ZBTB40

Summary

ZBTB40 (zinc finger and BTB domain containing 40, HGNC:29045) is a protein-coding gene on chromosome 1p36.12, encoding Zinc finger and BTB domain-containing protein 40 (Q9NUA8). May be involved in transcriptional regulation.

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in DNA damage response. Located in nucleus.

Source: NCBI Gene 9923 — RefSeq curated summary.

At a glance

• Gene–disease (curated): neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 29
• Clinical variants (ClinVar): 187 total
• Druggable target: yes
• MANE Select transcript: NM_014870

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29045
Approved symbol	ZBTB40
Name	zinc finger and BTB domain containing 40
Location	1p36.12
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0478, ZNF923
Ensembl gene	ENSG00000184677
Ensembl biotype	protein_coding
OMIM	612106
Entrez	9923

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 13 protein_coding

ENST00000374651, ENST00000375647, ENST00000400239, ENST00000404138, ENST00000650433, ENST00000852018, ENST00000852019, ENST00000852020, ENST00000925700, ENST00000925701, ENST00000925702, ENST00000925703, ENST00000966439

RefSeq mRNA: 3 — MANE Select: NM_014870 NM_001083621, NM_001330398, NM_014870

CCDS: CCDS224, CCDS81278

Canonical transcript exons

ENST00000375647 — 18 exons

Exon	Start	End
ENSE00001464145	22489880	22490645
ENSE00001542132	22451851	22452004
ENSE00001595635	22508001	22508137
ENSE00001601175	22520061	22520275
ENSE00001629626	22508530	22508731
ENSE00001658765	22511179	22511347
ENSE00001671718	22502299	22502441
ENSE00001678525	22501492	22501684
ENSE00001701718	22512924	22513130
ENSE00001702304	22517300	22517464
ENSE00001714762	22511676	22512134
ENSE00001730193	22522377	22522463
ENSE00001740531	22524218	22524444
ENSE00001742203	22521496	22521658
ENSE00001759014	22509100	22509233
ENSE00001936272	22526202	22531154
ENSE00002153239	22491400	22491533
ENSE00003790237	22506049	22506241

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 90.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4317 / max 128.4089, expressed in 1786 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1282	12.1914	1785
1281	0.2403	151

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	90.99	gold quality
cervix squamous epithelium	UBERON:0006922	89.05	silver quality
tibia	UBERON:0000979	87.77	gold quality
right coronary artery	UBERON:0001625	87.74	gold quality
blood vessel layer	UBERON:0004797	87.28	gold quality
granulocyte	CL:0000094	87.23	gold quality
sperm	CL:0000019	86.16	gold quality
endothelial cell	CL:0000115	86.06	silver quality
sural nerve	UBERON:0015488	85.96	gold quality
inferior olivary complex	UBERON:0002127	85.90	gold quality
cardia of stomach	UBERON:0001162	85.83	gold quality
male germ cell	CL:0000015	85.61	gold quality
right adrenal gland cortex	UBERON:0035827	85.36	gold quality
right adrenal gland	UBERON:0001233	85.32	gold quality
mucosa of stomach	UBERON:0001199	85.14	gold quality
saphenous vein	UBERON:0007318	84.87	gold quality
adrenal tissue	UBERON:0018303	84.67	gold quality
coronary artery	UBERON:0001621	84.30	gold quality
adrenal cortex	UBERON:0001235	84.28	gold quality
left adrenal gland	UBERON:0001234	84.19	gold quality
adrenal gland	UBERON:0002369	84.16	gold quality
epithelium of nasopharynx	UBERON:0001951	84.13	gold quality
visceral pleura	UBERON:0002401	84.12	gold quality
pancreatic ductal cell	CL:0002079	84.11	silver quality
descending thoracic aorta	UBERON:0002345	84.02	gold quality
left coronary artery	UBERON:0001626	83.84	gold quality
left adrenal gland cortex	UBERON:0035825	83.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.59	gold quality
lymph node	UBERON:0000029	83.55	gold quality
thoracic aorta	UBERON:0001515	83.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.78

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA2488.1	ZBTB40	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:39605530

miRNA regulators (miRDB)

122 targeting ZBTB40, 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-4533	100.00	69.48	2758
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4671-3P	99.88	72.46	1045
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-6079	99.84	68.54	1170
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-3660	99.68	67.33	1149
HSA-MIR-4526	99.68	67.07	1136
HSA-MIR-5093	99.67	69.26	2291

Literature-anchored findings (GeneRIF, showing 3)

• Opposite associations of osteoprotegerin and ZBTB40 polymorphisms with bone mineral density of the hip in postmenopausal Taiwanese women. (PMID:22824048)
• Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases. (PMID:36680554)
• ZBTB40 is a telomere-associated protein and protects telomeres in human ALT cells. (PMID:37454741)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb40	ENSDARG00000091762
mus_musculus	Zbtb40	ENSMUSG00000060862
rattus_norvegicus	Zbtb40	ENSRNOG00000022039
drosophila_melanogaster	CG15336	FBGN0030009
drosophila_melanogaster	CG44002	FBGN0264744

Protein

Protein identifiers

Zinc finger and BTB domain-containing protein 40 — Q9NUA8 (reviewed: Q9NUA8)

All UniProt accessions (4): Q9NUA8, A0A3B3IRZ6, B1AKC8, F8WAI8

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in transcriptional regulation.

Subcellular location. Nucleus.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NUA8-1	1	yes
Q9NUA8-2	2

RefSeq proteins (3): NP_001077090, NP_001317327, NP_055685* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR030404	ZBTB40_BTB_POZ_dom	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF00651, PF12874

UniProt features (33 total): zinc finger region 12, compositionally biased region 5, sequence variant 4, region of interest 3, splice variant 3, modified residue 2, chain 1, domain 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUA8-F1	66.33	0.00

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 (3): 190, 703, 1066

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 182 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, MORF_FLT1, MORF_MSH3, MORF_BRCA1, TGACCTY_ERR1_Q2, YY1_Q6, GGCNKCCATNK_UNKNOWN, MORF_RAD51L3, COUP_01, FREAC3_01, GOBP_BONE_MINERALIZATION, MORF_CTSB, YY1_02, MORF_PRKCA, HNF4_DR1_Q3

GO Biological Process (3): regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), bone mineralization (GO:0030282)

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 (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
cellular response to stress	1
ossification	1
biomineral tissue development	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
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1372 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZBTB40	WRAP73	Q9P2S5	826
ZBTB40	MEGF6	O75095	763
ZBTB40	LRP5	O75197	682
ZBTB40	CYP17A1	P05093	619
ZBTB40	MIMS1	Q96ND0	592
ZBTB40	TNFSF11	O14788	584
ZBTB40	AKAP11	Q9UKA4	580
ZBTB40	DCDC1	P59894	580
ZBTB40	CCDC170	Q8IYT3	571
ZBTB40	STARD3NL	O95772	545
ZBTB40	TMEM135	Q86UB9	536
ZBTB40	HROB	Q8N3J3	530
ZBTB40	CD3D	P04234	521
ZBTB40	FOXL1	Q12952	507
ZBTB40	SPTBN1	Q01082	507

IntAct

25 interactions, top by confidence:

A	B	Type	Score
ZNF576	ZBED1	psi-mi:“MI:0914”(association)	0.640
IER2	KPNA3	psi-mi:“MI:0914”(association)	0.530
ZNF689	ZNF593	psi-mi:“MI:0914”(association)	0.530
IER2	KPNA4	psi-mi:“MI:0914”(association)	0.530
Dlg4	ZBTB40	psi-mi:“MI:0407”(direct interaction)	0.440
ZBTB40	H2BC20P	psi-mi:“MI:0915”(physical association)	0.400
CDC37	ZBTB40	psi-mi:“MI:0915”(physical association)	0.400
FOXB1	DDX39A	psi-mi:“MI:0914”(association)	0.350
NELL2	MATN2	psi-mi:“MI:0914”(association)	0.350
A1BG	WDR62	psi-mi:“MI:0914”(association)	0.350
FBLN5	ZNF320	psi-mi:“MI:0914”(association)	0.350
TEX19	ZNF316	psi-mi:“MI:0914”(association)	0.350
TRIM45	RABEP2	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
ZNF689	TRIM28	psi-mi:“MI:0914”(association)	0.350
ELF2	SETD1A	psi-mi:“MI:2364”(proximity)	0.270
NFIX	TAF4	psi-mi:“MI:2364”(proximity)	0.270
FHL1	ZBTB40	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (30): ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-RNA), ZBTB40 (Proximity Label-MS), ZBTB40 (Proximity Label-MS), ZBTB40 (Two-hybrid), ZBTB40 (Positive Genetic), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS), ZBTB40 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LI67, A0JN76, A1L2U9, A2A5N8, A2AJ77, A6QPM3, B1WAZ8, B8A5Y1, D3ZWK4, E9Q3T6, E9Q8T2, O15060, O88866, O94966, P0C2N6, P57058, Q05516, Q0IH98, Q0IJ29, Q3B725, Q3TES0, Q3UZD5, Q4R739, Q60760, Q68UT7, Q6NZK8, Q6P2A1, Q6P4K6, Q6Q783, Q6S5L9, Q6YND2, Q76M68, Q7ZWZ4, Q80X44, Q8BXX2, Q8N680, Q8NE63, Q96CK0, Q99592, Q9GZV8

Diamond homologs: A0JN76, A1L2U9, A1YEX3, A1YPR0, A2AAX3, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, D3ZA50, O14867, O15062, O15156, O15209, O43167, O43298, O43829, O88282, O88939, O93567, O95365, P24278, P41182, P41183, P52739, P97302, P97303, Q08376, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q2T9Z7, Q3B725, Q3B7N9, Q3SWU4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	143
Likely benign	16
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

3360 predictions. Top by Δscore:

Variant	Effect	Δscore
1:22491480:G:GT	donor_gain	1.0000
1:22491529:AGGAG:A	donor_loss	1.0000
1:22491530:GGAG:G	donor_gain	1.0000
1:22491530:GGAGG:G	donor_loss	1.0000
1:22491531:G:GT	donor_gain	1.0000
1:22491532:AG:A	donor_loss	1.0000
1:22491533:GGTA:G	donor_loss	1.0000
1:22491535:T:A	donor_loss	1.0000
1:22502440:GG:G	donor_gain	1.0000
1:22502441:GG:G	donor_gain	1.0000
1:22502451:TC:T	donor_gain	1.0000
1:22506043:CTGCA:C	acceptor_loss	1.0000
1:22506044:TGCAG:T	acceptor_loss	1.0000
1:22506046:CAG:C	acceptor_loss	1.0000
1:22506047:A:C	acceptor_loss	1.0000
1:22506048:G:GT	acceptor_loss	1.0000
1:22508727:GGCAG:G	donor_gain	1.0000
1:22508728:GCAG:G	donor_gain	1.0000
1:22508728:GCAGG:G	donor_gain	1.0000
1:22508729:CAGG:C	donor_loss	1.0000
1:22508731:GGT:G	donor_loss	1.0000
1:22508732:G:GA	donor_loss	1.0000
1:22508732:G:GG	donor_gain	1.0000
1:22508733:T:A	donor_loss	1.0000
1:22509098:A:AG	acceptor_gain	1.0000
1:22509098:AGT:A	acceptor_gain	1.0000
1:22509099:G:GA	acceptor_gain	1.0000
1:22509099:GT:G	acceptor_gain	1.0000
1:22509099:GTG:G	acceptor_gain	1.0000
1:22509099:GTGA:G	acceptor_gain	1.0000

AlphaMissense

8177 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:22512098:T:C	C809R	1.000
1:22512107:T:C	C812R	1.000
1:22512119:T:C	F816L	1.000
1:22512120:T:C	F816S	1.000
1:22512120:T:G	F816C	1.000
1:22512121:T:A	F816L	1.000
1:22512121:T:G	F816L	1.000
1:22512924:G:A	G821D	1.000
1:22512932:T:C	Y824H	1.000
1:22512933:A:G	Y824C	1.000
1:22512935:C:A	H825N	1.000
1:22512935:C:G	H825D	1.000
1:22512952:C:A	H830Q	1.000
1:22512952:C:G	H830Q	1.000
1:22512995:T:C	F845L	1.000
1:22512996:T:C	F845S	1.000
1:22512996:T:G	F845C	1.000
1:22512997:T:A	F845L	1.000
1:22512997:T:G	F845L	1.000
1:22513021:C:A	N853K	1.000
1:22513021:C:G	N853K	1.000
1:22513022:C:A	H854N	1.000
1:22513022:C:G	H854D	1.000
1:22513024:C:A	H854Q	1.000
1:22513024:C:G	H854Q	1.000
1:22513052:T:C	F864L	1.000
1:22513054:C:A	F864L	1.000
1:22513054:C:G	F864L	1.000
1:22513058:T:C	C866R	1.000
1:22513079:T:C	F873L	1.000

dbSNP variants (sampled 300 via entrez): RS1000091543 (1:22491716 C>A,G,T), RS1000113247 (1:22468281 C>T), RS1000120516 (1:22509348 T>C,G), RS1000132416 (1:22442401 T>C), RS1000161790 (1:22439465 T>G), RS1000173923 (1:22452184 C>G), RS1000180162 (1:22495181 G>A), RS1000221244 (1:22502338 T>G), RS1000301557 (1:22531629 C>T), RS1000303673 (1:22451193 C>T), RS1000338388 (1:22475123 C>A,T), RS1000367014 (1:22489672 G>A), RS1000371569 (1:22452376 T>C), RS1000458561 (1:22443993 A>G), RS1000526125 (1:22526780 A>G)

Disease associations

OMIM: gene MIM:612106 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
neurodevelopmental disorder	Limited	Autosomal recessive

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST000180_1	Bone mineral density (spine)	9.000000e-09
GCST000181_3	Bone mineral density (hip)	5.000000e-16
GCST000494_3	Bone mineral density (spine)	3.000000e-10
GCST000495_1	Bone mineral density (hip)	9.000000e-08
GCST001050_3	Bone mineral density	9.000000e-07
GCST001050_7	Bone mineral density	1.000000e-06
GCST001894_8	Endometriosis	3.000000e-09
GCST002276_11	Bone mineral density	3.000000e-08
GCST002276_13	Bone mineral density	3.000000e-13
GCST004858_2	Dupuytren’s disease	3.000000e-15
GCST005146_25	Birth weight	1.000000e-09
GCST005795_12	Femoral neck bone mineral density	1.000000e-20
GCST005796_1	Lumbar spine bone mineral density	5.000000e-18
GCST006143_17	Bone mineral density (total hip)	8.000000e-09
GCST006288_100	Heel bone mineral density	3.000000e-25
GCST006288_251	Heel bone mineral density	8.000000e-16
GCST006288_598	Heel bone mineral density	1.000000e-50
GCST006288_599	Heel bone mineral density	7.000000e-36
GCST006288_705	Heel bone mineral density	1.000000e-25
GCST006288_706	Heel bone mineral density	8.000000e-20
GCST006979_864	Heel bone mineral density	1.000000e-139
GCST006979_865	Heel bone mineral density	2.000000e-25
GCST007014_2	Lumbar spine bone mineral density (trabecular)	1.000000e-10
GCST007015_11	Lumbar spine bone mineral density (integral)	1.000000e-10
GCST007691_20	Femoral neck bone mineral density	7.000000e-57
GCST007935_5	Medication use (drugs affecting bone structure and mineralization)	2.000000e-08
GCST008662_14	Lung function in never smokers (low FEV1 vs high FEV1)	2.000000e-07
GCST009439_10	Age-related cognitive decline (language) (slope of z-scores)	9.000000e-06
GCST012048_1	Triglyceride levels	7.000000e-07

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004229	Dupuytren Contracture
EFO:0004344	birth weight
EFO:0007785	femoral neck bone mineral density
EFO:0007701	spine bone mineral density
EFO:0007702	hip bone mineral density
EFO:0009270	heel bone mineral density
EFO:0007620	volumetric bone mineral density
EFO:0009936	Drugs affecting bone structure and mineralization use measurement
EFO:0004314	forced expiratory volume
EFO:0007710	cognitive decline measurement
EFO:0004530	triglyceride measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5069378 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects cotreatment, increases abundance	5
Arsenic	affects cotreatment, increases abundance, increases expression	2
Benzo(a)pyrene	decreases methylation, increases mutagenesis	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	decreases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Vorinostat	decreases expression	1
Acrolein	increases abundance, affects cotreatment, decreases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Atrazine	decreases expression	1
Caffeine	increases phosphorylation	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Folic Acid	decreases expression	1
Hydrogen Peroxide	affects expression	1
Lead	affects expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5059511	Binding	Proteomics fold change data (SUDHL4 cells, 1h)	Data for DCP probe CCT369260

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