KBTBD2

Summary

KBTBD2 (kelch repeat and BTB domain containing 2, HGNC:21751) is a protein-coding gene on chromosome 7p14.3, encoding Kelch repeat and BTB domain-containing protein 2 (Q8IY47). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of the insulin signaling pathway, modulating insulin sensitivity by limiting PIK3R1/p85alpha abundance in adipocytes.

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm.

Source: NCBI Gene 25948 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_015483

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21751
Approved symbol	KBTBD2
Name	kelch repeat and BTB domain containing 2
Location	7p14.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP566C134
Ensembl gene	ENSG00000170852
Ensembl biotype	protein_coding
OMIM	619393
Entrez	25948

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 15 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000304056, ENST00000423022, ENST00000424468, ENST00000452926, ENST00000453627, ENST00000477129, ENST00000485611, ENST00000896919, ENST00000896920, ENST00000896921, ENST00000896922, ENST00000896923, ENST00000944823, ENST00000944824, ENST00000944825, ENST00000944826, ENST00000944827

RefSeq mRNA: 1 — MANE Select: NM_015483 NM_015483

CCDS: CCDS34614

Canonical transcript exons

ENST00000304056 — 4 exons

Exon	Start	End
ENSE00001123451	32879435	32879942
ENSE00001317105	32868172	32870880
ENSE00001325037	32891536	32891760
ENSE00003683017	32874992	32875157

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 98.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1758 / max 217.8347, expressed in 1779 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
83505	5.6886	1590
83502	2.2544	1062
83504	1.6889	1094
83503	1.2981	868
83506	0.9238	574
83501	0.2694	108
83499	0.0527	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.34	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.01	gold quality
endothelial cell	CL:0000115	96.40	gold quality
inferior olivary complex	UBERON:0002127	96.22	gold quality
ventricular zone	UBERON:0003053	95.86	gold quality
ganglionic eminence	UBERON:0004023	95.44	gold quality
tendon of biceps brachii	UBERON:0008188	94.86	gold quality
middle temporal gyrus	UBERON:0002771	94.72	gold quality
cortical plate	UBERON:0005343	94.18	gold quality
medial globus pallidus	UBERON:0002477	94.08	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.44	gold quality
globus pallidus	UBERON:0001875	92.82	gold quality
pleura	UBERON:0000977	92.65	gold quality
parietal pleura	UBERON:0002400	92.64	gold quality
adrenal tissue	UBERON:0018303	92.64	gold quality
visceral pleura	UBERON:0002401	92.58	gold quality
oocyte	CL:0000023	92.52	gold quality
biceps brachii	UBERON:0001507	92.48	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.36	gold quality
esophagus squamous epithelium	UBERON:0006920	92.36	gold quality
muscle of leg	UBERON:0001383	92.35	gold quality
gastrocnemius	UBERON:0001388	92.17	gold quality
tendon	UBERON:0000043	92.11	gold quality
primary visual cortex	UBERON:0002436	92.00	gold quality
muscle organ	UBERON:0001630	91.98	gold quality
vastus lateralis	UBERON:0001379	91.65	gold quality
renal glomerulus	UBERON:0000074	91.58	gold quality
metanephric glomerulus	UBERON:0004736	91.54	gold quality
tibia	UBERON:0000979	91.51	gold quality
gall bladder	UBERON:0002110	91.47	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.47
E-MTAB-5061	yes	5.88
E-MTAB-7303	no	761.70
E-MTAB-10137	no	5.26

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

174 targeting KBTBD2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
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-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-302E	99.96	70.74	2669

Literature-anchored findings (GeneRIF, showing 1)

• Dynamic molecular architecture and substrate recruitment of cullin3-RING E3 ligase CRL3[KBTBD2]. (PMID:38332366)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kbtbd2	ENSDARG00000087226
mus_musculus	Kbtbd2	ENSMUSG00000059486
rattus_norvegicus	Kbtbd2	ENSRNOG00000013809

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch repeat and BTB domain-containing protein 2 — Q8IY47 (reviewed: Q8IY47)

Alternative names: BTB and kelch domain-containing protein 1

All UniProt accessions (5): A0A024RA38, C9JI11, C9JUE5, C9JZ29, Q8IY47

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of the insulin signaling pathway, modulating insulin sensitivity by limiting PIK3R1/p85alpha abundance in adipocytes. Targets PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase (PI3K), for ‘Lys-48’-linked polyubiquitination and proteasome-mediated degradation.

Subunit / interactions. Component of the BCR(KBTBD2) E3 ubiquitin ligase complex, at least composed of CUL3, KBTBD2 and RBX1. Interacts (via the BTB domain) with CUL3.

Domain organisation. Recognizes the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex substrate, PIK3R1, through the 4 tandem C-terminal Kelch domains.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_056298* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR006652	Kelch_1	Repeat
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR017096	BTB-kelch_protein	Family
IPR030586	BTB_POZ_KBTBD2	Domain
IPR047074	KBTBD2_BACK	Domain

Pfam: PF00651, PF01344, PF07707

UniProt features (20 total): sequence variant 7, repeat 5, sequence conflict 4, domain 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
8GQ6	ELECTRON MICROSCOPY	3.96
8H38	ELECTRON MICROSCOPY	4.25
8H36	ELECTRON MICROSCOPY	4.6
8H3R	ELECTRON MICROSCOPY	6.36
8H3F	ELECTRON MICROSCOPY	6.73
8H35	ELECTRON MICROSCOPY	7.41
8H3A	ELECTRON MICROSCOPY	7.51
8H37	ELECTRON MICROSCOPY	7.52
8H33	ELECTRON MICROSCOPY	7.86
8H34	ELECTRON MICROSCOPY	7.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IY47-F1	86.57	0.66

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 (1): 300

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 284 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, FREAC2_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MORF_RAD21, ACTGCAG_MIR173P, NAGASHIMA_NRG1_SIGNALING_UP, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, MORF_RAF1, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_RESPONSE_TO_INSULIN, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (11): protein polyubiquitination (GO:0000209), glucose metabolic process (GO:0006006), lipid metabolic process (GO:0006629), gene expression (GO:0010467), response to insulin (GO:0032868), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), protein K48-linked ubiquitination (GO:0070936), regulation of cellular response to insulin stimulus (GO:1900076), protein ubiquitination (GO:0016567), cellular response to insulin stimulus (GO:0032869)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), Cul3-RING ubiquitin ligase complex (GO:0031463)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein ubiquitination	1
hexose metabolic process	1
primary metabolic process	1
macromolecule biosynthetic process	1
response to peptide hormone	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
intracellular signaling cassette	1
protein polyubiquitination	1
cellular response to insulin stimulus	1
regulation of response to stimulus	1
regulation of cellular process	1
protein modification by small protein conjugation	1
response to insulin	1
cellular response to peptide hormone stimulus	1
enzyme-substrate adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

598 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KBTBD2	SYPL2	Q5VXT5	507
KBTBD2	SPATA33	Q96N06	447
KBTBD2	A1CF	Q9NQ94	445
KBTBD2	LSM5	Q9Y4Y9	436
KBTBD2	AP5B1	Q2VPB7	435
KBTBD2	COP1	Q8NHY2	430
KBTBD2	UNCX	A6NJT0	400
KBTBD2	BCAS1	O75363	399
KBTBD2	SIPA1L3	O60292	383
KBTBD2	LAPTM4A	Q15012	364
KBTBD2	SDCCAG8	Q86SQ7	352
KBTBD2	METTL25B	Q96FB5	349
KBTBD2	PLD5	Q8N7P1	333
KBTBD2	PTPRO	Q16827	330
KBTBD2	RNF32	Q9H0A6	328

IntAct

15 interactions, top by confidence:

A	B	Type	Score
LMO1	ZBTB43	psi-mi:“MI:0914”(association)	0.830
CUL3	ENC1	psi-mi:“MI:0914”(association)	0.640
CUL3	RHOBTB1	psi-mi:“MI:0914”(association)	0.530
CUL3	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
FMR1	LGALS3BP	psi-mi:“MI:0914”(association)	0.530
CAMK2D	DVL2	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
CUL3	KLHL2	psi-mi:“MI:0914”(association)	0.350
ALOX15B	TAF5L	psi-mi:“MI:0914”(association)	0.350
FMR1	LGALS3BP	psi-mi:“MI:0914”(association)	0.350
SLC4A4	SAP18	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (37): KBTBD2 (Affinity Capture-RNA), KBTBD2 (Affinity Capture-MS), CUL3 (Affinity Capture-Western), KBTBD2 (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western), KBTBD2 (Reconstituted Complex), KBTBD2 (Affinity Capture-MS), KBTBD2 (Affinity Capture-MS), KBTBD2 (Affinity Capture-MS), KBTBD2 (Proximity Label-MS), KBTBD2 (Proximity Label-MS), KBTBD2 (Affinity Capture-MS), KBTBD2 (Affinity Capture-MS), KBTBD2 (Affinity Capture-MS), KBTBD2 (Affinity Capture-MS)

ESM2 similar proteins: A2AAX3, A2AUC9, B3DIV9, D2HEW7, D3ZA50, D3ZZC3, E9QJ30, G3X9X1, O14682, O35709, O60662, Q08BL9, Q0D2A9, Q1LYM6, Q2TBA0, Q2WGJ6, Q3B7M1, Q4KLM4, Q53GT1, Q56A24, Q5EB39, Q5RCQ9, Q5RDY3, Q5RGB8, Q5U504, Q5U575, Q5ZJU2, Q66HD2, Q6DEL7, Q6DFF7, Q6GQU2, Q6NYM1, Q6Q7X9, Q6TFL4, Q6V595, Q8BRG6, Q8BWA5, Q8CA72, Q8IY47, Q8N4N3

Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

703 predictions. Top by Δscore:

Variant	Effect	Δscore
7:32875153:TGGCC:T	acceptor_gain	1.0000
7:32875156:CC:C	acceptor_gain	1.0000
7:32875157:CC:C	acceptor_gain	1.0000
7:32875158:C:CC	acceptor_gain	1.0000
7:32870877:CTAC:C	acceptor_gain	0.9900
7:32870881:C:CG	acceptor_loss	0.9900
7:32870882:T:A	acceptor_loss	0.9900
7:32874986:GCTTA:G	donor_loss	0.9900
7:32874987:CTTAC:C	donor_loss	0.9900
7:32874988:TTACC:T	donor_loss	0.9900
7:32874989:TAC:T	donor_loss	0.9900
7:32874990:ACCTG:A	donor_loss	0.9900
7:32875154:GGCC:G	acceptor_gain	0.9900
7:32875155:GCC:G	acceptor_gain	0.9900
7:32875156:CCC:C	acceptor_gain	0.9900
7:32875157:CCTA:C	acceptor_loss	0.9900
7:32875158:CT:C	acceptor_loss	0.9900
7:32875159:T:A	acceptor_loss	0.9900
7:32879943:C:CC	acceptor_gain	0.9900
7:32891531:CTCA:C	donor_loss	0.9900
7:32891532:TCA:T	donor_loss	0.9900
7:32891533:CACC:C	donor_loss	0.9900
7:32891534:A:AT	donor_loss	0.9900
7:32891534:AC:A	donor_gain	0.9900
7:32891535:C:CA	donor_loss	0.9900
7:32891535:CC:C	donor_gain	0.9900
7:32891535:CCCG:C	donor_gain	0.9900
7:32870881:C:CC	acceptor_gain	0.9800
7:32870886:A:AC	acceptor_gain	0.9800
7:32879792:T:TA	donor_gain	0.9800

AlphaMissense

4116 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:32869992:A:G	W409R	1.000
7:32869992:A:T	W409R	1.000
7:32870437:T:A	R260S	1.000
7:32870437:T:G	R260S	1.000
7:32870438:C:G	R260T	1.000
7:32870554:T:A	R221S	1.000
7:32870554:T:G	R221S	1.000
7:32870555:C:A	R221I	1.000
7:32870555:C:G	R221T	1.000
7:32870556:T:C	R221G	1.000
7:32870616:A:G	W201R	1.000
7:32870616:A:T	W201R	1.000
7:32870636:A:T	V194D	1.000
7:32870660:A:G	L186S	1.000
7:32869536:A:G	W561R	0.999
7:32869536:A:T	W561R	0.999
7:32869692:A:G	W509R	0.999
7:32869692:A:T	W509R	0.999
7:32869872:A:G	W449R	0.999
7:32869872:A:T	W449R	0.999
7:32869990:C:A	W409C	0.999
7:32869990:C:G	W409C	0.999
7:32870013:A:C	Y402D	0.999
7:32870139:A:G	W360R	0.999
7:32870139:A:T	W360R	0.999
7:32870432:C:A	G262V	0.999
7:32870432:C:T	G262E	0.999
7:32870433:C:A	G262W	0.999
7:32870433:C:G	G262R	0.999
7:32870433:C:T	G262R	0.999

dbSNP variants (sampled 300 via entrez): RS1000042026 (7:32879908 G>A), RS1000126168 (7:32891023 G>A), RS1000214870 (7:32875740 T>G), RS1000457866 (7:32889986 T>C), RS1000500856 (7:32885414 T>A), RS1000534939 (7:32880552 A>AG,AT), RS1000604902 (7:32882120 T>C), RS1000878183 (7:32890787 A>G), RS1000941900 (7:32891104 G>A,C,T), RS1000996389 (7:32886121 G>A), RS1001246747 (7:32890965 G>A,T), RS1001435899 (7:32872872 T>C), RS1001591804 (7:32881121 T>A,C), RS1001643516 (7:32878601 C>A), RS1001673559 (7:32884757 T>C)

Disease associations

OMIM: gene MIM:619393 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal recessive

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003372_33	Glomerular filtration rate (creatinine)	3.000000e-08
GCST004611_74	High light scatter reticulocyte count	6.000000e-09
GCST004612_33	High light scatter reticulocyte percentage of red cells	3.000000e-10
GCST004619_185	Reticulocyte fraction of red cells	2.000000e-10
GCST007576_425	Chronotype	2.000000e-12
GCST008058_154	Estimated glomerular filtration rate	2.000000e-14
GCST90000025_339	Appendicular lean mass	2.000000e-19
GCST90002390_243	Mean corpuscular hemoglobin	5.000000e-16

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007986	reticulocyte count
EFO:0008328	chronotype measurement
EFO:0004980	appendicular lean mass
EFO:0004527	mean corpuscular hemoglobin

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	6
trichostatin A	affects cotreatment, decreases expression, affects expression	3
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
geldanamycin	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
afimoxifene	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1
Vorinostat	decreases expression	1
Leflunomide	increases expression	1
Air Pollutants, Occupational	affects expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Phthalic Acids	decreases methylation	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