RRP8

Summary

RRP8 (ribosomal RNA processing 8, HGNC:29030) is a protein-coding gene on chromosome 11p15.4, encoding Ribosomal RNA-processing protein 8 (O43159). Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes.

Enables methylated histone binding activity. Involved in several processes, including cellular response to glucose starvation; intrinsic apoptotic signaling pathway by p53 class mediator; and regulation of gene expression. Acts upstream of with a negative effect on regulation of G1 to G0 transition. Located in several cellular components, including cytosol; nuclear lumen; and rDNA heterochromatin. Part of eNoSc complex.

Source: NCBI Gene 23378 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_015324

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29030
Approved symbol	RRP8
Name	ribosomal RNA processing 8
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	NML
Ensembl gene	ENSG00000132275
Ensembl biotype	protein_coding
OMIM	615818
Entrez	23378

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000254605, ENST00000526352, ENST00000530762, ENST00000533907, ENST00000534343, ENST00000874194

RefSeq mRNA: 1 — MANE Select: NM_015324 NM_015324

CCDS: CCDS31411

Canonical transcript exons

ENST00000254605 — 7 exons

Exon	Start	End
ENSE00000695223	6595072	6600265
ENSE00000695228	6600486	6600582
ENSE00000695236	6600926	6601055
ENSE00000695239	6601149	6601602
ENSE00000695242	6601852	6602215
ENSE00002151724	6603404	6603616
ENSE00003537218	6600669	6600775

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 90.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.4029 / max 139.2396, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118434	12.6875	1805
118435	3.3629	1605
118433	1.3525	780

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
muscle layer of sigmoid colon	UBERON:0035805	90.84	gold quality
right lobe of liver	UBERON:0001114	88.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.65	gold quality
lower esophagus	UBERON:0013473	88.63	gold quality
lower esophagus mucosa	UBERON:0035834	88.37	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.34	gold quality
mucosa of transverse colon	UBERON:0004991	88.04	gold quality
popliteal artery	UBERON:0002250	87.75	gold quality
ventricular zone	UBERON:0003053	87.72	gold quality
tibial artery	UBERON:0007610	87.72	gold quality
granulocyte	CL:0000094	87.24	gold quality
body of uterus	UBERON:0009853	87.11	gold quality
sigmoid colon	UBERON:0001159	86.83	gold quality
aorta	UBERON:0000947	86.32	gold quality
right atrium auricular region	UBERON:0006631	86.06	gold quality
left coronary artery	UBERON:0001626	86.02	gold quality
esophagus	UBERON:0001043	85.97	gold quality
transverse colon	UBERON:0001157	85.71	gold quality
body of stomach	UBERON:0001161	85.70	gold quality
right coronary artery	UBERON:0001625	85.37	gold quality
left lobe of thyroid gland	UBERON:0001120	85.30	gold quality
skin of leg	UBERON:0001511	85.20	gold quality
body of pancreas	UBERON:0001150	85.03	gold quality
ectocervix	UBERON:0012249	85.02	gold quality
heart left ventricle	UBERON:0002084	85.00	gold quality
right lobe of thyroid gland	UBERON:0001119	84.98	gold quality
omental fat pad	UBERON:0010414	84.91	gold quality
coronary artery	UBERON:0001621	84.89	gold quality
peritoneum	UBERON:0002358	84.84	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): DNMT1, DNMT3A, DNMT3B, EZH2, KDM5C, KMT2A, NCOA1, NCOA2, NCOA3

miRNA regulators (miRDB)

15 targeting RRP8, 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-6778-3P	99.96	67.29	2693
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-1199-5P	98.44	66.51	829
HSA-MIR-6751-3P	98.44	66.35	835
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-148B-5P	97.29	66.30	992
HSA-MIR-4323	93.93	63.89	656
HSA-MIR-4732-5P	90.07	64.77	412

Literature-anchored findings (GeneRIF, showing 5)

• These observations suggest that NML may regulate consumption of hepatic triglyceride in liver regeneration after partial hepatectomy due to storage of excess ATP. (PMID:19819226)
• Data indicate that the the nucleomethylin (NML)-SirT1 interaction was competitively inhibited by rRNA. (PMID:23897426)
• Among Systemic lupus erythematosus patients, 63.6% and 45.5% of those with lupus nephritis were positive for anti-RRP8 and anti-TNP1 antibodies, compared with 12.5% and 9.4% of Systemic lupus erythematosus patients without nephritis, respectively. (PMID:26098692)
• Breast tumors without detectable nucleolar NML expression had poor survival. (PMID:26505814)
• NML depletion increases 60S ribosomal protein L11 (RPL11) levels in the ribosome-free fraction and protein levels of p53 through an RPL11-MDM2 complex, which activates the p53 pathway. (PMID:27149924)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rrp8	ENSDARG00000071652
mus_musculus	Rrp8	ENSMUSG00000030888
rattus_norvegicus	Rrp8	ENSRNOG00000018766
drosophila_melanogaster	CG7137	FBGN0034422
caenorhabditis_elegans		WBGENE00020296

Protein

Protein identifiers

Ribosomal RNA-processing protein 8 — O43159 (reviewed: O43159)

Alternative names: Cerebral protein 1, Nucleomethylin

All UniProt accessions (4): O43159, E9PPP6, E9PPY3, E9PS87

UniProt curated annotations — full annotation on UniProt →

Function. Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at ‘Lys-9’ (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown.

Subunit / interactions. Component of the eNoSC complex, composed of SIRT1, SUV39H1 and RRP8.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the methyltransferase superfamily. RRP8 family.

RefSeq proteins (1): NP_056139* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007823	RRP8	Family
IPR023576	UbiE/COQ5_MeTrFase_CS	Conserved_site
IPR029063	SAM-dependent_MTases_sf	Homologous_superfamily
IPR042036	RRP8_N	Homologous_superfamily

Pfam: PF05148

Enzyme classification (BRENDA):

• EC 2.1.1.B128 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

UniProt features (37 total): helix 9, strand 8, binding site 6, modified residue 6, compositionally biased region 3, region of interest 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2ZFU	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43159-F1	72.60	0.47

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): 347; 363; 281; 316; 334; 346

Post-translational modifications (6): 62, 64, 104, 171, 176, 223

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-427359	SIRT1 negatively regulates rRNA expression
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 145 (showing top): SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RIBOSOME_BIOGENESIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, NFKB_Q6, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_NUCLEUS_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, RADAEVA_RESPONSE_TO_IFNA1_UP, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR

GO Biological Process (11): rDNA heterochromatin formation (GO:0000183), rRNA processing (GO:0006364), methylation (GO:0032259), cellular response to glucose starvation (GO:0042149), negative regulation of cell cycle (GO:0045786), negative regulation of DNA-templated transcription (GO:0045892), regulation of transcription by glucose (GO:0046015), intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332), energy homeostasis (GO:0097009), regulation of G1 to G0 transition (GO:1903450), chromatin organization (GO:0006325)

GO Molecular Function (6): RNA binding (GO:0003723), methyltransferase activity (GO:0008168), histone H3K9me2/3 reader activity (GO:0062072), protein binding (GO:0005515), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), transferase activity (GO:0016740)

GO Cellular Component (8): nucleoplasm (GO:0005654), chromatin silencing complex (GO:0005677), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), rDNA heterochromatin (GO:0033553), eNoSc complex (GO:0061773), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Negative epigenetic regulation of rRNA expression	1
Gene expression (Transcription)	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	2
nuclear lumen	2
cellular anatomical structure	2
facultative heterochromatin formation	1
nucleolar chromatin organization	1
RNA processing	1
rRNA metabolic process	1
ribosome biogenesis	1
metabolic process	1
cellular response to starvation	1
cell cycle	1
negative regulation of cellular process	1
regulation of cell cycle	1
DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
signal transduction by p53 class mediator	1
intrinsic apoptotic signaling pathway	1
multicellular organismal-level homeostasis	1
regulation of cell cycle process	1
G1 to G0 transition	1
cellular component organization	1
nucleic acid binding	1
transferase activity, transferring one-carbon groups	1
histone H3 reader activity	1
binding	1
methyltransferase activity	1
catalytic activity	1
nuclear protein-containing complex	1
intracellular membraneless organelle	1
cytoplasm	1
membrane	1
cell periphery	1
heterochromatin	1
chromatin silencing complex	1
nucleolus	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1944 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RRP8	SIRT1	Q96EB6	960
RRP8	SUV39H1	O43463	945
RRP8	EMG1	Q92979	740
RRP8	BUD23	O43709	627
RRP8	NOP2	P46087	615
RRP8	TRMT61B	Q9BVS5	596
RRP8	TRMT6	Q9UJA5	595
RRP8	TRMT10C	Q7L0Y3	571
RRP8	NSUN5	Q96P11	553
RRP8	FTSJ3	Q8IY81	550
RRP8	NSUN6	Q8TEA1	540
RRP8	TRMT112	Q9UI30	532
RRP8	PDCD11	Q14690	518
RRP8	TRMT61A	Q96FX7	511
RRP8	RRP9	O43818	498

IntAct

245 interactions, top by confidence:

A	B	Type	Score
RPL10A	RRP8	psi-mi:“MI:0914”(association)	0.640
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
H1-1	RRP8	psi-mi:“MI:0914”(association)	0.640
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
NOL12	RRP8	psi-mi:“MI:0914”(association)	0.640
MECP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
RBM34	RRP8	psi-mi:“MI:0914”(association)	0.640
NPM1	NVL	psi-mi:“MI:0914”(association)	0.610
RRP8	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
RRP8	PICK1	psi-mi:“MI:0915”(physical association)	0.560
RRP8	DVL3	psi-mi:“MI:0915”(physical association)	0.560
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
H1-6	ZNF724	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
RBM34	NVL	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
H1-4	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ILF2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
RPL37A	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
ZNF2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530
RPL18	NOP56	psi-mi:“MI:0914”(association)	0.530
RSBN1	SETD1A	psi-mi:“MI:0914”(association)	0.530
MACROH2A2	PPM1G	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
MAK16	NVL	psi-mi:“MI:0914”(association)	0.530
ZNF71	NVL	psi-mi:“MI:0914”(association)	0.530
KNOP1	DHX15	psi-mi:“MI:0914”(association)	0.530

BioGRID (389): RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), RRP8 (Affinity Capture-MS), CENPV (Affinity Capture-MS), RRP8 (Affinity Capture-MS), SPTY2D1 (Affinity Capture-MS)

ESM2 similar proteins: B0K019, B2KF05, D3ZQL6, D4A615, D4ACP5, E1BBG2, O15037, O43159, O94762, P46087, Q07G43, Q15477, Q4KLL9, Q5REG4, Q5T124, Q5TKR9, Q5U4F0, Q5ZLK6, Q60739, Q6AXX1, Q6NZL6, Q6NZR5, Q6PFD6, Q6ZQF7, Q7L2J0, Q80U38, Q80V91, Q8BGT6, Q8BHW9, Q8BZ21, Q8C0J6, Q8C2K5, Q8CFK6, Q8IV53, Q8IY33, Q8K1S6, Q8K3A9, Q8N3F8, Q8N9I9, Q8TE77

Diamond homologs: A8XI07, G0S8E7, O43159, O44410, P38961, Q10257, Q54CP1, Q5U4F0, Q7K2B0, Q84JC0, Q9DB85

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 169 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of Senescence-Associated Heterochromatin Foci (SAHF)	6	37.7×	2e-07
Peptide chain elongation	22	26.1×	8e-24
Viral mRNA Translation	22	26.1×	8e-24
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	22	25.8×	9e-24
Selenocysteine synthesis	22	24.7×	2e-23
Eukaryotic Translation Termination	22	24.7×	2e-23
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	22	24.2×	2e-23
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	22	24.2×	2e-23

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of DNA recombination	7	51.4×	8e-09
chromosome condensation	7	38.5×	5e-08
cytoplasmic translation	23	27.8×	2e-24
positive regulation of viral genome replication	5	19.0×	5e-04
ribosomal large subunit biogenesis	6	17.4×	1e-04
negative regulation of viral genome replication	7	17.1×	2e-05
translation	24	16.1×	9e-20
ribosomal small subunit biogenesis	10	14.9×	2e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	5
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1036 predictions. Top by Δscore:

Variant	Effect	Δscore
11:6600483:CACCT:C	donor_loss	1.0000
11:6600484:A:AC	donor_gain	1.0000
11:6600484:ACCTT:A	donor_loss	1.0000
11:6600485:C:CC	donor_gain	1.0000
11:6600578:GACCC:G	acceptor_gain	1.0000
11:6600579:ACCC:A	acceptor_gain	1.0000
11:6600580:CCC:C	acceptor_gain	1.0000
11:6600580:CCCC:C	acceptor_gain	1.0000
11:6600581:CC:C	acceptor_gain	1.0000
11:6600581:CCC:C	acceptor_gain	1.0000
11:6600582:CC:C	acceptor_gain	1.0000
11:6600582:CCTG:C	acceptor_loss	1.0000
11:6600583:C:CC	acceptor_gain	1.0000
11:6600583:C:T	acceptor_gain	1.0000
11:6600665:TTAC:T	donor_loss	1.0000
11:6600666:TA:T	donor_loss	1.0000
11:6600667:A:AC	donor_gain	1.0000
11:6600667:AC:A	donor_gain	1.0000
11:6600668:C:CC	donor_gain	1.0000
11:6600668:C:CT	donor_loss	1.0000
11:6600668:CC:C	donor_gain	1.0000
11:6600693:T:TA	donor_gain	1.0000
11:6600776:C:CA	acceptor_loss	1.0000
11:6603399:CTCA:C	donor_loss	1.0000
11:6603400:TCA:T	donor_loss	1.0000
11:6603401:CACCT:C	donor_loss	1.0000
11:6603402:ACCT:A	donor_loss	1.0000
11:6603403:C:A	donor_loss	1.0000
11:6600509:G:C	donor_gain	0.9900
11:6600579:ACCCC:A	acceptor_gain	0.9900

AlphaMissense

2978 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:6601313:A:C	F251L	0.999
11:6601313:A:T	F251L	0.999
11:6601315:A:G	F251L	0.999
11:6600502:A:G	F412S	0.998
11:6600574:A:G	L388P	0.998
11:6600678:A:G	L382P	0.998
11:6601035:G:T	A313D	0.998
11:6601193:C:A	W291C	0.998
11:6601193:C:G	W291C	0.998
11:6601195:A:G	W291R	0.998
11:6601195:A:T	W291R	0.998
11:6601214:G:C	F284L	0.998
11:6601214:G:T	F284L	0.998
11:6601216:A:G	F284L	0.998
11:6600155:C:A	K454N	0.997
11:6600155:C:G	K454N	0.997
11:6600565:G:T	A391D	0.996
11:6600734:G:C	C363W	0.996
11:6600736:A:G	C363R	0.996
11:6601225:G:C	H281D	0.996
11:6601314:A:C	F251C	0.996
11:6600245:G:C	F424L	0.995
11:6600245:G:T	F424L	0.995
11:6600247:A:G	F424L	0.995
11:6600551:G:T	R396S	0.995
11:6600566:C:G	A391P	0.995
11:6600691:C:G	A378P	0.995
11:6601026:C:T	G316D	0.995
11:6601215:A:G	F284S	0.995
11:6601314:A:G	F251S	0.995

dbSNP variants (sampled 300 via entrez): RS1000056583 (11:6597313 G>A), RS1000701548 (11:6595547 C>A,T), RS1000835819 (11:6603746 G>C,T), RS1001247153 (11:6597847 G>A), RS1001394474 (11:6603883 G>A), RS1001426110 (11:6595481 CT>C), RS1001695414 (11:6599345 C>G), RS1001828815 (11:6603228 C>T), RS1002070165 (11:6603039 T>C), RS1002130273 (11:6598996 C>T), RS1002244822 (11:6599300 T>C), RS1003034945 (11:6600378 G>A,T), RS1003234445 (11:6604122 C>G,T), RS1003237073 (11:6604717 A>G), RS1003254434 (11:6599822 C>T)

Disease associations

OMIM: gene MIM:615818 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): autism spectrum disorder (MONDO:0005258)

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

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010725_20	Malaria	4.000000e-69
GCST010725_33	Malaria	2.000000e-67
GCST010725_51	Malaria	1.000000e-55

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
FR900359	affects phosphorylation	1
bisphenol A	decreases expression	1
deoxynivalenol	increases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
deguelin	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Leflunomide	increases expression	1
Antimycin A	increases expression	1
Caffeine	decreases phosphorylation	1
Catechin	affects cotreatment, decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	increases expression	1
Sodium Selenite	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