VEZF1

Summary

VEZF1 (vascular endothelial zinc finger 1, HGNC:12949) is a protein-coding gene on chromosome 17q22, encoding Vascular endothelial zinc finger 1 (Q14119). Possible transcription factor.

Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.

Source: NCBI Gene 7716 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 66 total — 1 pathogenic
• Phenotypes (HPO): 20
• Transcription factor: yes — 10 downstream targets (CollecTRI)
• MANE Select transcript: NM_007146

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12949
Approved symbol	VEZF1
Name	vascular endothelial zinc finger 1
Location	17q22
Locus type	gene with protein product
Status	Approved
Aliases	DB1
Ensembl gene	ENSG00000136451
Ensembl biotype	protein_coding
OMIM	606747
Entrez	7716

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000258963, ENST00000581208, ENST00000583932, ENST00000584396, ENST00000905170, ENST00000905171, ENST00000905172, ENST00000911413, ENST00000960055

RefSeq mRNA: 2 — MANE Select: NM_007146 NM_001330393, NM_007146

CCDS: CCDS32687, CCDS82169

Canonical transcript exons

ENST00000581208 — 6 exons

Exon	Start	End
ENSE00000925161	57979152	57979313
ENSE00000925162	57980603	57980786
ENSE00000925163	57981873	57981936
ENSE00001214198	57982699	57983393
ENSE00002726830	57988079	57988254
ENSE00003846085	57971552	57974900

Expression profiles

Bgee: expression breadth ubiquitous, 292 present calls, max score 96.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.8143 / max 252.8718, expressed in 1820 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167160	31.0744	1816
167161	4.2729	1509
167159	0.9154	604
167158	0.5516	275

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	96.02	gold quality
medial globus pallidus	UBERON:0002477	95.85	gold quality
ventricular zone	UBERON:0003053	95.80	gold quality
bronchial epithelial cell	CL:0002328	95.56	gold quality
ganglionic eminence	UBERON:0004023	95.47	gold quality
germinal epithelium of ovary	UBERON:0001304	95.43	gold quality
globus pallidus	UBERON:0001875	95.29	gold quality
epithelium of bronchus	UBERON:0002031	95.23	gold quality
caput epididymis	UBERON:0004358	95.22	gold quality
bronchus	UBERON:0002185	95.15	gold quality
cauda epididymis	UBERON:0004360	94.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.99	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.73	gold quality
biceps brachii	UBERON:0001507	94.61	gold quality
vastus lateralis	UBERON:0001379	94.58	gold quality
quadriceps femoris	UBERON:0001377	94.51	gold quality
cranial nerve II	UBERON:0000941	94.50	gold quality
gluteal muscle	UBERON:0002000	94.38	gold quality
corpus callosum	UBERON:0002336	94.38	gold quality
mammary duct	UBERON:0001765	94.27	gold quality
epithelium of mammary gland	UBERON:0003244	94.22	gold quality
inferior vagus X ganglion	UBERON:0005363	94.20	gold quality
islet of Langerhans	UBERON:0000006	94.02	gold quality
skeletal muscle tissue	UBERON:0001134	93.99	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.84	gold quality
embryo	UBERON:0000922	93.79	gold quality
corpus epididymis	UBERON:0004359	93.58	gold quality
saphenous vein	UBERON:0007318	93.57	gold quality
skeletal muscle organ	UBERON:0014892	93.53	gold quality
muscle organ	UBERON:0001630	93.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.75
E-GEOD-100618	no	858.25

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

10 targets.

Target	Regulation
CITED2	Repression
CNTN2
EDN1	Activation
GSK3B
HOXA9
IL3	Activation
INS
PFKFB3
THEG
VEZF1

JASPAR motifs

Motif	Name	Family
MA1578.1	VEZF1	More than 3 adjacent zinc fingers
MA1578.2	VEZF1	More than 3 adjacent zinc fingers

JASPAR matrix evidence (PMIDs): PMID:20062523

Upstream regulators (CollecTRI, top): HOXA9, VEZF1

Literature-anchored findings (GeneRIF, showing 8)

• find examples of genes in which Vezf1 binding sites are located near cassette exons, and in which loss of Vezf1 leads to a change in the relative abundance of alternatively spliced messages (PMID:22308494)
• Vezf1 regulates cardiac structure and contractile function. (PMID:31911272)
• VEZF1-guanine quadruplex DNA interaction regulates alternative polyadenylation and detyrosinase activity of VASH1. (PMID:33231681)
• TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer. (PMID:34973391)
• Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis. (PMID:36117164)
• VEZF1, destabilized by STUB1, affects cellular growth and metastasis of hepatocellular carcinoma by transcriptionally regulating PAQR4. (PMID:36241701)
• VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy. (PMID:36657711)
• SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1. (PMID:39479456)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	vezf1a	ENSDARG00000008247
danio_rerio	vezf1b	ENSDARG00000061030
mus_musculus	Vezf1	ENSMUSG00000018377
rattus_norvegicus	Vezf1	ENSRNOG00000009819

Paralogs (36): ZBTB32 (ENSG00000011590), SNAI2 (ENSG00000019549), PRDM1 (ENSG00000057657), PRDM6 (ENSG00000061455), ZNF76 (ENSG00000065029), PATZ1 (ENSG00000100105), MAZ (ENSG00000103495), ZBTB16 (ENSG00000109906), ZNF451 (ENSG00000112200), ZBTB45 (ENSG00000119574), ZNF410 (ENSG00000119725), SNAI1 (ENSG00000124216), ZNF384 (ENSG00000126746), ZBTB1 (ENSG00000126804), PRDM14 (ENSG00000147596), ZNF276 (ENSG00000158805), ZNF362 (ENSG00000160094), ZNF653 (ENSG00000161914), ZNF281 (ENSG00000162702), ZNF148 (ENSG00000163848), ZNF143 (ENSG00000166478), HIC2 (ENSG00000169635), PRDM10 (ENSG00000170325), ZNF296 (ENSG00000170684), ZNF692 (ENSG00000171163), ZNF575 (ENSG00000176472), HIC1 (ENSG00000177374), ZBTB18 (ENSG00000179456), ZBTB42 (ENSG00000179627), ZBTB20 (ENSG00000181722), ZBTB7C (ENSG00000184828), SNAI3 (ENSG00000185669), ZFP91 (ENSG00000186660), MTF1 (ENSG00000188786), SCRT2 (ENSG00000215397), SCRT1 (ENSG00000261678)

Protein

Protein identifiers

Vascular endothelial zinc finger 1 — Q14119 (reviewed: Q14119)

Alternative names: Putative transcription factor DB1, Zinc finger protein 161

All UniProt accessions (4): Q14119, J3QLN5, J3QSH4, J9JIC7

UniProt curated annotations — full annotation on UniProt →

Function. Possible transcription factor. Specifically binds to the CT/GC-rich region of the interleukin-3 promoter and mediates tax transactivation of IL-3.

Subunit / interactions. Interacts with ARHGAP22.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed. Highest levels in skeletal muscle and kidney.

Disease relevance. Cardiomyopathy, dilated, 1OO (CMD1OO) [MIM:620247] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1OO inheritance is autosomal dominant. The disease may be caused by variants affecting the gene represented in this entry.

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

RefSeq proteins (2): NP_001317322, NP_009077* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13894

UniProt features (18 total): zinc finger region 6, repeat 4, region of interest 2, sequence conflict 2, chain 1, compositionally biased region 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14119-F1	60.93	0.09

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 (1): 362

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 340 (showing top): GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, AHRARNT_01, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, CREL_01, GOBP_EPITHELIUM_DEVELOPMENT, MYOGENIN_Q6, WWTAAGGC_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GCM_ZNF198, GOBP_REGULATION_OF_ENDOTHELIAL_CELL_DIFFERENTIATION, TATTATA_MIR374, GCM_PPM1D

GO Biological Process (7): angiogenesis (GO:0001525), endothelial cell development (GO:0001885), regulation of transcription by RNA polymerase II (GO:0006357), cellular defense response (GO:0006968), positive regulation of endothelial cell differentiation (GO:0045603), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (7): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endothelial cell differentiation	2
regulation of DNA-templated transcription	2
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
epithelial cell development	1
defense response	1
positive regulation of epithelial cell differentiation	1
regulation of endothelial cell differentiation	1
positive regulation of DNA-templated transcription	1
DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription cis-regulatory region 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
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1296 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VEZF1	CYP2C19	P33259	649
VEZF1	CYP2D6	P10635	567
VEZF1	DNMT3B	Q9UBC3	547
VEZF1	MORF4L1	Q9UBU8	520
VEZF1	CYP3A4	P05184	497
VEZF1	B3GAT2	Q9NPZ5	494
VEZF1	WDR44	Q5JSH3	490
VEZF1	IL3	P08700	424
VEZF1	CYP4A11	Q02928	424
VEZF1	XRN1	Q8IZH2	417
VEZF1	USF1	P22415	410
VEZF1	CYP2E1	P05181	385
VEZF1	PLAGL2	Q9UPG8	375
VEZF1	DEFB1	P60022	373
VEZF1	TBC1D5	Q92609	360

IntAct

220 interactions, top by confidence:

A	B	Type	Score
VEZF1	GOLGA2	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	EIF3F	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	CAPN3	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	ARHGEF9	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	UBE2I	psi-mi:“MI:0915”(physical association)	0.560
TRAF2	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	SF3A2	psi-mi:“MI:0915”(physical association)	0.560
EIF3F	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
AGR2	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	DAZAP2	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	SPAG16	psi-mi:“MI:0915”(physical association)	0.560
CAPN3	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
ARHGEF9	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	CEP76	psi-mi:“MI:0915”(physical association)	0.560
	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	KCTD7	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	LZTS2	psi-mi:“MI:0915”(physical association)	0.560
GOLGA6L9	VEZF1	psi-mi:“MI:0915”(physical association)	0.560
VEZF1	EHMT2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (126): VEZF1 (Affinity Capture-MS), VEZF1 (Affinity Capture-MS), VEZF1 (Affinity Capture-MS), VEZF1 (Affinity Capture-MS), VEZF1 (Affinity Capture-MS), VEZF1 (Affinity Capture-MS), VEZF1 (Synthetic Lethality), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid), VEZF1 (Two-hybrid)

ESM2 similar proteins: A2BID7, A5PKF5, E9Q1P8, O15209, O35615, P56270, P56670, P56671, P60622, P70298, P78364, Q07916, Q14119, Q2I689, Q2MJS2, Q3UTQ7, Q58NQ5, Q5EIC4, Q5NBY9, Q5TJE2, Q5U2T6, Q64028, Q69ZI1, Q6DJT9, Q6NXK2, Q7T3H2, Q7Z3K3, Q7Z5L9, Q86UZ6, Q8BZH4, Q8IXK0, Q8K3X4, Q8N1G0, Q8N1W2, Q8R205, Q8VHG2, Q96EK4, Q96K80, Q99PP7, Q9H1B7

Diamond homologs: A1L2U9, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, B1WAZ8, B1WBU4, E9PW05, E9PZZ1, G5EBU4, O15391, O60315, O62836, O75362, O77459, O95863, P08048, P0CS62, P0CS63, P10925, P15822, P17010, P17012, P20662, P22227, P25490, P28166, P31509, P31629, P36197, P52739, P52746, P56270, P56670, P56671, P60319, P80944, Q00899, Q00900

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
VEZF1	“down-regulates quantity by repression”	CITED2	“transcriptional regulation”
VEZF1	“up-regulates quantity by expression”	EDN1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	40
Likely benign	10
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2443871	NM_007146.3(VEZF1):c.490A>T (p.Lys164Ter)	Pathogenic

SpliceAI

1206 predictions. Top by Δscore:

Variant	Effect	Δscore
17:57979310:CATG:C	acceptor_gain	1.0000
17:57980601:A:AC	donor_gain	1.0000
17:57980602:C:CC	donor_gain	1.0000
17:57980782:CACGT:C	acceptor_gain	1.0000
17:57980784:CGT:C	acceptor_gain	1.0000
17:57974898:CTT:C	acceptor_gain	0.9900
17:57974899:TT:T	acceptor_gain	0.9900
17:57974899:TTCTA:T	acceptor_loss	0.9900
17:57974900:TCTAA:T	acceptor_loss	0.9900
17:57974901:C:CC	acceptor_gain	0.9900
17:57979146:CCTTA:C	donor_loss	0.9900
17:57979147:CTTA:C	donor_loss	0.9900
17:57979148:TTAC:T	donor_loss	0.9900
17:57979149:TA:T	donor_loss	0.9900
17:57979150:ACCTT:A	donor_loss	0.9900
17:57979151:C:A	donor_loss	0.9900
17:57979207:C:A	donor_gain	0.9900
17:57979309:GCATG:G	acceptor_gain	0.9900
17:57979310:CATGC:C	acceptor_gain	0.9900
17:57979312:TG:T	acceptor_gain	0.9900
17:57979313:GCT:G	acceptor_loss	0.9900
17:57979314:C:CC	acceptor_gain	0.9900
17:57979317:T:TC	acceptor_gain	0.9900
17:57980611:ATG:A	donor_gain	0.9900
17:57980624:A:C	donor_gain	0.9900
17:57980640:A:AC	donor_gain	0.9900
17:57980641:C:CC	donor_gain	0.9900
17:57980785:GTC:G	acceptor_loss	0.9900
17:57980786:TCTGC:T	acceptor_loss	0.9900
17:57980787:C:CC	acceptor_gain	0.9900

AlphaMissense

3437 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:57980769:A:C	F270L	1.000
17:57980769:A:T	F270L	1.000
17:57980771:A:G	F270L	1.000
17:57981878:A:G	C263R	1.000
17:57982704:G:C	F241L	1.000
17:57982704:G:T	F241L	1.000
17:57982705:A:G	F241S	1.000
17:57982706:A:G	F241L	1.000
17:57982817:A:G	C204R	1.000
17:57982878:G:C	F183L	1.000
17:57982878:G:T	F183L	1.000
17:57982880:A:G	F183L	1.000
17:57983178:G:C	F83L	1.000
17:57983178:G:T	F83L	1.000
17:57983180:A:G	F83L	1.000
17:57983201:A:G	C76R	1.000
17:57980667:G:C	H304Q	0.999
17:57980667:G:T	H304Q	0.999
17:57980669:G:C	H304D	0.999
17:57980705:A:G	C292R	0.999
17:57980714:A:G	C289R	0.999
17:57980742:G:C	H279Q	0.999
17:57980742:G:T	H279Q	0.999
17:57980744:G:C	H279D	0.999
17:57980752:A:G	L276P	0.999
17:57980754:T:A	R275S	0.999
17:57980754:T:G	R275S	0.999
17:57980770:A:G	F270S	0.999
17:57980781:G:C	C266W	0.999
17:57980783:A:G	C266R	0.999

dbSNP variants (sampled 300 via entrez): RS1000074295 (17:57987830 CGTGTGTGT>C,CGT,CGTGTGT), RS1000255549 (17:57990028 T>C), RS1000492814 (17:57972763 CATTTATAAAATT>C), RS1000742703 (17:57976939 C>T), RS1000962650 (17:57988574 C>A,T), RS1000974653 (17:57983412 A>C,G,T), RS1001078570 (17:57988680 C>G,T), RS1001581379 (17:57973658 T>C), RS1001637416 (17:57980082 A>G), RS1001742511 (17:57986807 A>G), RS1002104976 (17:57977679 T>C), RS1002407086 (17:57984716 T>A), RS1002494996 (17:57971789 C>T), RS1002623923 (17:57989411 AT>A), RS1002774460 (17:57980535 C>T)

Disease associations

OMIM: gene MIM:606747 | disease phenotypes: MIM:620247

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal dominant
cardiomyopathy, dilated, 100	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
cardiomyopathy, dilated, 100	No Known Disease Relationship	AD

Mondo (2): cardiomyopathy, dilated, 100 (MONDO:0859381), autism spectrum disorder (MONDO:0005258)

Orphanet (0):

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000969	Edema
HP:0001631	Atrial septal defect
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001727	Thromboembolic stroke
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003596	Middle age onset
HP:0006682	Premature ventricular contraction
HP:0011462	Young adult onset
HP:0011675	Arrhythmia
HP:0011706	Second degree atrioventricular block
HP:0012378	Fatigue
HP:0012664	Reduced left ventricular ejection fraction
HP:0012764	Orthopnea
HP:0025169	Left ventricular systolic dysfunction
HP:0100578	Lipoatrophy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009391_631	Metabolite levels	9.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010503	inosine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	3
Cadmium Chloride	decreases expression, increases abundance, increases expression	3
bisphenol F	affects cotreatment, increases methylation, increases expression	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Formaldehyde	decreases expression, increases expression	2
Tretinoin	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
beta-lapachone	decreases expression	1
sodium bichromate	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
nickel subsulfide	decreases expression	1
butyraldehyde	decreases expression	1
tamibarotene	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Atrazine	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Cytarabine	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	increases O-linked glycosylation, decreases activity	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances
NCT05439616	PHASE3	COMPLETED	Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder