BEX2

Summary

BEX2 (brain expressed X-linked 2, HGNC:30933) is a protein-coding gene on chromosome Xq22.2, encoding Protein BEX2 (Q9BXY8). Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer.

This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 84707 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 40 total — 1 pathogenic
• MANE Select transcript: NM_032621

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30933
Approved symbol	BEX2
Name	brain expressed X-linked 2
Location	Xq22.2
Locus type	gene with protein product
Status	Approved
Aliases	DJ79P11.1
Ensembl gene	ENSG00000133134
Ensembl biotype	protein_coding
OMIM	300691
Entrez	84707

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 15 protein_coding

ENST00000372674, ENST00000372677, ENST00000449185, ENST00000536889, ENST00000880036, ENST00000880037, ENST00000880038, ENST00000911968, ENST00000911969, ENST00000911970, ENST00000911971, ENST00000911972, ENST00000911973, ENST00000911974, ENST00000946186

RefSeq mRNA: 4 — MANE Select: NM_032621 NM_001168399, NM_001168400, NM_001168401, NM_032621

CCDS: CCDS14505, CCDS55467

Canonical transcript exons

ENST00000372677 — 3 exons

Exon	Start	End
ENSE00001458371	103309346	103309981
ENSE00001458422	103310860	103310990
ENSE00003591930	103310358	103310433

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 99.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.1837 / max 3327.7631, expressed in 1313 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
199992	55.5748	1293
199993	2.6090	672

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.15	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.12	gold quality
pons	UBERON:0000988	99.08	gold quality
adenohypophysis	UBERON:0002196	98.95	gold quality
prefrontal cortex	UBERON:0000451	98.94	gold quality
nucleus accumbens	UBERON:0001882	98.93	gold quality
middle temporal gyrus	UBERON:0002771	98.93	gold quality
superior vestibular nucleus	UBERON:0007227	98.93	gold quality
cerebellar vermis	UBERON:0004720	98.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.89	gold quality
superior frontal gyrus	UBERON:0002661	98.88	gold quality
frontal cortex	UBERON:0001870	98.86	gold quality
pituitary gland	UBERON:0000007	98.84	gold quality
hypothalamus	UBERON:0001898	98.83	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.83	gold quality
occipital lobe	UBERON:0002021	98.77	gold quality
entorhinal cortex	UBERON:0002728	98.74	gold quality
primary visual cortex	UBERON:0002436	98.72	gold quality
right frontal lobe	UBERON:0002810	98.72	gold quality
cerebral cortex	UBERON:0000956	98.71	gold quality
neocortex	UBERON:0001950	98.71	gold quality
parietal lobe	UBERON:0001872	98.68	gold quality
kidney epithelium	UBERON:0004819	98.62	gold quality
temporal lobe	UBERON:0001871	98.61	gold quality
forebrain	UBERON:0001890	98.61	gold quality
postcentral gyrus	UBERON:0002581	98.61	gold quality
cerebellum	UBERON:0002037	98.59	gold quality
ventral tegmental area	UBERON:0002691	98.58	gold quality
cerebellar cortex	UBERON:0002129	98.57	gold quality
cerebellar hemisphere	UBERON:0002245	98.57	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	871.07
E-GEOD-134144	yes	39.90
E-HCAD-10	yes	35.87
E-HCAD-6	yes	34.81
E-CURD-114	yes	20.42
E-ANND-3	yes	17.69
E-MTAB-5061	yes	14.50
E-MTAB-7316	yes	13.98
E-MTAB-9388	yes	11.71
E-GEOD-84465	yes	6.68
E-GEOD-125970	yes	4.68
E-MTAB-6524	no	209.17
E-HCAD-31	no	1.95

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): JUN, LMO2, RELA

miRNA regulators (miRDB)

31 targeting BEX2, 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-4262	100.00	73.26	3931
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-5581-3P	98.55	70.31	1161
HSA-MIR-7114-3P	98.42	66.53	569
HSA-MIR-1180-5P	98.16	65.32	460
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-320E	97.49	65.96	865
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-6872-3P	97.08	66.99	750

Literature-anchored findings (GeneRIF, showing 17)

• hBex2 may act as a specific regulator during embryonic development by modulating the transcriptional activity of a novel E-box sequence-binding complex that contains hBex2, LMO2, NSCL2 and LDB1. (PMID:16314316)
• Two novel brain expressed genes, BEX1 and BEX2 are identified; they are silenced in all glioma specimens and exhibit extensive promoter hypermethylation. (PMID:16818640)
• Correlation between BEX2 expression and mixed lineage leukemia chromosomal aberrations are shown in the cell lines. (PMID:17251904)
• a NGF/BEX2/NF-kappaB pathway is involved in regulating apoptosis in breast cancer cells and in modulating response to tamoxifen in primary tumors (PMID:17638883)
• BEX2 is implicated in oligodendroglioma biology. (PMID:19412433)
• These results suggest that the conspicuous expression of the tumor suppressor genes BEX2, IGSF4 and TIMP3 in MLLmu acute myeloid leukemias cell lines is the consequence of altered epigenetic properties of MLL fusion proteins. (PMID:19835597)
• BEX2 has a functional interplay with c-Jun and p65/RelA in breast cancer. (PMID:20482821)
• BEX2 overexpression was associated with breast cancer. (PMID:21384344)
• Both BEX2 and INI1/hSNF5 mainly localized in cell nucleus. (PMID:22698742)
• Bex2 overexpression promoted cell migration and invasion in glioma cell lines. (PMID:22907646)
• Bex2 may be an important player during the development of glioma (PMID:23022184)
• The study reveals that BEX2 promotes colorectal cancer cell proliferation via the JNK/c-Jun pathway, suggesting BEX2 as a potential candidate target for the treatment of CRC. (PMID:28367093)
• MiR-370 could downregulate BEX2 gene. (PMID:31530937)
• Induced pluripotent stem cells established from a female patient with Xq22 deletion confirm that BEX2 escapes from X-chromosome inactivation. (PMID:33244819)
• BEX2 suppresses mitochondrial activity and is required for dormant cancer stem cell maintenance in intrahepatic cholangiocarcinoma. (PMID:33299012)
• BEX2 is required for maintaining dormant cancer stem cell in hepatocellular carcinoma. (PMID:34424582)
• Crotonylated BEX2 interacts with NDP52 and enhances mitophagy to modulate chemotherapeutic agent-induced apoptosis in non-small-cell lung cancer cells. (PMID:37777549)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Bex2	ENSMUSG00000042750
mus_musculus	Bex1	ENSMUSG00000050071
rattus_norvegicus	Bex2	ENSRNOG00000032729
rattus_norvegicus	LOC100912195	ENSRNOG00000033844
rattus_norvegicus		ENSRNOG00000082512

Paralogs (3): BEX1 (ENSG00000133169), BEX3 (ENSG00000166681), BEX5 (ENSG00000184515)

Protein

Protein identifiers

Protein BEX2 — Q9BXY8 (reviewed: Q9BXY8)

Alternative names: Brain-expressed X-linked protein 2

All UniProt accessions (2): Q9BXY8, X6RDN0

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer. Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti-apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA. Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A. Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity. In absence of reductive stress, acts as a pseudosubstrate for the CRL2(FEM1B) complex: associates with FEM1B via zinc, thereby preventing association between FEM1B and its substrates.

Subunit / interactions. Interacts with LMO2, possibly leading to regulate the transcriptional activity of a DNA-binding complex containing LMO2. Interacts with OMP.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Expressed in central nervous system, with high level in pituitary, cerebellum and temporal lobe. Widely expressed in breast cancer cell lines.

Domain organisation. The histidine cluster (His cluster) and Cys-125 mediate zinc-binding.

Similarity. Belongs to the BEX family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BXY8-1	1	yes
Q9BXY8-2	2

RefSeq proteins (4): NP_001161871, NP_001161872, NP_001161873, NP_116010* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007623	BEX	Family
IPR021156	TF_A-like/BEX	Family

Pfam: PF04538

UniProt features (7 total): region of interest 2, chain 1, compositionally biased region 1, binding site 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXY8-F1	68.93	0.08

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 (1): 125

Post-translational modifications (1): 50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 126 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GCANCTGNY_MYOD_Q6, GCM_ZNF198, CAGCTG_AP4_Q5, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, PATIL_LIVER_CANCER, GOBP_REGULATION_OF_CELL_CYCLE, HFH8_01, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MYOD_Q6, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, NRF2_Q4, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, VECCHI_GASTRIC_CANCER_EARLY_DN, FREAC7_01

GO Biological Process (5): apoptotic process (GO:0006915), signal transduction (GO:0007165), negative regulation of protein ubiquitination (GO:0031397), regulation of apoptotic process (GO:0042981), regulation of cell cycle (GO:0051726)

GO Molecular Function (4): signaling receptor binding (GO:0005102), metal ion binding (GO:0046872), molecular function inhibitor activity (GO:0140678), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cellular process	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cell communication	1
cellular process	1
signaling	1
cellular response to stimulus	1
protein ubiquitination	1
regulation of protein ubiquitination	1
negative regulation of protein modification by small protein conjugation or removal	1
apoptotic process	1
regulation of programmed cell death	1
cell cycle	1
protein binding	1
cation binding	1
molecular function regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

730 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BEX2	LMO2	P25791	896
BEX2	LDB2	O43679	875
BEX2	LDB1	Q86U70	869
BEX2	NHLH2	Q02577	834
BEX2	CALML6	Q8TD86	736
BEX2	CALML3	P27482	736
BEX2	CALML5	Q9NZT1	736
BEX2	CALML4	Q96GE6	736
BEX2	CALM1	P02593	662
BEX2	OMP	P47874	583
BEX2	TCEAL5	Q5H9L2	520
BEX2	TCEAL3	Q969E4	517
BEX2	NGFR	P08138	491
BEX2	NGF	P01138	490
BEX2	TCEAL9	Q9UHQ7	454

IntAct

272 interactions, top by confidence:

A	B	Type	Score
KRTAP10-8	BEX2	psi-mi:“MI:0915”(physical association)	0.720
BEX2	TRAF2	psi-mi:“MI:0915”(physical association)	0.720
BEX2	MKRN3	psi-mi:“MI:0915”(physical association)	0.720
KRT31	BEX2	psi-mi:“MI:0915”(physical association)	0.720
BEX2	CEP70	psi-mi:“MI:0915”(physical association)	0.720
BLZF1	BEX2	psi-mi:“MI:0915”(physical association)	0.720
BEX2	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
MKRN3	BEX2	psi-mi:“MI:0915”(physical association)	0.720
BEX2	BLZF1	psi-mi:“MI:0915”(physical association)	0.720
TRAF2	BEX2	psi-mi:“MI:0915”(physical association)	0.720
BEX2	KRT31	psi-mi:“MI:0915”(physical association)	0.720
CEP70	BEX2	psi-mi:“MI:0915”(physical association)	0.720
MDFI	BEX2	psi-mi:“MI:0915”(physical association)	0.600
BEX2	TRIM42	psi-mi:“MI:0915”(physical association)	0.560
BEX2	FSD2	psi-mi:“MI:0915”(physical association)	0.560
NECAB2	BEX2	psi-mi:“MI:0915”(physical association)	0.560
BEX2	KRT38	psi-mi:“MI:0915”(physical association)	0.560
TRIM27	BEX2	psi-mi:“MI:0915”(physical association)	0.560
BEX2	KRT15	psi-mi:“MI:0915”(physical association)	0.560
BEX2	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (122): BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid), BEX2 (Two-hybrid)

ESM2 similar proteins: A0A1B0GVZ2, A0A2B4SJZ1, A3KGA4, B0BK70, D3ZT37, O55527, O74982, P03246, P03247, P03407, P04602, P04862, P05860, P05909, P06747, P0C569, P0C783, P12479, P14253, P15829, P16286, P19032, P20885, P22385, P22745, P24103, P31278, P69479, P69480, P69738, Q0GBX8, Q2PG52, Q2TBV0, Q38036, Q4VKV7, Q6I7R5, Q6W0C5, Q82855, Q873B8, Q89868

Diamond homologs: Q00994, Q2PG52, Q2TBV0, Q3MKP9, Q3MKQ1, Q3MKQ2, Q3ZBJ6, Q3ZBJ9, Q5H9J7, Q5R590, Q6PDU5, Q9BXY8, Q9CWT2, Q9HBH7, Q9NWD9, Q9R224, Q9WTZ8, Q9WTZ9, Q3TZW7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 76 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
Keratinization	19	25.2×	1e-20
Formation of the cornified envelope	10	20.9×	1e-09

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	9	49.1×	2e-11
intermediate filament organization	10	38.2×	2e-11
epithelial cell differentiation	8	22.3×	3e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	29
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1077188	Single allele	Pathogenic

SpliceAI

358 predictions. Top by Δscore:

Variant	Effect	Δscore
X:103309977:TACTC:T	acceptor_gain	1.0000
X:103309979:CTC:C	acceptor_gain	1.0000
X:103310354:TGAC:T	donor_loss	1.0000
X:103310356:ACCT:A	donor_loss	1.0000
X:103310366:AT:A	donor_gain	1.0000
X:103310445:C:CT	acceptor_gain	1.0000
X:103309980:TC:T	acceptor_gain	0.9900
X:103309981:CC:C	acceptor_gain	0.9900
X:103309982:C:CC	acceptor_gain	0.9900
X:103310356:A:AC	donor_gain	0.9900
X:103310357:C:CC	donor_gain	0.9900
X:103310441:C:CT	acceptor_gain	0.9900
X:103310442:G:T	acceptor_gain	0.9900
X:103310445:C:T	acceptor_gain	0.9900
X:103310446:G:T	acceptor_gain	0.9900
X:103309991:A:T	acceptor_gain	0.9800
X:103310367:T:TA	donor_gain	0.9800
X:103309990:C:CT	acceptor_gain	0.9700
X:103310431:AACC:A	acceptor_loss	0.9700
X:103310432:ACC:A	acceptor_loss	0.9700
X:103310433:CCTG:C	acceptor_loss	0.9700
X:103310434:C:CA	acceptor_loss	0.9700
X:103310435:T:G	acceptor_loss	0.9700
X:103310656:T:TA	donor_gain	0.9700
X:103310908:T:TA	donor_gain	0.9700
X:103310434:C:CC	acceptor_gain	0.9500
X:103310437:C:CT	acceptor_gain	0.9500
X:103310632:G:A	donor_gain	0.9400
X:103309982:C:T	acceptor_gain	0.9300
X:103310429:CAAAC:C	acceptor_gain	0.9300

AlphaMissense

865 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:103309605:A:C	F124L	0.992
X:103309605:A:T	F124L	0.992
X:103309607:A:G	F124L	0.992
X:103309606:A:C	F124C	0.958
X:103309606:A:G	F124S	0.957
X:103309594:G:T	P128H	0.952
X:103309641:G:C	S112R	0.950
X:103309641:G:T	S112R	0.950
X:103309643:T:G	S112R	0.950
X:103309597:A:G	M127T	0.943
X:103309602:G:C	C125W	0.939
X:103309693:A:G	L95P	0.938
X:103309604:A:G	C125R	0.934
X:103309600:A:G	L126P	0.933
X:103309600:A:T	L126H	0.932
X:103309656:A:C	S107R	0.929
X:103309656:A:T	S107R	0.929
X:103309658:T:G	S107R	0.929
X:103309595:G:A	P128S	0.924
X:103309681:A:G	L99P	0.922
X:103309594:G:C	P128R	0.915
X:103309594:G:A	P128L	0.897
X:103309595:G:T	P128T	0.897
X:103309645:A:T	V111D	0.887
X:103309596:C:A	M127I	0.872
X:103309596:C:G	M127I	0.872
X:103309596:C:T	M127I	0.872
X:103309607:A:C	F124V	0.872
X:103309603:C:T	C125Y	0.865
X:103309607:A:T	F124I	0.849

dbSNP variants (sampled 300 via entrez): RS1000016198 (X:103310599 A>G), RS1003392636 (X:103310956 G>C), RS1006008883 (X:103312841 C>T), RS1007187201 (X:103311480 T>C), RS1007468585 (X:103312100 A>G), RS1008276789 (X:103311711 A>G), RS1008863425 (X:103309227 ATTTAC>A), RS1010720882 (X:103311414 G>A), RS1011167669 (X:103312022 C>G), RS1012795543 (X:103310993 T>C), RS1012909207 (X:103310886 G>T), RS1015122067 (X:103310200 A>C,T), RS1018106610 (X:103309443 G>C,T), RS1019364108 (X:103311725 T>C), RS1021355466 (X:103312681 T>G)

Disease associations

OMIM: gene MIM:300691 | disease phenotypes: MIM:312080, MIM:312920

GenCC curated gene-disease

Mondo (2): Pelizaeus-Merzbacher spectrum disorder (MONDO:0010714), hereditary spastic paraplegia 2 (MONDO:0010733)

Orphanet (2): Pelizaeus-Merzbacher disease (Orphanet:702), Spastic paraplegia type 2 (Orphanet:99015)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020371	Pelizaeus-Merzbacher Disease	C10.228.140.163.100.362.775; C10.228.140.695.625.775; C10.314.400.775; C16.320.322.906; C16.320.565.189.362.775; C18.452.132.100.362.775; C18.452.648.189.362.775

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

58 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	6
Cyclosporine	increases expression	3
bisphenol A	affects expression, increases expression	2
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	decreases expression, increases expression	2
Estradiol	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
propionaldehyde	increases expression	1
terbufos	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
dimethylselenide	increases expression, increases oxidation	1
beta-lapachone	increases expression	1
o,p’-DDT	increases expression	1
boron nitride	increases expression	1
butyraldehyde	increases expression	1
3,4,3’,4’-tetrachlorobiphenyl	affects expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
cupric oxide	increases expression	1
beta-methylcholine	affects expression	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment, decreases expression	1
nutlin 3	increases expression, affects cotreatment	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
licochalcone B	increases expression	1
NSC 689534	affects binding, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07382739	PHASE2	RECRUITING	A Phase 2 Study of Radiotherapy-induced Immune Priming to Enhance Elranatamab (Elra) in Relapsed Refractory Multiple Myeloma (RRMM) With Extramedullary Disease (EMD) and Paramedullary Disease (PMD) PRIME-EMD-PMD
NCT01005004	PHASE1	COMPLETED	Study of Human Central Nervous System (CNS) Stem Cells Transplantation in Pelizaeus-Merzbacher Disease (PMD) Subjects
NCT02254863	PHASE1	RECRUITING	UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
NCT06150716	PHASE1	RECRUITING	Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)
NCT01391637	Not specified	COMPLETED	Long-Term Follow-Up Study of Human Stem Cells Transplanted in Subjects With Connatal Pelizaeus-Merzbacher Disease (PMD)
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT05659901	Not specified	RECRUITING	Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease