ABLIM3

Summary

ABLIM3 (actin binding LIM protein family member 3, HGNC:29132) is a protein-coding gene on chromosome 5q32, encoding Actin-binding LIM protein 3 (O94929). May act as scaffold protein.

This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients.

Source: NCBI Gene 22885 — RefSeq curated summary.

At a glance

• GWAS associations: 14
• Clinical variants (ClinVar): 149 total — 5 pathogenic
• MANE Select transcript: NM_014945

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29132
Approved symbol	ABLIM3
Name	actin binding LIM protein family member 3
Location	5q32
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0843
Ensembl gene	ENSG00000173210
Ensembl biotype	protein_coding
OMIM	611305
Entrez	22885

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000309868, ENST00000326685, ENST00000502855, ENST00000504238, ENST00000506113, ENST00000508983, ENST00000514212, ENST00000515171, ENST00000515796, ENST00000517451, ENST00000519549

RefSeq mRNA: 10 — MANE Select: NM_014945 NM_001301015, NM_001301018, NM_001301028, NM_001345858, NM_001345859, NM_001345860, NM_001345861, NM_001370417, NM_001370418, NM_014945

CCDS: CCDS4294, CCDS78069, CCDS78071, CCDS87335

Canonical transcript exons

ENST00000309868 — 24 exons

Exon	Start	End
ENSE00001200993	149242491	149242538
ENSE00001201072	149183452	149183589
ENSE00001427228	149142009	149142108
ENSE00001878782	149141493	149141654
ENSE00002057481	149258291	149260542
ENSE00003458453	149247782	149247929
ENSE00003469111	149207008	149207134
ENSE00003494648	149252201	149252208
ENSE00003504671	149237448	149237603
ENSE00003509146	149239759	149239888
ENSE00003527634	149230649	149230707
ENSE00003554980	149249815	149249844
ENSE00003557855	149251359	149251419
ENSE00003583892	149210726	149210819
ENSE00003595989	149198219	149198402
ENSE00003597157	149200316	149200428
ENSE00003622109	149239248	149239277
ENSE00003635453	149246482	149246546
ENSE00003648109	149250447	149250505
ENSE00003652937	149244881	149245015
ENSE00003658652	149252757	149252837
ENSE00003665709	149216959	149217046
ENSE00003668361	149240676	149240774
ENSE00003683833	149233229	149233300

Expression profiles

Bgee: expression breadth ubiquitous, 271 present calls, max score 98.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6743 / max 390.2350, expressed in 1385 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59343	15.1493	1366
59347	7.1494	1110
59344	0.5977	384
59345	0.3526	185
59346	0.2575	135
59348	0.1302	58
59349	0.0376	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.26	gold quality
apex of heart	UBERON:0002098	96.87	gold quality
omental fat pad	UBERON:0010414	96.86	gold quality
peritoneum	UBERON:0002358	96.80	gold quality
right atrium auricular region	UBERON:0006631	96.72	gold quality
cardiac atrium	UBERON:0002081	96.71	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.71	gold quality
cardiac muscle of right atrium	UBERON:0003379	96.45	gold quality
gluteal muscle	UBERON:0002000	96.29	gold quality
cerebellar hemisphere	UBERON:0002245	96.24	gold quality
cerebellar cortex	UBERON:0002129	96.22	gold quality
heart left ventricle	UBERON:0002084	96.18	gold quality
right hemisphere of cerebellum	UBERON:0014890	96.18	gold quality
cardiac ventricle	UBERON:0002082	96.12	gold quality
paraflocculus	UBERON:0005351	95.97	gold quality
cerebellum	UBERON:0002037	95.84	gold quality
subcutaneous adipose tissue	UBERON:0002190	95.71	gold quality
adipose tissue	UBERON:0001013	95.70	gold quality
right lobe of liver	UBERON:0001114	95.53	gold quality
left ventricle myocardium	UBERON:0006566	94.90	gold quality
cerebellar vermis	UBERON:0004720	94.86	gold quality
heart	UBERON:0000948	94.74	gold quality
connective tissue	UBERON:0002384	94.50	gold quality
myocardium	UBERON:0002349	94.07	gold quality
gastrocnemius	UBERON:0001388	93.96	gold quality
nerve	UBERON:0001021	93.37	gold quality
tibial nerve	UBERON:0001323	93.37	gold quality
decidua	UBERON:0002450	93.34	gold quality
muscle of leg	UBERON:0001383	93.30	gold quality
heart right ventricle	UBERON:0002080	93.00	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-11268	yes	2184.12
E-ANND-3	yes	13.12

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

96 targeting ABLIM3, 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-12118	100.00	65.88	1270
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-383-3P	99.85	65.84	1359
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4668-5P	99.79	70.58	3782

Literature-anchored findings (GeneRIF, showing 1)

• Results characterize a third member of the actin binding LIM protein subgroup, actin binding LIM protein 3. (PMID:16328021)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ablim3	ENSDARG00000088168
mus_musculus	Ablim3	ENSMUSG00000032735
rattus_norvegicus	Ablim3	ENSRNOG00000019365
drosophila_melanogaster	Unc-115a	FBGN0051352
drosophila_melanogaster	Unc-115b	FBGN0260463

Paralogs (3): ABLIM1 (ENSG00000099204), DMTN (ENSG00000158856), ABLIM2 (ENSG00000163995)

Protein

Protein identifiers

Actin-binding LIM protein 3 — O94929 (reviewed: O94929)

Alternative names: Actin-binding LIM protein family member 3

All UniProt accessions (3): A0A0C4DGA7, D6RHE7, O94929

UniProt curated annotations — full annotation on UniProt →

Function. May act as scaffold protein. May stimulate ABRA activity and ABRA-dependent SRF transcriptional activity.

Subunit / interactions. Directly interacts with F-actin and ABRA.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed predominantly in heart and brain.

Isoforms (4)

UniProt ID	Names	Canonical?
O94929-1	1	yes
O94929-2	2
O94929-3	3
O94929-4	4

RefSeq proteins (10): NP_001287944, NP_001287947, NP_001287957, NP_001332787, NP_001332788, NP_001332789, NP_001332790, NP_001357346, NP_001357347, NP_055760* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001781	Znf_LIM	Domain
IPR003128	Villin_headpiece	Domain
IPR032402	AbLIM_anchor	Domain
IPR036886	Villin_headpiece_dom_sf	Homologous_superfamily
IPR051618	Actin-binding_LIM	Family

Pfam: PF00412, PF02209, PF16182

UniProt features (53 total): modified residue 20, strand 6, domain 5, splice variant 5, turn 5, helix 5, compositionally biased region 3, chain 1, sequence variant 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1UJS	SOLUTION NMR
2DJ7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94929-F1	61.31	0.26

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 (20): 1, 277, 280, 282, 286, 290, 337, 372, 373, 376, 379, 388, 493, 503, 504, 543, 567, 576, 607, 631

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-418885	DCC mediated attractive signaling
R-HSA-1266738	Developmental Biology
R-HSA-373752	Netrin-1 signaling
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development

MSigDB gene sets: 180 (showing top): GOBP_PROTEIN_TARGETING, TACAATC_MIR508, FOXO4_01, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, FOXO1_01, MODULE_66, PAX8_B, MYOD_01, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_CILIUM_ORGANIZATION, CAIRO_HEPATOBLASTOMA_DN, MODULE_99, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MITOCHONDRION, ONDER_CDH1_TARGETS_2_UP

GO Biological Process (6): transcription by RNA polymerase II (GO:0006366), cytoskeleton organization (GO:0007010), lamellipodium assembly (GO:0030032), positive regulation of transcription by RNA polymerase II (GO:0045944), cilium assembly (GO:0060271), obsolete positive regulation of protein targeting to mitochondrion (GO:1903955)

GO Molecular Function (4): metal ion binding (GO:0046872), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (6): stress fiber (GO:0001725), cytoplasm (GO:0005737), actin cytoskeleton (GO:0015629), lamellipodium (GO:0030027), glutamatergic synapse (GO:0098978), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Netrin-1 signaling	1
Axon guidance	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
plasma membrane bounded cell projection assembly	2
DNA-templated transcription	1
organelle organization	1
lamellipodium organization	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	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
ciliary transition zone assembly	1
cation binding	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
actomyosin	1
contractile actin filament bundle	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoskeleton	1
cell leading edge	1
plasma membrane bounded cell projection	1
synapse	1
cell junction	1

Protein interactions and networks

STRING

992 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABLIM3	ABRA	Q8N0Z2	942
ABLIM3	SRF	P11831	690
ABLIM3	AFAP1L1	Q8TED9	502
ABLIM3	MTHFSD	Q2M296	466
ABLIM3	SH2D4A	Q9H788	462
ABLIM3	PTPRM	P28827	448
ABLIM3	GRPEL2	Q8TAA5	429
ABLIM3	NEXN	Q0ZGT2	415
ABLIM3	GNG5	P30670	413
ABLIM3	KLKB1	P03952	410
ABLIM3	DAGLB	Q8NCG7	398
ABLIM3	ADAM22	Q9P0K1	387
ABLIM3	NFIB	O00712	377
ABLIM3	LY6G6F	Q5SQ64	376
ABLIM3	ABLIM1	O14639	370

IntAct

33 interactions, top by confidence:

A	B	Type	Score
ABLIM3	IKZF3	psi-mi:“MI:0915”(physical association)	0.670
IKZF3	ABLIM3	psi-mi:“MI:0915”(physical association)	0.670
ABLIM3		psi-mi:“MI:0915”(physical association)	0.560
SSX2IP	ABLIM3	psi-mi:“MI:0915”(physical association)	0.560
ABLIM3	SSX2IP	psi-mi:“MI:0915”(physical association)	0.560
	ABLIM3	psi-mi:“MI:0915”(physical association)	0.560
AGMAT	DCX	psi-mi:“MI:0914”(association)	0.500
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
ABLIM3	CCDC33	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
	SNAP23	psi-mi:“MI:0914”(association)	0.350
	HAX1	psi-mi:“MI:0914”(association)	0.350
BVLF1	VWA8	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
GRB2	MYO1C	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
ZNF426	ABLIM3	psi-mi:“MI:0914”(association)	0.350
ABLIM3	BRCA1	psi-mi:“MI:0914”(association)	0.350
GNPDA1	ABLIM3	psi-mi:“MI:0914”(association)	0.350
A2M	SRPX2	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MCM7		psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (38): ABLIM3 (Two-hybrid), CCDC33 (Two-hybrid), SSX2IP (Two-hybrid), BRCA1 (Two-hybrid), ABLIM3 (Proximity Label-MS), ACTC1 (Affinity Capture-Western), ABLIM3 (Affinity Capture-MS), ABLIM3 (Affinity Capture-RNA), ABLIM3 (Two-hybrid), ABLIM3 (Two-hybrid), ABLIM3 (Two-hybrid), ABLIM3 (Two-hybrid), ABLIM3 (Two-hybrid), ABLIM3 (Two-hybrid), ABLIM3 (Two-hybrid)

ESM2 similar proteins: A6H7G2, F1M3L7, O00151, O60308, O70209, O70400, O94929, P36202, P50479, P52944, P70271, P97306, Q08509, Q09YN8, Q12929, Q17QE2, Q28E45, Q2LAP6, Q2QLG8, Q3SYZ8, Q4KLN0, Q4R4J1, Q4V7D7, Q53GG5, Q5E9E1, Q5PXT2, Q5R4H4, Q5RAY5, Q5RHY1, Q5XGX5, Q5ZIU8, Q66HS7, Q69ZX8, Q6AYD6, Q6GLJ6, Q6GM14, Q6KC51, Q6P616, Q6PF54, Q6QGC0

Diamond homologs: A0JNI8, A2I8Z7, A2PZF9, G5EC36, G5EE86, O14639, O35652, O60663, O88609, O94929, O97581, P20154, P25791, P25800, P25801, P29673, P29674, P34764, P34765, P36198, P36200, P37137, P48742, P50211, P50212, P50458, P50480, P50481, P52889, P53405, P53406, P53407, P53408, P53409, P53410, P53411, P53412, P53413, P53667, P53668

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	124
Likely benign	0
Benign	3

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	Pathogenic
1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	Pathogenic
394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	Pathogenic
441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	Pathogenic
442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	Pathogenic

SpliceAI

3479 predictions. Top by Δscore:

Variant	Effect	Δscore
5:149142104:TAGCA:T	donor_gain	1.0000
5:149142105:AGCA:A	donor_gain	1.0000
5:149142105:AGCAG:A	donor_loss	1.0000
5:149142106:GCA:G	donor_gain	1.0000
5:149142106:GCAG:G	donor_gain	1.0000
5:149142106:GCAGT:G	donor_loss	1.0000
5:149142107:CA:C	donor_gain	1.0000
5:149142107:CAG:C	donor_loss	1.0000
5:149142108:AGTA:A	donor_loss	1.0000
5:149142109:G:GG	donor_gain	1.0000
5:149183449:CAGT:C	acceptor_loss	1.0000
5:149183450:A:AG	acceptor_gain	1.0000
5:149183450:A:C	acceptor_loss	1.0000
5:149183451:G:GC	acceptor_gain	1.0000
5:149183451:GTT:G	acceptor_gain	1.0000
5:149183451:GTTC:G	acceptor_gain	1.0000
5:149183451:GTTCC:G	acceptor_gain	1.0000
5:149183585:TCAAG:T	donor_loss	1.0000
5:149183586:CAAGG:C	donor_loss	1.0000
5:149183587:AAGG:A	donor_loss	1.0000
5:149183588:AGGT:A	donor_loss	1.0000
5:149183589:GGTA:G	donor_loss	1.0000
5:149183590:G:GA	donor_loss	1.0000
5:149183591:T:G	donor_loss	1.0000
5:149198208:T:TA	acceptor_gain	1.0000
5:149198217:A:AG	acceptor_gain	1.0000
5:149198218:G:GA	acceptor_gain	1.0000
5:149198218:GTAT:G	acceptor_gain	1.0000
5:149198220:ATGT:A	acceptor_gain	1.0000
5:149198400:CAGG:C	donor_loss	1.0000

AlphaMissense

4486 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:149183505:T:A	C23S	1.000
5:149183505:T:C	C23R	1.000
5:149183506:G:C	C23S	1.000
5:149183507:C:G	C23W	1.000
5:149183542:T:A	V35D	1.000
5:149183562:T:C	F42L	1.000
5:149183563:T:C	F42S	1.000
5:149183564:C:A	F42L	1.000
5:149183564:C:G	F42L	1.000
5:149183574:T:A	C46S	1.000
5:149183574:T:C	C46R	1.000
5:149183575:G:C	C46S	1.000
5:149183576:C:G	C46W	1.000
5:149183577:T:C	F47L	1.000
5:149183578:T:C	F47S	1.000
5:149183578:T:G	F47C	1.000
5:149183579:C:A	F47L	1.000
5:149183579:C:G	F47L	1.000
5:149183583:T:A	C49S	1.000
5:149183583:T:C	C49R	1.000
5:149183584:G:A	C49Y	1.000
5:149183584:G:C	C49S	1.000
5:149183584:G:T	C49F	1.000
5:149183585:T:G	C49W	1.000
5:149198222:G:A	C52Y	1.000
5:149198223:T:G	C52W	1.000
5:149198248:T:C	F61L	1.000
5:149198249:T:C	F61S	1.000
5:149198250:C:A	F61L	1.000
5:149198250:C:G	F61L	1.000

dbSNP variants (sampled 300 via entrez): RS1000155921 (5:149155399 T>C), RS1000155922 (5:149240841 C>A,T), RS1000176739 (5:149143546 GA>G,GAA), RS1000180359 (5:149214806 C>A,G), RS1000198802 (5:149235178 CTG>C), RS1000203742 (5:149254698 C>G), RS1000216386 (5:149214405 A>T), RS1000226430 (5:149260742 G>A,T), RS1000283502 (5:149260399 T>A), RS1000295402 (5:149221039 T>G), RS1000300674 (5:149185245 G>A,T), RS1000302717 (5:149193536 C>A,G), RS1000326982 (5:149163340 C>T), RS1000350090 (5:149180947 G>GA), RS1000376194 (5:149233029 C>G)

Disease associations

OMIM: gene MIM:611305 | disease phenotypes:

GenCC curated gene-disease

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
GCST002783_85	Body mass index	4.000000e-07
GCST003273_17	Diastolic blood pressure	7.000000e-11
GCST004183_20	Lung function (FEV1)	4.000000e-11
GCST004777_9	Diastolic blood pressure	3.000000e-06
GCST006976_12	Macular thickness	7.000000e-32
GCST007429_12	Lung function (FVC)	2.000000e-09
GCST007430_107	Peak expiratory flow	3.000000e-06
GCST007431_101	Lung function (FEV1/FVC)	3.000000e-07
GCST007432_166	FEV1	1.000000e-14
GCST007692_19	Chronic obstructive pulmonary disease	4.000000e-06
GCST008058_22	Estimated glomerular filtration rate	4.000000e-09
GCST010796_1305	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_1306	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST012442_35	Age-related hearing impairment	8.000000e-10

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0006336	diastolic blood pressure
EFO:0004314	forced expiratory volume
EFO:0004312	vital capacity
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0004327	electrocardiography

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
Benzo(a)pyrene	affects methylation, increases expression, increases methylation	4
Cyclosporine	increases expression	3
bisphenol A	affects cotreatment, increases methylation, affects expression	2
Nickel	decreases expression	2
Tetrachlorodibenzodioxin	increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
bisphenol F	affects cotreatment, increases methylation	1
testosterone enanthate	affects expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
lead acetate	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	affects expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
sulforaphane	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
cupric chloride	increases expression	1
pentanal	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
incobotulinumtoxinA	decreases expression	1

Clinical trials (associated diseases)

202 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice