 (Affinity Capture-RNA), APP (Reconstituted Complex)
ESM2 similar proteins: A1JNX9, B0BBT2, B4JLX2, B8DGI9, C1L148, F4HVY0, F4IR05, O06752, O31425, O31656, O31811, O32057, O34703, O34830, O42411, P0ADR8, P0ADR9, P0ADS0, P0ADS1, P0DPS8, P0DPS9, P39612, P39622, P44308, P44898, P50732, P72097, P76361, P94362, P96685, Q04974, Q08DA7, Q17A75, Q21534, Q2G0E1, Q2QEI3, Q3KM61, Q4AE62, Q4L977, Q4V7R4
Diamond homologs: Q08DA7, Q4AE62, Q4V7R4, Q53E76, Q568B7, Q5ZI40, Q66K99, Q8BW56, Q9VXN0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 5 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 149932 | GRCh38/hg38 2q22.3(chr2:144213114-144668146)x1 | Pathogenic |
| 441877 | GRCh37/hg19 2q22.3(chr2:144796786-145564689)x1 | Pathogenic |
| 60213 | GRCh38/hg38 2q22.3(chr2:143873711-144513307)x1 | Pathogenic |
| 60214 | GRCh38/hg38 2q22.3(chr2:143988786-144558029)x1 | Pathogenic |
| 60215 | GRCh38/hg38 2q22.3(chr2:144164576-144505879)x1 | Pathogenic |
SpliceAI
4261 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:144011671:A:AC | donor_gain | 1.0000 |
| 2:144011672:C:CC | donor_gain | 1.0000 |
| 2:144141921:TGGC:T | donor_gain | 1.0000 |
| 2:144141945:T:A | donor_gain | 1.0000 |
| 2:144142051:CCAGG:C | acceptor_gain | 1.0000 |
| 2:144142052:CAGG:C | acceptor_gain | 1.0000 |
| 2:144142052:CAGGC:C | acceptor_gain | 1.0000 |
| 2:144142053:AGG:A | acceptor_gain | 1.0000 |
| 2:144142054:GG:G | acceptor_gain | 1.0000 |
| 2:144142054:GGCTG:G | acceptor_loss | 1.0000 |
| 2:144142055:GC:G | acceptor_loss | 1.0000 |
| 2:144142056:C:CC | acceptor_gain | 1.0000 |
| 2:144142057:T:C | acceptor_loss | 1.0000 |
| 2:144145568:CTACC:C | donor_loss | 1.0000 |
| 2:144145570:A:AC | donor_gain | 1.0000 |
| 2:144145571:C:CC | donor_gain | 1.0000 |
| 2:144145611:T:A | donor_gain | 1.0000 |
| 2:144208614:A:AC | donor_gain | 1.0000 |
| 2:144208615:C:CC | donor_gain | 1.0000 |
| 2:144208804:CCTA:C | acceptor_loss | 1.0000 |
| 2:144208805:C:CC | acceptor_gain | 1.0000 |
| 2:144208805:CTAA:C | acceptor_loss | 1.0000 |
| 2:144211513:A:AC | donor_gain | 1.0000 |
| 2:144211514:C:CC | donor_gain | 1.0000 |
| 2:144211514:CTT:C | donor_gain | 1.0000 |
| 2:144211514:CTTCT:C | donor_gain | 1.0000 |
| 2:144211576:CAAT:C | acceptor_gain | 1.0000 |
| 2:143952069:TTCAG:T | acceptor_gain | 0.9900 |
| 2:143952071:CAG:C | acceptor_gain | 0.9900 |
| 2:143952074:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000011880 (2:144276134 A>G), RS1000014900 (2:144016506 G>A,T), RS1000026340 (2:144143083 A>T), RS1000046499 (2:144326494 G>C), RS1000051523 (2:144060084 T>A), RS1000055588 (2:144104602 C>T), RS1000061747 (2:144171867 A>G), RS1000062448 (2:144095924 G>A), RS1000065330 (2:144247169 C>G,T), RS1000069774 (2:143966600 C>T), RS1000081326 (2:144153440 T>C), RS1000085480 (2:144016407 T>C), RS1000093361 (2:144273271 C>T), RS1000096065 (2:144067878 T>C), RS1000116617 (2:144237923 G>A,C)
Disease associations
OMIM: gene MIM:610165 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| neurodevelopmental disorder | Limited | Autosomal dominant |
Mondo (2): myoepithelial tumor (MONDO:0002380), neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_776 | Obesity-related traits | 8.000000e-06 |
| GCST003989_19 | Chin dimples | 4.000000e-15 |
| GCST008491_1 | Voxel-wise structural brain imaging measurements in Alzheimer’s disease | 5.000000e-07 |
| GCST009438_3 | Voxel-wise structural brain imaging measurements in Alzheimer’s disease | 3.000000e-06 |
| GCST009597_289 | Multiple sclerosis | 2.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003939 | energy intake |
| EFO:0004346 | neuroimaging measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009208 | Myoepithelioma | C04.557.435.585 |
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 6 |
| Valproic Acid | affects expression, decreases expression | 4 |
| Aflatoxin B1 | decreases expression, decreases methylation | 3 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation, increases expression | 2 |
| Vehicle Emissions | decreases methylation, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Cisplatin | decreases expression, affects cotreatment | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
Clinical trials (associated diseases)
207 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
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Related Atlas pages
- Associated diseases: neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): myoepithelial tumor