SAMTOR
gene geneOn this page
Also known as DKFZp762M126FLJ31818
Summary
SAMTOR (S-adenosylmethionine sensor upstream of mTORC1, HGNC:26475) is a protein-coding gene on chromosome 7q31.1, encoding S-adenosylmethionine sensor upstream of mTORC1 (Q1RMZ1). S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes.
Enables S-adenosyl-L-methionine binding activity. Involved in cellular response to amino acid starvation; cellular response to methionine; and positive regulation of TORC1 signaling. Predicted to be located in cytosol.
Source: NCBI Gene 154743 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 15 total — 1 pathogenic
- MANE Select transcript:
NM_152556
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26475 |
| Approved symbol | SAMTOR |
| Name | S-adenosylmethionine sensor upstream of mTORC1 |
| Location | 7q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp762M126, FLJ31818, SAMTOR |
| Ensembl gene | ENSG00000164603 |
| Ensembl biotype | protein_coding |
| OMIM | 617855 |
| Entrez | 154743 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000297145, ENST00000432572, ENST00000485446, ENST00000967777, ENST00000967778
RefSeq mRNA: 1 — MANE Select: NM_152556
NM_152556
CCDS: CCDS43634
Canonical transcript exons
ENST00000297145 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001249485 | 112819147 | 112822373 |
| ENSE00001893290 | 112939591 | 112939875 |
| ENSE00003461094 | 112915306 | 112915447 |
| ENSE00003602759 | 112895569 | 112895739 |
| ENSE00003684343 | 112832561 | 112832675 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 93.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.3163 / max 445.3931, expressed in 1784 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85773 | 14.1460 | 1781 |
| 85772 | 1.1702 | 715 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 93.80 | gold quality |
| cortical plate | UBERON:0005343 | 91.11 | gold quality |
| oocyte | CL:0000023 | 89.28 | gold quality |
| cartilage tissue | UBERON:0002418 | 89.09 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.31 | gold quality |
| embryo | UBERON:0000922 | 88.30 | gold quality |
| amniotic fluid | UBERON:0000173 | 88.27 | gold quality |
| ventricular zone | UBERON:0003053 | 87.63 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.56 | gold quality |
| heart right ventricle | UBERON:0002080 | 87.24 | gold quality |
| endothelial cell | CL:0000115 | 86.91 | gold quality |
| monocyte | CL:0000576 | 84.44 | gold quality |
| leukocyte | CL:0000738 | 84.09 | gold quality |
| calcaneal tendon | UBERON:0003701 | 83.95 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 83.75 | gold quality |
| myocardium | UBERON:0002349 | 83.51 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.42 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.40 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 83.11 | gold quality |
| upper leg skin | UBERON:0004262 | 82.98 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 82.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.87 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.75 | gold quality |
| stromal cell of endometrium | CL:0002255 | 81.30 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.92 | gold quality |
| cauda epididymis | UBERON:0004360 | 80.29 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 80.26 | gold quality |
| urinary bladder | UBERON:0001255 | 79.62 | gold quality |
| tibialis anterior | UBERON:0001385 | 79.47 | silver quality |
| skin of hip | UBERON:0001554 | 79.38 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.01 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
195 targeting SAMTOR, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
Literature-anchored findings (GeneRIF, showing 1)
- SAMTOR is a S-adenosylmethionine sensor that links methionine and one-carbon metabolism to mTORC1 signaling. (PMID:29123071)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | samtor | ENSDARG00000062181 |
| mus_musculus | Samtor | ENSMUSG00000042742 |
| rattus_norvegicus | Bmt2 | ENSRNOG00000007224 |
| drosophila_melanogaster | Samtor | FBGN0035035 |
Protein
Protein identifiers
S-adenosylmethionine sensor upstream of mTORC1 — Q1RMZ1 (reviewed: Q1RMZ1)
Alternative names: Probable methyltransferase BMT2 homolog
All UniProt accessions (2): Q1RMZ1, H0Y6Y0
UniProt curated annotations — full annotation on UniProt →
Function. S-adenosyl-L-methionine-binding protein that acts as an inhibitor of mTORC1 signaling via interaction with the GATOR1 and KICSTOR complexes. Acts as a sensor of S-adenosyl-L-methionine to signal methionine sufficiency to mTORC1: in presence of methionine, binds S-adenosyl-L-methionine, leading to disrupt interaction with the GATOR1 and KICSTOR complexes and promote mTORC1 signaling. Upon methionine starvation, S-adenosyl-L-methionine levels are reduced, thereby promoting the association with GATOR1 and KICSTOR, leading to inhibit mTORC1 signaling. Probably also acts as a S-adenosyl-L-methionine-dependent methyltransferase (Potential).
Subunit / interactions. Interacts with the DEPDC5 subunit of the GATOR1 complex; interaction is disrupted when SAMTOR binds S-adenosyl-L-methionine. Interacts with the KICSTOR complex; interaction is disrupted when SAMTOR binds S-adenosyl-L-methionine.
Similarity. Belongs to the BMT2/SAMTOR family.
RefSeq proteins (1): NP_689769* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR021867 | Bmt2/SAMTOR | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF11968
UniProt features (14 total): binding site 6, mutagenesis site 4, chain 1, region of interest 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9O5D | ELECTRON MICROSCOPY | 3.34 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q1RMZ1-F1 | 80.02 | 0.57 |
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 (6): 95; 172; 190; 202; 203; 244
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 175 | strongly decreased ability to associate with gator1 and kicstor complexes. |
| 190 | abolished binding to s-adenosyl-l-methionine without affecting ability to associate with gator1 and kicstor complexes. |
| 202 | abolished binding to s-adenosyl-l-methionine without affecting ability to associate with gator1 and kicstor complexes. |
| 95 | abolished binding to s-adenosyl-l-methionine without affecting ability to associate with gator1 and kicstor complexes. |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9639288 | Amino acids regulate mTORC1 |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9711097 | Cellular response to starvation |
MSigDB gene sets: 184 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_RESPONSE_TO_ACID_CHEMICAL, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_CELLULAR_RESPONSE_TO_ACID_CHEMICAL, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, AAACCAC_MIR140, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GTGTTGA_MIR505, ATTACAT_MIR3803P, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_NITROGEN_COMPOUND, HIF1_Q3, GOBP_CELLULAR_RESPONSE_TO_NUTRIENT
GO Biological Process (13): methylation (GO:0032259), cellular response to amino acid starvation (GO:0034198), cellular response to methionine (GO:0061431), regulation of TORC1 signaling (GO:1903432), negative regulation of TORC1 signaling (GO:1904262), positive regulation of TORC1 signaling (GO:1904263), cytoplasmic translation (GO:0002181), protein-containing complex localization (GO:0031503), cellular response to nutrient levels (GO:0031669), TORC1 signaling (GO:0038202), negative regulation of translational initiation (GO:0045947), positive regulation of translational initiation (GO:0045948), protein localization to lysosome (GO:0061462)
GO Molecular Function (4): methyltransferase activity (GO:0008168), protein-containing complex binding (GO:0044877), S-adenosyl-L-methionine binding (GO:1904047), transferase activity (GO:0016740)
GO Cellular Component (1): cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Cellular response to starvation | 1 |
| Cellular responses to stimuli | 1 |
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| TORC1 signaling | 3 |
| regulation of TORC1 signaling | 2 |
| translational initiation | 2 |
| regulation of translational initiation | 2 |
| metabolic process | 1 |
| cellular response to starvation | 1 |
| response to amino acid starvation | 1 |
| cellular response to nutrient | 1 |
| cellular response to amino acid stimulus | 1 |
| cellular response to nitrogen compound | 1 |
| cellular response to oxygen-containing compound | 1 |
| response to methionine | 1 |
| regulation of TOR signaling | 1 |
| negative regulation of TOR signaling | 1 |
| positive regulation of TOR signaling | 1 |
| translation | 1 |
| macromolecule localization | 1 |
| response to nutrient levels | 1 |
| cellular response to stimulus | 1 |
| TOR signaling | 1 |
| negative regulation of translation | 1 |
| positive regulation of translation | 1 |
| protein localization to vacuole | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| binding | 1 |
| cation binding | 1 |
| sulfur compound binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
686 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SAMTOR | ITFG2 | Q969R8 | 892 |
| SAMTOR | KICS2 | Q96MD2 | 891 |
| SAMTOR | NPRL2 | Q8WTW4 | 849 |
| SAMTOR | CASTOR1 | Q8WTX7 | 764 |
| SAMTOR | SESN2 | P58004 | 754 |
| SAMTOR | SZT2 | Q5T011 | 740 |
| SAMTOR | NPRL3 | Q12980 | 715 |
| SAMTOR | RRAGA | Q7L523 | 712 |
| SAMTOR | DEPDC5 | O75140 | 707 |
| SAMTOR | SLC38A9 | Q8NBW4 | 678 |
| SAMTOR | KPTN | Q9Y664 | 670 |
| SAMTOR | RASA1 | P20936 | 621 |
| SAMTOR | RRAGC | Q9HB90 | 597 |
| SAMTOR | RRAGB | Q5VZM2 | 509 |
| SAMTOR | WDR59 | Q6PJI9 | 505 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SAMTOR | DEPDC5 | psi-mi:“MI:0914”(association) | 0.640 |
| SAMTOR | PER1 | psi-mi:“MI:0914”(association) | 0.530 |
| SAMTOR | psi-mi:“MI:0915”(physical association) | 0.370 | |
| SAMTOR | MIF4GD | psi-mi:“MI:0914”(association) | 0.350 |
| SAMTOR | TMOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| DISC1 | SAMTOR | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (38): DEPDC5 (Affinity Capture-MS), SZT2 (Affinity Capture-MS), C12orf66 (Affinity Capture-MS), NPRL2 (Affinity Capture-MS), NPRL3 (Affinity Capture-MS), ACAD11 (Affinity Capture-MS), ITFG2 (Affinity Capture-MS), KPTN (Affinity Capture-MS), REN (Affinity Capture-MS), PER1 (Affinity Capture-MS), MIF4GD (Affinity Capture-MS), GRN (Affinity Capture-MS), MGEA5 (Affinity Capture-MS), TSR3 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS)
ESM2 similar proteins: A1KXW8, A6QL50, E1BGQ2, H0Y354, O94955, P47224, Q08326, Q0IIH8, Q1JQA1, Q1RMS8, Q1RMZ1, Q2TBU5, Q3T1H6, Q4R372, Q4R528, Q4R9C4, Q5F480, Q5F4A1, Q5I0G3, Q5RCQ0, Q5RFG8, Q5TFE4, Q5TYM5, Q641X7, Q6L9T8, Q6PIP5, Q7L622, Q7Z6J8, Q7ZX59, Q86X60, Q8BFZ8, Q8BKW4, Q8BM85, Q8BX13, Q8CEL2, Q8N5C7, Q8N635, Q8NHU2, Q8TCF1, Q8TCJ0
Diamond homologs: A4IIA7, Q0P410, Q1RMZ1, Q5ZJ87, Q66J91, Q8BXK4, Q9W138
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
15 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 441861 | GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1 | Pathogenic |
SpliceAI
1618 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:112822370:CACT:C | acceptor_gain | 1.0000 |
| 7:112822372:CT:C | acceptor_gain | 1.0000 |
| 7:112822373:TC:T | acceptor_loss | 1.0000 |
| 7:112822374:C:CC | acceptor_gain | 1.0000 |
| 7:112822374:C:CG | acceptor_loss | 1.0000 |
| 7:112822375:T:G | acceptor_loss | 1.0000 |
| 7:112832555:GCATA:G | donor_loss | 1.0000 |
| 7:112832556:CATA:C | donor_loss | 1.0000 |
| 7:112832557:ATACC:A | donor_loss | 1.0000 |
| 7:112832558:TA:T | donor_loss | 1.0000 |
| 7:112832559:A:C | donor_loss | 1.0000 |
| 7:112832674:ACCTA:A | acceptor_loss | 1.0000 |
| 7:112895563:ACTT:A | donor_loss | 1.0000 |
| 7:112895565:TTACT:T | donor_loss | 1.0000 |
| 7:112895566:TACT:T | donor_loss | 1.0000 |
| 7:112895567:A:AC | donor_gain | 1.0000 |
| 7:112895567:A:T | donor_loss | 1.0000 |
| 7:112895567:ACT:A | donor_gain | 1.0000 |
| 7:112895568:C:CA | donor_gain | 1.0000 |
| 7:112895568:CT:C | donor_gain | 1.0000 |
| 7:112895568:CTC:C | donor_gain | 1.0000 |
| 7:112895568:CTCA:C | donor_gain | 1.0000 |
| 7:112895568:CTCAG:C | donor_gain | 1.0000 |
| 7:112895736:TACA:T | acceptor_gain | 1.0000 |
| 7:112895737:ACA:A | acceptor_gain | 1.0000 |
| 7:112895738:CA:C | acceptor_gain | 1.0000 |
| 7:112895738:CAC:C | acceptor_gain | 1.0000 |
| 7:112895740:C:CC | acceptor_gain | 1.0000 |
| 7:112915301:CTTA:C | donor_loss | 1.0000 |
| 7:112915302:TTA:T | donor_loss | 1.0000 |
AlphaMissense
2673 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:112822075:G:T | A296D | 1.000 |
| 7:112822085:A:G | W293R | 1.000 |
| 7:112822085:A:T | W293R | 1.000 |
| 7:112822210:G:T | P251Q | 1.000 |
| 7:112822217:A:G | Y249H | 1.000 |
| 7:112822228:A:G | L245P | 1.000 |
| 7:112832580:T:A | D190V | 1.000 |
| 7:112832629:A:G | C174R | 1.000 |
| 7:112832630:G:C | S173R | 1.000 |
| 7:112832630:G:T | S173R | 1.000 |
| 7:112832632:T:G | S173R | 1.000 |
| 7:112832634:C:T | G172D | 1.000 |
| 7:112832635:C:G | G172R | 1.000 |
| 7:112832637:A:T | V171D | 1.000 |
| 7:112915350:C:A | W86C | 1.000 |
| 7:112915350:C:G | W86C | 1.000 |
| 7:112915352:A:G | W86R | 1.000 |
| 7:112915352:A:T | W86R | 1.000 |
| 7:112915366:A:C | L81W | 1.000 |
| 7:112915366:A:G | L81S | 1.000 |
| 7:112915374:C:A | M78I | 1.000 |
| 7:112915374:C:G | M78I | 1.000 |
| 7:112915374:C:T | M78I | 1.000 |
| 7:112915375:A:G | M78T | 1.000 |
| 7:112915384:G:T | A75D | 1.000 |
| 7:112915385:C:G | A75P | 1.000 |
| 7:112915387:T:C | Y74C | 1.000 |
| 7:112915388:A:G | Y74H | 1.000 |
| 7:112915425:C:A | W61C | 1.000 |
| 7:112915425:C:G | W61C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000009180 (7:112832831 A>G), RS1000052753 (7:112924116 C>T), RS1000068145 (7:112845114 G>A), RS1000099314 (7:112912673 C>A), RS1000182179 (7:112924423 A>G), RS1000202808 (7:112883331 C>G,T), RS1000213567 (7:112840168 C>G), RS1000276459 (7:112883651 C>T), RS1000300772 (7:112900714 G>A), RS1000313212 (7:112832471 C>T), RS1000318085 (7:112820113 C>G,T), RS1000367899 (7:112851764 G>C), RS1000376233 (7:112858264 A>G,T), RS1000396513 (7:112936597 A>C), RS1000397646 (7:112847516 T>C)
Disease associations
OMIM: gene MIM:617855 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000253_8 | Attention deficit hyperactivity disorder and conduct disorder | 5.000000e-06 |
| GCST005851_5 | Delirium | 1.000000e-07 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| 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
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 3 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| motexafin gadolinium | increases expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Silver | increases expression | 1 |
| Urethane | increases expression | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
Clinical trials (associated diseases)
202 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 |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
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Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): conduct disorder, delirium