AJAP1

Summary

AJAP1 (adherens junctions associated protein 1, HGNC:30801) is a protein-coding gene on chromosome 1p36.32, encoding Adherens junction-associated protein 1 (Q9UKB5). Plays a role in cell adhesion and cell migration.

Enables beta-catenin binding activity. Involved in negative regulation of cell-matrix adhesion; negative regulation of wound healing; and regulation of polarized epithelial cell differentiation. Located in several cellular components, including adherens junction; basolateral plasma membrane; and cell-cell contact zone.

Source: NCBI Gene 55966 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
• GWAS associations: 21
• Clinical variants (ClinVar): 79 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_018836

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30801
Approved symbol	AJAP1
Name	adherens junctions associated protein 1
Location	1p36.32
Locus type	gene with protein product
Status	Approved
Aliases	SHREW1, SHREW-1, MOT8
Ensembl gene	ENSG00000196581
Ensembl biotype	protein_coding
OMIM	610972
Entrez	55966

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000378190, ENST00000378191, ENST00000466761, ENST00000880749

RefSeq mRNA: 2 — MANE Select: NM_018836 NM_001042478, NM_018836

CCDS: CCDS54

Canonical transcript exons

ENST00000378191 — 6 exons

Exon	Start	End
ENSE00000735086	4769853	4769940
ENSE00000735089	4772280	4772525
ENSE00001122242	4774427	4774558
ENSE00001122248	4711900	4712699
ENSE00001476603	4782545	4792534
ENSE00001476607	4654609	4655454

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 86.85.

FANTOM5 (CAGE): breadth broad, TPM avg 2.9342 / max 62.8889, expressed in 432 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
336	2.1529	405
339	0.4802	144
337	0.1563	91
340	0.1033	59
338	0.0415	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
orbitofrontal cortex	UBERON:0004167	86.85	gold quality
Brodmann (1909) area 46	UBERON:0006483	84.49	gold quality
Brodmann (1909) area 23	UBERON:0013554	84.33	gold quality
postcentral gyrus	UBERON:0002581	82.93	gold quality
primary visual cortex	UBERON:0002436	81.40	gold quality
superior frontal gyrus	UBERON:0002661	81.03	gold quality
entorhinal cortex	UBERON:0002728	80.61	gold quality
parietal lobe	UBERON:0001872	80.00	gold quality
endothelial cell	CL:0000115	79.34	gold quality
prefrontal cortex	UBERON:0000451	78.57	gold quality
CA1 field of hippocampus	UBERON:0003881	78.37	gold quality
Brodmann (1909) area 10	UBERON:0013541	78.30	gold quality
frontal pole	UBERON:0002795	78.25	gold quality
frontal cortex	UBERON:0001870	77.32	gold quality
neocortex	UBERON:0001950	76.84	gold quality
middle frontal gyrus	UBERON:0002702	76.77	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	76.52	gold quality
cerebral cortex	UBERON:0000956	76.41	gold quality
occipital lobe	UBERON:0002021	76.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.15	silver quality
cingulate cortex	UBERON:0003027	75.14	gold quality
cortical plate	UBERON:0005343	75.11	gold quality
middle temporal gyrus	UBERON:0002771	75.08	gold quality
anterior cingulate cortex	UBERON:0009835	75.00	gold quality
Brodmann (1909) area 9	UBERON:0013540	75.00	gold quality
paraflocculus	UBERON:0005351	74.84	gold quality
Ammon’s horn	UBERON:0001954	74.74	gold quality
telencephalon	UBERON:0001893	74.72	gold quality
right frontal lobe	UBERON:0002810	74.71	gold quality
nucleus accumbens	UBERON:0001882	73.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting AJAP1, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-3121-3P	99.82	71.96	3630

Literature-anchored findings (GeneRIF, showing 19)

• While a mutation was not detected in the coding region of the SHREW1 gene in oligodendrogliomas, SHREW1 expression restoration resulted in suppression of cell adhesion and migration, thus, SHREW1 inactivation may lead to oligodendroglial tumorigenesis. (PMID:16410724)
• Adaptor protein complex AP-1B is involved in retaining shrew-1 at the basolateral membrane by postendocytic sorting mechanisms. (PMID:16707570)
• shrew-1 has a function in the regulation of cellular invasion, which may involve its interaction with CD147 (PMID:17267690)
• synergism between a signal peptide and a transmembrane segment to mediate plasma membrane localization is essential for structural and/or functional integrity of shrew-1 (PMID:18485053)
• Data show that overexpression of shrew-1 leads to preformation of an E-cadherin/EGF receptor/HER2/src-kinase/shrew-1 signaling complex and accelerated E-cadherin internalization. (PMID:19515834)
• Both genetic (gene deletion) and epigenetic alterations (promoter methylation) are likely mechanisms that inactivate the putative tumor suppressor AJAP1 in gliomas, which contributes to poor prognosis. (PMID:21439246)
• This work shows the significant loss of expression of AJAP1 in glioblastoma and provides evidence of its role in the highly migratory characteristic of these tumors. (PMID:22241217)
• We also identified a significant genetic association between caries of the mid- dentition tooth surfaces and AJAP1 (p value = 2e-8), a gene possibly involved in tooth development. (PMID:23064961)
• AJAP1 suppressed the expression of MAGEA2 and inhibited the transcriptional activity of MAGEA2 in glioma cells. (PMID:24481586)
• Results show that AJAP1 is dysregulated at an early stage of gliomagenesis and may suppress glioma cell invasion and proliferation, which suggests that AJAP1 may be a potential diagnostic and prognostic marker for gliomas (PMID:24483339)
• Article summarizes and discusses current knowledge that may identify AJAP1 as a tumor suppressor in gliomas. [Review] (PMID:24807315)
• Reduced Expression of Adherens Junctions Associated Protein 1 is associated with Recurrence of Hepatocellular Carcinoma After Curative Hepatectomy. (PMID:26122373)
• These findings indicate that downregulated AJAP1 transcription may serve as a novel tumor biomarker to predict recurrence of ESCC after esophagectomy. (PMID:26397940)
• EGFR/EGFRvIII remodels the cytoskeleton via epigenetic silencing of AJAP1 in glioma cells. (PMID:28634045)
• Stable overexpression of AJAP1 promotes adherence, decreases invasion of glioma cells through an extracellular-like matrix, and slows migration in the presence of laminin. These observations are reversed by gene knockdown using multiple siRNAs. Additionally, overexpression of AJAP1 decreases colony formation in glioma cells. (PMID:29115565)
• This study demonstrated that AJAP1 acted as a putative tumor suppressor while beta-catenin nuclear localization positively fed back on EGF/EGFR-attenuated AJAP1 expression in breast cancer, which might be beneficial to develop new therapeutic targets for decreasing nuclear beta-catenin-mediated malignancy in breast cancer. (PMID:31171012)
• LncRNA FGF14-AS2 represses growth of prostate carcinoma cells via modulating miR-96-5p/AJAP1 axis. (PMID:34655124)
• Based on disulfidptosis, revealing the prognostic and immunological characteristics of renal cell carcinoma with tumor thrombus of vena cava and identifying potential therapeutic target AJAP1. (PMID:37247081)
• Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. (PMID:38985877)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ajap1	ENSDARG00000038655
mus_musculus	Ajap1	ENSMUSG00000039546
rattus_norvegicus	Ajap1	ENSRNOG00000050137

Protein

Protein identifiers

Adherens junction-associated protein 1 — Q9UKB5 (reviewed: Q9UKB5)

Alternative names: Membrane protein shrew-1

All UniProt accessions (1): Q9UKB5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in cell adhesion and cell migration.

Subunit / interactions. Forms a complex with CDH1 and CTNNB1; interacts directly with CTNNB1. Interacts with AP1M2. Interacts with isoform 2 of BSG/CD147.

Subcellular location. Basolateral cell membrane. Apical cell membrane. Cell junction. Adherens junction.

Tissue specificity. Expressed in uterus and pancreas (at protein level).

Post-translational modifications. Thr-237 and Ser-239 may be phosphorylated; however as this position is probably extracellular, the in vivo relevance is not proven.

RefSeq proteins (2): NP_001035943, NP_061324* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029198	AJAP1_PANP_C	Domain
IPR039239	AJAP1	Family

Pfam: PF15298

UniProt features (22 total): mutagenesis site 8, region of interest 5, compositionally biased region 3, topological domain 2, signal peptide 1, chain 1, sequence variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UKB5-F1	50.22	0.04

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (8):

Position	Phenotype
303	predominantly localized to the apical membrane.
304	no effect on membrane localization.
350	predominantly localized to the apical membrane.
359	no effect on membrane localization.
368	predominantly localized to the apical membrane.
380	predominantly localized to the apical membrane.
396–397	predominantly localized to the apical membrane.
396	predominantly localized to the apical membrane.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 149 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_REGULATION_OF_WOUND_HEALING, GOCC_CELL_SURFACE, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, GOBP_NEGATIVE_REGULATION_OF_CELL_SUBSTRATE_ADHESION, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_WOUND_HEALING, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, GOBP_NEGATIVE_REGULATION_OF_CELL_MATRIX_ADHESION, GOBP_REGULATION_OF_RESPONSE_TO_WOUNDING, GOBP_POLARIZED_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (4): negative regulation of cell-matrix adhesion (GO:0001953), cell adhesion (GO:0007155), regulation of polarized epithelial cell differentiation (GO:0030860), negative regulation of wound healing (GO:0061045)

GO Molecular Function (4): beta-catenin binding (GO:0008013), protein domain specific binding (GO:0019904), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (9): plasma membrane (GO:0005886), adherens junction (GO:0005912), cytoplasmic side of plasma membrane (GO:0009898), cell surface (GO:0009986), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), cell-cell contact zone (GO:0044291), membrane (GO:0016020), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
binding	2
cell-cell junction	2
cellular anatomical structure	2
plasma membrane region	2
regulation of cell-matrix adhesion	1
cell-matrix adhesion	1
negative regulation of cell-substrate adhesion	1
cellular process	1
regulation of epithelial cell differentiation	1
polarized epithelial cell differentiation	1
regulation of animal organ morphogenesis	1
negative regulation of response to external stimulus	1
wound healing	1
regulation of wound healing	1
negative regulation of response to wounding	1
membrane	1
cell periphery	1
plasma membrane	1
cytoplasmic side of membrane	1
basal plasma membrane	1
apical part of cell	1
cell junction	1

Protein interactions and networks

STRING

958 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AJAP1	CDH1	P12830	953
AJAP1	BSG	P35613	929
AJAP1	PPIB	P23284	718
AJAP1	PPIA	P05092	670
AJAP1	CTNNB1	P35222	668
AJAP1	PIANP	Q8IYJ0	550
AJAP1	MARCHF11	A6NNE9	542
AJAP1	ZNF570	Q96NI8	506
AJAP1	PTPRN2	Q92932	488
AJAP1	ADARB2	Q9NS39	480
AJAP1	ZNF614	Q8N883	478
AJAP1	AP1M2	Q9Y6Q5	478
AJAP1	KPNA4	O00629	468
AJAP1	UNCX	A6NJT0	454
AJAP1	SLC16A3	O15427	453

IntAct

3 interactions, top by confidence:

A	B	Type	Score
Dlg4	AJAP1	psi-mi:“MI:0407”(direct interaction)	0.440
MYC		psi-mi:“MI:0914”(association)	0.350

BioGRID (3): CTNNB1 (Affinity Capture-Western), CDH1 (Affinity Capture-Western), AJAP1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GV85, A2ALI5, A2APT9, B0BN44, B1ARY8, B6ZI38, O14836, O35188, O55145, O60279, O60667, P07141, P09603, P0C8S2, P28906, P40225, P40226, P42705, P78423, Q06154, Q08DV9, Q13261, Q1ERP8, Q28270, Q2TB54, Q3UY90, Q4V9H3, Q4W8E7, Q5F267, Q5R770, Q60819, Q64314, Q6PAL1, Q6PCP7, Q6UXB8, Q80XI1, Q8BLK9, Q8CAE9, Q8CBC4, Q8JZQ0

Diamond homologs: A2ALI5, Q0IIY7, Q4W8E7, Q9UKB5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1830 predictions. Top by Δscore:

Variant	Effect	Δscore
1:4772278:A:AG	acceptor_gain	1.0000
1:4772278:AGCT:A	acceptor_gain	1.0000
1:4772279:G:GA	acceptor_gain	1.0000
1:4772279:GC:G	acceptor_gain	1.0000
1:4772279:GCT:G	acceptor_gain	1.0000
1:4772279:GCTG:G	acceptor_gain	1.0000
1:4772279:GCTGT:G	acceptor_gain	1.0000
1:4772496:G:GT	donor_gain	1.0000
1:4772496:G:T	donor_gain	1.0000
1:4772526:G:GG	donor_gain	1.0000
1:4655452:CAG:C	donor_loss	0.9900
1:4655453:AGG:A	donor_loss	0.9900
1:4655455:GTGAG:G	donor_loss	0.9900
1:4711897:C:G	acceptor_gain	0.9900
1:4711898:A:AG	acceptor_gain	0.9900
1:4711899:G:GA	acceptor_gain	0.9900
1:4711899:GCTCC:G	acceptor_gain	0.9900
1:4712660:G:GT	donor_gain	0.9900
1:4712660:G:T	donor_gain	0.9900
1:4769848:TCCA:T	acceptor_loss	0.9900
1:4769849:CCA:C	acceptor_loss	0.9900
1:4769851:A:AG	acceptor_gain	0.9900
1:4769851:AGGT:A	acceptor_loss	0.9900
1:4769852:G:GG	acceptor_gain	0.9900
1:4769852:GGTCT:G	acceptor_gain	0.9900
1:4769936:AATTG:A	donor_gain	0.9900
1:4769937:ATTG:A	donor_gain	0.9900
1:4769937:ATTGG:A	donor_loss	0.9900
1:4769938:TTG:T	donor_gain	0.9900
1:4769938:TTGG:T	donor_loss	0.9900

AlphaMissense

2636 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:4774481:G:C	W406C	0.999
1:4774481:G:T	W406C	0.999
1:4712419:G:C	W183C	0.998
1:4712419:G:T	W183C	0.998
1:4769898:T:A	M292K	0.998
1:4769898:T:G	M292R	0.998
1:4774479:T:A	W406R	0.998
1:4774479:T:C	W406R	0.998
1:4774482:T:C	F407L	0.998
1:4774484:T:A	F407L	0.998
1:4774484:T:G	F407L	0.998
1:4769907:C:A	A295D	0.997
1:4774477:A:T	K405I	0.997
1:4712417:T:A	W183R	0.996
1:4712417:T:C	W183R	0.996
1:4769892:T:C	L290P	0.996
1:4769934:A:T	K304I	0.996
1:4772402:T:G	F347C	0.996
1:4772430:T:G	C356W	0.996
1:4774464:T:C	F401L	0.996
1:4774466:C:A	F401L	0.996
1:4774466:C:G	F401L	0.996
1:4774483:T:G	F407C	0.996
1:4774489:T:C	I409T	0.996
1:4769886:T:A	V288D	0.995
1:4769904:T:A	I294K	0.995
1:4769910:C:A	A296D	0.995
1:4769913:T:C	L297P	0.995
1:4772401:T:C	F347L	0.995
1:4772403:C:A	F347L	0.995

dbSNP variants (sampled 300 via entrez): RS1000018816 (1:4665615 C>T), RS1000019613 (1:4698903 C>A,T), RS1000024199 (1:4727194 G>A), RS1000034773 (1:4704586 T>C), RS1000059285 (1:4772898 G>A,T), RS1000064807 (1:4772917 G>A), RS1000073800 (1:4738567 G>A), RS1000095479 (1:4773138 CT>C,CTT,CTTT), RS1000109732 (1:4773228 C>A,T), RS1000126017 (1:4723962 G>A), RS1000164370 (1:4730687 G>A,T), RS1000174443 (1:4788316 T>G), RS1000217191 (1:4689645 C>A,T), RS1000337772 (1:4661226 C>T), RS1000345048 (1:4709419 C>G)

Disease associations

OMIM: gene MIM:610972 | disease phenotypes: MIM:256100

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant

Mondo (2): nephronophthisis (MONDO:0019005), neurodevelopmental disorder (MONDO:0700092)

Orphanet (1): Nephronophthisis (Orphanet:655)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000090	Nephronophthisis

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001713_13	Dental caries	2.000000e-08
GCST002079_26	Migraine - clinic-based	3.000000e-08
GCST002361_15	Smooth-surface caries	2.000000e-06
GCST002701_10	Verbal declarative memory	3.000000e-06
GCST002701_34	Verbal declarative memory	3.000000e-07
GCST002701_9	Verbal declarative memory	2.000000e-06
GCST002928_21	Nickel levels	5.000000e-06
GCST003128_4	Adolescent idiopathic scoliosis	3.000000e-09
GCST004025_2	Systemic juvenile idiopathic arthritis	3.000000e-09
GCST004162_20	Carotid plaque burden	1.000000e-06
GCST005171_26	QT interval	3.000000e-06
GCST006186_1	Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)	2.000000e-08
GCST006195_81	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	3.000000e-09
GCST006298_1	Response to haloperidol in schizophrenia	1.000000e-07
GCST007328_38	Alcohol consumption (drinks per week)	4.000000e-10
GCST007576_229	Chronotype	1.000000e-08
GCST007637_33	Diffusing capacity of carbon monoxide	4.000000e-06
GCST008521_12	Bitter beverage consumption	3.000000e-06
GCST008757_20	Alcohol consumption	5.000000e-12
GCST009423_1	Maximum retinal venular tortuosity	2.000000e-07
GCST012295_10	Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction	8.000000e-06

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004874	memory performance
EFO:0006805	word list delayed recall measurement
EFO:0006501	carotid plaque build
EFO:0004682	QT interval
EFO:0006335	systolic blood pressure
EFO:0006527	smoking status measurement
EFO:0008328	chronotype measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0010089	bitter beverage consumption measurement
EFO:0010554	retinal vasculature measurement
EFO:0004952	disease recurrence
EFO:0008343	sex interaction 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, increases methylation	8
sodium arsenite	affects methylation, increases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
bisphenol A	affects cotreatment, affects methylation	1
trichostatin A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Am 580	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
tricetin	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
MT19c compound	decreases expression	1
Rosiglitazone	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, affects methylation	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Methamphetamine	increases expression	1
Methotrexate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	increases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

208 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