KANSL3

Summary

KANSL3 (KAT8 regulatory NSL complex subunit 3, HGNC:25473) is a protein-coding gene on chromosome 2q11.2, encoding KAT8 regulatory NSL complex subunit 3 (Q9P2N6). Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at ‘Lys-5’- and ‘Lys-8’ (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation. It is a common-essential gene (DepMap: required in 97.6% of cancer cell lines).

Involved in regulation of mitochondrial transcription. Located in mitochondrion and nucleoplasm. Part of NSL complex.

Source: NCBI Gene 55683 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 125 total
• Cancer dependency (DepMap): dependent in 97.6% of screened cell lines (common-essential)
• MANE Select transcript: NM_001115016

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25473
Approved symbol	KANSL3
Name	KAT8 regulatory NSL complex subunit 3
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10081, Rcd1, NSL3
Ensembl gene	ENSG00000114982
Ensembl biotype	protein_coding
OMIM	617742
Entrez	55683

Gene structure

Transcript identifiers

Ensembl transcripts: 37 — 19 protein_coding, 11 nonsense_mediated_decay, 4 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000354204, ENST00000416138, ENST00000418735, ENST00000420155, ENST00000425656, ENST00000431828, ENST00000444759, ENST00000447759, ENST00000448075, ENST00000451819, ENST00000452268, ENST00000464738, ENST00000475820, ENST00000476534, ENST00000478492, ENST00000484020, ENST00000487070, ENST00000488907, ENST00000597150, ENST00000666923, ENST00000670907, ENST00000883008, ENST00000883009, ENST00000883010, ENST00000883011, ENST00000883012, ENST00000883013, ENST00000883014, ENST00000883015, ENST00000948570, ENST00000948571, ENST00000948572, ENST00000948573, ENST00000948574, ENST00000948575, ENST00000948576, ENST00000948577

RefSeq mRNA: 8 — MANE Select: NM_001115016 NM_001115016, NM_001349256, NM_001349257, NM_001349258, NM_001349259, NM_001349260, NM_001349261, NM_001349262

CCDS: CCDS46361, CCDS92814

Canonical transcript exons

ENST00000431828 — 21 exons

Exon	Start	End
ENSE00001800555	96638283	96638312
ENSE00003458715	96608864	96609064
ENSE00003467768	96604779	96604863
ENSE00003476328	96612818	96612934
ENSE00003484070	96593172	96595631
ENSE00003485739	96604250	96604380
ENSE00003502042	96636921	96637185
ENSE00003511826	96619359	96619544
ENSE00003518787	96619672	96619762
ENSE00003518819	96610726	96610883
ENSE00003525863	96612462	96612563
ENSE00003536735	96601643	96601776
ENSE00003557414	96602116	96602338
ENSE00003612804	96612282	96612353
ENSE00003621178	96608508	96608664
ENSE00003623106	96613488	96613619
ENSE00003653837	96602753	96602862
ENSE00003654591	96605320	96605511
ENSE00003660349	96609499	96609562
ENSE00003683182	96631312	96631482
ENSE00003684667	96611064	96611138

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 97.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1271 / max 715.9008, expressed in 1813 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29761	12.6653	1804
29762	1.4208	984
29760	0.6969	329
29753	0.6455	31
29763	0.5098	259
29759	0.1341	48
29752	0.0360	6
29755	0.0147	6
29754	0.0040	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.58	gold quality
tibia	UBERON:0000979	95.96	gold quality
renal medulla	UBERON:0000362	95.45	gold quality
cardia of stomach	UBERON:0001162	95.31	gold quality
urethra	UBERON:0000057	95.21	gold quality
parietal pleura	UBERON:0002400	94.85	gold quality
tendon of biceps brachii	UBERON:0008188	94.68	gold quality
visceral pleura	UBERON:0002401	94.56	gold quality
pylorus	UBERON:0001166	94.38	gold quality
middle temporal gyrus	UBERON:0002771	94.38	gold quality
male germ cell	CL:0000015	94.33	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.29	gold quality
trigeminal ganglion	UBERON:0001675	94.22	gold quality
saphenous vein	UBERON:0007318	94.02	gold quality
body of tongue	UBERON:0011876	93.91	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.84	gold quality
germinal epithelium of ovary	UBERON:0001304	93.75	gold quality
pericardium	UBERON:0002407	93.69	gold quality
biceps brachii	UBERON:0001507	93.55	gold quality
seminal vesicle	UBERON:0000998	93.48	gold quality
dorsal root ganglion	UBERON:0000044	93.37	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.32	gold quality
cerebellar vermis	UBERON:0004720	92.98	gold quality
mammary duct	UBERON:0001765	92.96	gold quality
pleura	UBERON:0000977	92.89	gold quality
gastrocnemius	UBERON:0001388	92.83	gold quality
trachea	UBERON:0003126	92.66	gold quality
trabecular bone tissue	UBERON:0002483	92.65	gold quality
superior surface of tongue	UBERON:0007371	92.63	gold quality
superficial temporal artery	UBERON:0001614	92.60	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.09
E-MTAB-6142	no	144.45

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 97.6% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• microtubule minus-end-binding protein, essential for spindle assembly and chromosome segregation (PMID:26243146)
• Data suggest that O-GlcNAc transferase 1 (OGT1) specifically binds to, O-GlcNAcylates, and stabilizes nonspecific lethal protein3 (NSL3); stabilization of NSL3 by OGT1 up-regulates global acetylation levels of histone 4 at Lys-5, Lys-8, and Lys-16. (PMID:28450392)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	kansl3	ENSDARG00000029556
mus_musculus	Kansl3	ENSMUSG00000010453
rattus_norvegicus	Kansl3	ENSRNOG00000015417
drosophila_melanogaster	Rcd1	FBGN0033897
caenorhabditis_elegans		WBGENE00018812

Paralogs (1): TEX30 (ENSG00000151287)

Protein

Protein identifiers

KAT8 regulatory NSL complex subunit 3 — Q9P2N6 (reviewed: Q9P2N6)

Alternative names: NSL complex protein NSL3, Non-specific lethal 3 homolog, Serum inhibited-related protein, Testis development protein PRTD

All UniProt accessions (10): A0A075B6P7, A0A590UJ53, C9J491, C9J5A4, C9JF16, Q9P2N6, F8WB58, F8WD76, F8WEN2, M0R3B6

UniProt curated annotations — full annotation on UniProt →

Function. Non-catalytic component of the NSL histone acetyltransferase complex, a multiprotein complex that mediates histone H4 acetylation at ‘Lys-5’- and ‘Lys-8’ (H4K5ac and H4K8ac) at transcription start sites and promotes transcription initiation. The NSL complex also acts as a regulator of gene expression in mitochondria. Within the NSL complex, KANSL3 is required to promote KAT8 association with mitochondrial DNA. Required for transcription of intraciliary transport genes in both ciliated and non-ciliated cells. This is necessary for cilium assembly in ciliated cells and for organization of the microtubule cytoskeleton in non-ciliated cells. Also required within the NSL complex to maintain nuclear architecture stability by promoting KAT8-mediated acetylation of lamin LMNA. Plays an essential role in spindle assembly during mitosis. Acts as a microtubule minus-end binding protein which stabilizes microtubules and promotes their assembly. Indispensable during early embryonic development where it is required for proper lineage specification and maintenance during peri-implantation development and is essential for implantation.

Subunit / interactions. Component of the NSL complex at least composed of KAT8/MOF, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1.

Subcellular location. Nucleus. Mitochondrion. Cytoplasm. Cytoskeleton. Spindle pole.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9P2N6-1	1	yes
Q9P2N6-2	2
Q9P2N6-3	3
Q9P2N6-4	4
Q9P2N6-5	5
Q9P2N6-6	6
Q9P2N6-7	7
Q9P2N6-8	8

RefSeq proteins (8): NP_001108488, NP_001336185, NP_001336186, NP_001336187, NP_001336188, NP_001336189, NP_001336190, NP_001336191 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026555	NSL3/Tex30	Family
IPR029058	AB_hydrolase_fold	Homologous_superfamily
IPR046879	KANL3/Tex30_Abhydrolase	Domain
IPR056519	KANSL3_1st	Domain

Pfam: PF20408, PF23154

UniProt features (30 total): splice variant 10, region of interest 5, compositionally biased region 5, modified residue 4, sequence conflict 4, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2N6-F1	61.25	0.27

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 (4): 523, 536, 540, 773

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization
R-HSA-74160	Gene expression (Transcription)
R-HSA-9917777	Epigenetic regulation by WDR5-containing histone modifying complexes

MSigDB gene sets: 167 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, RNGTGGGC_UNKNOWN, NFKB_C, E2F1DP1_01, E2F1DP2_01, ZIC1_01, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, HAND1E47_01, GOCC_SPINDLE, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, ZIRN_TRETINOIN_RESPONSE_WT1_UP, YGCGYRCGC_UNKNOWN, SCGGAAGY_ELK1_02, E2F_02

GO Biological Process (4): chromatin organization (GO:0006325), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of mitochondrial transcription (GO:1903108)

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

GO Cellular Component (9): histone acetyltransferase complex (GO:0000123), spindle pole (GO:0000922), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), microtubule (GO:0005874), NSL complex (GO:0044545), nucleus (GO:0005634), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Epigenetic regulation by WDR5-containing histone modifying complexes	1
Gene expression (Transcription)	1
Chromatin organization	1
Epigenetic regulation of gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of DNA-templated transcription	2
intracellular membrane-bounded organelle	2
cellular component organization	1
DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
mitochondrial transcription	1
regulation of mitochondrial gene expression	1
binding	1
chromatin	1
protein acetyltransferase complex	1
spindle	1
nuclear lumen	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
H4 histone acetyltransferase complex	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1144 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KANSL3	KANSL2	Q9H9L4	995
KANSL3	MCRS1	Q96EZ8	990
KANSL3	PHF20	Q9BVI0	960
KANSL3	OGT	O15294	912
KANSL3	WDR5	P61964	905
KANSL3	KANSL1	Q7Z3B3	888
KANSL3	KAT8	Q9H7Z6	758
KANSL3	HCFC1	P51610	711
KANSL3	HFM1	A2PYH4	670
KANSL3	SLC2A4RG	Q9NR83	593
KANSL3	CA1	P00915	557
KANSL3	TGM1	P22735	514
KANSL3	MN1	Q10571	512
KANSL3	MUC5B	Q9HC84	476
KANSL3	HSH2D	Q96JZ2	464

IntAct

41 interactions, top by confidence:

A	B	Type	Score
MED10	MED19	psi-mi:“MI:0914”(association)	0.910
MED26	MED19	psi-mi:“MI:0914”(association)	0.730
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
PHF20	KANSL1	psi-mi:“MI:0914”(association)	0.640
PHF20	KANSL3	psi-mi:“MI:0915”(physical association)	0.620
CD44	PDPK1	psi-mi:“MI:0914”(association)	0.530
KANSL3		psi-mi:“MI:0915”(physical association)	0.400
PLEC	KANSL3	psi-mi:“MI:0915”(physical association)	0.400
Kat8	PHF20L1	psi-mi:“MI:0915”(physical association)	0.400
FOXK2	PHF20L1	psi-mi:“MI:0914”(association)	0.350
WDR5	PHF20L1	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
KANSL3	POTEF	psi-mi:“MI:0914”(association)	0.350
CAMK2A	SMCHD1	psi-mi:“MI:0914”(association)	0.350
CAMK2D	SETD1A	psi-mi:“MI:0914”(association)	0.350
ANKMY2	ADCY6	psi-mi:“MI:0914”(association)	0.350
PHF20L1	PRKCA	psi-mi:“MI:0914”(association)	0.350
WDR5	KIF2A	psi-mi:“MI:0914”(association)	0.350
KANSL3	GSPT1	psi-mi:“MI:0914”(association)	0.350
INSR	BLTP3B	psi-mi:“MI:0914”(association)	0.350
OGT	SMCHD1	psi-mi:“MI:0914”(association)	0.350
AR	MED6	psi-mi:“MI:2364”(proximity)	0.270
ELF1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
ELF2	SETD1A	psi-mi:“MI:2364”(proximity)	0.270
ELF4	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
HNF4A	TAF4	psi-mi:“MI:2364”(proximity)	0.270
KLF16	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270
KLF8	USP27X	psi-mi:“MI:2364”(proximity)	0.270
MYB	KMT2D	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (128): KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-RNA), KANSL3 (Affinity Capture-RNA), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS)

ESM2 similar proteins: A0JMF8, A2RSY1, A6QLW9, B1WAV2, B2GV50, O60271, O75069, O77627, P05412, P05627, P0C090, P17325, P22670, P48377, P48378, P48379, P48380, P48381, P56432, Q0V989, Q0V9K5, Q16656, Q32NR3, Q3KR73, Q499B3, Q49GP3, Q4R3I8, Q4R3Z4, Q4V872, Q4VGL6, Q58A65, Q5EAP5, Q5EY87, Q5RDR2, Q5RJA1, Q5TC82, Q62739, Q66IV1, Q6NRE7, Q6NUC6

Diamond homologs: A2RSY1, Q3KR73, Q499B3, Q9P2N6

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
KANSL3	“form complex”	“NSL histone acetyltransferase”	binding
KANSL3	up-regulates	Microtubule_polimerization
KANSL3	up-regulates	Chromosome_segregation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 52 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 WDR5-containing histone-modifying complexes	8	50.6×	2e-09
Respiratory Syncytial Virus Infection Pathway	5	23.4×	2e-04
Epigenetic regulation by WDR5-containing histone modifying complexes	6	22.1×	4e-05
RSV-host interactions	5	18.6×	4e-04
Signaling by WNT	6	16.0×	2e-04
Intracellular signaling by second messengers	7	15.2×	4e-05
MAPK family signaling cascades	5	12.2×	2e-03
PPARA activates gene expression	5	11.2×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of transcription initiation by RNA polymerase II	6	33.3×	4e-06
RNA polymerase II preinitiation complex assembly	5	27.7×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	104
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3797 predictions. Top by Δscore:

Variant	Effect	Δscore
2:96601639:TCA:T	donor_loss	1.0000
2:96601640:CA:C	donor_loss	1.0000
2:96601642:C:CT	donor_loss	1.0000
2:96601772:CAAGC:C	acceptor_gain	1.0000
2:96601774:AGC:A	acceptor_gain	1.0000
2:96601775:GC:G	acceptor_gain	1.0000
2:96601776:CC:C	acceptor_gain	1.0000
2:96601777:C:CC	acceptor_gain	1.0000
2:96601777:C:T	acceptor_gain	1.0000
2:96601782:A:AC	acceptor_gain	1.0000
2:96601782:A:C	acceptor_gain	1.0000
2:96602111:CTCA:C	donor_loss	1.0000
2:96602112:TCA:T	donor_loss	1.0000
2:96602113:CA:C	donor_loss	1.0000
2:96602338:CCTG:C	acceptor_loss	1.0000
2:96602339:C:CA	acceptor_loss	1.0000
2:96602339:C:CC	acceptor_gain	1.0000
2:96604245:GATAC:G	donor_loss	1.0000
2:96604246:ATACC:A	donor_loss	1.0000
2:96604247:TA:T	donor_loss	1.0000
2:96604248:A:C	donor_loss	1.0000
2:96604249:C:CA	donor_loss	1.0000
2:96604379:ACCT:A	acceptor_loss	1.0000
2:96604381:CTGG:C	acceptor_loss	1.0000
2:96604382:T:A	acceptor_loss	1.0000
2:96604777:A:AC	donor_gain	1.0000
2:96604778:C:CC	donor_gain	1.0000
2:96604778:CTTGG:C	donor_gain	1.0000
2:96604867:C:CT	acceptor_gain	1.0000
2:96607043:CTGTG:C	acceptor_gain	1.0000

AlphaMissense

5656 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:96613519:G:T	P255H	1.000
2:96613524:C:A	W253C	1.000
2:96613524:C:G	W253C	1.000
2:96613526:A:G	W253R	1.000
2:96613526:A:T	W253R	1.000
2:96613531:C:A	R251M	1.000
2:96613537:A:G	L249P	1.000
2:96613540:A:G	L248P	1.000
2:96619369:A:G	L218P	1.000
2:96619387:A:G	L212P	1.000
2:96619426:A:G	L199P	1.000
2:96619438:A:G	L195P	1.000
2:96619442:A:G	W194R	1.000
2:96619442:A:T	W194R	1.000
2:96619463:A:G	W187R	1.000
2:96619463:A:T	W187R	1.000
2:96619477:A:G	L182P	1.000
2:96619519:C:G	R168P	1.000
2:96619709:A:G	L147P	1.000
2:96619733:A:G	L139P	1.000
2:96619755:A:G	W132R	1.000
2:96619755:A:T	W132R	1.000
2:96631378:A:T	V107D	1.000
2:96637003:A:G	W45R	1.000
2:96637003:A:T	W45R	1.000
2:96637019:A:C	H39Q	1.000
2:96637019:A:T	H39Q	1.000
2:96609045:A:G	L468P	0.999
2:96609512:T:A	D457V	0.999
2:96609513:C:G	D457H	0.999

dbSNP variants (sampled 300 via entrez): RS1000045868 (2:96614185 G>A), RS1000251445 (2:96586576 T>TA), RS1000252655 (2:96634707 T>A), RS1000254129 (2:96593136 G>T), RS1000287855 (2:96612749 ATTC>A), RS1000376637 (2:96620309 C>T), RS1000417001 (2:96613880 C>T), RS1000450679 (2:96600319 G>A), RS1000498127 (2:96588312 G>C), RS1000566768 (2:96634702 A>C), RS1000657480 (2:96640211 C>A), RS1000709187 (2:96586277 T>C,G), RS1000782296 (2:96593291 C>G), RS1000792080 (2:96593024 C>T), RS1000889656 (2:96614206 T>A)

Disease associations

OMIM: gene MIM:617742 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008103_13	Bipolar disorder	4.000000e-09

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
Cadmium Chloride	decreases expression, increases abundance	2
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression, increases abundance, affects cotreatment	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
coumarin	decreases phosphorylation	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	increases expression	1
Fulvestrant	decreases methylation	1
Acetaminophen	increases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Manganese	decreases expression, increases abundance, affects cotreatment	1
Tretinoin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice