ADNP2

Summary

ADNP2 (ADNP homeobox 2, HGNC:23803) is a protein-coding gene on chromosome 18q23, encoding Activity-dependent neuroprotector homeobox protein 2 (Q6IQ32). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in nervous system development and regulation of gene expression. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 22850 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 291 total — 88 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_014913

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23803
Approved symbol	ADNP2
Name	ADNP homeobox 2
Location	18q23
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0863
Ensembl gene	ENSG00000101544
Ensembl biotype	protein_coding
OMIM	617422
Entrez	22850

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000262198, ENST00000559951, ENST00000560561, ENST00000560752, ENST00000561195, ENST00000929371, ENST00000929372, ENST00000929373, ENST00000929374

RefSeq mRNA: 1 — MANE Select: NM_014913 NM_014913

CCDS: CCDS32853

Canonical transcript exons

ENST00000262198 — 4 exons

Exon	Start	End
ENSE00001273396	80109262	80109472
ENSE00001273418	80117530	80117650
ENSE00001305079	80135612	80140346
ENSE00002936676	80133103	80133192

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 95.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5442 / max 100.8374, expressed in 1755 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170924	7.6331	1737
170923	0.8790	614
170925	0.8336	494
208616	0.1986	77

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	95.23	gold quality
cauda epididymis	UBERON:0004360	92.59	gold quality
corpus epididymis	UBERON:0004359	92.28	gold quality
caput epididymis	UBERON:0004358	91.73	gold quality
nipple	UBERON:0002030	90.88	gold quality
buccal mucosa cell	CL:0002336	90.59	gold quality
pigmented layer of retina	UBERON:0001782	90.31	gold quality
retina	UBERON:0000966	90.28	gold quality
cartilage tissue	UBERON:0002418	90.01	gold quality
amniotic fluid	UBERON:0000173	89.88	gold quality
oocyte	CL:0000023	89.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.22	gold quality
esophagus squamous epithelium	UBERON:0006920	87.91	gold quality
upper leg skin	UBERON:0004262	87.49	gold quality
hair follicle	UBERON:0002073	87.17	silver quality
cranial nerve II	UBERON:0000941	86.76	gold quality
jejunal mucosa	UBERON:0000399	86.64	gold quality
epithelium of esophagus	UBERON:0001976	86.55	gold quality
eye	UBERON:0000970	86.31	gold quality
oral cavity	UBERON:0000167	86.28	gold quality
squamous epithelium	UBERON:0006914	85.89	gold quality
right testis	UBERON:0004534	85.80	gold quality
embryo	UBERON:0000922	85.71	gold quality
testis	UBERON:0000473	85.47	gold quality
tibia	UBERON:0000979	85.36	gold quality
penis	UBERON:0000989	85.26	gold quality
tongue squamous epithelium	UBERON:0006919	85.23	silver quality
choroid plexus epithelium	UBERON:0003911	85.22	gold quality
epithelium of mammary gland	UBERON:0003244	85.14	gold quality
palpebral conjunctiva	UBERON:0001812	85.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.42
E-GEOD-36552	no	273.96

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
HBB

miRNA regulators (miRDB)

77 targeting ADNP2, 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-4668-3P	100.00	68.74	2635
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-1200	99.71	70.42	1838

Literature-anchored findings (GeneRIF, showing 2)

• In the prefrontal cortex of schizophrenia patients the correlation between ADNP and ADNP2 mRNA levels was apparently higher than in the hippocampus (r=0.854, p<0.001), but did not reach a significant difference (p=0.25). (PMID:20598862)
• This study showed ADNP2 that deregulated in postmortem hippocampal samples from schizophrenia patients, but that now showed a significantly increased expression in lymphocytes from related patients. (PMID:24365867)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	adnp2b	ENSDARG00000028431
danio_rerio	adnp2a	ENSDARG00000060937
mus_musculus	Adnp2	ENSMUSG00000053950
rattus_norvegicus	Adnp2	ENSRNOG00000053370
rattus_norvegicus	Adnp2l1	ENSRNOG00000053843

Paralogs (1): ADNP (ENSG00000101126)

Protein

Protein identifiers

Activity-dependent neuroprotector homeobox protein 2 — Q6IQ32 (reviewed: Q6IQ32)

Alternative names: Zinc finger protein 508

All UniProt accessions (5): Q6IQ32, H0YLN6, H0YM09, K7EPG1, K7ERT3

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation. May play a role in neuronal function; perhaps involved in protection of brain tissues from oxidative stress. May be involved in erythroid differentiation.

Subunit / interactions. May interact with SMARCA4/BRG1.

Subcellular location. Nucleus.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

RefSeq proteins (1): NP_055728* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR038861	ADNP/ADNP2	Family
IPR045762	ADNP_Znf	Domain

Pfam: PF19627

UniProt features (21 total): zinc finger region 9, cross-link 6, chain 1, DNA-binding region 1, region of interest 1, compositionally biased region 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IQ32-F1	58.42	0.08

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): 1024, 118, 146, 979, 1018, 1032, 1032

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9940465	ChAHP complex assembly

MSigDB gene sets: 145 (showing top): GGGTGGRR_PAX4_03, PUJANA_CHEK2_PCC_NETWORK, GTGCCTT_MIR506, MODULE_331, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, OCT1_06, MODULE_123, CREB_Q2_01, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_98, OCT1_B, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, CREBP1CJUN_01, OSMAN_BLADDER_CANCER_DN

GO Biological Process (3): nervous system development (GO:0007399), regulation of gene expression (GO:0010468), regulation of transcription by RNA polymerase II (GO:0006357)

GO Molecular Function (5): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
CHD3, CHD4, CHD5 subfamily	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
system development	1
gene expression	1
regulation of macromolecule biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ADNP2	ZNF407	Q9C0G0	528
ADNP2	RRP36	Q96EU6	516
ADNP2	SLC66A2	Q8N2U9	487
ADNP2	PARD6G	Q9BYG4	460
ADNP2	ABCF3	Q9NUQ8	458
ADNP2	ZNF280C	Q8ND82	456
ADNP2	CCDC70	Q6NSX1	445
ADNP2	PLAGL2	Q9UPG8	431
ADNP2	KCNG2	Q9UJ96	431
ADNP2	AHCTF1	Q8WYP5	424
ADNP2	TMPO	P08918	420
ADNP2	MAP6	Q96JE9	395
ADNP2	CCNC	P24863	393
ADNP2	SMARCE1	Q969G3	390
ADNP2	Q3MI93	Q3MI93	378
ADNP2	MPHOSPH8	Q99549	378

IntAct

39 interactions, top by confidence:

A	B	Type	Score
ADNP2	CBX1	psi-mi:“MI:0915”(physical association)	0.820
CBX3	ADNP2	psi-mi:“MI:0915”(physical association)	0.810
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
CBX1	ZNF292	psi-mi:“MI:0914”(association)	0.530
CBX1	KPNA3	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
Kif1c	ABLIM1	psi-mi:“MI:0914”(association)	0.350
Cbx1		psi-mi:“MI:0914”(association)	0.350
Cobll1	ABLIM1	psi-mi:“MI:0914”(association)	0.350
ITPKB	PDE4A	psi-mi:“MI:0914”(association)	0.350
MYEF2	PRMT5	psi-mi:“MI:0914”(association)	0.350
Ppp2r5c	ELL2	psi-mi:“MI:0914”(association)	0.350
Ppp2r2d	KLF4	psi-mi:“MI:0914”(association)	0.350
CBX1	EXOC5	psi-mi:“MI:0914”(association)	0.350
NCKAP1	ENAH	psi-mi:“MI:0914”(association)	0.350
MAD2L1	MED19	psi-mi:“MI:0914”(association)	0.350
PIPSL	C1orf226	psi-mi:“MI:0914”(association)	0.350
FTL	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
PRPS2	SMCHD1	psi-mi:“MI:0914”(association)	0.350
CBX3	ZNF324	psi-mi:“MI:0914”(association)	0.350
ADNP2	GLI4	psi-mi:“MI:0914”(association)	0.350
CBX3	MYL12B	psi-mi:“MI:0914”(association)	0.350
SOX7	NFIB	psi-mi:“MI:2364”(proximity)	0.270
SRF	ZNF292	psi-mi:“MI:2364”(proximity)	0.270
ZMYM2	ZBTB5	psi-mi:“MI:2364”(proximity)	0.270
ZMYM2	TRIM24	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (82): ADNP2 (Affinity Capture-RNA), ADNP2 (Affinity Capture-RNA), ADNP2 (Affinity Capture-RNA), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-MS), ADNP2 (Affinity Capture-RNA), ADNP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8H0H2, A0JN51, A0JNE3, A4IFD2, A4QP16, D4A4D7, F8VPJ6, O13186, O15060, O46567, O57415, O73590, P13056, P59759, P79269, P79686, Q14188, Q1LVF3, Q2T9I9, Q3UH06, Q505F1, Q5HZN1, Q5R7F2, Q5RCZ5, Q5ZIX8, Q6DJS0, Q6IQ32, Q6IRB8, Q6P4L9, Q6P4R8, Q6PIJ4, Q6S7F2, Q6XLJ0, Q6ZPK0, Q7ZXG4, Q80VX4, Q8AYC1, Q8AYC2, Q8C0C0, Q8C966

Diamond homologs: F1QLG5, Q6IQ32, Q9H2P0, Q9JKL8, Q9Z103, Q8CHC8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	88
Likely pathogenic	3
Uncertain significance	171
Likely benign	22
Benign	0

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
144196	GRCh38/hg38 18q23(chr18:77263709-80252149)x1	Pathogenic
144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	Pathogenic
144342	GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	Pathogenic
146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	Pathogenic
146226	GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	Pathogenic
146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	Pathogenic
146547	GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	Pathogenic
146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	Pathogenic
146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	Pathogenic
147397	GRCh38/hg38 18q23(chr18:79922576-80252149)x1	Pathogenic
147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	Pathogenic
147608	GRCh38/hg38 18q23(chr18:75424051-80224243)x1	Pathogenic
147749	GRCh38/hg38 18q23(chr18:75988877-80252149)x1	Pathogenic
147763	GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	Pathogenic
148304	GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	Pathogenic
148742	GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	Pathogenic
149650	GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	Pathogenic
149756	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	Pathogenic
149757	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	Pathogenic
150633	GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	Pathogenic
150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	Pathogenic
150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	Pathogenic
152338	GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	Pathogenic
1526630	GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)	Pathogenic
1526643	GRCh37/hg19 18q22.3-23(chr18:70333866-78014123)	Pathogenic
154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	Pathogenic
154513	GRCh38/hg38 18q23(chr18:76635470-80252149)x1	Pathogenic
154622	GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	Pathogenic
155129	GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	Pathogenic
155490	GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	Pathogenic

SpliceAI

878 predictions. Top by Δscore:

Variant	Effect	Δscore
18:80109470:GCG:G	donor_gain	1.0000
18:80117524:TTTAA:T	acceptor_loss	1.0000
18:80117525:TTAA:T	acceptor_loss	1.0000
18:80117526:TAAGG:T	acceptor_loss	1.0000
18:80117527:A:AG	acceptor_gain	1.0000
18:80117527:AAG:A	acceptor_gain	1.0000
18:80117528:A:AC	acceptor_loss	1.0000
18:80117528:A:AG	acceptor_gain	1.0000
18:80117529:G:GG	acceptor_gain	1.0000
18:80117529:GGA:G	acceptor_gain	1.0000
18:80117529:GGAA:G	acceptor_gain	1.0000
18:80117529:GGAAA:G	acceptor_gain	1.0000
18:80133098:A:AG	acceptor_gain	1.0000
18:80133098:AAAAG:A	acceptor_gain	1.0000
18:80133099:A:G	acceptor_gain	1.0000
18:80133102:G:C	acceptor_loss	1.0000
18:80133189:AGTGG:A	donor_loss	1.0000
18:80133190:GTG:G	donor_gain	1.0000
18:80133192:GGTA:G	donor_loss	1.0000
18:80133193:G:A	donor_loss	1.0000
18:80133193:G:GG	donor_gain	1.0000
18:80133194:T:G	donor_loss	1.0000
18:80135611:GA:G	acceptor_gain	1.0000
18:80135611:GAGAT:G	acceptor_gain	1.0000
18:80109473:G:GG	donor_gain	0.9900
18:80117528:AG:A	acceptor_gain	0.9900
18:80117529:G:A	acceptor_gain	0.9900
18:80117598:TGA:T	donor_gain	0.9900
18:80117600:AAAG:A	donor_gain	0.9900
18:80117657:GGAC:G	donor_gain	0.9900

AlphaMissense

7373 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:80135882:T:C	C157R	1.000
18:80135884:T:G	C157W	1.000
18:80135891:T:A	C160S	1.000
18:80135891:T:C	C160R	1.000
18:80135892:G:C	C160S	1.000
18:80135926:G:C	K171N	1.000
18:80135926:G:T	K171N	1.000
18:80135937:T:C	L175P	1.000
18:80136062:T:C	C217R	1.000
18:80136153:T:C	L247P	1.000
18:80137490:T:A	W693R	1.000
18:80137490:T:C	W693R	1.000
18:80137492:G:C	W693C	1.000
18:80137492:G:T	W693C	1.000
18:80137499:T:C	C696R	1.000
18:80135735:T:C	C108R	0.999
18:80135876:T:C	F155L	0.999
18:80135878:C:A	F155L	0.999
18:80135878:C:G	F155L	0.999
18:80135882:T:A	C157S	0.999
18:80135883:G:A	C157Y	0.999
18:80135883:G:C	C157S	0.999
18:80135892:G:A	C160Y	0.999
18:80135892:G:T	C160F	0.999
18:80135893:T:G	C160W	0.999
18:80135930:C:A	H173N	0.999
18:80135930:C:G	H173D	0.999
18:80135931:A:C	H173P	0.999
18:80135931:A:G	H173R	0.999
18:80135932:T:A	H173Q	0.999

dbSNP variants (sampled 300 via entrez): RS1000057194 (18:80139139 A>G), RS1000108639 (18:80129111 T>TG), RS1000191065 (18:80114705 A>C,G), RS1000254383 (18:80123495 C>T), RS1000329905 (18:80112428 C>T), RS1000338306 (18:80134513 A>G), RS1000733305 (18:80110240 C>T), RS1000951259 (18:80140591 G>A), RS1000953477 (18:80116019 C>T), RS1001070164 (18:80113653 C>T), RS1001192103 (18:80122007 C>T), RS1001246846 (18:80116181 A>G), RS1001429184 (18:80133455 A>G,T), RS1001502780 (18:80139768 G>C), RS1001556771 (18:80139551 C>T)

Disease associations

OMIM: gene MIM:617422 | disease phenotypes: MIM:601808, MIM:608572, MIM:193250

GenCC curated gene-disease

Mondo (4): chromosome 18q deletion syndrome (MONDO:0011147), choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (MONDO:0012064), volvulus of midgut (MONDO:0008666), neurodevelopmental disorder (MONDO:0700092)

Orphanet (5): Monosomy 18q syndrome (Orphanet:1600), Burn-McKeown syndrome (Orphanet:1200), OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome (Orphanet:2454), Familial intestinal malrotation (Orphanet:508410), Partial deletion of the long arm of chromosome 18 syndrome (Orphanet:262146)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625
C536580	Chromosome 18 deletion syndrome (supp.)
C563682	Oculootofacial Dysplasia (supp.)
C562456	Volvulus Of Midgut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	3
Cadmium Chloride	increases expression	3
sodium arsenite	decreases expression, increases abundance, increases expression	2
Smoke	decreases expression, increases abundance	2
Valproic Acid	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
testosterone enanthate	affects expression	1
beta-lapachone	increases expression	1
beta-methylcholine	affects expression	1
tamibarotene	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
PCI 5002	affects cotreatment, increases expression	1
Leflunomide	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	decreases expression, increases abundance	1
Catechin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dinitrochlorobenzene	affects binding	1
Formaldehyde	decreases expression	1
Lithium	increases expression	1
Phenylmercuric Acetate	decreases expression, affects cotreatment	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

203 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
NCT03356314	Not specified	COMPLETED	Prenatal Ultrasound Screening of Intestinal Malrotation With a Higher Risk of Volvulus
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