ZNF219

Summary

ZNF219 (zinc finger protein 219, HGNC:13011) is a protein-coding gene on chromosome 14q11.2, encoding Zinc finger protein 219 (Q9P2Y4). Transcriptional regulator.

This gene is a member of the Kruppel-like zinc finger gene family. The encoded protein functions as a transcriptional repressor of the high mobility group nucleosome binding domain 1 protein, which is associated with transcriptionally active chromatin.

Source: NCBI Gene 51222 — RefSeq curated summary.

At a glance

• Gene–disease (curated): microphthalmia (Limited, GenCC)
• GWAS associations: 2
• Clinical variants (ClinVar): 96 total
• MANE Select transcript: NM_016423

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13011
Approved symbol	ZNF219
Name	zinc finger protein 219
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000165804
Ensembl biotype	protein_coding
OMIM	605036
Entrez	51222

Gene structure

Transcript identifiers

Ensembl transcripts: 34 — 31 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 TEC

ENST00000360947, ENST00000421093, ENST00000451119, ENST00000553296, ENST00000553980, ENST00000554478, ENST00000554923, ENST00000555270, ENST00000555697, ENST00000556101, ENST00000556174, ENST00000556944, ENST00000624093, ENST00000878251, ENST00000878252, ENST00000878253, ENST00000878254, ENST00000878255, ENST00000878256, ENST00000878257, ENST00000878258, ENST00000918830, ENST00000918831, ENST00000918832, ENST00000918833, ENST00000918834, ENST00000918835, ENST00000918836, ENST00000918837, ENST00000918838, ENST00000918839, ENST00000918840, ENST00000950347, ENST00000950348

RefSeq mRNA: 3 — MANE Select: NM_016423 NM_001101672, NM_001102454, NM_016423

CCDS: CCDS9568

Canonical transcript exons

ENST00000360947 — 5 exons

Exon	Start	End
ENSE00001096720	21090077	21091140
ENSE00001096722	21091865	21093290
ENSE00001096724	21098312	21098655
ENSE00001096726	21091411	21091542
ENSE00003464740	21093586	21093674

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 96.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.3567 / max 206.9743, expressed in 1723 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142121	14.3985	1693
142120	1.1932	518
142122	0.6903	444
142119	0.3756	153
142117	0.2530	60
142123	0.1465	44
142116	0.1444	55
142125	0.0966	42
142118	0.0586	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland	UBERON:0001233	96.74	gold quality
right adrenal gland cortex	UBERON:0035827	96.61	gold quality
left adrenal gland cortex	UBERON:0035825	96.58	gold quality
left adrenal gland	UBERON:0001234	96.43	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.33	gold quality
lower esophagus mucosa	UBERON:0035834	95.91	gold quality
adrenal cortex	UBERON:0001235	95.67	gold quality
lower esophagus	UBERON:0013473	95.57	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.55	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.47	gold quality
apex of heart	UBERON:0002098	95.32	gold quality
mucosa of transverse colon	UBERON:0004991	95.24	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.74	gold quality
cerebellar hemisphere	UBERON:0002245	94.71	gold quality
cerebellar cortex	UBERON:0002129	94.57	gold quality
transverse colon	UBERON:0001157	94.52	gold quality
esophagus	UBERON:0001043	93.86	gold quality
adrenal gland	UBERON:0002369	93.67	gold quality
skin of leg	UBERON:0001511	93.44	gold quality
cerebellum	UBERON:0002037	93.22	gold quality
mucosa of stomach	UBERON:0001199	93.21	gold quality
esophagus mucosa	UBERON:0002469	93.21	gold quality
skin of abdomen	UBERON:0001416	92.98	gold quality
ectocervix	UBERON:0012249	92.75	gold quality
right coronary artery	UBERON:0001625	92.55	gold quality
ventricular zone	UBERON:0003053	92.55	gold quality
right lobe of thyroid gland	UBERON:0001119	92.48	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.43	gold quality
ganglionic eminence	UBERON:0004023	92.36	gold quality
right atrium auricular region	UBERON:0006631	92.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.82

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
ACAN	Activation
COL11A2	Activation
COL2A1	Activation
HMGN1
SNCA

miRNA regulators (miRDB)

46 targeting ZNF219, 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-4283	100.00	66.42	2097
HSA-MIR-2110	99.96	66.68	1930
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6780B-3P	99.13	67.18	622
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-3154	98.94	66.55	1455
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-211-3P	98.14	66.77	1052

Literature-anchored findings (GeneRIF, showing 4)

• By using a random oligonucleotide selection assay and the electromobility gel shift assay, we have revealed that the ZNF219 protein recognizes two copies of CCCCCA. (PMID:14621294)
• regulates chondrocyte differentiation as a transcriptional partner of Sox9 (PMID:20940257)
• ZNF219 protects human lens epithelial cells against H2O2-induced injury via targeting SOX9 through activating AKT/GSK3beta pathway. (PMID:34167360)
• ZNF219, a novel transcriptional repressor, inhibits transcription of the prototype foamy virus by interacting with the viral LTR promoter. (PMID:37356580)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	znf516	ENSDARG00000070809
mus_musculus	Zfp219	ENSMUSG00000049295
rattus_norvegicus	Zfp219	ENSRNOG00000011544
drosophila_melanogaster	salr	FBGN0000287
drosophila_melanogaster	Cph	FBGN0029939
drosophila_melanogaster	salm	FBGN0261648
caenorhabditis_elegans	sem-4	WBGENE00004773
caenorhabditis_elegans		WBGENE00017430

Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), SALL4 (ENSG00000101115), ZNF516 (ENSG00000101493), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), ZNF831 (ENSG00000124203), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), ZNF536 (ENSG00000198597), SALL3 (ENSG00000256463)

Protein

Protein identifiers

Zinc finger protein 219 — Q9P2Y4 (reviewed: Q9P2Y4)

All UniProt accessions (8): Q9P2Y4, G3V2E3, G3V2Q8, G3V2W3, G3V3F2, G3V452, G3V4M7, G3V4T1

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional regulator. Recognizes and binds 2 copies of the core DNA sequence motif 5’-GGGGG-3’. Binds to the HMGN1 promoter and may repress HMGN1 expression. Regulates SNCA expression in primary cortical neurons. Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with SOX9. Plays a role in chondrocyte differentiation.

Subunit / interactions. Interacts with SOX9 (via C-terminus).

Subcellular location. Nucleus.

Tissue specificity. Ubiquitous.

Domain organisation. C2H2-type zinc-finger domains 5 and 6 are important for the interaction with SOX9.

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

RefSeq proteins (3): NP_001095142, NP_001095924, NP_057507* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003980	Histamine_H3_rcpt	Family
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051967	Krueppel_C2H2-ZF	Family

Pfam: PF00096

UniProt features (31 total): zinc finger region 9, compositionally biased region 8, region of interest 6, modified residue 4, sequence conflict 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2Y4-F1	56.46	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 (4): 16, 692, 695, 698

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, GTGCCTT_MIR506, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GATA6_01, GOBP_CHONDROCYTE_DIFFERENTIATION, GOBP_APPENDAGE_DEVELOPMENT, GOBP_REGULATION_OF_CHONDROCYTE_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_CARTILAGE_DEVELOPMENT, AACTTT_UNKNOWN, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, GOBP_CONNECTIVE_TISSUE_DEVELOPMENT

GO Biological Process (7): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), positive regulation of chondrocyte differentiation (GO:0032332), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), limb bud formation (GO:0060174), G protein-coupled receptor signaling pathway (GO:0007186)

GO Molecular Function (9): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), histamine receptor activity (GO:0004969), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
regulation of DNA-templated transcription	2
cellular anatomical structure	2
negative regulation of DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
chondrocyte differentiation	1
regulation of chondrocyte differentiation	1
positive regulation of cell differentiation	1
positive regulation of cartilage development	1
negative regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
limb morphogenesis	1
anatomical structure formation involved in morphogenesis	1
G protein-coupled receptor activity	1
signal transduction	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
G protein-coupled amine receptor activity	1
histamine binding	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1

Protein interactions and networks

STRING

962 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNF219	HMGN1	P05114	907
ZNF219	HMGN5	P82970	750
ZNF219	HMGN2	P05204	639
ZNF219	SOX9	P48436	483
ZNF219	RNF141	Q8WVD5	434
ZNF219	KRT24	Q2M2I5	430
ZNF219	ETS2	P15036	393
ZNF219	CTBP2	P56545	388
ZNF219	WRAP53	Q9BUR4	385
ZNF219	HOXB9	P17482	383
ZNF219	DR1	Q01658	383
ZNF219	ARID5A	Q03989	379
ZNF219	PIK3R5	Q8WYR1	375
ZNF219	ZIC2	O95409	373
ZNF219	SOX5	P35711	358

IntAct

62 interactions, top by confidence:

A	B	Type	Score
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
ZNF219	CDK2AP1	psi-mi:“MI:0914”(association)	0.640
LMO1	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
TTC32	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
ZNF219	LMO1	psi-mi:“MI:0915”(physical association)	0.560
ATOSB	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
TRIM41	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
UBASH3A	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
AP1M1	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
GRIPAP1	ZNF219	psi-mi:“MI:0915”(physical association)	0.560
ZNF219	DR1	psi-mi:“MI:0915”(physical association)	0.560
KLHL40	CBX4	psi-mi:“MI:0914”(association)	0.530
MBD3L1	CDK2AP1	psi-mi:“MI:0914”(association)	0.530
ZNF219	RCCD1	psi-mi:“MI:0914”(association)	0.530
NOTCH2	ZNF316	psi-mi:“MI:0914”(association)	0.530
CDK4	ZNF219	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ZNF219	CSNK2A2	psi-mi:“MI:0915”(physical association)	0.370
BCL2L1	ZNF219	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (147): ZNF219 (Two-hybrid), TTC32 (Two-hybrid), ZNF219 (Affinity Capture-MS), NPAT (Affinity Capture-MS), RBBP4 (Affinity Capture-MS), RBBP7 (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), HDAC2 (Affinity Capture-MS), GATAD2B (Affinity Capture-MS), GATAD2A (Affinity Capture-MS), ZNF521 (Affinity Capture-MS), ZNF423 (Affinity Capture-MS), SPECC1L (Affinity Capture-MS), MBD2 (Affinity Capture-MS), MBD3 (Affinity Capture-MS)

ESM2 similar proteins: A2CE44, A6NFI3, A6NM28, A8K8V0, O15370, O70218, O95201, P0CJ78, P10075, P10754, P28698, P70338, Q04890, Q07120, Q14V87, Q19A40, Q569E7, Q58DK7, Q5DWN0, Q5FWU5, Q5RJR4, Q5T619, Q5TEC3, Q6DD87, Q6IQX8, Q6PD29, Q6PGE4, Q6ZMY9, Q7Z7K2, Q80VM4, Q8BIF9, Q8JZL0, Q8N8E2, Q8NAF0, Q8NCA9, Q8TD94, Q8WUU4, Q96C55, Q96H86, Q96MX3

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

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
Regulation of PTEN gene transcription	6	33.5×	4e-06
NuRD complex assembly	7	30.8×	8e-07
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	6	27.4×	8e-06
Interaction of NuRD complexes with transcription factors	5	19.8×	3e-04
Negative Regulation of CDH1 Gene Transcription	5	18.8×	3e-04
Potential therapeutics for SARS	5	17.8×	4e-04
Oxidative Stress Induced Senescence	6	17.0×	1e-04
Regulation of endogenous retroelements by KRAB-ZFP proteins	5	16.7×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2052 predictions. Top by Δscore:

Variant	Effect	Δscore
14:21091538:CTCTT:C	acceptor_gain	1.0000
14:21091540:CTT:C	acceptor_gain	1.0000
14:21091543:C:CC	acceptor_gain	1.0000
14:21092005:T:TA	donor_gain	1.0000
14:21101976:G:GG	donor_gain	1.0000
14:21102777:G:GT	donor_gain	1.0000
14:21091136:CTCGC:C	acceptor_gain	0.9900
14:21091138:CGC:C	acceptor_gain	0.9900
14:21091140:CCT:C	acceptor_loss	0.9900
14:21091141:C:CC	acceptor_gain	0.9900
14:21091142:T:A	acceptor_loss	0.9900
14:21091405:CCTCA:C	donor_loss	0.9900
14:21091407:TCACC:T	donor_loss	0.9900
14:21091408:CAC:C	donor_loss	0.9900
14:21091409:A:C	donor_loss	0.9900
14:21091410:C:CT	donor_loss	0.9900
14:21091541:TT:T	acceptor_gain	0.9900
14:21091541:TTCTG:T	acceptor_loss	0.9900
14:21091542:TCTGC:T	acceptor_loss	0.9900
14:21091543:C:T	acceptor_loss	0.9900
14:21091544:T:C	acceptor_loss	0.9900
14:21091549:C:CT	acceptor_gain	0.9900
14:21091552:A:C	acceptor_gain	0.9900
14:21091863:AC:A	donor_gain	0.9900
14:21091864:CC:C	donor_gain	0.9900
14:21091987:T:TA	donor_gain	0.9900
14:21092014:T:TA	donor_gain	0.9900
14:21098310:A:AC	donor_gain	0.9900
14:21098310:ACGAG:A	donor_gain	0.9900
14:21098311:C:CC	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000157852 (14:21099224 A>G), RS1000195848 (14:21101178 A>C), RS1000510519 (14:21098894 C>T), RS1000534266 (14:21096153 C>A), RS1000630471 (14:21097343 C>CATGGGGGGG), RS1000708801 (14:21103235 C>T), RS1000739889 (14:21102860 G>A,T), RS1000952666 (14:21093835 A>C), RS1001006640 (14:21097995 A>C), RS1001110199 (14:21100789 C>T), RS1001941964 (14:21090110 C>A,T), RS1001973210 (14:21089793 G>A), RS1002262001 (14:21103636 T>C,G), RS1002606936 (14:21096096 C>G,T), RS1003104393 (14:21098016 C>A,G,T)

Disease associations

OMIM: gene MIM:605036 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
microphthalmia	Limited	Autosomal recessive

Mondo (1): microphthalmia (MONDO:0021129)

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003818_18	Resting heart rate	4.000000e-20
GCST009391_203	Metabolite levels	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0010488	glycerol-3-phosphate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008850	Microphthalmos	C11.250.566; C16.131.384.666

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	8
trichostatin A	affects cotreatment, decreases expression	3
bisphenol A	decreases expression, decreases methylation, increases methylation	2
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases oxidation	2
Estradiol	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	decreases expression	1
arsenite	increases methylation	1
1,6-hexamethylene diisocyanate	increases methylation	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
clothianidin	decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
MT19c compound	decreases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT03748732	Not specified	UNKNOWN	Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes
NCT04759560	Not specified	UNKNOWN	Biometric Characteristics of the Eye With Microcornea/Microphthalmia and Congenital Cataract Before And After Cataract Extraction
NCT05954403	Not specified	RECRUITING	National Cohort on Congenital Defects of the Eye
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children