MAGEB2

Summary

MAGEB2 (MAGE family member B2, HGNC:6809) is a protein-coding gene on chromosome Xp21.2, encoding Melanoma-associated antigen B2 (O15479). May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases.

This gene is a member of the MAGEB gene family. The members of this family have their entire coding sequences located in the last exon, and the encoded proteins show 50 to 68% sequence identity to each other. The promoters and first exons of the MAGEB genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. This gene is localized in the DSS (dosage-sensitive sex reversal) critical region. It is expressed in testis and placenta, and in a significant fraction of tumors of various histological types. The MAGEB genes are clustered on chromosome Xp22-p21.

Source: NCBI Gene 4113 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total — 1 pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_002364

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6809
Approved symbol	MAGEB2
Name	MAGE family member B2
Location	Xp21.2
Locus type	gene with protein product
Status	Approved
Aliases	DAM6, MAGE-XP-2, MGC26438, CT3.2
Ensembl gene	ENSG00000099399
Ensembl biotype	protein_coding
OMIM	300098
Entrez	4113

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000378988

RefSeq mRNA: 1 — MANE Select: NM_002364 NM_002364

CCDS: CCDS14219

Canonical transcript exons

ENST00000378988 — 2 exons

Exon	Start	End
ENSE00001033585	30215563	30215655
ENSE00001479451	30218576	30220089

Expression profiles

Bgee: expression breadth broad, 36 present calls, max score 96.16.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.3106 / max 162.4997, expressed in 151 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
195841	2.0815	149
195842	0.2291	75

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.16	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.68	gold quality
right testis	UBERON:0004534	86.91	gold quality
testis	UBERON:0000473	85.98	gold quality
left testis	UBERON:0004533	85.39	gold quality
adult organism	UBERON:0007023	72.95	gold quality
pancreatic ductal cell	CL:0002079	59.39	silver quality
decidua	UBERON:0002450	56.55	gold quality
skin of hip	UBERON:0001554	54.11	gold quality
tibialis anterior	UBERON:0001385	53.57	silver quality
hair follicle	UBERON:0002073	52.43	gold quality
epithelial cell of pancreas	CL:0000083	51.09	silver quality
cranial nerve II	UBERON:0000941	50.98	gold quality
deltoid	UBERON:0001476	50.96	gold quality
upper leg skin	UBERON:0004262	50.85	silver quality
quadriceps femoris	UBERON:0001377	49.61	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
thymus	UBERON:0002370	48.90	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
vastus lateralis	UBERON:0001379	48.64	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
ileal mucosa	UBERON:0000331	48.24	silver quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	858.78
E-GEOD-134144	yes	30.15
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting MAGEB2, 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-371B-5P	99.99	75.34	4759
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-505-3P	99.19	69.71	896
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-887-5P	98.82	65.90	1347
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362

Literature-anchored findings (GeneRIF, showing 7)

• Results show that hypertonic culture medium differentially induces the expression of melanoma antigens B1 and B2 (MAGE-B1, -B2) in different human tumor cell lines. (PMID:12018852)
• Valproic acid causes a change in acetylation of this gene. (PMID:17012225)
• we identified MAGEB2 as activated by promoter demethylation in HNSCCand demonstrates growth promoting effects in a minimally transformed oral keratinocyte cell line. (PMID:23029077)
• MageB2 counteracts E2F inhibition by ribosomal proteins independently of Mdm2 expression (PMID:26468294)
• MAGEB2 can be aberrantly demethylated and expressed in malignant peripheral nerve sheath tumors. Conversely, the gene may not be demethylated in any types of neurofibroma, suggesting that the demethylation does not occur before malignant transformation. (PMID:26642794)
• Expression of the tumor-expressed protein MageB2 enhances rRNA transcription. (PMID:33741433)
• Cancer germline antigen gene MAGEB2 promotes cell invasion and correlates with immune microenvironment and immunotherapeutic efficiency in laryngeal cancer. (PMID:35618211)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndnl2	ENSDARG00000058212
mus_musculus	Mageb4	ENSMUSG00000035427
mus_musculus	Gm62087	ENSMUSG00000135153
rattus_norvegicus	Mageb1	ENSRNOG00000038267
rattus_norvegicus	Mageb7	ENSRNOG00000042751
rattus_norvegicus	AABR07038553.1	ENSRNOG00000048202
rattus_norvegicus		ENSRNOG00000076083
drosophila_melanogaster	MAGE	FBGN0037481

Paralogs (37): MAGEC2 (ENSG00000046774), TRO (ENSG00000067445), MAGED2 (ENSG00000102316), MAGEB4 (ENSG00000120289), MAGEA9 (ENSG00000123584), MAGEA10 (ENSG00000124260), MAGEA4 (ENSG00000147381), MAGED4 (ENSG00000154545), MAGEC1 (ENSG00000155495), MAGEA8 (ENSG00000156009), MAGEC3 (ENSG00000165509), MAGEB6 (ENSG00000176746), MAGEB18 (ENSG00000176774), MAGEF1 (ENSG00000177383), MAGEB10 (ENSG00000177689), MAGED1 (ENSG00000179222), NDN (ENSG00000182636), MAGEB17 (ENSG00000182798), MAGEA2B (ENSG00000183305), NSMCE3 (ENSG00000185115), MAGEA11 (ENSG00000185247), MAGEE2 (ENSG00000186675), MAGED4B (ENSG00000187243), MAGEH1 (ENSG00000187601), MAGEB5 (ENSG00000188408), MAGEB16 (ENSG00000189023), MAGEA6 (ENSG00000197172), MAGEA1 (ENSG00000198681), MAGEB3 (ENSG00000198798), MAGEE1 (ENSG00000198934), MAGEA12 (ENSG00000213401), MAGEB1 (ENSG00000214107), MAGEA3 (ENSG00000221867), MAGEB6B (ENSG00000232030), MAGEL2 (ENSG00000254585), MAGEA9B (ENSG00000267978), MAGEA2 (ENSG00000268606)

Protein

Protein identifiers

Melanoma-associated antigen B2 — O15479 (reviewed: O15479)

Alternative names: Cancer/testis antigen 3.2, DSS-AHC critical interval MAGE superfamily 6, MAGE XP-2 antigen, MAGE-B2 antigen

All UniProt accessions (1): O15479

UniProt curated annotations — full annotation on UniProt →

Function. May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.

Subunit / interactions. Interacts with TRIM28.

Tissue specificity. Expressed in testis and placenta, and in a significant fraction of tumors of various histologic types.

RefSeq proteins (1): NP_002355* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002190	MHD_dom	Domain
IPR021072	MAGE_N	Domain
IPR037445	MAGE	Family
IPR041898	MAGE_WH1	Homologous_superfamily
IPR041899	MAGE_WH2	Homologous_superfamily

Pfam: PF01454, PF12440

UniProt features (11 total): compositionally biased region 4, sequence variant 2, modified residue 2, chain 1, domain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15479-F1	72.43	0.22

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 (2): 77, 105

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 53 (showing top): ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_99, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, KORKOLA_EMBRYONIC_CARCINOMA_VS_SEMINOMA_DN, YAGI_AML_WITH_T_8_21_TRANSLOCATION, chrXp21, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOBP_NEGATIVE_REGULATION_OF_NUCLEOBASE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ZHONG_RESPONSE_TO_AZACITIDINE_AND_TSA_UP, TRIP13_TARGET_GENES, MIR4311, MIR345_3P, MIR342_3P

GO Biological Process (1): negative regulation of transcription by RNA polymerase II (GO:0000122)

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

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

586 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAGEB2	PDILT	Q8N807	608
MAGEB2	GAGE4	P0DSO3	571
MAGEB2	NAP1L3	Q99457	493
MAGEB2	CPXCR1	Q8N123	492
MAGEB2	SPANXD	Q9BXN6	479
MAGEB2	PAGE2B	Q5JRK9	477
MAGEB2	FTHL17	Q9BXU8	476
MAGEB2	HDAC1	Q13547	463
MAGEB2	TGM4	P49221	447
MAGEB2	GAGE2A	Q6NT46	447
MAGEB2	SPANXC	Q9NY87	438
MAGEB2	NAP1L2	Q9ULW6	437
MAGEB2	PNPLA4	P41247	436
MAGEB2	SPANXA1	Q9NS26	434
MAGEB2	SSX1	Q16384	427

IntAct

168 interactions, top by confidence:

A	B	Type	Score
MAGEB2	FUS	psi-mi:“MI:0915”(physical association)	0.680
IMP3	MPHOSPH10	psi-mi:“MI:0914”(association)	0.670
MAGEB2	RPGRIP1	psi-mi:“MI:0915”(physical association)	0.560
RPGRIP1	MAGEB2	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	ZBED1	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	ARID3A	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	ECSIT	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	TXN2	psi-mi:“MI:0915”(physical association)	0.560
MAGEB2	CCNL2	psi-mi:“MI:0915”(physical association)	0.560
RPL28	MAGEB2	psi-mi:“MI:0914”(association)	0.560
RPS14	MAGEB2	psi-mi:“MI:0914”(association)	0.560
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
DDX31	MAGEB2	psi-mi:“MI:0914”(association)	0.530
RRP8	MAGEB2	psi-mi:“MI:0914”(association)	0.530
CDKN2AIP	MAGEB2	psi-mi:“MI:0914”(association)	0.530
KNOP1	MAGEB2	psi-mi:“MI:0914”(association)	0.530
RSBN1	MAGEB2	psi-mi:“MI:0914”(association)	0.530
GLYR1	MAGEB2	psi-mi:“MI:0914”(association)	0.530
SRP68	MAGEB2	psi-mi:“MI:0914”(association)	0.530
FCF1	MAGEB2	psi-mi:“MI:0914”(association)	0.530
STRBP	MAGEB2	psi-mi:“MI:0914”(association)	0.530
MAGEB2	TRIM28	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (405): RPGRIP1 (Two-hybrid), MAGEB2 (Affinity Capture-MS), MAGEB2 (Affinity Capture-MS), HDAC1 (Reconstituted Complex), MAGEB2 (Affinity Capture-Western), MAGEB2 (Affinity Capture-Western), HDAC1 (Affinity Capture-Western), MAGEB2 (Affinity Capture-MS), MAGEB2 (Affinity Capture-MS), MAGEB2 (Affinity Capture-RNA), MAGEB2 (Affinity Capture-MS), USP7 (Affinity Capture-MS), RPS3A (Affinity Capture-MS), RPL23A (Affinity Capture-MS), RPS19 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A8MXT2, B2KFW1, O15479, O15480, O15481, O15553, P0C6Y7, P10073, P17040, P25233, P43355, P43356, P43357, P43358, P43360, P43362, P43363, P43364, P43366, Q13342, Q16666, Q4R998, Q5PPP4, Q5RD14, Q6AY37, Q6PCZ4, Q8BQR7, Q8IWY8, Q8IX06, Q8N660, Q8N7X4, Q8TD90, Q96DU7, Q96LZ2, Q96M61, Q99608

Diamond homologs: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A6NCF6, A6QLI5, A8MXT2, O15479, O15480, O15481, O60732, P25233, P43355, P43356, P43357, P43358, P43360, P43361, P43362, P43363, P43364, P43365, P43366, Q12816, Q4R998, Q5PPP4, Q5RFC2, Q6AY37, Q6ITT4, Q6PCZ4, Q8BQR7, Q8N7X4, Q8TD90, Q8TD91, Q96JG8, Q96LZ2, Q96M61, Q96MG7, Q99608, Q9BE18

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 150 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
Peptide chain elongation	38	45.1×	2e-53
Viral mRNA Translation	38	45.1×	2e-53
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	38	44.6×	2e-53
Selenocysteine synthesis	38	42.7×	1e-52
Eukaryotic Translation Termination	38	42.7×	1e-52
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	38	41.8×	2e-52
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	38	41.8×	2e-52
Formation of a pool of free 40S subunits	38	39.8×	2e-51

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	39	51.2×	1e-55
translation	38	27.7×	2e-42
ribosomal small subunit biogenesis	17	27.5×	7e-18
maturation of SSU-rRNA	5	27.2×	9e-05
ribosomal large subunit biogenesis	8	25.2×	1e-07
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	5	23.9×	1e-04
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	5	14.2×	1e-03
rRNA processing	14	14.1×	2e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	47
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
444070	NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del	Pathogenic

SpliceAI

263 predictions. Top by Δscore:

Variant	Effect	Δscore
X:30218564:T:A	acceptor_gain	1.0000
X:30215651:TCAAG:T	donor_loss	0.9900
X:30215652:CAAGG:C	donor_loss	0.9900
X:30215653:AAGG:A	donor_loss	0.9900
X:30215654:AGGT:A	donor_loss	0.9900
X:30215656:GT:G	donor_loss	0.9900
X:30215657:T:G	donor_loss	0.9900
X:30215782:A:T	donor_gain	0.9900
X:30218558:A:AG	acceptor_gain	0.9900
X:30218559:T:G	acceptor_gain	0.9900
X:30218565:G:A	acceptor_gain	0.9900
X:30218574:A:AG	acceptor_gain	0.9900
X:30218575:G:GG	acceptor_gain	0.9900
X:30218557:C:G	acceptor_gain	0.9800
X:30218575:GCC:G	acceptor_gain	0.9800
X:30215661:GACCC:G	donor_gain	0.9700
X:30218571:C:G	acceptor_gain	0.9700
X:30218571:CCCA:C	acceptor_loss	0.9600
X:30218572:CCA:C	acceptor_loss	0.9600
X:30218573:CAGCC:C	acceptor_loss	0.9600
X:30218574:A:C	acceptor_loss	0.9600
X:30218575:GC:G	acceptor_gain	0.9600
X:30218575:GCCAT:G	acceptor_gain	0.9600
X:30218570:A:AG	acceptor_gain	0.9500
X:30218575:GCCA:G	acceptor_gain	0.9500
X:30215656:G:GG	donor_gain	0.9200
X:30215781:G:GT	donor_gain	0.8900
X:30218556:A:AG	acceptor_gain	0.8800
X:30215756:AAGCC:A	donor_gain	0.8300
X:30215630:A:G	donor_gain	0.7700

AlphaMissense

2076 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:30219070:T:C	F164L	0.951
X:30219072:T:A	F164L	0.951
X:30219072:T:G	F164L	0.951
X:30219451:T:C	F291L	0.950
X:30219453:T:A	F291L	0.950
X:30219453:T:G	F291L	0.950
X:30219256:T:C	F226L	0.946
X:30219258:C:A	F226L	0.946
X:30219258:C:G	F226L	0.946
X:30219403:T:A	W275R	0.931
X:30219403:T:C	W275R	0.931
X:30219435:G:C	K285N	0.928
X:30219435:G:T	K285N	0.928
X:30219487:T:C	F303L	0.925
X:30219489:C:A	F303L	0.925
X:30219489:C:G	F303L	0.925
X:30218941:T:C	F121L	0.902
X:30218943:C:A	F121L	0.902
X:30218943:C:G	F121L	0.902
X:30218604:G:C	K8N	0.901
X:30218604:G:T	K8N	0.901
X:30219301:T:C	F241L	0.901
X:30219303:T:A	F241L	0.901
X:30219303:T:G	F241L	0.901
X:30219397:T:C	F273L	0.901
X:30219399:C:A	F273L	0.901
X:30219399:C:G	F273L	0.901
X:30219013:T:C	F145L	0.896
X:30219015:C:A	F145L	0.896
X:30219015:C:G	F145L	0.896

dbSNP variants (sampled 300 via entrez): RS1000097469 (X:30214656 G>A), RS1000125655 (X:30215760 C>G,T), RS1000302479 (X:30215326 G>A), RS1000734359 (X:30217052 A>G), RS1001000592 (X:30216748 G>A), RS1001865908 (X:30217809 T>A), RS1002059980 (X:30218692 G>C), RS1002960917 (X:30219502 G>A,C), RS1003874810 (X:30218292 C>G,T), RS1004708704 (X:30219609 C>T), RS1004757475 (X:30219964 A>C), RS1006225941 (X:30216428 G>A), RS1006764550 (X:30215626 G>A), RS1007012019 (X:30215553 G>A), RS1007043110 (X:30215319 G>C)

Disease associations

OMIM: gene MIM:300098 | disease phenotypes: MIM:209850, MIM:300200

GenCC curated gene-disease

Mondo (2): autism (MONDO:0005260), X-linked adrenal hypoplasia congenita (MONDO:0010264)

Orphanet (1): X-linked adrenal hypoplasia congenita (Orphanet:95702)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	3
Decitabine	increases expression	2
sulforaphane	decreases expression	1
bleomycetin	decreases expression	1
ICG 001	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Fluorouracil	decreases expression, affects response to substance	1
Plant Extracts	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Silicon Dioxide	increases expression	1
S-Nitrosoglutathione	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With 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
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
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
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents
NCT00065962	PHASE3	COMPLETED	Secretin for the Treatment of Autism
NCT00252603	PHASE3	COMPLETED	Galantamine Versus Placebo in Childhood Autism
NCT00346736	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00352248	PHASE3	COMPLETED	Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder
NCT00352352	PHASE3	COMPLETED	Use of Acupuncture In Children With Autistic Spectrum Disorder
NCT00355329	PHASE3	COMPLETED	Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation
NCT00498173	PHASE3	COMPLETED	Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism
NCT00541346	PHASE3	COMPLETED	A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms