ZNF526

Summary

ZNF526 (zinc finger protein 526, HGNC:29415) is a protein-coding gene on chromosome 19q13.2, encoding Zinc finger protein 526 (Q8TF50). Probable transcription factor.

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be located in nucleus.

Source: NCBI Gene 116115 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Dentici-Novelli neurodevelopmental syndrome (Strong, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 152 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 29
• MANE Select transcript: NM_133444

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29415
Approved symbol	ZNF526
Name	zinc finger protein 526
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1951, MGC4267
Ensembl gene	ENSG00000167625
Ensembl biotype	protein_coding
OMIM	614387
Entrez	116115

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000301215, ENST00000597945, ENST00000710326, ENST00000907471, ENST00000907472, ENST00000907473, ENST00000907474, ENST00000939477

RefSeq mRNA: 2 — MANE Select: NM_133444 NM_001314033, NM_133444

CCDS: CCDS12598

Canonical transcript exons

ENST00000301215 — 3 exons

Exon	Start	End
ENSE00001427408	42224387	42228201
ENSE00001428957	42224215	42224305
ENSE00004011474	42220312	42220387

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 85.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.5723 / max 44.3196, expressed in 1747 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176128	7.5723	1747

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.37	gold quality
ileal mucosa	UBERON:0000331	80.17	silver quality
stromal cell of endometrium	CL:0002255	79.39	gold quality
pancreatic ductal cell	CL:0002079	79.11	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.71	gold quality
granulocyte	CL:0000094	75.55	gold quality
bone marrow cell	CL:0002092	75.38	gold quality
gastrocnemius	UBERON:0001388	74.78	gold quality
muscle of leg	UBERON:0001383	74.77	gold quality
cortical plate	UBERON:0005343	74.51	gold quality
ventricular zone	UBERON:0003053	74.49	gold quality
ganglionic eminence	UBERON:0004023	74.43	gold quality
islet of Langerhans	UBERON:0000006	73.23	gold quality
tibialis anterior	UBERON:0001385	73.05	silver quality
leukocyte	CL:0000738	72.96	gold quality
monocyte	CL:0000576	72.54	gold quality
mucosa of transverse colon	UBERON:0004991	72.01	gold quality
popliteal artery	UBERON:0002250	71.91	gold quality
tibial artery	UBERON:0007610	71.88	gold quality
right coronary artery	UBERON:0001625	71.84	gold quality
body of uterus	UBERON:0009853	71.54	gold quality
sural nerve	UBERON:0015488	71.42	gold quality
skin of leg	UBERON:0001511	71.39	gold quality
aorta	UBERON:0000947	71.37	gold quality
descending thoracic aorta	UBERON:0002345	71.35	gold quality
skeletal muscle organ	UBERON:0014892	71.24	gold quality
thoracic aorta	UBERON:0001515	71.08	gold quality
lower esophagus muscularis layer	UBERON:0035833	71.08	gold quality
lower esophagus	UBERON:0013473	71.05	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	104.07
E-CURD-88	yes	47.55
E-MTAB-6701	yes	30.57
E-HCAD-9	yes	16.54
E-HCAD-10	yes	4.13
E-ANND-3	no	3.66
E-GEOD-137537	no	3.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting ZNF526, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-6826-3P	98.19	66.32	1153
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-3661	97.83	67.30	705
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-6791-3P	97.45	64.31	1123
HSA-MIR-6829-3P	97.45	64.31	1137
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-631	97.05	66.93	602
HSA-MIR-3907	96.76	65.04	662
HSA-MIR-500B-3P	96.49	65.40	1087
HSA-MIR-6760-3P	96.35	68.31	1001

Literature-anchored findings (GeneRIF, showing 1)

• Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration. (PMID:33397746)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf526	ENSDARG00000077143
mus_musculus	Zfp526	ENSMUSG00000046541
rattus_norvegicus	Zfp526	ENSRNOG00000047526

Paralogs (36): ZNF302 (ENSG00000089335), ZNF184 (ENSG00000096654), CTCF (ENSG00000102974), ZNF574 (ENSG00000105732), ZBTB24 (ENSG00000112365), ZNF142 (ENSG00000115568), CTCFL (ENSG00000124092), ZNF473 (ENSG00000142528), ZNF827 (ENSG00000151612), ZNF689 (ENSG00000156853), ZNF208 (ENSG00000160321), ZNF91 (ENSG00000167232), ZNF764 (ENSG00000169951), ZNF747 (ENSG00000169955), ZNF282 (ENSG00000170265), ZNF160 (ENSG00000170949), ZNF497 (ENSG00000174586), ZBTB34 (ENSG00000177125), ZNF771 (ENSG00000179965), ZNF48 (ENSG00000180035), ZNF594 (ENSG00000180626), ZBTB37 (ENSG00000185278), ZFP92 (ENSG00000189420), ZNF107 (ENSG00000196247), ZNF729 (ENSG00000196350), ZNF569 (ENSG00000196437), ZNF420 (ENSG00000197050), ZNF785 (ENSG00000197162), ZNF665 (ENSG00000197497), ZNF181 (ENSG00000197841), ZNF347 (ENSG00000197937), ZNF84 (ENSG00000198040), ZBTB48 (ENSG00000204859), ZNF845 (ENSG00000213799), ZNF99 (ENSG00000213973), ZNF688 (ENSG00000229809)

Protein

Protein identifiers

Zinc finger protein 526 — Q8TF50 (reviewed: Q8TF50)

All UniProt accessions (3): Q8TF50, H9ZYJ3, M0R395

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcription factor.

Subunit / interactions. Interacts with Zincore complex components QRICH1 and SEPHS1; probably stabilizing ZNF526 at DNA-binding sites across the genome.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed.

Disease relevance. Dentici-Novelli neurodevelopmental syndrome (DENNED) [MIM:619877] An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Disease severity is variable. More severely affected individuals have profound intellectual disability, axial hypotonia, peripheral spasticity, prenatal and postnatal microcephaly, early-onset seizures, brain imaging abnormalities, and are unable to walk or speak. Patients with a less severe phenotype may achieve some developmental goals and show less severe intellectual disability. The disease is 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_001300962, NP_597701* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily

Pfam: PF00096, PF13894, PF13912

UniProt features (27 total): zinc finger region 13, compositionally biased region 5, region of interest 4, sequence variant 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TF50-F1	63.80	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 102 (showing top): KOYAMA_SEMA3B_TARGETS_UP, ZWANG_DOWN_BY_2ND_EGF_PULSE, ASH1L_TARGET_GENES, DIDO1_TARGET_GENES, FEV_TARGET_GENES, SALL4_TARGET_GENES, SNAI1_TARGET_GENES, ZNF610_TARGET_GENES, MIR4692, MIR4514, MIR3907, HP_WIDE_MOUTH, HP_ABNORMAL_LIP_MORPHOLOGY, HP_ABNORMALITY_OF_THE_DENTITION, HP_ABNORMAL_UPPER_LIP_MORPHOLOGY

GO Biological Process (0):

GO Molecular Function (4): 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
nucleic acid binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

806 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF526	C21orf58	P58505	543
ZNF526	ZC3H14	Q6PJT7	475
ZNF526	ARL14EP	Q8N8R7	444
ZNF526	CNFN	Q9BYD5	440
ZNF526	PRR19	A6NJB7	412
ZNF526	MEGF8	Q7Z7M0	408
ZNF526	DEDD2	Q8WXF8	401
ZNF526	TMEM145	Q8NBT3	397
ZNF526	PAFAH1B3	Q15102	396
ZNF526	ZFAND3	Q9H8U3	392
ZNF526	ST3GAL3	Q11203	371
ZNF526	DDX51	Q8N8A6	360
ZNF526	GTF2F1	P35269	358
ZNF526	CEACAM7	Q14002	353
ZNF526	PSG1	P11462	352

IntAct

176 interactions, top by confidence:

A	B	Type	Score
THAP12	ZNF526	psi-mi:“MI:0915”(physical association)	0.670
RPL14	RRP8	psi-mi:“MI:0914”(association)	0.640
LMO3	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
HNRNPK	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF438	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
FARS2	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	NME7	psi-mi:“MI:0915”(physical association)	0.560
PADI6	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF497	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	INO80B	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	PBK	psi-mi:“MI:0915”(physical association)	0.560
ZFP91	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
LMO1	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	YJU2	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	ZNF696	psi-mi:“MI:0915”(physical association)	0.560
IQUB	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF575	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	ZNF835	psi-mi:“MI:0915”(physical association)	0.560
U2AF2	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	TRIM41	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	ZNF524	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	ZNF578	psi-mi:“MI:0915”(physical association)	0.560
IL16	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF264	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	GPATCH2L	psi-mi:“MI:0915”(physical association)	0.560
RBM10	ZNF526	psi-mi:“MI:0915”(physical association)	0.560
ZNF526	PRPF18	psi-mi:“MI:0915”(physical association)	0.560
SEPHS1	ZNF526	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (81): CDC27 (Affinity Capture-MS), CRYZ (Affinity Capture-MS), AFF1 (Affinity Capture-MS), P4HA1 (Affinity Capture-MS), STX3 (Affinity Capture-MS), TMSB4X (Affinity Capture-MS), MLLT10 (Affinity Capture-MS), BRAP (Affinity Capture-MS), VAMP4 (Affinity Capture-MS), PSME3 (Affinity Capture-MS), SLC12A9 (Affinity Capture-MS), NLN (Affinity Capture-MS), ZNF574 (Affinity Capture-MS), PANK2 (Affinity Capture-MS), PCGF6 (Affinity Capture-MS)

ESM2 similar proteins: A2A5K6, A6QR00, D4A8X0, E9Q6W4, G3V893, O15015, O15156, O95863, P0CJ78, P10074, Q02085, Q13105, Q29RK0, Q3U3I9, Q4R8S8, Q504L7, Q5EBL2, Q5F293, Q5R4P8, Q5RJR4, Q60821, Q66K89, Q6DD87, Q6GL52, Q6NV66, Q6PGE4, Q6YND2, Q6ZN55, Q80VM4, Q8BI66, Q8BI69, Q8BIF9, Q8BY46, Q8CCE9, Q8CJ78, Q8JZL0, Q8N1W2, Q8NCA9, Q8TF50, Q8WUU4

Diamond homologs: A0A5K4F1D0, A0JC51, A4FV57, O57311, O60315, O60481, O73689, O95409, P08151, P10070, P10071, P19538, P25490, P34708, P36197, P39768, P46684, P47806, P55878, P55879, Q00899, Q0VGT2, Q15915, Q17308, Q5IS56, Q60542, Q61467, Q61602, Q62520, Q62521, Q62947, Q64318, Q6DJQ6, Q6GR30, Q6XP49, Q6ZN18, Q7JNM3, Q7K0S9, Q7SXV2, Q7TQ40

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 69 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Splicing - Major Pathway	6	8.4×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	123
Likely benign	10
Benign	7

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1457848	NC_000019.9:g.(?42703590)(42778729_?)del	Pathogenic
1687023	NM_133444.3(ZNF526):c.1512_1513del (p.Cys505fs)	Pathogenic
1687024	NM_133444.3(ZNF526):c.907_908insT (p.His303fs)	Pathogenic
1687026	NM_133444.3(ZNF526):c.1227C>G (p.His409Gln)	Pathogenic
183288	NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)	Likely pathogenic

SpliceAI

664 predictions. Top by Δscore:

Variant	Effect	Δscore
19:42217011:C:T	acceptor_gain	0.9900
19:42217012:G:T	acceptor_gain	0.9900
19:42219914:A:AC	donor_gain	0.9900
19:42219915:C:CC	donor_gain	0.9900
19:42219986:T:A	donor_gain	0.9900
19:42220372:GAGA:G	donor_gain	0.9900
19:42224213:A:AG	acceptor_gain	0.9900
19:42224214:G:GG	acceptor_gain	0.9900
19:42224302:GCTG:G	donor_gain	0.9900
19:42224304:TGGT:T	donor_loss	0.9900
19:42224306:G:GG	donor_gain	0.9900
19:42224306:GTGA:G	donor_loss	0.9900
19:42224307:T:A	donor_loss	0.9900
19:42224308:GAGTA:G	donor_loss	0.9900
19:42224383:CCA:C	acceptor_loss	0.9900
19:42224384:CAGGC:C	acceptor_loss	0.9900
19:42224385:A:AG	acceptor_gain	0.9900
19:42224385:A:T	acceptor_loss	0.9900
19:42224386:G:GG	acceptor_gain	0.9900
19:42224386:GGC:G	acceptor_gain	0.9900
19:42224386:GGCA:G	acceptor_gain	0.9900
19:42217011:C:CT	acceptor_gain	0.9800
19:42217054:C:T	acceptor_gain	0.9800
19:42219956:C:CA	donor_gain	0.9800
19:42220375:A:G	donor_gain	0.9800
19:42224210:TGCA:T	acceptor_loss	0.9800
19:42224211:GCAG:G	acceptor_loss	0.9800
19:42224214:G:A	acceptor_loss	0.9800
19:42224214:GGCT:G	acceptor_gain	0.9800
19:42224385:AG:A	acceptor_gain	0.9800

AlphaMissense

4346 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:42225589:T:C	F396L	1.000
19:42225591:C:A	F396L	1.000
19:42225591:C:G	F396L	1.000
19:42225608:T:C	F402S	1.000
19:42225907:T:C	C502R	1.000
19:42225928:T:C	F509L	1.000
19:42225930:T:A	F509L	1.000
19:42225930:T:G	F509L	1.000
19:42225955:C:G	H518D	1.000
19:42226012:T:C	F537L	1.000
19:42226013:T:C	F537S	1.000
19:42226014:C:A	F537L	1.000
19:42226014:C:G	F537L	1.000
19:42224998:T:A	C199S	0.999
19:42224998:T:C	C199R	0.999
19:42224999:G:C	C199S	0.999
19:42225038:T:C	F212S	0.999
19:42225343:T:C	F314L	0.999
19:42225345:C:A	F314L	0.999
19:42225345:C:G	F314L	0.999
19:42225403:T:C	C334R	0.999
19:42225412:T:C	C337R	0.999
19:42225414:C:G	C337W	0.999
19:42225487:T:C	C362R	0.999
19:42225508:T:C	F369L	0.999
19:42225510:T:A	F369L	0.999
19:42225510:T:G	F369L	0.999
19:42225571:T:C	C390R	0.999
19:42225577:T:A	C392S	0.999
19:42225577:T:C	C392R	0.999

dbSNP variants (sampled 300 via entrez): RS1000596705 (19:42218776 T>C), RS1000814416 (19:42219062 T>C), RS1001335723 (19:42220236 C>T), RS1001714981 (19:42220468 A>G), RS1001864200 (19:42220193 T>A,C), RS1001874344 (19:42219897 G>A), RS1002433207 (19:42227501 G>A), RS1002579218 (19:42223260 G>A), RS1002894989 (19:42220399 G>A,T), RS1003581539 (19:42221212 T>A), RS1003613078 (19:42221960 G>A), RS1004259159 (19:42228446 A>C,G), RS1004781872 (19:42221158 G>A,C), RS1005133620 (19:42222748 T>G), RS1005164733 (19:42222290 A>C)

Disease associations

OMIM: gene MIM:614387 | disease phenotypes: MIM:619877, MIM:123100, MIM:265500

GenCC curated gene-disease

Disease	Classification	Inheritance
Dentici-Novelli neurodevelopmental syndrome	Strong	Autosomal recessive

Mondo (4): Dentici-Novelli neurodevelopmental syndrome (MONDO:0859251), TWIST1-related craniosynostosis (MONDO:0007399), intellectual disability (MONDO:0001071), pulmonic stenosis (MONDO:0009938)

Orphanet (3): OBSOLETE: Isolated oxycephaly (Orphanet:63440), Congenital pulmonary valvar stenosis (Orphanet:3189), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

29 total (30 of 29 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000154	Wide mouth
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000307	Pointed chin
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead
HP:0000365	Hearing impairment
HP:0000400	Macrotia
HP:0000426	Prominent nasal bridge
HP:0000518	Cataract
HP:0000582	Upslanted palpebral fissure
HP:0000687	Widely spaced teeth
HP:0000733	Motor stereotypy
HP:0000826	Precocious puberty
HP:0001276	Hypertonia
HP:0002069	Bilateral tonic-clonic seizure
HP:0002188	Delayed CNS myelination
HP:0002421	Poor head control
HP:0002521	Hypsarrhythmia
HP:0002540	Inability to walk
HP:0003593	Infantile onset
HP:0008936	Axial hypotonia
HP:0009879	Simplified gyral pattern
HP:0011097	Epileptic spasm
HP:0011461	Fetal onset
HP:0012736	Profound global developmental delay
HP:0032794	Myoclonic seizure
HP:0033725	Thin corpus callosum
HP:0001642	Pulmonic stenosis

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010143_27	Meat-related diet	3.000000e-09
GCST012335_5	Hodgkin’s lymphoma	3.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	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
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05474924	PHASE4	UNKNOWN	The Role of Budesonide Intrapolyp Injection in CRSwNP
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT02997020	Not specified	ACTIVE_NOT_RECRUITING	Ivacaftor for Acquired CFTR Dysfunction in Chronic Rhinosinusitis (EDSPD Protocol)
NCT03379701	Not specified	COMPLETED	Applications of Nanotechnology and Chemical Sensors for the Detection and Identification of Chronic Sinusitis Subtypes by Respiratory Samples
NCT04868695	Not specified	RECRUITING	Subjective and Objective Outcome of ESS in CRSwNP
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders