KANSL2

Summary

KANSL2 (KAT8 regulatory NSL complex subunit 2, HGNC:26024) is a protein-coding gene on chromosome 12q13.11, encoding KAT8 regulatory NSL complex subunit 2 (Q9H9L4). 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 95.9% of cancer cell lines).

Predicted to be involved in positive regulation of DNA-templated transcription. Located in several cellular components, including actin cytoskeleton; cytosol; and nucleoplasm. Part of NSL complex.

Source: NCBI Gene 54934 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 57 total
• Cancer dependency (DepMap): dependent in 95.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_017822

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26024
Approved symbol	KANSL2
Name	KAT8 regulatory NSL complex subunit 2
Location	12q13.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20436, NSL2
Ensembl gene	ENSG00000139620
Ensembl biotype	protein_coding
OMIM	615488
Entrez	54934

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000420613, ENST00000546701, ENST00000547087, ENST00000547536, ENST00000547582, ENST00000548147, ENST00000548254, ENST00000548304, ENST00000548701, ENST00000549463, ENST00000549574, ENST00000550347, ENST00000550870, ENST00000550931, ENST00000553086, ENST00000878543, ENST00000878544, ENST00000878545, ENST00000927139, ENST00000927140, ENST00000944537, ENST00000944538, ENST00000944539, ENST00000944540

RefSeq mRNA: 1 — MANE Select: NM_017822 NM_017822

CCDS: CCDS44869

Canonical transcript exons

ENST00000420613 — 10 exons

Exon	Start	End
ENSE00002393611	48653211	48654175
ENSE00003463557	48654941	48655060
ENSE00003552188	48671799	48671962
ENSE00003557349	48669106	48669272
ENSE00003567485	48679036	48679150
ENSE00003574829	48660366	48660619
ENSE00003579840	48679655	48679833
ENSE00003617588	48681382	48681641
ENSE00003624280	48667693	48667789
ENSE00003903963	48682187	48682238

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 94.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.5398 / max 170.3162, expressed in 1807 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130734	16.3210	1800
130733	3.2188	1233

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue	UBERON:0001134	94.97	gold quality
bone marrow	UBERON:0002371	94.96	gold quality
gastrocnemius	UBERON:0001388	94.29	gold quality
muscle of leg	UBERON:0001383	94.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.98	gold quality
bone marrow cell	CL:0002092	92.94	gold quality
colonic epithelium	UBERON:0000397	92.89	gold quality
ganglionic eminence	UBERON:0004023	92.81	gold quality
cortical plate	UBERON:0005343	92.80	gold quality
muscle tissue	UBERON:0002385	92.76	gold quality
granulocyte	CL:0000094	92.53	gold quality
ventricular zone	UBERON:0003053	92.44	gold quality
cerebellar hemisphere	UBERON:0002245	92.08	gold quality
cerebellum	UBERON:0002037	92.07	gold quality
cerebellar cortex	UBERON:0002129	92.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.00	gold quality
tonsil	UBERON:0002372	91.88	gold quality
left ovary	UBERON:0002119	91.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.47	gold quality
lymph node	UBERON:0000029	91.41	gold quality
right ovary	UBERON:0002118	91.36	gold quality
ovary	UBERON:0000992	91.31	gold quality
urinary bladder	UBERON:0001255	91.18	gold quality
left uterine tube	UBERON:0001303	91.00	gold quality
right testis	UBERON:0004534	90.96	gold quality
spleen	UBERON:0002106	90.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.81	gold quality
calcaneal tendon	UBERON:0003701	90.69	gold quality
body of uterus	UBERON:0009853	90.66	gold quality
tibial nerve	UBERON:0001323	90.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting KANSL2, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548C-5P	99.94	71.24	3488

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 95.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 3)

• our findings indicate that KANSL2 acts to regulate the stem cell population in glioblastoma (PMID:27406830)
• KANSL2 and MBNL3 are regulators of pancreatic ductal adenocarcinoma invasion. (PMID:32001790)
• Ropivacaine represses the proliferation, invasion, and migration of glioblastoma via modulating the microRNA-21-5p/KAT8 regulatory NSL complex subunit 2 axis. (PMID:35191804)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	kansl2	ENSDARG00000056318
mus_musculus	Kansl2	ENSMUSG00000022992
rattus_norvegicus	Kansl2	ENSRNOG00000060185
drosophila_melanogaster	dgt1	FBGN0039710

Protein

Protein identifiers

KAT8 regulatory NSL complex subunit 2 — Q9H9L4 (reviewed: Q9H9L4)

Alternative names: NSL complex protein NSL2, Non-specific lethal 2 homolog

All UniProt accessions (10): Q9H9L4, F8VP38, F8VRX7, F8VUX5, F8VX10, F8VXI8, H0YHH4, H0YHR2, H0YID1, H0YIQ8

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. Required for NSL complex stability and for transcription of intraciliary transport genes in both ciliated and non-ciliated cells by regulating histone H4 acetylation at ‘Lys-5’- and ‘Lys-12’ (H4K5ac and H4K12ac). This is necessary for cilium assembly in ciliated cells and for organization of the microtubule cytoskeleton in non-ciliated cells. Required within the NSL complex to maintain nuclear architecture stability by promoting KAT8-mediated acetylation of lamin LMNA.

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.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H9L4-1	1	yes
Q9H9L4-4	2

RefSeq proteins (1): NP_060292* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025927	Znf_KANL2-like	Domain
IPR026316	NSL2	Family

Pfam: PF13891

UniProt features (18 total): modified residue 6, region of interest 3, splice variant 2, sequence variant 2, compositionally biased region 2, chain 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4CY2	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H9L4-F1	66.86	0.17

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): 172, 175, 78, 131, 147, 149, 168

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: 161 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ATGTTAA_MIR302C, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, WEI_MYCN_TARGETS_WITH_E_BOX, GNF2_FBL, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GCCATNTTG_YY1_Q6, GOCC_TRANSFERASE_COMPLEX, MARSON_BOUND_BY_FOXP3_STIMULATED, KIM_WT1_TARGETS_DN, GOCC_NSL_COMPLEX, REACTOME_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, REACTOME_HATS_ACETYLATE_HISTONES, ASH1L_TARGET_GENES

GO Biological Process (2): chromatin organization (GO:0006325), positive regulation of DNA-templated transcription (GO:0045893)

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

GO Cellular Component (8): histone acetyltransferase complex (GO:0000123), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), cytosol (GO:0005829), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), NSL complex (GO:0044545), nucleus (GO:0005634)

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	2
cytoplasm	2
intracellular membrane-bounded organelle	2
cellular component organization	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
binding	1
chromatin	1
protein acetyltransferase complex	1
nuclear lumen	1
membrane	1
cell periphery	1
cytoskeleton	1
H4 histone acetyltransferase complex	1

Protein interactions and networks

STRING

714 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KANSL2	KANSL3	Q9P2N6	995
KANSL2	MCRS1	Q96EZ8	993
KANSL2	PHF20	Q9BVI0	966
KANSL2	WDR5	P61964	946
KANSL2	OGT	O15294	882
KANSL2	KANSL1	Q7Z3B3	877
KANSL2	KAT8	Q9H7Z6	752
KANSL2	HCFC1	P51610	738
KANSL2	ZNF830	Q96NB3	665
KANSL2	CRNKL1	Q9BZJ0	644
KANSL2	PRCC	Q92733	638
KANSL2	PIM2	Q9P1W9	616
KANSL2	MSL3	Q8N5Y2	563
KANSL2	PHF23	Q9BUL5	489
KANSL2	RBBP5	Q15291	471

IntAct

65 interactions, top by confidence:

A	B	Type	Score
KANSL1	WDR5	psi-mi:“MI:0407”(direct interaction)	0.950
INO80E	YY1	psi-mi:“MI:0914”(association)	0.900
INO80E	TFPT	psi-mi:“MI:0914”(association)	0.790
KANSL2	WDR5	psi-mi:“MI:0407”(direct interaction)	0.790
KANSL2	WDR5	psi-mi:“MI:0915”(physical association)	0.790
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
GPR156	PLD2	psi-mi:“MI:0914”(association)	0.640
KANSL1	FOXK2	psi-mi:“MI:0914”(association)	0.640
PHF20	KANSL1	psi-mi:“MI:0914”(association)	0.640
TULP3	GGPS1	psi-mi:“MI:0914”(association)	0.640
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
KANSL1	PHF20L1	psi-mi:“MI:0914”(association)	0.530
PHF20	PTPN14	psi-mi:“MI:0914”(association)	0.530
NECAB1	CCDC6	psi-mi:“MI:0914”(association)	0.530
GPBP1L1	CNOT1	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
PPIL2	KANSL2	psi-mi:“MI:0915”(physical association)	0.400
Kat8	PHF20L1	psi-mi:“MI:0915”(physical association)	0.400
KANSL2	TSC1	psi-mi:“MI:0915”(physical association)	0.370
IKBKG	KANSL2	psi-mi:“MI:0915”(physical association)	0.370
KANSL2		psi-mi:“MI:0915”(physical association)	0.370
FERMT3	BLTP3B	psi-mi:“MI:0914”(association)	0.350
DCLRE1B	HSPD1	psi-mi:“MI:0914”(association)	0.350
FOXK2	PHF20L1	psi-mi:“MI:0914”(association)	0.350

BioGRID (89): KANSL2 (Co-fractionation), KANSL2 (Reconstituted Complex), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-MS), KANSL2 (Affinity Capture-RNA), KANSL2 (Affinity Capture-MS)

ESM2 similar proteins: A4D161, A6H7A8, E1BGQ2, O70524, O75391, P29084, P29540, P70445, Q14161, Q15650, Q28J59, Q2KJF9, Q2NL14, Q2VPL9, Q32LC9, Q32NC0, Q3ZK22, Q4V8D7, Q4VA36, Q5R595, Q5R802, Q5R9D9, Q5RFL7, Q5XI52, Q5ZJK1, Q66H91, Q6AY70, Q7TNE3, Q861R7, Q86UT8, Q8BND4, Q8BQR4, Q8BXK4, Q8C790, Q8IWR0, Q8K2I9, Q8NFZ0, Q8VDD9, Q8WWQ0, Q922H9

Diamond homologs: A1L1F6, Q2NL14, Q53TQ3, Q54J07, Q566I1, Q5R802, Q66JY2, Q6AY70, Q861R7, Q8BQR4, Q9H9L4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
KANSL2	“form complex”	“NSL histone acetyltransferase”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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	48.3×	1e-09
UCH proteinases	5	14.1×	3e-03
HATs acetylate histones	6	10.8×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	5	21.6×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2074 predictions. Top by Δscore:

Variant	Effect	Δscore
12:48654935:A:AC	donor_gain	1.0000
12:48654936:C:CC	donor_gain	1.0000
12:48660364:A:AC	donor_gain	1.0000
12:48660365:C:CC	donor_gain	1.0000
12:48660365:CAT:C	donor_gain	1.0000
12:48660365:CATCA:C	donor_gain	1.0000
12:48669269:CTGC:C	acceptor_gain	1.0000
12:48669270:TGC:T	acceptor_gain	1.0000
12:48669270:TGCCT:T	acceptor_loss	1.0000
12:48669271:GC:G	acceptor_gain	1.0000
12:48669272:CC:C	acceptor_gain	1.0000
12:48669273:C:CC	acceptor_gain	1.0000
12:48669273:CTAGA:C	acceptor_loss	1.0000
12:48669279:T:TC	acceptor_gain	1.0000
12:48671807:T:TA	donor_gain	1.0000
12:48671958:CATGT:C	acceptor_gain	1.0000
12:48671959:ATGT:A	acceptor_gain	1.0000
12:48671960:TGT:T	acceptor_gain	1.0000
12:48671961:GT:G	acceptor_gain	1.0000
12:48671963:C:CC	acceptor_gain	1.0000
12:48671968:A:AC	acceptor_gain	1.0000
12:48671968:A:C	acceptor_gain	1.0000
12:48671974:CAGAA:C	acceptor_gain	1.0000
12:48679028:CAA:C	donor_gain	1.0000
12:48679029:AACTT:A	donor_loss	1.0000
12:48679030:ACTTA:A	donor_loss	1.0000
12:48679031:CTT:C	donor_loss	1.0000
12:48679032:TTA:T	donor_loss	1.0000
12:48679033:TA:T	donor_loss	1.0000
12:48679034:A:AC	donor_gain	1.0000

AlphaMissense

3231 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:48667700:G:C	C322W	1.000
12:48667702:A:G	C322R	1.000
12:48667735:A:G	C311R	1.000
12:48667760:G:C	C302W	1.000
12:48667761:C:G	C302S	1.000
12:48667762:A:G	C302R	1.000
12:48667762:A:T	C302S	1.000
12:48671855:A:G	L218P	1.000
12:48671867:A:G	L214P	1.000
12:48671876:A:G	F211S	1.000
12:48671895:A:G	S205P	1.000
12:48671900:A:G	L203S	1.000
12:48671903:C:G	R202P	1.000
12:48671909:A:G	L200P	1.000
12:48671918:C:G	R197P	1.000
12:48671949:A:C	Y187D	1.000
12:48671957:G:T	A184D	1.000
12:48679039:A:G	L181P	1.000
12:48681419:A:G	C72R	1.000
12:48681452:A:G	C61R	1.000
12:48681497:A:G	C46R	1.000
12:48660515:A:G	C360R	0.999
12:48660557:A:G	C346R	0.999
12:48660581:A:G	C338R	0.999
12:48667701:C:A	C322F	0.999
12:48667701:C:G	C322S	0.999
12:48667701:C:T	C322Y	0.999
12:48667702:A:T	C322S	0.999
12:48667733:A:C	C311W	0.999
12:48667734:C:G	C311S	0.999

dbSNP variants (sampled 300 via entrez): RS1000091379 (12:48681275 A>C,T), RS1000107764 (12:48677644 G>A), RS1000113522 (12:48653134 G>A,C), RS1000141125 (12:48652989 A>G), RS1000294553 (12:48669038 C>T), RS1000324787 (12:48658977 A>T), RS1000383936 (12:48671290 T>A), RS1000477292 (12:48681236 C>T), RS1000524999 (12:48663378 A>C), RS1000525599 (12:48676859 C>T), RS1000654104 (12:48659276 A>G), RS1000685553 (12:48682333 G>A,T), RS1000804001 (12:48675174 C>T), RS1001115628 (12:48654762 A>G), RS1001129637 (12:48664589 T>C)

Disease associations

OMIM: gene MIM:615488 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): intellectual disability (MONDO:0001071)

Orphanet (1): NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002595_10	Clozapine-induced agranulocytosis	1.000000e-06
GCST009311_7	Letter-number span reordering	6.000000e-06
GCST011832_2	Pediatric central nervous system tumors (pleiotropy)	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression	3
Air Pollutants	affects expression, affects cotreatment, decreases expression, increases abundance	2
Ozone	affects cotreatment, decreases expression, increases abundance, affects expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
beta-lapachone	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Arsenic	affects methylation	1
Cisplatin	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Selenium	decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders