RFX4

Summary

RFX4 (regulatory factor X4, HGNC:9985) is a protein-coding gene on chromosome 12q23.3, encoding Transcription factor RFX4 (Q33E94). Transcription factor that plays a role in early brain development.

This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5992 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Strong, GenCC)
• GWAS associations: 14
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_213594

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9985
Approved symbol	RFX4
Name	regulatory factor X4
Location	12q23.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000111783
Ensembl biotype	protein_coding
OMIM	603958
Entrez	5992

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000229387, ENST00000357881, ENST00000392842, ENST00000536688, ENST00000536722, ENST00000539967, ENST00000546882, ENST00000549040, ENST00000551640, ENST00000552773, ENST00000552866, ENST00000552917, ENST00000959768, ENST00000959769

RefSeq mRNA: 3 — MANE Select: NM_213594 NM_001206691, NM_032491, NM_213594

CCDS: CCDS55880, CCDS9106, CCDS9108

Canonical transcript exons

ENST00000392842 — 18 exons

Exon	Start	End
ENSE00000923084	106747437	106747599
ENSE00000923085	106750655	106750793
ENSE00001341551	106732924	106733085
ENSE00001411786	106583004	106583363
ENSE00001552602	106761197	106762803
ENSE00003482731	106689287	106689364
ENSE00003492332	106686884	106687097
ENSE00003539963	106681993	106682054
ENSE00003548145	106608797	106608883
ENSE00003570684	106711453	106711511
ENSE00003574017	106732130	106732249
ENSE00003576478	106639332	106639392
ENSE00003603063	106719960	106720054
ENSE00003655305	106720759	106720876
ENSE00003659729	106696283	106696446
ENSE00003667354	106654228	106654351
ENSE00003788558	106709330	106709430
ENSE00003790735	106715400	106715544

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 96.93.

FANTOM5 (CAGE): breadth broad, TPM avg 8.5006 / max 542.7415, expressed in 256 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127829	3.9833	230
127828	3.2158	222
127827	0.5139	127
127832	0.4502	8
127830	0.3135	147
127831	0.0205	5
127833	0.0033	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult organism	UBERON:0007023	96.93	gold quality
left testis	UBERON:0004533	93.91	gold quality
right testis	UBERON:0004534	93.71	gold quality
lateral globus pallidus	UBERON:0002476	92.76	gold quality
ventricular zone	UBERON:0003053	91.98	gold quality
testis	UBERON:0000473	90.81	gold quality
globus pallidus	UBERON:0001875	89.56	gold quality
medial globus pallidus	UBERON:0002477	88.99	gold quality
sperm	CL:0000019	87.27	gold quality
caudate nucleus	UBERON:0001873	86.82	gold quality
amygdala	UBERON:0001876	85.54	gold quality
nucleus accumbens	UBERON:0001882	84.82	gold quality
superior vestibular nucleus	UBERON:0007227	84.17	gold quality
male germ cell	CL:0000015	84.10	gold quality
ganglionic eminence	UBERON:0004023	83.76	gold quality
substantia nigra pars reticulata	UBERON:0001966	83.44	gold quality
putamen	UBERON:0001874	83.34	gold quality
temporal lobe	UBERON:0001871	83.07	gold quality
substantia nigra pars compacta	UBERON:0001965	82.92	gold quality
buccal mucosa cell	CL:0002336	82.90	silver quality
corpus callosum	UBERON:0002336	81.83	gold quality
entorhinal cortex	UBERON:0002728	81.83	gold quality
spinal cord	UBERON:0002240	81.53	gold quality
Ammon’s horn	UBERON:0001954	81.51	gold quality
right frontal lobe	UBERON:0002810	81.42	gold quality
substantia nigra	UBERON:0002038	81.28	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.92	gold quality
midbrain	UBERON:0001891	80.83	gold quality
telencephalon	UBERON:0001893	80.09	gold quality
forebrain	UBERON:0001890	79.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	876.07
E-HCAD-35	yes	81.91
E-HCAD-25	yes	24.43
E-GEOD-84465	yes	22.39
E-ANND-3	yes	7.50

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
CX3CL1
ESR1	Unknown
H1-6
IFT172	Activation
TFF1	Activation

JASPAR motifs

Motif	Name	Family
MA0799.1	RFX4	RFX-related factors
MA0799.2	RFX4	RFX-related factors
MA0799.3	RFX4	RFX-related factors

JASPAR matrix evidence (PMIDs): PMID:8754849

miRNA regulators (miRDB)

70 targeting RFX4, 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-126-5P	100.00	72.71	3180
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-369-3P	99.85	70.52	2264
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909

Literature-anchored findings (GeneRIF, showing 4)

• The gene encoding the transcription factor RFX4 represents an excellent neurobiological and positional candidate gene for Bipolar disorder due to the potential involvement of RFX4 proteins in the regulation of circadian rhythms, linked to chromosome 12. (PMID:15940297)
• GPS2 interacts with RFX4_v3 to modulate transactivation of genes involved in brain morphogenesis, including Cx3Cl1 (PMID:18218630)
• High expression of RFX4 is associated with tumor progression and poor prognosis in patients with glioblastoma. (PMID:32075484)
• RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1. (PMID:38386071)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rfx4	ENSDARG00000026395
mus_musculus	Rfx4	ENSMUSG00000020037
rattus_norvegicus	Rfx4	ENSRNOG00000051536
caenorhabditis_elegans		WBGENE00000914

Paralogs (7): RFX3 (ENSG00000080298), RFX2 (ENSG00000087903), RFX1 (ENSG00000132005), RFX5 (ENSG00000143390), RFX7 (ENSG00000181827), RFX6 (ENSG00000185002), RFX8 (ENSG00000196460)

Protein

Protein identifiers

Transcription factor RFX4 — Q33E94 (reviewed: Q33E94)

Alternative names: Regulatory factor X 4, Testis development protein NYD-SP10

All UniProt accessions (7): Q33E94, B4DZB7, F8VRD4, F8VX50, F8VZC4, F8W1T9, R4GMS3

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development. May be required for neural tube ciliogenesis during embryogenesis.

Subunit / interactions. Homodimer. Heterodimer with RFX2 and RFX3. Interacts with GPS2.

Subcellular location. Nucleus.

Tissue specificity. Isoform 1: Expressed in brain and gliomas (at protein level). Isoform 2: Testis-specific (at protein level). Isoform 3: Testis-specific (at protein level). Isoform 3: Expressed at a higher level in adult testes and ejaculated spermatozoa than in fetal testes. Isoform 4: Testis-specific.

Similarity. Belongs to the RFX family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q33E94-1	1, RFX4-D, RFX4_v3	yes
Q33E94-2	2, RFX4-C, RFX4_v4
Q33E94-3	3, RFX4-A, RFX4_v1
Q33E94-4	4

RefSeq proteins (3): NP_001193620, NP_115880, NP_998759* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003150	DNA-bd_RFX	Domain
IPR036388	WH-like_DNA-bd_sf	Homologous_superfamily
IPR036390	WH_DNA-bd_sf	Homologous_superfamily
IPR039779	RFX-like	Family
IPR057321	RFX1-4/6/8-like_BCD	Domain

Pfam: PF02257, PF25340

UniProt features (19 total): splice variant 5, sequence conflict 5, region of interest 3, DNA-binding region 2, sequence variant 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q33E94-F1	66.73	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): AAGCAAT_MIR137, TAATAAT_MIR126, BENPORATH_ES_WITH_H3K27ME3, LFA1_Q6, TTTGTAG_MIR520D, TATTATA_MIR374, MEF2_02, EFC_Q6, GOBP_FOREBRAIN_DEVELOPMENT, EVI1_05, GTGCCTT_MIR506, IRF7_01, GOBP_PROTEIN_MATURATION, MYCMAX_01, BLALOCK_ALZHEIMERS_DISEASE_UP

GO Biological Process (8): regulation of transcription by RNA polymerase II (GO:0006357), spinal cord dorsal/ventral patterning (GO:0021513), telencephalon development (GO:0021537), negative regulation of smoothened signaling pathway (GO:0045879), positive regulation of transcription by RNA polymerase II (GO:0045944), cilium assembly (GO:0060271), regulation of protein processing (GO:0070613), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
dorsal/ventral pattern formation	1
spinal cord patterning	1
forebrain development	1
anatomical structure development	1
smoothened signaling pathway	1
regulation of smoothened signaling pathway	1
negative regulation of signal transduction	1
positive regulation of DNA-templated transcription	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
protein processing	1
regulation of proteolysis	1
regulation of protein maturation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
binding	1
chromosome	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1048 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RFX4	SS18L1	O75177	588
RFX4	DTX2	Q86UW9	549
RFX4	RFX7	Q2KHR2	533
RFX4	CCNK	O75909	525
RFX4	GMNC	A6NCL1	520
RFX4	PLAGL1	Q9UM63	472
RFX4	FOXJ1	Q92949	460
RFX4	IFT172	Q9UG01	451
RFX4	IFT88	Q13099	436
RFX4	MAB21L3	Q8N8X9	433
RFX4	NEUROG3	Q9Y4Z2	425
RFX4	POU3F2	P20265	401
RFX4	PKNOX2	Q96KN3	396
RFX4	LMX1A	Q8TE12	388
RFX4	MCIDAS	D6RGH6	388

IntAct

16 interactions, top by confidence:

A	B	Type	Score
RFX4	tax	psi-mi:“MI:0915”(physical association)	0.560
tax	RFX4	psi-mi:“MI:0915”(physical association)	0.560
	RFX4	psi-mi:“MI:0915”(physical association)	0.370
CCL24	RFX4	psi-mi:“MI:0915”(physical association)	0.370
CCL3L1	RFX4	psi-mi:“MI:0915”(physical association)	0.370
IFNA16	RFX4	psi-mi:“MI:0915”(physical association)	0.370
IFNA17	RFX4	psi-mi:“MI:0915”(physical association)	0.370
IFNA8	RFX4	psi-mi:“MI:0915”(physical association)	0.370
IFNL4	RFX4	psi-mi:“MI:0915”(physical association)	0.370
IL3	RFX4	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (4): RFX4 (Synthetic Lethality), RFX2 (Affinity Capture-Western), RFX3 (Affinity Capture-Western), RFX4 (Affinity Capture-Western)

ESM2 similar proteins: A0A1L8GWK2, A0A571BF63, A0JMA8, A0JNE3, A2BGA0, A4IIG7, O00443, P13056, P24781, P28701, P28705, P43354, P45448, P48443, P51128, P51129, Q04913, Q06219, Q07917, Q08E53, Q09555, Q0GFF6, Q0IHW3, Q0VC20, Q1LVF3, Q26622, Q33E94, Q505F1, Q5BJR8, Q5FWP2, Q5R5Y4, Q5RAY1, Q5RCZ5, Q5REL6, Q5RJH6, Q61194, Q64287, Q68F67, Q6DHP9, Q7TNK1

Diamond homologs: A0A1L8GWK2, A0A1L8H0H2, A0JMF8, A2BGA0, A6QLW9, B1WAV2, B2GV50, D2HNW6, F8VPJ6, P22670, P48377, P48378, P48379, P48380, P48381, P48382, P48743, Q09555, Q0V9K5, Q2KHR2, Q32NR3, Q33E94, Q4R3I8, Q4R3Z4, Q59V88, Q5EAP5, Q5RDR2, Q5RJA1, Q7TNK1, Q8C7R7, Q8HWS3, Q9JL61, D3YU81, P48383, Q6ZV50, Q5AMQ6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RFX4	“up-regulates quantity by expression”	IFT172	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2438 predictions. Top by Δscore:

Variant	Effect	Δscore
12:106608884:G:GG	donor_gain	1.0000
12:106639326:TAACA:T	acceptor_loss	1.0000
12:106639327:AACAG:A	acceptor_loss	1.0000
12:106639328:ACAG:A	acceptor_loss	1.0000
12:106639329:CAG:C	acceptor_loss	1.0000
12:106639330:A:AG	acceptor_gain	1.0000
12:106639330:AGA:A	acceptor_loss	1.0000
12:106639331:G:A	acceptor_loss	1.0000
12:106639331:G:GG	acceptor_gain	1.0000
12:106639331:GAT:G	acceptor_gain	1.0000
12:106639390:ATG:A	donor_gain	1.0000
12:106639390:ATGGT:A	donor_loss	1.0000
12:106639391:TGG:T	donor_loss	1.0000
12:106639392:GGTA:G	donor_loss	1.0000
12:106639393:G:GG	donor_gain	1.0000
12:106639393:G:T	donor_loss	1.0000
12:106639394:T:A	donor_loss	1.0000
12:106654222:CCCTA:C	acceptor_loss	1.0000
12:106654224:CTA:C	acceptor_loss	1.0000
12:106654225:TAG:T	acceptor_loss	1.0000
12:106654226:A:AG	acceptor_gain	1.0000
12:106654226:AG:A	acceptor_gain	1.0000
12:106654226:AGGCT:A	acceptor_gain	1.0000
12:106654227:G:GC	acceptor_loss	1.0000
12:106654227:G:GG	acceptor_gain	1.0000
12:106654227:GG:G	acceptor_gain	1.0000
12:106654227:GGCT:G	acceptor_gain	1.0000
12:106654227:GGCTG:G	acceptor_gain	1.0000
12:106654347:GAAAG:G	donor_gain	1.0000
12:106654349:AAGG:A	donor_loss	1.0000

AlphaMissense

4838 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:106639386:T:C	L62P	1.000
12:106639391:T:A	W64R	1.000
12:106639391:T:C	W64R	1.000
12:106639392:G:C	W64S	1.000
12:106654228:G:C	W64C	1.000
12:106654228:G:T	W64C	1.000
12:106654230:T:A	L65Q	1.000
12:106654230:T:C	L65P	1.000
12:106654230:T:G	L65R	1.000
12:106654241:T:A	Y69N	1.000
12:106654241:T:C	Y69H	1.000
12:106654241:T:G	Y69D	1.000
12:106654250:G:C	A72P	1.000
12:106654256:G:A	G74R	1.000
12:106654256:G:C	G74R	1.000
12:106654260:T:A	V75D	1.000
12:106654262:T:C	C76R	1.000
12:106654263:G:A	C76Y	1.000
12:106654264:C:G	C76W	1.000
12:106654266:T:A	I77N	1.000
12:106654269:C:A	P78H	1.000
12:106654271:C:A	R79S	1.000
12:106654271:C:G	R79G	1.000
12:106654271:C:T	R79C	1.000
12:106654272:G:A	R79H	1.000
12:106654272:G:C	R79P	1.000
12:106654272:G:T	R79L	1.000
12:106654281:T:A	L82H	1.000
12:106654281:T:C	L82P	1.000
12:106654281:T:G	L82R	1.000

dbSNP variants (sampled 300 via entrez): RS1000002186 (12:106594649 A>G), RS1000009760 (12:106746935 A>G,T), RS1000011110 (12:106599823 T>A), RS1000018435 (12:106700545 T>A), RS1000034121 (12:106611782 A>G), RS1000037900 (12:106654002 A>T), RS1000048989 (12:106690386 T>C), RS1000054100 (12:106638410 C>A,G,T), RS1000055388 (12:106696483 T>G), RS1000075726 (12:106754491 C>T), RS1000079889 (12:106587290 C>A,T), RS1000124544 (12:106697738 CTG>C,CTGTG), RS1000164103 (12:106740602 C>G,T), RS1000165238 (12:106644937 C>T), RS1000173117 (12:106717095 T>C)

Disease associations

OMIM: gene MIM:603958 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Strong	Autosomal dominant

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

14 associations (top):

Study	Trait	p-value
GCST000098_5	Cognitive test performance	3.000000e-06
GCST001969_20	Heart rate	2.000000e-09
GCST002408_11	Response to methotrexate in juvenile idiopathic arthritis	4.000000e-06
GCST003542_94	Night sleep phenotypes	5.000000e-06
GCST004237_23	Triglyceride levels	2.000000e-07
GCST007565_18	Morning person	2.000000e-14
GCST007576_64	Chronotype	2.000000e-14
GCST010396_92	Gut microbiota (bacterial taxa, hurdle binary method)	1.000000e-06
GCST010703_94	Brain morphology (MOSTest)	6.000000e-52
GCST90020024_235	A body shape index	1.000000e-09
GCST90020025_97	Waist-to-hip ratio adjusted for BMI	2.000000e-10
GCST90020025_99	Waist-to-hip ratio adjusted for BMI	1.000000e-14
GCST90020027_1677	Waist-hip index	2.000000e-10
GCST90020027_1679	Waist-hip index	3.000000e-14

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0004530	triglyceride measurement
EFO:0008328	chronotype measurement
EFO:0007874	gut microbiome measurement
EFO:0004346	neuroimaging measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

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

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases expression, increases methylation	4
trichostatin A	affects cotreatment, increases expression	3
Benzo(a)pyrene	affects methylation, decreases methylation, increases mutagenesis	3
methylmercuric chloride	decreases expression, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
decabromobiphenyl ether	decreases expression	1
terbufos	increases methylation	1
sodium arsenite	affects methylation	1
tetrabromobisphenol A	decreases expression	1
cupric oxide	increases phosphorylation	1
tetrachlorodian	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Acetaminophen	decreases expression	1
Diethylhexyl Phthalate	decreases expression	1
Fonofos	increases methylation	1
Parathion	increases methylation	1
Silver	decreases expression	1
Dronabinol	increases 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