NRDE2

Summary

NRDE2 (NRDE-2, necessary for RNA interference, domain containing, HGNC:20186) is a protein-coding gene on chromosome 14q32.11, encoding Nuclear exosome regulator NRDE2 (Q9H7Z3). Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

Involved in several processes, including RNA splicing; mRNA stabilization; and positive regulation of RNA export from nucleus. Located in nuclear speck and nucleolus.

Source: NCBI Gene 55051 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 220 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_017970

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20186
Approved symbol	NRDE2
Name	NRDE-2, necessary for RNA interference, domain containing
Location	14q32.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14051
Ensembl gene	ENSG00000119720
Ensembl biotype	protein_coding
OMIM	618631
Entrez	55051

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000354366, ENST00000553409, ENST00000554464, ENST00000555903, ENST00000556189, ENST00000557064, ENST00000557106, ENST00000557732, ENST00000612614, ENST00000628832, ENST00000880277, ENST00000967054

RefSeq mRNA: 1 — MANE Select: NM_017970 NM_017970

CCDS: CCDS9890

Canonical transcript exons

ENST00000354366 — 14 exons

Exon	Start	End
ENSE00001724111	90316578	90316811
ENSE00002489173	90331841	90331941
ENSE00002528221	90267860	90278461
ENSE00003483654	90279062	90279133
ENSE00003550904	90312394	90312543
ENSE00003558490	90318005	90318113
ENSE00003585656	90298260	90298380
ENSE00003589870	90286354	90286492
ENSE00003599658	90292697	90292872
ENSE00003607168	90288217	90289145
ENSE00003623868	90303935	90304382
ENSE00003667189	90302720	90303125
ENSE00003675248	90290221	90290607
ENSE00003691610	90301239	90301372

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 93.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.1490 / max 230.9802, expressed in 1787 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144455	11.2142	1771
144456	1.7297	1005
144457	0.2051	82

Top tissues by expression

254 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	93.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.83	gold quality
bone marrow cell	CL:0002092	85.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.76	gold quality
calcaneal tendon	UBERON:0003701	83.67	gold quality
right lobe of liver	UBERON:0001114	83.17	gold quality
muscle of leg	UBERON:0001383	82.57	gold quality
gastrocnemius	UBERON:0001388	82.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.81	gold quality
mucosa of transverse colon	UBERON:0004991	81.57	gold quality
islet of Langerhans	UBERON:0000006	81.17	gold quality
tendon	UBERON:0000043	81.10	gold quality
lower esophagus mucosa	UBERON:0035834	81.05	gold quality
apex of heart	UBERON:0002098	80.76	gold quality
monocyte	CL:0000576	80.46	gold quality
leukocyte	CL:0000738	80.37	gold quality
stromal cell of endometrium	CL:0002255	80.09	gold quality
tendon of biceps brachii	UBERON:0008188	80.04	silver quality
left lobe of thyroid gland	UBERON:0001120	80.02	gold quality
popliteal artery	UBERON:0002250	79.98	gold quality
tibial artery	UBERON:0007610	79.97	gold quality
ventricular zone	UBERON:0003053	79.95	gold quality
right lobe of thyroid gland	UBERON:0001119	79.89	gold quality
right adrenal gland cortex	UBERON:0035827	79.72	gold quality
adrenal tissue	UBERON:0018303	79.69	gold quality
endothelial cell	CL:0000115	79.68	gold quality
right adrenal gland	UBERON:0001233	79.60	gold quality
granulocyte	CL:0000094	79.54	gold quality
colonic epithelium	UBERON:0000397	79.42	gold quality
thyroid gland	UBERON:0002046	79.33	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.47

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting NRDE2, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-5583-3P	99.06	65.68	1018
HSA-MIR-648	98.64	66.13	553
HSA-MIR-599	98.32	66.99	1037
HSA-MIR-595	98.25	67.44	699
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-592	96.59	67.59	817

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 4)

• this study found that Mtr4 association with the human homolog of fission yeast Nrl1, NRDE-2, defines a novel function for Mtr4 in the DNA damage response pathway. (PMID:29902117)
• Our work establishes a conserved role for human NRDE2 in RNA splicing, characterizes the severe genomic instability phenotypes observed upon loss of NRDE2, and highlights the direct regulation of CEP131 splicing as one of multiple mechanisms through which such phenotypes might be explained. (PMID:30538148)
• NRDE2 interacts with MTR4’s key residues, locks MTR4 in a closed conformation, and inhibits MTR4 interaction with the exosome as well as proteins important for MTR4 recruitment (PMID:30842217)
• NRDE2 deficiency impairs homologous recombination repair and sensitizes hepatocellular carcinoma to PARP inhibitors. (PMID:38697125)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nrde2	ENSDARG00000074726
mus_musculus	Nrde2	ENSMUSG00000021179
rattus_norvegicus	Nrde2	ENSRNOG00000004004
drosophila_melanogaster	CG5877	FBGN0030625
caenorhabditis_elegans		WBGENE00011333

Protein

Protein identifiers

Nuclear exosome regulator NRDE2 — Q9H7Z3 (reviewed: Q9H7Z3)

Alternative names: Protein NRDE2 homolog

All UniProt accessions (4): Q9H7Z3, G3V338, H0YJT0, H0YJT6

UniProt curated annotations — full annotation on UniProt →

Function. Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation. Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation. Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome. By preventing the degradation of RNAs in the nucleus, it promotes their export to the cytoplasm. U5 snRNP-associated RNA splicing factor which is required for efficient splicing of CEP131 pre-mRNA and plays an important role in centrosome maturation, integrity and function during mitosis. Suppresses intron retention in a subset of pre-mRNAs containing short, GC-rich introns with relatively weak 5’ and 3’ splice sites. Plays a role in DNA damage response.

Subunit / interactions. Interacts with MTREX; the interaction is direct and stabilizes NRDE2. Interacts with EXOSC10, EFTUD2 and EIF4A3.

Subcellular location. Nucleus speckle. Nucleus. Nucleolus. Nucleoplasm.

Domain organisation. The MID/MTR4-interacting domain is necessary and sufficient to mediate interaction with MTREX.

Similarity. Belongs to the NRDE2 family.

RefSeq proteins (1): NP_060440* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR013633	NRDE-2	Family

Pfam: PF08424

UniProt features (30 total): repeat 5, region of interest 4, mutagenesis site 4, compositionally biased region 3, sequence variant 3, sequence conflict 3, helix 2, strand 2, initiator methionine 1, chain 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6IEH	X-RAY DIFFRACTION	2.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7Z3-F1	72.73	0.29

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 2

Mutagenesis-validated functional residues (4):

Position	Phenotype
163	loss of interaction with mtrex associated with decreased rnas stability; when associated with r-166; a-187 and e-189.
166	loss of interaction with mtrex associated with decreased rnas stability; when associated with a-163; a-187 and e-189.
187	loss of interaction with mtrex associated with decreased rnas stability; when associated with a-163; r-166 and e-189.
189	loss of interaction with mtrex associated with decreased rnas stability; when associated with a-163; r-166 and a-187.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, AACYNNNNTTCCS_UNKNOWN, GOBP_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_NUCLEAR_TRANSPORT, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, WANG_LMO4_TARGETS_DN, GOBP_REGULATION_OF_NUCLEOCYTOPLASMIC_TRANSPORT, GOBP_REGULATION_OF_CATABOLIC_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT

GO Biological Process (9): mitotic cell cycle (GO:0000278), mRNA processing (GO:0006397), DNA damage response (GO:0006974), RNA splicing (GO:0008380), regulatory ncRNA-mediated heterochromatin formation (GO:0031048), positive regulation of RNA export from nucleus (GO:0046833), mRNA stabilization (GO:0048255), cell division (GO:0051301), negative regulation of RNA catabolic process (GO:1902369)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
nuclear lumen	2
cell cycle	1
mitotic nuclear division	1
mRNA metabolic process	1
cellular response to stress	1
regulatory ncRNA-mediated gene silencing	1
heterochromatin formation	1
RNA export from nucleus	1
positive regulation of nucleobase-containing compound transport	1
positive regulation of nucleocytoplasmic transport	1
regulation of RNA export from nucleus	1
regulation of mRNA stability	1
RNA stabilization	1
negative regulation of mRNA catabolic process	1
cellular process	1
RNA catabolic process	1
negative regulation of catabolic process	1
negative regulation of RNA metabolic process	1
binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

1344 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NRDE2	ZFC3H1	O60293	709
NRDE2	MTREX	P42285	690
NRDE2	CRNKL1	Q9BZJ0	633
NRDE2	ZCCHC8	Q6NZY4	619
NRDE2	TBC1D10B	Q4KMP7	571
NRDE2	PSMC1	P49014	559
NRDE2	RBM7	Q9Y580	551
NRDE2	NOP53	Q9NZM5	530
NRDE2	UTP18	Q9Y5J1	529
NRDE2	ERI1	Q8IV48	528
NRDE2	ZCCHC7	Q8N3Z6	508
NRDE2	STK11IP	Q8N1F8	498
NRDE2	PIWIL4	Q7Z3Z4	490
NRDE2	CCDC174	Q6PII3	481
NRDE2	PIWIL1	Q96J94	478

IntAct

45 interactions, top by confidence:

A	B	Type	Score
RCOR3	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
NRDE2	SPG21	psi-mi:“MI:0915”(physical association)	0.560
NRDE2	LHX3	psi-mi:“MI:0915”(physical association)	0.560
ITGB3BP	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
MESD	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
NRDE2	VPS28	psi-mi:“MI:0915”(physical association)	0.560
HAUS8	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
UQCC2	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
CCDC183	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
ARFIP2	NRDE2	psi-mi:“MI:0915”(physical association)	0.560
NRDE2	RCOR3	psi-mi:“MI:0915”(physical association)	0.560
NRDE2	MED29	psi-mi:“MI:0915”(physical association)	0.560
EXOSC4	ZFC3H1	psi-mi:“MI:0914”(association)	0.530
ZNF32	NRDE2	psi-mi:“MI:0915”(physical association)	0.400
Sidt2	PRSS1	psi-mi:“MI:0914”(association)	0.350
VPS50	PHF20L1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATP6AP2	STX7	psi-mi:“MI:0914”(association)	0.350
RNPS1	WWP2	psi-mi:“MI:0914”(association)	0.350
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
UTP3	NACA	psi-mi:“MI:2364”(proximity)	0.270
RNPS1	NRDE2	psi-mi:“MI:0915”(physical association)	0.000
SPG21	NRDE2	psi-mi:“MI:0915”(physical association)	0.000
NRDE2	LHX3	psi-mi:“MI:0915”(physical association)	0.000
NRDE2	ITGB3BP	psi-mi:“MI:0915”(physical association)	0.000
NRDE2	MESD	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): NRDE2 (Affinity Capture-MS), NRDE2 (Co-fractionation), NRDE2 (Affinity Capture-MS), NRDE2 (Affinity Capture-MS), NRDE2 (Affinity Capture-MS), NRDE2 (Affinity Capture-RNA), NRDE2 (Affinity Capture-MS), NRDE2 (Two-hybrid), NRDE2 (Two-hybrid), NRDE2 (Two-hybrid), NRDE2 (Two-hybrid), NRDE2 (Two-hybrid), HAUS8 (Two-hybrid), ARFIP2 (Two-hybrid), UQCC2 (Two-hybrid)

ESM2 similar proteins: A0JM23, A2CEI4, A4IHY1, A7RV13, B1WC10, D4ACE5, E7FCN8, F6U5F9, O08658, O75800, P0CI65, P0DKR2, P57075, Q059U7, Q05AX3, Q08D69, Q15061, Q2I0E5, Q3U3W5, Q3U821, Q566H4, Q5REW9, Q5SUD9, Q5U1Z0, Q66H56, Q6AXZ5, Q6AZT7, Q6DFC6, Q6DG91, Q6GPP1, Q6NXR4, Q6P2P2, Q6PGF3, Q6ZQL4, Q6ZS30, Q7TNH6, Q7Z494, Q80XC6, Q8BGV4, Q8BMG7

Diamond homologs: Q80XC6, Q9H7Z3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

220 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	184
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1710322	NM_002802.3(PSMC1):c.983T>C (p.Ile328Thr)	Pathogenic

SpliceAI

3373 predictions. Top by Δscore:

Variant	Effect	Δscore
14:90268214:T:G	acceptor_gain	1.0000
14:90268223:GGTA:G	acceptor_gain	1.0000
14:90268410:AAAGG:A	donor_loss	1.0000
14:90268411:AAGGT:A	donor_loss	1.0000
14:90268414:GT:G	donor_loss	1.0000
14:90268415:T:A	donor_loss	1.0000
14:90269393:A:AG	acceptor_gain	1.0000
14:90269393:AAAG:A	acceptor_loss	1.0000
14:90269394:A:G	acceptor_gain	1.0000
14:90269394:AAGAT:A	acceptor_loss	1.0000
14:90269395:A:AG	acceptor_gain	1.0000
14:90269395:AGA:A	acceptor_loss	1.0000
14:90269396:G:GG	acceptor_gain	1.0000
14:90269396:GAT:G	acceptor_gain	1.0000
14:90269396:GATAT:G	acceptor_gain	1.0000
14:90269482:G:T	donor_gain	1.0000
14:90269546:CAGG:C	donor_loss	1.0000
14:90269548:GGTT:G	donor_loss	1.0000
14:90269549:G:C	donor_loss	1.0000
14:90269550:T:G	donor_gain	1.0000
14:90270190:A:AG	acceptor_gain	1.0000
14:90270191:C:G	acceptor_gain	1.0000
14:90270194:GCA:G	acceptor_loss	1.0000
14:90270196:A:AG	acceptor_gain	1.0000
14:90270196:A:C	acceptor_loss	1.0000
14:90270196:AG:A	acceptor_gain	1.0000
14:90270196:AGGCC:A	acceptor_gain	1.0000
14:90270197:G:GA	acceptor_gain	1.0000
14:90270197:GG:G	acceptor_gain	1.0000
14:90270197:GGC:G	acceptor_gain	1.0000

AlphaMissense

7718 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:90298314:A:G	W538R	0.999
14:90298314:A:T	W538R	0.999
14:90298312:C:A	W538C	0.998
14:90298312:C:G	W538C	0.998
14:90298359:A:G	W523R	0.998
14:90298359:A:T	W523R	0.998
14:90302921:A:G	W404R	0.996
14:90302921:A:T	W404R	0.996
14:90303958:A:G	W328R	0.996
14:90303958:A:T	W328R	0.996
14:90292801:A:G	W580R	0.995
14:90292801:A:T	W580R	0.995
14:90298313:C:G	W538S	0.995
14:90302879:A:G	W418R	0.995
14:90302879:A:T	W418R	0.995
14:90298305:A:G	W541R	0.994
14:90298305:A:T	W541R	0.994
14:90301301:C:G	A495P	0.994
14:90298334:C:T	G531E	0.993
14:90298357:C:A	W523C	0.993
14:90298357:C:G	W523C	0.993
14:90298360:A:C	F522L	0.993
14:90298360:A:T	F522L	0.993
14:90298362:A:G	F522L	0.993
14:90303014:C:G	A373P	0.993
14:90279088:C:G	A1115P	0.991
14:90289083:T:A	K764N	0.991
14:90289083:T:G	K764N	0.991
14:90298358:C:G	W523S	0.991
14:90303013:G:T	A373D	0.991

dbSNP variants (sampled 300 via entrez): RS1000042076 (14:90275683 G>A,C), RS1000080683 (14:90332311 A>G,T), RS1000110869 (14:90268708 G>A,T), RS1000120464 (14:90294256 T>A), RS1000134832 (14:90291265 A>G), RS1000210662 (14:90308972 G>A), RS1000214501 (14:90278120 C>T), RS1000256159 (14:90297713 C>A,G,T), RS1000289925 (14:90313218 C>T), RS1000376184 (14:90326525 G>A,C), RS1000470168 (14:90309798 C>T), RS1000492543 (14:90294545 C>A), RS1000566151 (14:90309537 C>A,G,T), RS1000592355 (14:90331947 C>G,T), RS1000624015 (14:90315798 A>G)

Disease associations

OMIM: gene MIM:618631 | disease phenotypes: MIM:620071

GenCC curated gene-disease

Mondo (3): neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss (MONDO:0859296), autism spectrum disorder (MONDO:0005258), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): NON RARE IN EUROPE: Autism (Orphanet:106)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000785_32	Longevity	1.000000e-06
GCST002846_7	Lifespan	2.000000e-09
GCST003875_14	Gut microbiota (bacterial taxa)	2.000000e-08
GCST004097_2	Response to platinum-based neoadjuvant chemotherapy in cervical cancer	7.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007874	gut microbiome measurement
EFO:0007883	taxonomic microbiome measurement
EFO:0007943	response to platinum-based neoadjuvant chemotherapy

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

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, decreases expression	6
Tobacco Smoke Pollution	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, increases expression	1
Formaldehyde	decreases expression	1
Methotrexate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Urethane	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder