KLHL13

Summary

KLHL13 (kelch like family member 13, HGNC:22931) is a protein-coding gene on chromosome Xq24, encoding Kelch-like protein 13 (Q9P2N7). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis.

This gene encodes a BTB and kelch domain containing protein and belongs to the kelch repeat domain containing superfamily of proteins. The encoded protein functions as an adaptor protein that complexes with Cullin 3 and other proteins to form the Cullin 3-based E3 ubiquitin-protein ligase complex. This complex is necessary for proper chromosome segregation and completion of cytokinesis. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 90293 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 155 total — 1 pathogenic
• MANE Select transcript: NM_001168302

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22931
Approved symbol	KLHL13
Name	kelch like family member 13
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10262
Ensembl gene	ENSG00000003096
Ensembl biotype	protein_coding
OMIM	300655
Entrez	90293

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 retained_intron

ENST00000262820, ENST00000371876, ENST00000371878, ENST00000371882, ENST00000453826, ENST00000469946, ENST00000540167, ENST00000541812, ENST00000881390, ENST00000881391, ENST00000952520

RefSeq mRNA: 9 — MANE Select: NM_001168302 NM_001168299, NM_001168300, NM_001168301, NM_001168302, NM_001168303, NM_001394863, NM_001394864, NM_001394866, NM_033495

CCDS: CCDS14571, CCDS55480, CCDS55481, CCDS94657

Canonical transcript exons

ENST00000540167 — 8 exons

Exon	Start	End
ENSE00000344690	117920238	117920370
ENSE00000675179	117919521	117919717
ENSE00000817592	117901833	117901946
ENSE00000817593	117909301	117910096
ENSE00001456381	117897813	117899395
ENSE00002255329	118116508	118116810
ENSE00002316175	118028424	118028497
ENSE00003565278	117945434	117945575

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 90.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2515 / max 325.7156, expressed in 1119 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200262	3.8526	1032
200261	1.5730	639
200260	0.1841	71
200256	0.1791	56
200250	0.1354	56
200254	0.0815	40
200253	0.0626	40
200251	0.0547	27
200255	0.0489	24
200259	0.0404	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
smooth muscle tissue	UBERON:0001135	90.91	gold quality
body of uterus	UBERON:0009853	88.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.28	gold quality
adrenal tissue	UBERON:0018303	87.87	gold quality
substantia nigra pars reticulata	UBERON:0001966	87.58	gold quality
myometrium	UBERON:0001296	86.94	gold quality
bronchial epithelial cell	CL:0002328	86.16	gold quality
metanephros	UBERON:0000081	85.63	gold quality
endocervix	UBERON:0000458	85.55	gold quality
cauda epididymis	UBERON:0004360	85.44	gold quality
mammary duct	UBERON:0001765	84.93	gold quality
bronchus	UBERON:0002185	84.89	gold quality
kidney epithelium	UBERON:0004819	84.85	gold quality
substantia nigra pars compacta	UBERON:0001965	84.80	gold quality
epithelium of mammary gland	UBERON:0003244	84.76	gold quality
uterus	UBERON:0000995	84.50	gold quality
seminal vesicle	UBERON:0000998	83.88	gold quality
cortical plate	UBERON:0005343	82.95	gold quality
lateral nuclear group of thalamus	UBERON:0002736	82.62	gold quality
endometrium	UBERON:0001295	82.28	gold quality
uterine cervix	UBERON:0000002	82.27	gold quality
caudate nucleus	UBERON:0001873	82.21	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.19	gold quality
ventricular zone	UBERON:0003053	81.80	gold quality
mammary gland	UBERON:0001911	81.43	gold quality
nucleus accumbens	UBERON:0001882	81.41	gold quality
thoracic mammary gland	UBERON:0005200	81.40	gold quality
left ventricle myocardium	UBERON:0006566	81.33	silver quality
kidney	UBERON:0002113	81.18	gold quality
pigmented layer of retina	UBERON:0001782	80.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	1302.46
E-GEOD-124472	yes	374.56
E-CURD-119	yes	64.62
E-HCAD-25	yes	7.37
E-ANND-3	yes	5.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting KLHL13, 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-3613-3P	100.00	76.36	7965
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-518A-5P	99.70	69.01	2209

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	klhl13	ENSDARG00000086463
danio_rerio		ENSDARG00000103786
mus_musculus	Klhl13	ENSMUSG00000036782
rattus_norvegicus	Klhl13	ENSRNOG00000014029

Paralogs (54): 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), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch-like protein 13 — Q9P2N7 (reviewed: Q9P2N7)

Alternative names: BTB and kelch domain-containing protein 2

All UniProt accessions (3): Q9P2N7, A0A0C4DG80, C9JTS9

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

Subunit / interactions. Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13 and RBX1. Interacts with AURKB.

Pathway. Protein modification; protein ubiquitination.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9P2N7-1	1	yes
Q9P2N7-2	2
Q9P2N7-3	3
Q9P2N7-4	4
Q9P2N7-5	5

RefSeq proteins (9): NP_001161771, NP_001161772, NP_001161773, NP_001161774, NP_001161775, NP_001381792, NP_001381793, NP_001381795, NP_277030 (=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

Pfam: PF00651, PF01344, PF07707, PF24681

UniProt features (18 total): repeat 6, splice variant 4, sequence conflict 3, domain 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2N7-F1	87.97	0.82

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 182 (showing top): FXR_IR1_Q6, BENPORATH_ES_WITH_H3K27ME3, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, NKX25_02, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, PAX8_B, SOX9_B1, MARTINEZ_RB1_TARGETS_DN, GOBP_CYTOKINESIS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_CYTOKINESIS

GO Biological Process (3): protein ubiquitination (GO:0016567), regulation of cytokinesis (GO:0032465), cell division (GO:0051301)

GO Molecular Function (3): cullin family protein binding (GO:0097602), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), Cul3-RING ubiquitin ligase complex (GO:0031463)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein modification by small protein conjugation	1
cytokinesis	1
regulation of cell cycle process	1
regulation of cell division	1
cellular process	1
protein binding	1
ubiquitin-like protein transferase activity	1
binding	1
cytoplasm	1
cellular anatomical structure	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

832 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KLHL13	CUL3	Q13618	980
KLHL13	AURKB	Q96GD4	809
KLHL13	KLHL9	Q9P2J3	768
KLHL13	RBX1	P62877	555
KLHL13	TMEM26	Q6ZUK4	485
KLHL13	KAAG1	Q9UBP8	432
KLHL13	ASB15	Q8WXK1	419
KLHL13	ANAPC13	Q9BS18	393
KLHL13	DGKK	Q5KSL6	328
KLHL13	NHLRC2	Q8NBF2	327
KLHL13	ZCRB1	Q8TBF4	324
KLHL13	SLC27A1	Q6PCB7	321
KLHL13	KATNA1	O75449	315
KLHL13	PRDM16	Q9HAZ2	314
KLHL13	DCUN1D1	Q96GG9	305

IntAct

109 interactions, top by confidence:

A	B	Type	Score
HEXIM1	CCNT1	psi-mi:“MI:0914”(association)	0.930
CUL3	KLHL12	psi-mi:“MI:0914”(association)	0.920
PGBD1	ZNF24	psi-mi:“MI:0914”(association)	0.900
KLHL9	CUL3	psi-mi:“MI:0914”(association)	0.860
KLHL12	KLHL2	psi-mi:“MI:0914”(association)	0.850
CUL3	RBX1	psi-mi:“MI:0914”(association)	0.820
KLHL13	CUL3	psi-mi:“MI:0915”(physical association)	0.810
KLHL13	CUL3	psi-mi:“MI:0914”(association)	0.810
FBXL17	SKP1	psi-mi:“MI:0914”(association)	0.790
HEXIM2	AHCYL1	psi-mi:“MI:0914”(association)	0.740
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
KLHL26	CUL3	psi-mi:“MI:0914”(association)	0.730
KLHL24	CUL3	psi-mi:“MI:0914”(association)	0.730
FBXL17	BACH1	psi-mi:“MI:0914”(association)	0.730
KLHL13	COPS2	psi-mi:“MI:0914”(association)	0.640
KLHL21	CUL3	psi-mi:“MI:0914”(association)	0.640
KLHL25	ENC1	psi-mi:“MI:0914”(association)	0.640
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
KLHL22	METTL15	psi-mi:“MI:0914”(association)	0.640
ZNF414	AHCYL1	psi-mi:“MI:0914”(association)	0.640
ETV6	LRP5	psi-mi:“MI:0914”(association)	0.640
KLHL15	TOR1AIP1	psi-mi:“MI:0914”(association)	0.640
KLHL9	ENC1	psi-mi:“MI:0914”(association)	0.640
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
PDGFRB	PIK3R2	psi-mi:“MI:0914”(association)	0.610
COPS5	KLHL18	psi-mi:“MI:0914”(association)	0.530

BioGRID (138): KLHL13 (Affinity Capture-MS), KLHL22 (Affinity Capture-MS), KLHL21 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), KLHL9 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS), KLHL13 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430

Diamond homologs: A0JN76, A1YPR0, A6QQY2, B0WWP2, B1WBS3, B2RXF5, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D2HEW7, D3ZZC3, E0CZ16, E9Q4F2, F1LZ52, F1MBP6, O14867, O15062, O43167, O88282, O88939, O93567, O94889, O95365, P97302, P97303, Q08CY1, Q0IJ29, Q0P4X6, Q13105, Q16RL8, Q1L8W0, Q2M0J9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
KLHL13	“up-regulates activity”	AURKB	binding
KLHL13	“up-regulates activity”	“Cullin 3-RBX1-Skp1”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 135 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
DNA Damage Recognition in GG-NER	7	24.1×	3e-06
Formation of TC-NER Pre-Incision Complex	7	17.8×	2e-05
GSK3B-mediated proteasomal degradation of PD-L1(CD274)	5	14.3×	2e-03
Degradation of GLI1 by the proteasome	5	13.5×	2e-03
Degradation of GLI2 by the proteasome	5	13.5×	2e-03
GLI3 is processed to GLI3R by the proteasome	5	13.5×	2e-03
Neddylation	18	10.3×	6e-11
KEAP1-NFE2L2 pathway	6	8.7×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of protein neddylation	6	47.2×	6e-07
protein neddylation	7	41.3×	2e-07
protein monoubiquitination	6	17.3×	2e-04
protein K48-linked ubiquitination	6	8.5×	9e-03
proteasome-mediated ubiquitin-dependent protein catabolic process	16	7.0×	5e-07
protein ubiquitination	17	5.9×	1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	34
Likely benign	9
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	Pathogenic

SpliceAI

1468 predictions. Top by Δscore:

Variant	Effect	Δscore
X:117901828:TTTA:T	donor_loss	1.0000
X:117901829:TTAC:T	donor_loss	1.0000
X:117901830:TACC:T	donor_loss	1.0000
X:117901831:A:C	donor_loss	1.0000
X:117901832:CC:C	donor_loss	1.0000
X:117901942:TGTGG:T	acceptor_gain	1.0000
X:117901943:GTGG:G	acceptor_gain	1.0000
X:117901944:TGG:T	acceptor_gain	1.0000
X:117901945:GG:G	acceptor_gain	1.0000
X:117901947:C:CC	acceptor_gain	1.0000
X:117901949:G:C	acceptor_gain	1.0000
X:117901950:T:C	acceptor_gain	1.0000
X:117901950:T:TC	acceptor_gain	1.0000
X:117909299:A:AC	donor_gain	1.0000
X:117909300:C:CC	donor_gain	1.0000
X:117909300:CG:C	donor_gain	1.0000
X:117919515:TCTTA:T	donor_loss	1.0000
X:117919516:CTTAC:C	donor_loss	1.0000
X:117919517:TTAC:T	donor_loss	1.0000
X:117919518:TACCC:T	donor_loss	1.0000
X:117919519:A:T	donor_loss	1.0000
X:117919519:ACC:A	donor_gain	1.0000
X:117919520:C:T	donor_loss	1.0000
X:117919520:CCC:C	donor_gain	1.0000
X:117919538:CT:C	donor_gain	1.0000
X:117919539:TT:T	donor_gain	1.0000
X:117919540:TT:T	donor_gain	1.0000
X:117919714:CCAC:C	acceptor_gain	1.0000
X:117919715:CAC:C	acceptor_gain	1.0000
X:117919715:CACCT:C	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000013080 (X:117960570 T>C), RS1000021844 (X:117912695 C>T), RS1000026730 (X:118022964 C>T), RS1000075131 (X:117923655 T>C), RS1000080311 (X:117951848 G>A), RS1000090073 (X:118001115 C>A), RS1000118558 (X:118073553 TAA>T), RS1000128829 (X:117967198 T>C), RS1000131158 (X:117927742 C>A), RS1000135985 (X:118084261 A>T), RS1000155244 (X:118044008 A>G), RS1000172796 (X:117987105 C>T), RS1000203803 (X:117923801 C>A,T), RS1000210460 (X:117928218 T>C,G), RS1000218260 (X:117987581 T>C)

Disease associations

OMIM: gene MIM:300655 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	X-linked

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
GCST000301_4	Iron status biomarkers	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004461	iron biomarker measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, decreases expression, increases abundance	4
Valproic Acid	affects expression, decreases expression, decreases methylation, increases expression	4
trichostatin A	decreases expression, affects cotreatment	3
Particulate Matter	decreases expression, increases abundance, increases expression	3
bisphenol A	decreases expression, decreases methylation, increases methylation	2
sodium arsenite	decreases expression	2
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	2
Acrolein	affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Ozone	affects cotreatment, decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	2
aristolochic acid I	decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
propionaldehyde	increases expression	1
kojic acid	increases expression	1
3,4-dichloroaniline	decreases expression	1
sulforaphane	decreases expression	1
cobaltous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression	1
perfluorooctane sulfonic acid	decreases 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	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	decreases expression	1
bisphenol S	increases methylation, affects cotreatment	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases 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