WDFY1

Summary

WDFY1 (WD repeat and FYVE domain containing 1, HGNC:20451) is a protein-coding gene on chromosome 2q36.1, encoding WD repeat and FYVE domain-containing protein 1 (Q8IWB7). Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1.

The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain.

Source: NCBI Gene 57590 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 82 total — 1 pathogenic
• MANE Select transcript: NM_020830

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20451
Approved symbol	WDFY1
Name	WD repeat and FYVE domain containing 1
Location	2q36.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1435, FENS-1, WDF1, ZFYVE17
Ensembl gene	ENSG00000085449
Ensembl biotype	protein_coding
OMIM	618080
Entrez	57590

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000233055, ENST00000429915, ENST00000462702, ENST00000483061, ENST00000491453, ENST00000493001, ENST00000872441, ENST00000872442, ENST00000872443, ENST00000872444, ENST00000872445, ENST00000920547, ENST00000920548, ENST00000920549

RefSeq mRNA: 1 — MANE Select: NM_020830 NM_020830

CCDS: CCDS33387

Canonical transcript exons

ENST00000233055 — 12 exons

Exon	Start	End
ENSE00000545741	223894234	223894339
ENSE00000545742	223884648	223884749
ENSE00000786350	223881942	223882072
ENSE00000843718	223898958	223899070
ENSE00000922414	223901183	223901333
ENSE00001003126	223880124	223880232
ENSE00001824720	223945148	223945335
ENSE00001842174	223875348	223878730
ENSE00003481056	223895504	223895630
ENSE00003521412	223917943	223918010
ENSE00003572790	223905947	223906001
ENSE00003692180	223912253	223912326

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 99.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.3401 / max 399.7117, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
34180	22.1895	1809
34181	17.8188	1805
34182	1.1531	869
34176	0.1787	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.32	gold quality
oocyte	CL:0000023	99.10	gold quality
ileal mucosa	UBERON:0000331	95.79	gold quality
ileum	UBERON:0002116	95.69	silver quality
cartilage tissue	UBERON:0002418	95.41	gold quality
mucosa of sigmoid colon	UBERON:0004993	93.82	gold quality
kidney epithelium	UBERON:0004819	93.72	silver quality
skin of hip	UBERON:0001554	93.67	gold quality
calcaneal tendon	UBERON:0003701	93.66	gold quality
monocyte	CL:0000576	93.56	gold quality
leukocyte	CL:0000738	93.29	gold quality
nasal cavity epithelium	UBERON:0005384	93.16	gold quality
colonic mucosa	UBERON:0000317	92.92	gold quality
pigmented layer of retina	UBERON:0001782	92.88	gold quality
corpus epididymis	UBERON:0004359	92.88	gold quality
retina	UBERON:0000966	92.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.47	gold quality
stromal cell of endometrium	CL:0002255	92.47	gold quality
nasal cavity mucosa	UBERON:0001826	92.33	gold quality
upper leg skin	UBERON:0004262	91.96	gold quality
eye	UBERON:0000970	91.83	gold quality
rectum	UBERON:0001052	91.67	gold quality
palpebral conjunctiva	UBERON:0001812	91.49	gold quality
superficial temporal artery	UBERON:0001614	91.38	gold quality
upper arm skin	UBERON:0004263	91.36	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.32	gold quality
gall bladder	UBERON:0002110	91.28	gold quality
smooth muscle tissue	UBERON:0001135	91.19	gold quality
layer of synovial tissue	UBERON:0007616	91.15	gold quality
bone marrow	UBERON:0002371	91.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

157 targeting WDFY1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-9983-3P	99.94	71.48	3631

Literature-anchored findings (GeneRIF, showing 2)

• WDFY1 mediates TLR3/TLR4 signaling by recruiting TRIF. (PMID:25736436)
• NRP2 inhibits WDFY1 transcription by preventing the nuclear localization of a transcription factor, Fetal ALZ50-reactive clone 1 (FAC1). (PMID:27026195)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdfy1	ENSDARG00000005425
mus_musculus	Wdfy1	ENSMUSG00000073643
rattus_norvegicus	Wdfy1	ENSRNOG00000015080
drosophila_melanogaster	Stam	FBGN0027363
drosophila_melanogaster	Gga	FBGN0030141
drosophila_melanogaster	Wdfy2	FBGN0032246
drosophila_melanogaster	CG3529	FBGN0035995
caenorhabditis_elegans	stam-1	WBGENE00004109
caenorhabditis_elegans		WBGENE00008402
caenorhabditis_elegans		WBGENE00015561

Paralogs (10): GGA1 (ENSG00000100083), TOM1 (ENSG00000100284), GGA2 (ENSG00000103365), STAM2 (ENSG00000115145), GGA3 (ENSG00000125447), STAM (ENSG00000136738), WDFY2 (ENSG00000139668), TOM1L1 (ENSG00000141198), TOM1L2 (ENSG00000175662), HGS (ENSG00000185359)

Protein

Protein identifiers

WD repeat and FYVE domain-containing protein 1 — Q8IWB7 (reviewed: Q8IWB7)

Alternative names: FYVE domain-containing protein localized to endosomes 1, Phosphoinositide-binding protein 1, WD40- and FYVE domain-containing protein 1, Zinc finger FYVE domain-containing protein 17

All UniProt accessions (2): Q8IWB7, C9JJ54

UniProt curated annotations — full annotation on UniProt →

Function. Positively regulates TLR3- and TLR4-mediated signaling pathways by bridging the interaction between TLR3 or TLR4 and TICAM1. Promotes TLR3/4 ligand-induced activation of transcription factors IRF3 and NF-kappa-B, as well as the production of IFN-beta and inflammatory cytokines.

Subunit / interactions. Binds PtdIns3P in vitro with high specificity over other phosphoinositides. Interacts (via WD repeat 2) with tyrosine-phosphorylated TLR3 (via TIR domain) in response to poly(I:C). Interacts with TICAM1 in response to poly(I:C). Interacts with TLR4 in response to LPS.

Subcellular location. Early endosome.

Domain organisation. The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions. The FYVE domain is required for its function in regulating TLR3 signaling.

RefSeq proteins (1): NP_065881* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000306	Znf_FYVE	Domain
IPR001680	WD40_rpt	Repeat
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR017455	Znf_FYVE-rel	Domain
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR042234	WDFY1/WDFY2	Family
IPR042733	WDFY1_FYVE	Domain

Pfam: PF00400, PF01363

UniProt features (18 total): binding site 8, repeat 7, chain 1, modified residue 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWB7-F1	92.33	0.90

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 290; 314; 317; 322; 325; 344; 347; 287

Post-translational modifications (1): 408

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 188 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_DN, TGGTGCT_MIR29A_MIR29B_MIR29C, HORIUCHI_WTAP_TARGETS_DN, GGTGTGT_MIR329, GOBP_REGULATION_OF_TOLL_LIKE_RECEPTOR_4_SIGNALING_PATHWAY, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, SANSOM_APC_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (2): positive regulation of toll-like receptor 3 signaling pathway (GO:0034141), positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)

GO Molecular Function (4): 1-phosphatidylinositol binding (GO:0005545), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): nucleus (GO:0005634), nucleolus (GO:0005730), early endosome (GO:0005769), Golgi apparatus (GO:0005794), cytosol (GO:0005829), cell junction (GO:0030054), endosome (GO:0005768)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of pattern recognition receptor signaling pathway	2
intracellular membrane-bounded organelle	2
cytoplasm	2
endomembrane system	2
cellular anatomical structure	2
toll-like receptor 3 signaling pathway	1
regulation of toll-like receptor 3 signaling pathway	1
positive regulation of intracellular signal transduction	1
toll-like receptor 4 signaling pathway	1
regulation of toll-like receptor 4 signaling pathway	1
phospholipid binding	1
transition metal ion binding	1
binding	1
cation binding	1
nuclear lumen	1
intracellular membraneless organelle	1
endosome	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

2134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDFY1	TLR3	O15455	562
WDFY1	WDFY4	Q6ZS81	522
WDFY1	TLR4	O00206	511
WDFY1	ENTPD4	Q9Y227	470
WDFY1	PPP4C	P33172	443
WDFY1	NNT	Q13423	434
WDFY1	ATXN2L	Q8WWM7	425
WDFY1	RNPC3	Q96LT9	405
WDFY1	EFCAB7	A8K855	400
WDFY1	R3HDM4	Q96D70	384
WDFY1	TMEM221	A6NGB7	378
WDFY1	USP8	P40818	373
WDFY1	EEF1A2	P54266	370
WDFY1	NAALADL1	Q9UQQ1	367
WDFY1	FXR1	P51114	365

IntAct

52 interactions, top by confidence:

A	B	Type	Score
SEPTIN2	SEPTIN6	psi-mi:“MI:0914”(association)	0.950
SEPTIN11	SEPTIN6	psi-mi:“MI:0914”(association)	0.640
TMEM123	WDFY1	psi-mi:“MI:0915”(physical association)	0.590
S1PR2	PALM3	psi-mi:“MI:0914”(association)	0.530
CIAO3	INPPL1	psi-mi:“MI:0914”(association)	0.530
BMERB1	DCTN6	psi-mi:“MI:0914”(association)	0.530
STBD1	MID1	psi-mi:“MI:0914”(association)	0.530
GPR37	ATE1	psi-mi:“MI:0914”(association)	0.530
ATG14	CETN2	psi-mi:“MI:0914”(association)	0.530
GNG2	GNB5	psi-mi:“MI:0914”(association)	0.530
GOLM1	RAB19	psi-mi:“MI:0914”(association)	0.350
MYLIP	UBA6	psi-mi:“MI:0914”(association)	0.350
FAM219A	NBN	psi-mi:“MI:0914”(association)	0.350
WDFY1	HMMR	psi-mi:“MI:0914”(association)	0.350
CCDC88C	ALDH1L1	psi-mi:“MI:0914”(association)	0.350
EGR1	NES	psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
RAB11A	SCAMP1	psi-mi:“MI:0914”(association)	0.350
RAB7A	SCAMP3	psi-mi:“MI:0914”(association)	0.350
SCAMP1	SCAMP3	psi-mi:“MI:0914”(association)	0.350
SCAMP2	SCAMP1	psi-mi:“MI:0914”(association)	0.350
STX7	SCAMP1	psi-mi:“MI:0914”(association)	0.350
VAMP2	SNAP23	psi-mi:“MI:0914”(association)	0.350
VAMP3	SCAMP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (95): WDFY1 (Affinity Capture-MS), WDFY1 (Affinity Capture-MS), WDFY1 (Affinity Capture-MS), WDFY1 (Affinity Capture-MS), ALDOC (Co-fractionation), COX5B (Co-fractionation), EHD1 (Co-fractionation), FAHD2A (Co-fractionation), GDI1 (Co-fractionation), SNX1 (Co-fractionation), SNX2 (Co-fractionation), TPD52L2 (Co-fractionation), WDFY1 (Co-fractionation), WDFY1 (Co-fractionation), WDFY1 (Affinity Capture-Western)

ESM2 similar proteins: A0AUS0, A8XXC7, B3RQN1, B6K7R8, C5DF48, E9Q4P1, F4INY4, G5EEG7, O74453, O94394, P38123, P62883, P62884, Q18964, Q25306, Q2KIY3, Q2TAY7, Q2TBS9, Q38SD2, Q3EBD3, Q3MKM6, Q3UHC2, Q3UKJ7, Q5FVN8, Q5JTN6, Q5ZMC3, Q5ZME8, Q67UX0, Q6C953, Q6NRT3, Q6TNS2, Q76B40, Q7ZVA0, Q8BUB4, Q8H594, Q8IWB7, Q8N9V3, Q8SRB0, Q8W117, Q91WQ5

Diamond homologs: A0A0D1E015, A0JMD2, A1CEK1, A1DFN5, A1DFP5, A2QWA2, A3LX75, A4QTV1, A8QCE4, A8XJZ8, B0WAQ0, B3MT31, B3P851, B4G2G5, B4IC49, B4JHI7, B4K982, B4M140, B4NFJ7, B4PRU6, E9Q4P1, F4KAU9, O12940, O13821, O14964, O60784, O76902, O88746, P0CR78, P0CR79, P0CS26, P0CS27, P38817, P40343, P87157, Q0CJU8, Q0CJV3, Q0P4S0, Q0U4Z8, Q0U6X7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	WDFY1	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
RAC3 GTPase cycle	5	13.5×	8e-03

GO biological processes:

GO term	Partners	Fold	FDR
exocytosis	7	16.9×	8e-05
protein transport	8	5.6×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	59
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
426094	t(2;14)(q36.1;q12)	Pathogenic

SpliceAI

1726 predictions. Top by Δscore:

Variant	Effect	Δscore
2:223880228:TCCGA:T	acceptor_gain	1.0000
2:223880229:CCGA:C	acceptor_gain	1.0000
2:223880229:CCGAC:C	acceptor_gain	1.0000
2:223880230:CGA:C	acceptor_gain	1.0000
2:223880230:CGAC:C	acceptor_gain	1.0000
2:223880231:GA:G	acceptor_gain	1.0000
2:223880233:C:CC	acceptor_gain	1.0000
2:223880233:CTAA:C	acceptor_loss	1.0000
2:223881938:TCA:T	donor_loss	1.0000
2:223881939:CACTC:C	donor_loss	1.0000
2:223881940:A:AC	donor_gain	1.0000
2:223881940:ACT:A	donor_gain	1.0000
2:223881941:C:CA	donor_gain	1.0000
2:223881941:CT:C	donor_gain	1.0000
2:223881941:CTC:C	donor_gain	1.0000
2:223881941:CTCTT:C	donor_gain	1.0000
2:223882076:C:CT	acceptor_gain	1.0000
2:223882086:C:T	acceptor_gain	1.0000
2:223884646:A:AC	donor_gain	1.0000
2:223884647:C:CC	donor_gain	1.0000
2:223884647:CTT:C	donor_gain	1.0000
2:223884647:CTTGT:C	donor_gain	1.0000
2:223894230:TTA:T	donor_loss	1.0000
2:223894231:TACCT:T	donor_loss	1.0000
2:223894233:CCT:C	donor_gain	1.0000
2:223894337:TCA:T	acceptor_gain	1.0000
2:223894337:TCAC:T	acceptor_loss	1.0000
2:223894338:CA:C	acceptor_gain	1.0000
2:223894338:CAC:C	acceptor_gain	1.0000
2:223894339:ACTG:A	acceptor_loss	1.0000

AlphaMissense

2750 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:223878727:A:G	W393R	1.000
2:223878727:A:T	W393R	1.000
2:223881976:A:G	C344R	1.000
2:223882000:C:G	G336R	1.000
2:223882032:C:G	C325S	1.000
2:223882033:A:G	C325R	1.000
2:223882033:A:T	C325S	1.000
2:223882040:G:C	C322W	1.000
2:223882041:C:T	C322Y	1.000
2:223882042:A:G	C322R	1.000
2:223882053:C:A	G318V	1.000
2:223882053:C:T	G318E	1.000
2:223882062:C:A	R315M	1.000
2:223882062:C:G	R315T	1.000
2:223882064:G:C	C314W	1.000
2:223882065:C:G	C314S	1.000
2:223882065:C:T	C314Y	1.000
2:223882066:A:G	C314R	1.000
2:223882066:A:T	C314S	1.000
2:223882069:G:C	H313D	1.000
2:223882072:G:C	H312D	1.000
2:223884651:T:A	R310S	1.000
2:223884651:T:G	R310S	1.000
2:223884652:C:G	R310T	1.000
2:223884693:C:A	W296C	1.000
2:223884693:C:G	W296C	1.000
2:223884695:A:G	W296R	1.000
2:223884695:A:T	W296R	1.000
2:223884699:A:C	F294L	1.000
2:223884699:A:T	F294L	1.000

dbSNP variants (sampled 300 via entrez): RS1000000459 (2:223882296 G>T), RS1000028110 (2:223889278 G>C), RS1000033398 (2:223882603 T>C), RS1000045704 (2:223929221 C>A,T), RS1000070986 (2:223908575 G>A), RS1000183644 (2:223907650 C>T), RS1000259944 (2:223937477 G>C), RS1000272512 (2:223938836 G>A,C), RS1000302620 (2:223946026 C>T), RS1000344234 (2:223944011 G>A,T), RS1000353679 (2:223932531 G>C), RS1000363466 (2:223932295 T>C), RS1000379200 (2:223889049 G>T), RS1000500150 (2:223882645 A>C), RS1000523900 (2:223919671 G>C)

Disease associations

OMIM: gene MIM:618080 | disease phenotypes: MIM:613454

GenCC curated gene-disease

Mondo (1): FOXG1 disorder (MONDO:0100040)

Orphanet (3): Atypical Rett syndrome (Orphanet:3095), FOXG1 syndrome (Orphanet:561854), FOXG1 syndrome due to intragenic alteration (Orphanet:598164)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003542_31	Night sleep phenotypes	5.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	8
trichostatin A	affects cotreatment, decreases expression	3
bisphenol A	increases expression, decreases expression	2
Vorinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
methylmercuric chloride	decreases expression	1
decabromobiphenyl ether	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
gardiquimod	increases expression, decreases reaction	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, increases oxidation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Doxorubicin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07293546	PHASE1/PHASE2	NOT_YET_RECRUITING	Phase 1/2 Study of FRF-001, an AAV-9 Gene Therapy, in Patients With FOXG1 Syndrome (FS)
NCT02705677	Not specified	COMPLETED	Biobanking of Rett Syndrome and Related Disorders
NCT02738281	Not specified	COMPLETED	Natural History of Rett Syndrome & Related Disorders
NCT06938542	Not specified	ENROLLING_BY_INVITATION	Palliative Care Needs of Children With Rare Diseases and Their Families