ACSM2A

Summary

ACSM2A (acyl-CoA synthetase medium chain family member 2A, HGNC:32017) is a protein-coding gene on chromosome 16p12.3, encoding Acyl-coenzyme A synthetase ACSM2A, mitochondrial (Q08AH3). Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism.

This gene encodes a mitochondrial acyl-coenzyme A synthetase that is specific for medium chain fatty acids. These enzymes catalyze fatty acid activation, the first step of fatty acid metabolism, through the transfer of acyl-CoA. These enzymes also participate in the glycine conjugation pathway in the detoxification of xenobiotics such as benzoate and ibuprofen. Expression levels of this gene in the kidney may be correlated with kidney function. This gene and its paralog ACSM2B (Gene ID: 348158), both present on chromosome 16, likely arose from a chromosomal duplication event.

Source: NCBI Gene 123876 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 129 total — 1 pathogenic
• MANE Select transcript: NM_001308172

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32017
Approved symbol	ACSM2A
Name	acyl-CoA synthetase medium chain family member 2A
Location	16p12.3
Locus type	gene with protein product
Status	Approved
Aliases	A-923A4.1, MGC150530
Ensembl gene	ENSG00000183747
Ensembl biotype	protein_coding
OMIM	614358
Entrez	123876

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 26 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000219054, ENST00000396104, ENST00000417235, ENST00000570698, ENST00000571204, ENST00000571894, ENST00000572843, ENST00000572921, ENST00000573854, ENST00000574251, ENST00000574692, ENST00000575558, ENST00000575690, ENST00000576101, ENST00000576119, ENST00000576361, ENST00000910835, ENST00000910836, ENST00000910837, ENST00000910838, ENST00000910839, ENST00000910840, ENST00000910841, ENST00000910842, ENST00000910843, ENST00000910844, ENST00000910845, ENST00000910846, ENST00000910847, ENST00000910848, ENST00000910849, ENST00000910850, ENST00000910851, ENST00000910852

RefSeq mRNA: 3 — MANE Select: NM_001308172 NM_001308169, NM_001308172, NM_001308954

CCDS: CCDS32401, CCDS76838

Canonical transcript exons

ENST00000573854 — 14 exons

Exon	Start	End
ENSE00003465674	20475362	20475441
ENSE00003468285	20480573	20480700
ENSE00003471890	20469512	20469719
ENSE00003491554	20480822	20480921
ENSE00003492429	20477369	20477449
ENSE00003508579	20465517	20465727
ENSE00003547786	20475650	20475773
ENSE00003556733	20483058	20483177
ENSE00003570546	20471536	20471689
ENSE00003606136	20478576	20478677
ENSE00003608514	20471073	20471216
ENSE00003655320	20460107	20460291
ENSE00003843264	20451521	20451681
ENSE00003843286	20486574	20487669

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 99.12.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3723 / max 149.7032, expressed in 16 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
207801	0.1268	14
153058	0.0894	11
207802	0.0715	14
153061	0.0695	12
153059	0.0118	6
153060	0.0033	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.12	gold quality
liver	UBERON:0002107	98.64	gold quality
adult mammalian kidney	UBERON:0000082	97.15	gold quality
kidney	UBERON:0002113	92.93	gold quality
cortex of kidney	UBERON:0001225	83.52	gold quality
metanephros cortex	UBERON:0010533	83.29	gold quality
metanephric glomerulus	UBERON:0004736	76.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.85	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	68.91	gold quality
sural nerve	UBERON:0015488	64.26	silver quality
vastus lateralis	UBERON:0001379	60.14	gold quality
quadriceps femoris	UBERON:0001377	60.02	gold quality
trachea	UBERON:0003126	59.07	gold quality
dorsal plus ventral thalamus	UBERON:0001897	59.03	gold quality
dorsal root ganglion	UBERON:0000044	58.67	gold quality
epithelium of bronchus	UBERON:0002031	58.19	gold quality
layer of synovial tissue	UBERON:0007616	57.91	gold quality
cerebellar vermis	UBERON:0004720	57.59	gold quality
thymus	UBERON:0002370	57.33	gold quality
mucosa of stomach	UBERON:0001199	55.45	gold quality
superior frontal gyrus	UBERON:0002661	52.69	gold quality
calcaneal tendon	UBERON:0003701	52.60	gold quality
hindlimb stylopod muscle	UBERON:0004252	51.69	gold quality
primary visual cortex	UBERON:0002436	51.23	gold quality
ventricular zone	UBERON:0003053	51.18	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
prefrontal cortex	UBERON:0000451	50.34	gold quality
apex of heart	UBERON:0002098	50.34	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	5924.06
E-CURD-135	yes	5751.37
E-CURD-119	yes	5697.89
E-HCAD-10	yes	32.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting ACSM2A, 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-6833-3P	100.00	70.63	3197
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-6753-3P	99.93	66.57	637
HSA-MIR-7107-3P	99.93	66.73	627
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728

Literature-anchored findings (GeneRIF, showing 2)

• Results report the first crystal structure of a medium-chain acyl-CoA synthetase ACSM2A, in a series of substrate/product/cofactor complexes central to the catalytic mechanism. (PMID:19345228)
• This study assessed the naturally observed sequence diversity and protein expression variation of ACSM2A and ACSM2B. The allelic variation, haplotype diversity, Tajima’s D values, and phylogenetic analyses indicated that ACSM2A and ACSM2B are highly conserved.The protein expression analyses showed that ACSM2A is the predominant transcript in liver. (PMID:29948332)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	acss2l	ENSDARG00000069029
mus_musculus	Acsm2	ENSMUSG00000030945
rattus_norvegicus	Acsm2	ENSRNOG00000064951
caenorhabditis_elegans		WBGENE00009221
caenorhabditis_elegans		WBGENE00018488

Paralogs (13): ACSM3 (ENSG00000005187), ACSM2B (ENSG00000066813), AACS (ENSG00000081760), ACSS3 (ENSG00000111058), ACSS2 (ENSG00000131069), ACSS1 (ENSG00000154930), AASDH (ENSG00000157426), ACSM1 (ENSG00000166743), ACSF2 (ENSG00000167107), ACSM6 (ENSG00000173124), ACSF3 (ENSG00000176715), ACSM5 (ENSG00000183549), ACSM4 (ENSG00000215009)

Protein

Protein identifiers

Acyl-coenzyme A synthetase ACSM2A, mitochondrial — Q08AH3 (reviewed: Q08AH3)

Alternative names: Acyl-CoA synthetase medium-chain family member 2A, Benzoate–CoA ligase, Butyrate–CoA ligase 2A, Butyryl-coenzyme A synthetase 2A, Middle-chain acyl-CoA synthetase 2A

All UniProt accessions (6): E7EPS5, Q08AH3, F5GWL3, I3L2Y5, I3L339, I3L438

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism. Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate-containing xenobiotics, e.g. benzoate.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.

RefSeq proteins (3): NP_001295098, NP_001295101, NP_001295883 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000873	AMP-dep_synth/lig_dom	Domain
IPR020845	AMP-binding_CS	Conserved_site
IPR025110	AMP-bd_C	Domain
IPR042099	ANL_N_sf	Homologous_superfamily
IPR045851	AMP-b_sf	Homologous_superfamily
IPR051087	Mitochondrial_ACSM	Family

Pfam: PF00501, PF13193

Catalyzed reactions (Rhea), 6 shown:

• benzoate + ATP + CoA = benzoyl-CoA + AMP + diphosphate (RHEA:10132)
• decanoate + ATP + CoA = decanoyl-CoA + AMP + diphosphate (RHEA:33627)
• octanoate + ATP + CoA = octanoyl-CoA + AMP + diphosphate (RHEA:33631)
• hexanoate + ATP + CoA = hexanoyl-CoA + AMP + diphosphate (RHEA:43740)
• butanoate + ATP + CoA = butanoyl-CoA + AMP + diphosphate (RHEA:46172)
• a medium-chain fatty acid + ATP + CoA = a medium-chain fatty acyl-CoA + AMP + diphosphate (RHEA:48340)

UniProt features (75 total): strand 27, helix 21, binding site 12, turn 7, sequence variant 4, transit peptide 1, chain 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
3C5E	X-RAY DIFFRACTION	1.6
3GPC	X-RAY DIFFRACTION	1.9
3DAY	X-RAY DIFFRACTION	1.95
3B7W	X-RAY DIFFRACTION	2
3EQ6	X-RAY DIFFRACTION	2.4
2VZE	X-RAY DIFFRACTION	2.45
2WD9	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q08AH3-F1	91.42	0.83

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 (12): 501; 532; 540–542; 557; 139; 221–229; 359–364; 364; 446; 461; 469–471; 472

Post-translational modifications (1): 513

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-177128	Conjugation of salicylate with glycine
R-HSA-9749641	Aspirin ADME
R-HSA-1430728	Metabolism
R-HSA-156580	Phase II - Conjugation of compounds
R-HSA-156587	Amino Acid conjugation
R-HSA-159424	Conjugation of carboxylic acids
R-HSA-211859	Biological oxidations
R-HSA-9748784	Drug ADME

MSigDB gene sets: 109 (showing top): GOBP_ACYLGLYCEROL_HOMEOSTASIS, REACTOME_BIOLOGICAL_OXIDATIONS, GNF2_HPN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_LIPID_HOMEOSTASIS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, KIM_GERMINAL_CENTER_T_HELPER_DN, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (7): fatty acid biosynthetic process (GO:0006633), acyl-CoA metabolic process (GO:0006637), medium-chain fatty-acyl-CoA metabolic process (GO:0036112), glucose homeostasis (GO:0042593), triglyceride homeostasis (GO:0070328), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (12): fatty-acyl-CoA synthase activity (GO:0004321), ATP binding (GO:0005524), fatty acid ligase activity (GO:0015645), benzoate-CoA ligase activity (GO:0018858), medium-chain fatty acid-CoA ligase activity (GO:0031956), metal ion binding (GO:0046872), decanoate-CoA ligase activity (GO:0102391), nucleotide binding (GO:0000166), CoA-ligase activity (GO:0016405), ligase activity (GO:0016874), ligase activity, forming carbon-sulfur bonds (GO:0016877), acid-thiol ligase activity (GO:0016878)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Conjugation of carboxylic acids	1
Drug ADME	1
Biological oxidations	1
Phase II - Conjugation of compounds	1
Amino Acid conjugation	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acid-thiol ligase activity	2
fatty acid metabolic process	1
lipid biosynthetic process	1
monocarboxylic acid biosynthetic process	1
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
fatty-acyl-CoA metabolic process	1
carbohydrate homeostasis	1
acylglycerol homeostasis	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
ATP-dependent activity	1
CoA-ligase activity	1
fatty acid-CoA ligase activity	1
cation binding	1
medium-chain fatty acid-CoA ligase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1
ligase activity	1
ligase activity, forming carbon-sulfur bonds	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1650 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACSM2A	GLYAT	Q6IB77	572
ACSM2A	AASDH	Q4L235	540
ACSM2A	FAM47E	Q6ZV65	443
ACSM2A	IVD	P26440	353
ACSM2A	SUOX	P51687	342
ACSM2A	HACL1	Q9UJ83	336
ACSM2A	ACSBG2	Q5FVE4	334
ACSM2A	ACCS	Q96QU6	312
ACSM2A	ACSBG1	Q96GR2	297
ACSM2A	ACOT12	Q8WYK0	288
ACSM2A	CRAT	P43155	288
ACSM2A	CFAP144	A6NL82	288
ACSM2A	ALDH8A1	Q9H2A2	282
ACSM2A	ACOT4	Q8N9L9	281
ACSM2A	ACADS	P16219	279

IntAct

4 interactions, top by confidence:

A	B	Type	Score
ACSM2A		psi-mi:“MI:0915”(physical association)	0.370
	AP3B1	psi-mi:“MI:0914”(association)	0.350
ACSM2B	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): ACSM2A (Affinity Capture-MS), ACSM2A (Affinity Capture-MS), ACSM3 (Negative Genetic)

ESM2 similar proteins: A4IHY0, H9A1V3, M4IRL9, O70490, P0C7M7, P39062, Q08AH1, Q08AH3, Q0P4F7, Q17QJ1, Q3TMV7, Q3UNX5, Q3URE1, Q499N5, Q4G176, Q4R3Y4, Q4R4Z9, Q4R510, Q53FZ2, Q58DN7, Q5E9H9, Q5EA45, Q5I0K5, Q5R9G9, Q5RDY4, Q5REV5, Q5REX5, Q67Y55, Q68CK6, Q6AYT9, Q6GLK6, Q6P1M0, Q6P461, Q6PE15, Q6SKG1, Q7T0X7, Q7TN78, Q80W40, Q84P17, Q8K0L3

Diamond homologs: A0A0H2ZF83, A0A0H2ZGB9, A8NF97, A9W5V0, B7KPN8, G3J456, M4IQQ5, M4ISH2, O07899, O53521, O60011, P0C7M7, P10378, P38135, P39002, P40871, P71716, P80436, P86831, P86832, P9WEY3, P9WEZ0, Q01574, Q08AH1, Q08AH3, Q1IAK8, Q21LV0, Q2G512, Q2KHW5, Q53FZ2, Q5P603, Q5REV5, Q5SKN9, Q5ZKR7, Q68CK6, Q6SKG1, Q6ZAC1, Q7TYX8, Q7X279, Q84HC5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	109
Likely benign	9
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
375693	maternal UPD(16p)	Pathogenic

SpliceAI

2221 predictions. Top by Δscore:

Variant	Effect	Δscore
16:20460229:G:GT	donor_gain	1.0000
16:20469715:CTAAA:C	donor_gain	1.0000
16:20469718:AA:A	donor_gain	1.0000
16:20469720:G:GG	donor_gain	1.0000
16:20471070:CA:C	acceptor_loss	1.0000
16:20471071:A:AG	acceptor_gain	1.0000
16:20471071:A:AT	acceptor_loss	1.0000
16:20471072:G:GG	acceptor_gain	1.0000
16:20471072:GT:G	acceptor_gain	1.0000
16:20471072:GTGA:G	acceptor_gain	1.0000
16:20471215:GG:G	donor_gain	1.0000
16:20471216:GG:G	donor_gain	1.0000
16:20475648:A:AG	acceptor_gain	1.0000
16:20475649:G:GG	acceptor_gain	1.0000
16:20477445:TACAG:T	donor_loss	1.0000
16:20477446:ACAG:A	donor_loss	1.0000
16:20477448:AG:A	donor_loss	1.0000
16:20477450:G:GG	donor_loss	1.0000
16:20477451:T:G	donor_loss	1.0000
16:20477476:G:GT	donor_gain	1.0000
16:20478650:GCCTA:G	donor_gain	1.0000
16:20480563:T:TA	acceptor_gain	1.0000
16:20480569:CCA:C	acceptor_loss	1.0000
16:20480570:CA:C	acceptor_loss	1.0000
16:20480571:A:AG	acceptor_gain	1.0000
16:20480571:A:AT	acceptor_loss	1.0000
16:20480572:G:GG	acceptor_gain	1.0000
16:20480572:GGAC:G	acceptor_gain	1.0000
16:20480572:GGACA:G	acceptor_gain	1.0000
16:20480649:A:G	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000014458 (16:20459963 T>A), RS1000169865 (16:20485614 TAAAA>T), RS1000328189 (16:20457357 A>T), RS1000378752 (16:20462515 C>T), RS1000394282 (16:20457616 C>A,G), RS1000428333 (16:20478150 G>A,C,T), RS1000533926 (16:20465423 A>G), RS1000601987 (16:20461229 A>G,T), RS1000688565 (16:20462273 G>A), RS1000748491 (16:20456126 A>G), RS1000770370 (16:20486485 G>C), RS1001056616 (16:20469501 G>T), RS1001140229 (16:20461524 A>G,T), RS1001237318 (16:20463160 A>C,T), RS1001320423 (16:20469331 G>A)

Disease associations

OMIM: gene MIM:614358 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): hemimegalencephaly (MONDO:0020492)

Orphanet (1): Hemimegalencephaly (Orphanet:99802)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST009733_26	Urinary metabolite levels in chronic kidney disease	1.000000e-30
GCST012020_174	Serum metabolite levels	4.000000e-24
GCST012020_200	Serum metabolite levels	2.000000e-17
GCST012020_464	Serum metabolite levels	5.000000e-13
GCST012021_55	Serum metabolite levels	4.000000e-24
GCST012021_75	Serum metabolite levels	2.000000e-17

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005116	urinary metabolite measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065705	Hemimegalencephaly	C05.660.207.536.500; C10.500.507.400.249.500; C16.131.621.207.532.500; C16.131.666.507.400.249.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects cotreatment, decreases expression	3
Benzo(a)pyrene	decreases expression	3
Resveratrol	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases expression	2
dicrotophos	decreases expression	1
methyleugenol	decreases expression	1
bisphenol A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
Chenodeoxycholic Acid	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Deoxycholic Acid	affects cotreatment, decreases expression	1
Glycochenodeoxycholic Acid	decreases expression, affects cotreatment	1
Glycocholic Acid	affects cotreatment, decreases expression	1
Glycodeoxycholic Acid	affects cotreatment, decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Silicon Dioxide	decreases expression	1
Tartrazine	affects cotreatment, decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression, increases methylation	1
Cyclosporine	decreases methylation	1
Palmitic Acid	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07287202	PHASE1/PHASE2	NOT_YET_RECRUITING	Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)
NCT04344626	Not specified	WITHDRAWN	Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery