ZNHIT3

Summary

ZNHIT3 (zinc finger HIT-type containing 3, HGNC:12309) is a protein-coding gene on chromosome 17q12, encoding Zinc finger HIT domain-containing protein 3 (Q15649). It is a selective cancer dependency (DepMap: 72.6% of cell lines).

Predicted to enable nuclear thyroid hormone receptor binding activity. Predicted to be involved in box C/D snoRNP assembly; maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); and snoRNA localization. Located in cytoplasm and nucleus. Implicated in PEHO syndrome.

Source: NCBI Gene 9326 — RefSeq curated summary.

At a glance

• Gene–disease (curated): PEHO syndrome (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 5
• Clinical variants (ClinVar): 55 total — 2 likely-pathogenic
• Phenotypes (HPO): 62
• Cancer dependency (DepMap): dependent in 72.6% of screened cell lines
• MANE Select transcript: NM_004773

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12309
Approved symbol	ZNHIT3
Name	zinc finger HIT-type containing 3
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	Hit1
Ensembl gene	ENSG00000273611
Ensembl biotype	protein_coding
OMIM	604500
Entrez	9326

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 7 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000612494, ENST00000612728, ENST00000616269, ENST00000617429, ENST00000617922, ENST00000619446, ENST00000619482, ENST00000619730, ENST00000620324, ENST00000620863, ENST00000622013, ENST00000622312, ENST00000929428

RefSeq mRNA: 4 — MANE Select: NM_004773 NM_001281432, NM_001281433, NM_001281434, NM_004773

CCDS: CCDS11312, CCDS62156

Canonical transcript exons

ENST00000617429 — 5 exons

Exon	Start	End
ENSE00003714420	36493926	36494006
ENSE00003725838	36486681	36486785
ENSE00003727390	36492813	36492899
ENSE00003733302	36486935	36486966
ENSE00003752212	36495223	36495822

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.6607 / max 250.4997, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160423	31.5144	1816
160422	3.1352	1424
160424	0.0111	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	95.98	gold quality
amygdala	UBERON:0001876	95.72	gold quality
temporal lobe	UBERON:0001871	95.66	gold quality
anterior cingulate cortex	UBERON:0009835	95.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.55	gold quality
nucleus accumbens	UBERON:0001882	95.50	gold quality
hypothalamus	UBERON:0001898	95.48	gold quality
cerebral cortex	UBERON:0000956	95.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.26	gold quality
Ammon’s horn	UBERON:0001954	95.21	gold quality
prefrontal cortex	UBERON:0000451	95.20	gold quality
right testis	UBERON:0004534	95.19	gold quality
right frontal lobe	UBERON:0002810	95.09	gold quality
frontal cortex	UBERON:0001870	95.08	gold quality
left testis	UBERON:0004533	95.07	gold quality
substantia nigra	UBERON:0002038	95.06	gold quality
ganglionic eminence	UBERON:0004023	94.93	gold quality
caudate nucleus	UBERON:0001873	94.84	gold quality
putamen	UBERON:0001874	94.84	gold quality
brain	UBERON:0000955	94.73	gold quality
cerebellar hemisphere	UBERON:0002245	94.64	gold quality
islet of Langerhans	UBERON:0000006	94.61	gold quality
cerebellar cortex	UBERON:0002129	94.61	gold quality
cerebellum	UBERON:0002037	94.58	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.49	gold quality
lymph node	UBERON:0000029	94.44	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.42	gold quality
superior frontal gyrus	UBERON:0002661	94.29	gold quality
testis	UBERON:0000473	94.27	gold quality
muscle of leg	UBERON:0001383	94.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.31
E-GEOD-100618	no	298.45

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A, THRA

miRNA regulators (miRDB)

37 targeting ZNHIT3, 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-4715-3P	99.98	66.03	670
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-6731-5P	99.28	67.42	2375

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 72.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• A high GYPC gene expression is associated with an unfavorable outcome, in contrast, a high TRIP3 gene expression is associated with a favorable outcome in childhood ALL. (PMID:19149918)
• Results identify TRIP3 as a novel regulator of PPARgamma-mediated adipocyte differentiation. (PMID:19596656)
• Results solve the structure of a complex resulting from interaction between protein fragments of human NUFIP1 and its cofactor ZNHIT3, and emphasize their imbrication. Also, it seems that the complexes involving NUFIP1, ZNHIT3, and SNU13 share strong structural similarities between human and yeast, suggesting that the initial steps of the box C/D snoRNP assembly process are conserved among species. (PMID:27594683)
• results suggest that loss-of-function missense mutation of znhit3 underlies PEHO syndrome. (PMID:28335020)
• Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. (PMID:38599276)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	znhit3	ENSDARG00000023950
mus_musculus	Znhit3	ENSMUSG00000020526
drosophila_melanogaster	CG8204	FBGN0034033

Protein

Protein identifiers

Zinc finger HIT domain-containing protein 3 — Q15649 (reviewed: Q15649)

Alternative names: HNF-4a coactivator, Thyroid hormone receptor interactor 3, Thyroid receptor-interacting protein 3

All UniProt accessions (7): Q15649, A0A087WTR0, A0A087WY42, A0A087WY54, A0A087WYI8, A0A087X045, A0A087X1G0

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Thyroid receptor interacting proteins (TRIPs) specifically interact with the ligand binding domain of the thyroid receptor (TR). Requires the presence of thyroid hormone for its interaction. Interacts with NUFIP1. Interacts (via HIT-type zinc finger) with the RUVBL1/RUVBL2 complex in the presence of ADP.

Subcellular location. Cytoplasm. Nucleus.

Disease relevance. PEHO syndrome (PEHO) [MIM:260565] An autosomal recessive syndrome characterized by progressive encephalopathy, lack of psychomotor development, severe intellectual disability, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal edema, and early death. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15649-1	1	yes
Q15649-2	2

RefSeq proteins (4): NP_001268361, NP_001268362, NP_001268363, NP_004764* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007529	Znf_HIT	Domain
IPR048371	ZNHIT3_C	Domain
IPR051639	BCD1	Family

Pfam: PF04438, PF21373

UniProt features (25 total): binding site 8, helix 6, turn 4, strand 2, chain 1, zinc finger region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2YQQ	SOLUTION NMR
5L85	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15649-F1	74.73	0.28

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): 11; 14; 22; 25; 30; 34; 38; 42

Post-translational modifications (1): 80

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 269 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_RIBOSOME_BIOGENESIS, GCM_NPM1, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, PUJANA_CHEK2_PCC_NETWORK, GCM_PSME1, GCM_PPP1CC, GOBP_MATURATION_OF_LSU_RRNA, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, SANSOM_APC_TARGETS_DN, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, MORF_AATF

GO Biological Process (3): maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), box C/D snoRNP assembly (GO:0000492), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): zinc ion binding (GO:0008270), nuclear thyroid hormone receptor binding (GO:0046966), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), pre-snoRNP complex (GO:0070761)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
maturation of LSU-rRNA	1
small nucleolar ribonucleoprotein complex assembly	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transition metal ion binding	1
nuclear receptor binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

826 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZNHIT3	NUFIP1	Q9UHK0	971
ZNHIT3	ZNHIT6	Q9NWK9	880
ZNHIT3	PIH1D1	Q9NWS0	798
ZNHIT3	SNU13	P55769	754
ZNHIT3	NOP58	Q9Y2X3	731
ZNHIT3	ZNHIT2	Q9UHR6	681
ZNHIT3	RPAP3	Q9H6T3	670
ZNHIT3	GGNBP2	Q9H3C7	662
ZNHIT3	TXNRD2	Q9NNW7	649
ZNHIT3	RUVBL1	P82276	648
ZNHIT3	MRM1	Q6IN84	648
ZNHIT3	PIGW	Q7Z7B1	642
ZNHIT3	INO80B	Q9C086	626
ZNHIT3	TADA2A	O75478	612
ZNHIT3	MYO19	Q96H55	601

IntAct

47 interactions, top by confidence:

A	B	Type	Score
RUVBL1	ZNHIT1	psi-mi:“MI:0914”(association)	0.860
NUFIP1	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.840
ZNHIT3	NUFIP1	psi-mi:“MI:0915”(physical association)	0.840
NUFIP1	ZNHIT3	psi-mi:“MI:0914”(association)	0.840
RUVBL1	POLR3A	psi-mi:“MI:0914”(association)	0.640
ESR1	TRIM24	psi-mi:“MI:0914”(association)	0.640
ZNF324B	ZNF316	psi-mi:“MI:0914”(association)	0.530
FBL	ZNF316	psi-mi:“MI:0914”(association)	0.530
NUFIP1	PDE2A	psi-mi:“MI:0914”(association)	0.530
Snu13		psi-mi:“MI:0915”(physical association)	0.400
MEIS2	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
PBX3	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
PITX2	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
XRCC3	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
ZNF24	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
FCMR	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
MBNL1	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
CSNK2A2	ZNHIT3	psi-mi:“MI:0915”(physical association)	0.370
Snw1	AKR7A2	psi-mi:“MI:0914”(association)	0.350
CKAP5	TACC3	psi-mi:“MI:0914”(association)	0.350
Ruvbl1	AAR2	psi-mi:“MI:0914”(association)	0.350
LLGL2	RBBP6	psi-mi:“MI:0914”(association)	0.350
Ercc6l	RPL17	psi-mi:“MI:0914”(association)	0.350
Erp44	MEN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (78): ZNHIT3 (Affinity Capture-RNA), ZNHIT3 (Reconstituted Complex), ZNHIT3 (Protein-peptide), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), HECTD1 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-MS), ZNHIT3 (Affinity Capture-Western)

ESM2 similar proteins: A2YEZ6, A2Z2J6, A3BDI8, A3C039, A9YUB1, D4A4T9, O49663, O76080, O94880, Q09818, Q0VBD2, Q15649, Q28E45, Q29RL2, Q2KI09, Q3EA33, Q4R7U2, Q5EAW4, Q5RD91, Q5RHY1, Q5ZML4, Q67YE6, Q69LE0, Q6H754, Q6H7P8, Q6NNI8, Q6NUA0, Q6Z541, Q7L590, Q7Y1W9, Q84PD8, Q852K5, Q852K6, Q8H0X0, Q8VEE1, Q942F8, Q94B40, Q9D1P4, Q9D4H9, Q9ERV1

Diamond homologs: Q15649, Q2KIH1, Q6UIM1, Q6UIM2, Q9CQK1, O36031

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	37
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3892944	NM_004773.4(ZNHIT3):c.41G>T (p.Cys14Phe)	Likely pathogenic
427725	NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu)	Likely pathogenic

SpliceAI

916 predictions. Top by Δscore:

Variant	Effect	Δscore
17:36486780:GCCCT:G	donor_gain	1.0000
17:36486786:G:GG	donor_gain	1.0000
17:36486795:G:GT	donor_gain	1.0000
17:36486795:G:T	donor_gain	1.0000
17:36492898:AG:A	donor_loss	1.0000
17:36492899:GGT:G	donor_loss	1.0000
17:36492900:G:C	donor_loss	1.0000
17:36492901:T:A	donor_loss	1.0000
17:36493924:A:AG	acceptor_gain	1.0000
17:36493925:G:GG	acceptor_gain	1.0000
17:36493925:GAT:G	acceptor_gain	1.0000
17:36494007:G:GG	donor_gain	1.0000
17:36496405:CC:C	acceptor_gain	1.0000
17:36496406:CC:C	acceptor_gain	1.0000
17:36499069:A:AC	donor_gain	1.0000
17:36499070:C:CC	donor_gain	1.0000
17:36499073:A:AC	donor_gain	1.0000
17:36499074:C:CC	donor_gain	1.0000
17:36499074:CT:C	donor_gain	1.0000
17:36499170:T:C	acceptor_gain	1.0000
17:36499170:T:TC	acceptor_gain	1.0000
17:36499175:C:CT	acceptor_gain	1.0000
17:36499175:C:T	acceptor_gain	1.0000
17:36499176:A:T	acceptor_gain	1.0000
17:36499181:C:CT	acceptor_gain	1.0000
17:36499182:A:T	acceptor_gain	1.0000
17:36486794:G:GT	donor_gain	0.9900
17:36486794:G:T	donor_gain	0.9900
17:36486966:GGTG:G	donor_loss	0.9900
17:36486967:G:GA	donor_loss	0.9900

AlphaMissense

1024 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:36495342:T:C	F136L	0.992
17:36495344:T:A	F136L	0.992
17:36495344:T:G	F136L	0.992
17:36495265:T:C	L110P	0.991
17:36493995:T:C	L92S	0.989
17:36495343:T:C	F136S	0.989
17:36495363:T:C	C143R	0.989
17:36495352:T:C	F139S	0.988
17:36495354:G:C	A140P	0.988
17:36486757:T:C	Y20H	0.987
17:36486948:T:C	C34R	0.987
17:36495250:T:C	L105S	0.987
17:36495343:T:G	F136C	0.987
17:36495365:T:G	C143W	0.987
17:36486763:T:C	C22R	0.986
17:36494004:T:C	L95S	0.986
17:36495265:T:A	L110H	0.985
17:36486730:T:C	C11R	0.983
17:36486936:T:C	C30R	0.982
17:36495329:G:A	M131I	0.982
17:36495329:G:C	M131I	0.982
17:36495329:G:T	M131I	0.982
17:36495364:G:A	C143Y	0.982
17:36495286:T:C	L117P	0.980
17:36493980:T:A	V87D	0.979
17:36495355:C:A	A140E	0.978
17:36486948:T:A	C34S	0.976
17:36486949:G:C	C34S	0.976
17:36495238:T:C	L101S	0.976
17:36486950:C:G	C34W	0.974

dbSNP variants (sampled 300 via entrez): RS1000168740 (17:36499644 T>C,G), RS1000208710 (17:36495475 C>A,G), RS1000656577 (17:36487875 G>A), RS1000722858 (17:36494298 T>G), RS1000811517 (17:36489772 G>A), RS1001392305 (17:36499520 G>A), RS1001536012 (17:36487027 C>G,T), RS1001547696 (17:36493101 G>A,T), RS1001615175 (17:36494359 G>A), RS1001779823 (17:36498732 A>G), RS1001815301 (17:36488641 C>A,T), RS1002222894 (17:36497363 G>C), RS1002547566 (17:36491596 T>C), RS1003112327 (17:36487776 G>A), RS1003163959 (17:36491772 A>G)

Disease associations

OMIM: gene MIM:604500 | disease phenotypes: MIM:260565

GenCC curated gene-disease

Disease	Classification	Inheritance
PEHO syndrome	Strong	Autosomal recessive
Mayer-Rokitansky-Kuster-Hauser syndrome	Limited	Autosomal dominant

Mondo (2): PEHO syndrome (MONDO:0009841), Mayer-Rokitansky-Kuster-Hauser syndrome (MONDO:0017771)

Orphanet (2): PEHO syndrome (Orphanet:2836), PEHO-like syndrome (Orphanet:99807)

HPO phenotypes

62 total (30 of 62 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000174	Abnormal palate morphology
HP:0000177	Abnormal upper lip morphology
HP:0000194	Open mouth
HP:0000212	Gingival overgrowth
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000253	Progressive microcephaly
HP:0000272	Malar flattening
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000293	Full cheeks
HP:0000341	Narrow forehead
HP:0000377	Abnormal pinna morphology
HP:0000400	Macrotia
HP:0000463	Anteverted nares
HP:0000496	Abnormality of eye movement
HP:0000572	Visual loss
HP:0000648	Optic atrophy
HP:0000969	Edema
HP:0001182	Tapered finger
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001290	Generalized hypotonia
HP:0001302	Pachygyria
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0001371	Flexion contracture
HP:0001376	Limitation of joint mobility

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004621_191	Red cell distribution width	4.000000e-13
GCST005951_15	Body mass index	3.000000e-13
GCST006804_73	Red cell distribution width	3.000000e-11
GCST009597_36	Multiple sclerosis	1.000000e-15
GCST90002404_160	Red cell distribution width	1.000000e-26

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009188	Red cell distribution width
EFO:0004340	body mass index

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536317	PEHO syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects binding, increases reaction	2
Cadmium Chloride	increases abundance, increases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects binding, affects folding, increases reaction	1
di-n-butylphosphoric acid	affects expression	1
bisphenol AF	affects binding, affects folding, increases reaction	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Valproic Acid	affects expression	1
Vanadates	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Metribolone	affects binding, affects folding, decreases reaction	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03277430	PHASE3	UNKNOWN	Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study
NCT01911884	Not specified	COMPLETED	Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome
NCT02967822	Not specified	RECRUITING	Molecular Genetic Study of Mayer-Rokitansky-Kuster-Hauser Syndrome
NCT03252795	Not specified	RECRUITING	Uterus Transplantation From a Multi-organ Donor
NCT03307356	Not specified	ACTIVE_NOT_RECRUITING	The University of Pennsylvania Uterus Transplant for Uterine Factor Infertility Trial
NCT03689842	Not specified	RECRUITING	Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH)
NCT04314869	Not specified	UNKNOWN	Uterus Transplantation Procedure From a Live Donor
NCT04923217	Not specified	COMPLETED	Quality of Life and Sexual Function in Vaginal Aplasia Patients After Davydov Procedure
NCT05263076	Not specified	RECRUITING	Uterine Transplant for Women With Absolute Uterine Factor Infertility (AUFI)
NCT05415540	Not specified	COMPLETED	Evolution of the Quality of Life and Experience of Young Women With Utero-vaginal Aplasia (MRKHPSY)
NCT05925361	Not specified	UNKNOWN	Peritoneum Vaginoplasty; Implementation According to IDEAL Framework
NCT06508151	Not specified	NOT_YET_RECRUITING	Neovaginoplasty Using Photoinduced-imine-crosslink Hydrogel in MRKH Patients
NCT07186764	Not specified	RECRUITING	Evaluation of the Quality of Life and Gynecological Follow-up of Patients Treated for Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome
NCT07321782	Not specified	NOT_YET_RECRUITING	Clinical and Imaging Features in MRKH Syndrome