OSBPL9

Summary

OSBPL9 (oxysterol binding protein like 9, HGNC:16386) is a protein-coding gene on chromosome 1p32.3, encoding Oxysterol-binding protein-related protein 9 (Q96SU4). Interacts with OSBPL11 to function as lipid transfer proteins.

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12.

Source: NCBI Gene 114883 — RefSeq curated summary.

At a glance

• Gene–disease (curated): multiple congenital anomalies/dysmorphic syndrome (Limited, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_024586

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16386
Approved symbol	OSBPL9
Name	oxysterol binding protein like 9
Location	1p32.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000117859
Ensembl biotype	protein_coding
OMIM	606737
Entrez	114883

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 18 protein_coding, 8 nonsense_mediated_decay, 4 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000361556, ENST00000371714, ENST00000428468, ENST00000435274, ENST00000447887, ENST00000453295, ENST00000462759, ENST00000467064, ENST00000473207, ENST00000475697, ENST00000481937, ENST00000484890, ENST00000486942, ENST00000489990, ENST00000495776, ENST00000524620, ENST00000526917, ENST00000527631, ENST00000528603, ENST00000531061, ENST00000531819, ENST00000531828, ENST00000532975, ENST00000533825, ENST00000533884, ENST00000534040, ENST00000625138, ENST00000888374, ENST00000888375, ENST00000888376, ENST00000888377, ENST00000930350, ENST00000955446

RefSeq mRNA: 15 — MANE Select: NM_024586 NM_001330580, NM_001350208, NM_001350209, NM_001350210, NM_001416292, NM_001416293, NM_001416294, NM_001416295, NM_024586, NM_148904, NM_148905, NM_148906, NM_148907, NM_148908, NM_148909

CCDS: CCDS41332, CCDS41333, CCDS41334, CCDS44145, CCDS55598, CCDS558, CCDS81322

Canonical transcript exons

ENST00000428468 — 24 exons

Exon	Start	End
ENSE00001793260	51669434	51669512
ENSE00003481185	51786526	51786617
ENSE00003486384	51714003	51714079
ENSE00003490451	51781164	51781335
ENSE00003501767	51748369	51748398
ENSE00003503943	51750145	51750195
ENSE00003524039	51784442	51784582
ENSE00003534523	51651991	51652041
ENSE00003539928	51765822	51765981
ENSE00003580506	51776833	51776918
ENSE00003587523	51785808	51785886
ENSE00003587815	51760690	51760780
ENSE00003601788	51745536	51745631
ENSE00003604282	51746710	51746757
ENSE00003616646	51783915	51784025
ENSE00003624804	51756320	51756358
ENSE00003626858	51617092	51617221
ENSE00003629614	51761867	51761971
ENSE00003639693	51772605	51772723
ENSE00003640826	51782559	51782643
ENSE00003644934	51772070	51772182
ENSE00003661711	51787353	51787488
ENSE00003694166	51784264	51784327
ENSE00003846040	51787715	51789219

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.1024 / max 461.7969, expressed in 1826 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2849	38.9983	1814
2854	16.6547	1695
2855	1.4493	761

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.13	gold quality
right lung	UBERON:0002167	97.60	gold quality
popliteal artery	UBERON:0002250	97.54	gold quality
tibial artery	UBERON:0007610	97.54	gold quality
sural nerve	UBERON:0015488	97.36	gold quality
adrenal tissue	UBERON:0018303	97.36	gold quality
choroid plexus epithelium	UBERON:0003911	97.18	gold quality
renal medulla	UBERON:0000362	97.16	gold quality
blood vessel layer	UBERON:0004797	97.04	gold quality
tibial nerve	UBERON:0001323	97.01	gold quality
pigmented layer of retina	UBERON:0001782	96.86	gold quality
aorta	UBERON:0000947	96.79	gold quality
mucosa of stomach	UBERON:0001199	96.69	gold quality
right coronary artery	UBERON:0001625	96.69	gold quality
left ovary	UBERON:0002119	96.60	gold quality
germinal epithelium of ovary	UBERON:0001304	96.58	gold quality
palpebral conjunctiva	UBERON:0001812	96.55	gold quality
gastrocnemius	UBERON:0001388	96.48	gold quality
urethra	UBERON:0000057	96.34	gold quality
metanephros	UBERON:0000081	96.32	gold quality
colonic epithelium	UBERON:0000397	96.32	gold quality
right ovary	UBERON:0002118	96.30	gold quality
descending thoracic aorta	UBERON:0002345	96.26	gold quality
body of uterus	UBERON:0009853	96.25	gold quality
muscle of leg	UBERON:0001383	96.24	gold quality
corpus callosum	UBERON:0002336	96.24	gold quality
left coronary artery	UBERON:0001626	96.16	gold quality
right adrenal gland cortex	UBERON:0035827	96.11	gold quality
body of pancreas	UBERON:0001150	96.09	gold quality
epithelium of nasopharynx	UBERON:0001951	96.07	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	398.79
E-ANND-3	yes	11.64
E-MTAB-9388	yes	6.96
E-MTAB-7303	no	116.61

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 6)

• Furthermore, mammalian target of rapamycin was implicated in ORP9L phosphorylation in HEK293 cells. These studies identify ORP9 as a PDK-2 substrate and negative regulator of Akt phosphorylation at the PDK-2 site. (PMID:16962287)
• MicroRNA-125a-5p may partly provide post-transcriptional regulation of the proinflammatory response, lipid uptake, and expression of ORP9 in oxLDL-stimulated monocyte/macrophages. (PMID:19377067)
• Includes data showing N-alpha terminal acetylation of this protein (OSBL9_HUMAN), which begins with nASIMEGPLSK following cleavage of the initiating Met-1 residue. (PMID:19413330)
• The results identify ORP11 as an OSBP homologue distributing at the Golgi-LE interface and define the ORP9-ORP11 dimer as a functional unit that may act as an intracellular lipid sensor or transporter. (PMID:20599956)
• T allele of rs768529 may be a risk factor for the formation of the carotid vulnerable plaque in Chinese Hunan Han population (PMID:24190612)
• These studies identify ORP9 as a dual sterol/PI-4P binding protein that could regulate PI-4P in the Golgi apparatus. (PMID:25255026)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	osbpl9	ENSDARG00000069298
mus_musculus	Osbpl9	ENSMUSG00000028559
rattus_norvegicus	Osbpl9	ENSRNOG00000033593
drosophila_melanogaster	CG1513	FBGN0033463
drosophila_melanogaster	CG9205	FBGN0035181
caenorhabditis_elegans	obr-4	WBGENE00016331

Paralogs (11): OSBPL7 (ENSG00000006025), OSBPL5 (ENSG00000021762), OSBPL3 (ENSG00000070882), OSBPL6 (ENSG00000079156), OSBPL8 (ENSG00000091039), OSBP (ENSG00000110048), OSBPL2 (ENSG00000130703), OSBPL1A (ENSG00000141447), OSBPL10 (ENSG00000144645), OSBPL11 (ENSG00000144909), OSBP2 (ENSG00000184792)

Protein

Protein identifiers

Oxysterol-binding protein-related protein 9 — Q96SU4 (reviewed: Q96SU4)

All UniProt accessions (12): Q96SU4, A0A096LPC8, E9PJ80, E9PK98, E9PKX6, E9PLH0, E9PNR1, G8JLK0, H0YCW0, H0YDB5, H0YE19, H0YE93

UniProt curated annotations — full annotation on UniProt →

Function. Interacts with OSBPL11 to function as lipid transfer proteins. Together they form a heterodimer that localizes at the ER-trans-Golgi membrane contact sites, and exchanges phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) for phosphatidylinositol-4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PI(4)P) between the two organelles, a step that is critical for sphingomyelin synthesis in the Golgi complex.

Subunit / interactions. Heterodimer with OSBPL11. Interacts with OSBPL10.

Subcellular location. Late endosome membrane. Golgi apparatus. trans-Golgi network membrane.

Tissue specificity. Widely expressed.

Similarity. Belongs to the OSBP family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q96SU4-1	1	yes
Q96SU4-2	2
Q96SU4-3	3
Q96SU4-4	4
Q96SU4-5	5
Q96SU4-6	6
Q96SU4-7	7

RefSeq proteins (15): NP_001317509, NP_001337137, NP_001337138, NP_001337139, NP_001403221, NP_001403222, NP_001403223, NP_001403224, NP_078862, NP_683702, NP_683703, NP_683704, NP_683705, NP_683706, NP_683707 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000648	Oxysterol-bd	Family
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR018494	Oxysterol-bd_CS	Conserved_site
IPR037239	OSBP_sf	Homologous_superfamily

Pfam: PF00169, PF01237

Catalyzed reactions (Rhea), 1 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)(out) + a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)(in) + a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) (RHEA:81667)

UniProt features (23 total): modified residue 7, splice variant 6, compositionally biased region 3, sequence conflict 2, initiator methionine 1, chain 1, domain 1, sequence variant 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96SU4-F1	77.10	0.46

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 (7): 325, 326, 329, 611, 2, 306, 324

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-192105	Synthesis of bile acids and bile salts

MSigDB gene sets: 216 (showing top): ATF_B, RRAGTTGT_UNKNOWN, DORSAM_HOXA9_TARGETS_UP, GOBP_VACUOLE_ORGANIZATION, MODULE_255, GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DITTMER_PTHLH_TARGETS_UP, MODULE_317, CREBP1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, SP1_Q2_01, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT

GO Biological Process (4): bile acid biosynthetic process (GO:0006699), intermembrane lipid transfer (GO:0120009), lipid transport (GO:0006869), sterol transport (GO:0015918)

GO Molecular Function (4): sterol binding (GO:0032934), sterol transfer activity (GO:0120015), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (7): Golgi apparatus (GO:0005794), cytosol (GO:0005829), membrane (GO:0016020), late endosome membrane (GO:0031902), protein-containing complex (GO:0032991), transporter complex (GO:1990351), endosome (GO:0005768)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Bile acid and bile salt metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid transport	2
binding	2
cytoplasm	2
endomembrane system	2
cellular anatomical structure	2
bile acid metabolic process	1
monocarboxylic acid biosynthetic process	1
membrane organization	1
transport	1
lipid localization	1
organic hydroxy compound transport	1
steroid binding	1
sterol transport	1
sterol binding	1
lipid transfer activity	1
intracellular membrane-bounded organelle	1
late endosome	1
endosome membrane	1
cellular_component	1
protein-containing complex	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSBPL9	VAPA	Q9P0L0	913
OSBPL9	VAPB	O95292	830
OSBPL9	OSBP2	Q969R2	671
OSBPL9	OSBP	P22059	612
OSBPL9	OSBPL3	Q9H4L5	599
OSBPL9	PLEK2	Q9NYT0	543
OSBPL9	OSBPL5	Q9H0X9	516
OSBPL9	PLEK	P08567	511
OSBPL9	OSBPL7	Q9BZF2	496
OSBPL9	PTDSS1	P48651	460
OSBPL9	CFAP77	Q6ZQR2	446
OSBPL9	IFRD2	Q12894	446
OSBPL9	GFM2	Q969S9	432
OSBPL9	TTC39A	Q5SRH9	423
OSBPL9	HADH	Q16836	421

IntAct

71 interactions, top by confidence:

A	B	Type	Score
OSBPL9	VAPB	psi-mi:“MI:0914”(association)	0.790
OSBPL9	OSBPL11	psi-mi:“MI:0915”(physical association)	0.780
OSBPL11	OSBPL9	psi-mi:“MI:0915”(physical association)	0.780
OSBPL11	VAPB	psi-mi:“MI:0914”(association)	0.730
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
VAPB	PITPNM1	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VAPA	FAM83G	psi-mi:“MI:0914”(association)	0.640
VAPA	PITPNM1	psi-mi:“MI:0914”(association)	0.640
OSBPL10	OSBPL9	psi-mi:“MI:0915”(physical association)	0.630
CFAP36	SNTB2	psi-mi:“MI:0914”(association)	0.620
RAB11A	CHML	psi-mi:“MI:2364”(proximity)	0.610
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
CYP1A1	SNX3	psi-mi:“MI:0914”(association)	0.530
DNAJA1	DNAJA2	psi-mi:“MI:0914”(association)	0.530
ACOT8	PML	psi-mi:“MI:0914”(association)	0.530
ALG3	OSBPL9	psi-mi:“MI:0915”(physical association)	0.510

BioGRID (152): OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Two-hybrid), OSBPL9 (Co-fractionation), OSBPL9 (Co-fractionation), OSBPL9 (Affinity Capture-MS), OSBPL9 (Synthetic Lethality), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS), OSBPL9 (Affinity Capture-MS)

ESM2 similar proteins: A2A8Z1, A8Y5H7, D2KC46, D3YXJ0, D3ZY60, E9PUQ8, F1M386, F1MS15, F1MSG6, F1PBJ0, O35889, O80866, O94512, O94830, P16258, P22059, P36583, P55196, Q0IJ05, Q15057, Q3B7Z2, Q3UYK3, Q5FVC7, Q5QNQ6, Q5R9W4, Q64398, Q6IVG4, Q6ZQK5, Q6ZT07, Q80W71, Q80Y98, Q86XP1, Q8BXR9, Q8CHG7, Q8CI95, Q8K4M9, Q8L751, Q91XL9, Q92503, Q93Y40

Diamond homologs: A0A2Z4HQ03, A2A8Z1, A8IAD8, O43021, O74178, P0C199, P35843, P35844, P54549, Q02201, Q0IJ05, Q5R9W4, Q96SU4, Q9H4L5, Q9UUA1, Q9UW21, Q9UW25, B9EJ86, O80866, P38755, Q54NM4, Q5M7Y0, Q5R6M6, Q6NRZ4, Q6P3Q6, Q6VVX2, Q86KG4, Q8BX94, Q8CI95, Q9BXB4, Q9BXB5, Q9BZF1, Q9EQG9, Q9ER64, Q9GKI7, Q9H0X9, Q9H1P3, Q9Y5P4, S4R1M9, O94512

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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.

GO biological processes:

GO term	Partners	Fold	FDR
endoplasmic reticulum to Golgi vesicle-mediated transport	5	11.5×	6e-03

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	67
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

5497 predictions. Top by Δscore:

Variant	Effect	Δscore
1:51617217:ACACG:A	donor_gain	1.0000
1:51617218:CACG:C	donor_gain	1.0000
1:51617219:ACG:A	donor_gain	1.0000
1:51617220:CG:C	donor_gain	1.0000
1:51617221:GG:G	donor_gain	1.0000
1:51617222:G:GA	donor_loss	1.0000
1:51617222:G:GG	donor_gain	1.0000
1:51651989:A:AG	acceptor_gain	1.0000
1:51651990:G:GA	acceptor_gain	1.0000
1:51652040:GA:G	donor_gain	1.0000
1:51652042:G:GG	donor_gain	1.0000
1:51713996:A:AG	acceptor_gain	1.0000
1:51713997:TTCCA:T	acceptor_loss	1.0000
1:51713998:TCCAG:T	acceptor_loss	1.0000
1:51713999:CCAGC:C	acceptor_loss	1.0000
1:51714000:CAGC:C	acceptor_loss	1.0000
1:51714001:A:AG	acceptor_gain	1.0000
1:51714001:A:C	acceptor_loss	1.0000
1:51714001:AGCCC:A	acceptor_gain	1.0000
1:51714002:G:GT	acceptor_gain	1.0000
1:51714002:GC:G	acceptor_gain	1.0000
1:51714002:GCC:G	acceptor_gain	1.0000
1:51714002:GCCC:G	acceptor_gain	1.0000
1:51714002:GCCCG:G	acceptor_gain	1.0000
1:51714076:TCAAG:T	donor_loss	1.0000
1:51714079:AGTAA:A	donor_loss	1.0000
1:51714080:G:GG	donor_gain	1.0000
1:51714080:G:T	donor_loss	1.0000
1:51714081:TAAGG:T	donor_loss	1.0000
1:51745531:TCTA:T	acceptor_loss	1.0000

AlphaMissense

4895 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:51617129:G:A	G7R	1.000
1:51617129:G:C	G7R	1.000
1:51617129:G:T	G7W	1.000
1:51617130:G:A	G7E	1.000
1:51617136:T:A	L9Q	1.000
1:51617136:T:C	L9P	1.000
1:51617141:A:C	K11Q	1.000
1:51617141:A:G	K11E	1.000
1:51617142:A:T	K11I	1.000
1:51617143:A:C	K11N	1.000
1:51617143:A:T	K11N	1.000
1:51617144:T:A	W12R	1.000
1:51617144:T:C	W12R	1.000
1:51617145:G:C	W12S	1.000
1:51617146:G:C	W12C	1.000
1:51617146:G:T	W12C	1.000
1:51617147:A:G	T13A	1.000
1:51617148:C:T	T13I	1.000
1:51617152:C:A	N14K	1.000
1:51617152:C:G	N14K	1.000
1:51617162:G:A	G18S	1.000
1:51617162:G:C	G18R	1.000
1:51617162:G:T	G18C	1.000
1:51617163:G:A	G18D	1.000
1:51617163:G:T	G18V	1.000
1:51617165:T:A	W19R	1.000
1:51617165:T:C	W19R	1.000
1:51617166:G:C	W19S	1.000
1:51617167:G:C	W19C	1.000
1:51617167:G:T	W19C	1.000

dbSNP variants (sampled 300 via entrez): RS1000024022 (1:51741212 C>T), RS1000029642 (1:51697467 T>A), RS1000056451 (1:51740827 T>C), RS1000099704 (1:51699082 T>G), RS1000102357 (1:51664138 A>G), RS1000111214 (1:51714158 T>A), RS1000137758 (1:51682218 A>G), RS1000151508 (1:51761839 C>A), RS1000153724 (1:51733389 G>A,T), RS1000156306 (1:51788151 G>A,C,T), RS1000171090 (1:51733143 A>G), RS1000176665 (1:51781447 A>G), RS1000191924 (1:51682488 G>A,C), RS1000194889 (1:51768782 C>T), RS1000242800 (1:51788718 G>T)

Disease associations

OMIM: gene MIM:606737 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
multiple congenital anomalies/dysmorphic syndrome	Limited	Autosomal recessive
complex neurodevelopmental disorder	Limited	Autosomal dominant

Mondo (3): infantile epilepsy syndrome (MONDO:0020071), multiple congenital anomalies/dysmorphic syndrome (MONDO:0019042), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (1): OBSOLETE: Infantile epilepsy syndrome (Orphanet:98258)

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	3
bisphenol A	decreases expression, increases expression	2
methacrylaldehyde	affects cotreatment, increases expression, decreases expression, increases abundance	2
Acrolein	increases abundance, affects cotreatment, increases expression, decreases expression	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	2
Ozone	affects cotreatment, increases expression, decreases expression, increases abundance	2
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
alpha phellandrene	increases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
beta-lapachone	decreases expression, increases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
pentabrominated diphenyl ether 100	increases expression	1
bisphenol S	increases expression	1
Ethanol	decreases expression, increases abundance, affects cotreatment	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	affects phosphorylation	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Ivermectin	decreases expression	1
Lead	affects splicing	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Pesticides	affects methylation	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Testosterone	decreases expression	1
Valproic Acid	affects expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder