BNC1

Summary

BNC1 (basonuclin zinc finger protein 1, HGNC:1081) is a protein-coding gene on chromosome 15q25.2, encoding Zinc finger protein basonuclin-1 (Q01954). Transcriptional activator.

This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging.

Source: NCBI Gene 646 — RefSeq curated summary.

At a glance

• Gene–disease (curated): premature ovarian failure 16 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 142 total — 1 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 28
• MANE Select transcript: NM_001717

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1081
Approved symbol	BNC1
Name	basonuclin zinc finger protein 1
Location	15q25.2
Locus type	gene with protein product
Status	Approved
Aliases	HsT19447, bn1, BSN1
Ensembl gene	ENSG00000169594
Ensembl biotype	protein_coding
OMIM	601930
Entrez	646

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000345382, ENST00000569704

RefSeq mRNA: 2 — MANE Select: NM_001717 NM_001301206, NM_001717

CCDS: CCDS10324, CCDS73771

Canonical transcript exons

ENST00000345382 — 5 exons

Exon	Start	End
ENSE00001159018	83262951	83264815
ENSE00001159024	83266836	83267071
ENSE00001159033	83268133	83268232
ENSE00001159040	83255884	83258126
ENSE00001159048	83284530	83284664

Expression profiles

Bgee: expression breadth ubiquitous, 117 present calls, max score 99.44.

FANTOM5 (CAGE): breadth broad, TPM avg 4.1834 / max 115.9136, expressed in 699 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
151322	3.4349	648
151321	0.3248	160
151323	0.2451	132
151324	0.1460	83
151318	0.0293	3
151319	0.0034	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
germinal epithelium of ovary	UBERON:0001304	99.44	gold quality
parietal pleura	UBERON:0002400	94.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.29	gold quality
hair follicle	UBERON:0002073	90.19	silver quality
gingival epithelium	UBERON:0001949	89.98	gold quality
gingiva	UBERON:0001828	89.52	gold quality
secondary oocyte	CL:0000655	87.99	gold quality
pleura	UBERON:0000977	84.69	gold quality
squamous epithelium	UBERON:0006914	84.46	gold quality
esophagus squamous epithelium	UBERON:0006920	82.49	gold quality
oocyte	CL:0000023	82.18	gold quality
left testis	UBERON:0004533	81.39	gold quality
esophagus mucosa	UBERON:0002469	81.14	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.97	gold quality
testis	UBERON:0000473	80.91	gold quality
right testis	UBERON:0004534	80.87	gold quality
cervix squamous epithelium	UBERON:0006922	80.71	silver quality
tongue squamous epithelium	UBERON:0006919	80.69	gold quality
epithelium of esophagus	UBERON:0001976	80.44	gold quality
skin of abdomen	UBERON:0001416	77.37	gold quality
sperm	CL:0000019	76.73	gold quality
zone of skin	UBERON:0000014	76.52	gold quality
male germ cell	CL:0000015	76.16	gold quality
pericardium	UBERON:0002407	76.02	gold quality
skin of leg	UBERON:0001511	75.93	gold quality
stromal cell of endometrium	CL:0002255	75.66	gold quality
omental fat pad	UBERON:0010414	75.58	gold quality
peritoneum	UBERON:0002358	75.49	gold quality
lower esophagus mucosa	UBERON:0035834	74.37	gold quality
upper leg skin	UBERON:0004262	74.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP63

miRNA regulators (miRDB)

82 targeting BNC1, 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-5692A	100.00	74.40	6850
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975

Literature-anchored findings (GeneRIF, showing 10)

• Data show that basonuclin (Bn)2 but not bn1 colocalizes with SC35 in nuclear speckles, and may have a function in nuclear processing of mRNA. (PMID:16891417)
• p63 induces the expression of the basal epithelial transcription factor, Basonuclin 1. (PMID:21741828)
• Study demonstrates that Bnc1 regulates epithelial plasticity of mammary epithelial cells and influences outcome of TGF-beta1 signaling. (PMID:24662832)
• Study shows that BNC1 expression was down-regulated in hepatocellular tumors and cell lines through its promotor hypermethylation. (PMID:26821013)
• A female mouse model of the human Bnc1 frameshift mutation exhibited infertility, significantly increased serum follicle-stimulating hormone, decreased ovary size and reduced follicle numbers, consistent with primary ovarian insufficiency (POI). Haploinsufficiency of BNC1 as an etiology of human autosomal dominant POI was reported. (PMID:30010909)
• Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis. (PMID:31065688)
• Cell heterogeneity is conserved in human epicardium, regulated by BNC1 and associated with cell fate and function. (PMID:31767620)
• Upregulation of Basonuclin1 Is Associated with p63-Involved Epithelial Barrier Impairment and Type-2 Helper T-cell Inflammation in Chronic Rhinosinusitis with Nasal Polyps. (PMID:34148047)
• Clinicopathological significance and underlying molecular mechanism of downregulation of basonuclin 1 expression in ovarian carcinoma. (PMID:34644201)
• BNC1 deficiency-triggered ferroptosis through the NF2-YAP pathway induces primary ovarian insufficiency. (PMID:36198708)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000100757
mus_musculus	Bnc1	ENSMUSG00000025105
rattus_norvegicus	Bnc1	ENSRNOG00000019770
drosophila_melanogaster	disco	FBGN0000459
drosophila_melanogaster	disco-r	FBGN0285879
caenorhabditis_elegans		WBGENE00044791

Paralogs (1): BNC2 (ENSG00000173068)

Protein

Protein identifiers

Zinc finger protein basonuclin-1 — Q01954 (reviewed: Q01954)

All UniProt accessions (2): F5GY04, Q01954

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator. It is likely involved in the regulation of keratinocytes terminal differentiation in squamous epithelia and hair follicles. Required for the maintenance of spermatogenesis. It is involved in the positive regulation of oocyte maturation, probably acting through the control of BMP15 levels and regulation of AKT signaling cascade. May also play a role in the early development of embryos.

Subunit / interactions. Interacts with HSF2BP (via C-terminus).

Subcellular location. Nucleus. Cytoplasm. Nucleoplasm.

Tissue specificity. In epidermis, primarily detected in cells of the basal or immediately suprabasal layers (at protein level). In hair follicles, mainly expressed in the outer root sheath (at protein level). Expressed in epidermis, testis and foreskin, and to a lower extent in thymus, spleen, mammary glands, placenta, brain and heart. Expressed in the ovary, notably in oocytes.

Post-translational modifications. Phosphorylation on Ser-537 and Ser-541 leads to cytoplasmic localization.

Disease relevance. Premature ovarian failure 16 (POF16) [MIM:618723] An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease may be caused by variants affecting the gene represented in this entry.

RefSeq proteins (2): NP_001288135, NP_001708* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR040436	Disconnected-like	Family

Pfam: PF00096, PF12874

UniProt features (32 total): region of interest 7, zinc finger region 6, mutagenesis site 5, sequence conflict 5, compositionally biased region 4, modified residue 2, chain 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01954-F1	54.85	0.08

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 (2): 537, 541

Mutagenesis-validated functional residues (5):

Position	Phenotype
537	no effect on phosphorylation. abolishes phosphorylation and induces nuclear restriction; when associated with a-541.
537	reduces phosphorylation and induces partial relocation into the cytoplasm.
540	no effect on phosphorylation, no effect on subcellular location.
541	strongly reduces phosphorylation. abolishes phosphorylation and induces nuclear restriction; when associated with a-537.
541	strongly reduces phosphorylation and induces partial relocation into the cytoplasm.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 204 (showing top): GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_CELL_MATURATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_OOGENESIS, GOBP_MALE_GAMETE_GENERATION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_CELL_MATURATION, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, GOTZMANN_EPITHELIAL_TO_MESENCHYMAL_TRANSITION_DN, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_OOCYTE_MATURATION, GOBP_OOCYTE_DIFFERENTIATION, GOBP_EPIDERMIS_DEVELOPMENT

GO Biological Process (7): regulation of transcription by RNA polymerase I (GO:0006356), spermatogenesis (GO:0007283), positive regulation of cell population proliferation (GO:0008284), epidermis development (GO:0008544), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of oocyte maturation (GO:1900195)

GO Molecular Function (5): rDNA binding (GO:0000182), DNA-binding transcription activator activity (GO:0001216), zinc ion binding (GO:0008270), DNA binding (GO:0003677), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), nuclear lumen (GO:0031981)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase I	2
positive regulation of DNA-templated transcription	2
nuclear lumen	2
cellular anatomical structure	2
regulation of DNA-templated transcription	1
developmental process involved in reproduction	1
male gamete generation	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
tissue development	1
cellular developmental process	1
regulation of transcription by RNA polymerase I	1
oocyte maturation	1
regulation of oocyte maturation	1
positive regulation of cell maturation	1
positive regulation of reproductive process	1
sequence-specific double-stranded DNA binding	1
transcription cis-regulatory region binding	1
DNA-binding transcription factor activity	1
transition metal ion binding	1
nucleic acid binding	1
cation binding	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
nucleus	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BNC1	SRSF2	Q01130	667
BNC1	SP1	P08047	549
BNC1	ESS2	Q96DF8	485
BNC1	TP63	Q9H3D4	443
BNC1	POLI	Q9UNA4	399
BNC1	IVL	P07476	381
BNC1	SFN	P31947	380
BNC1	UPK1B	O75841	371
BNC1	SEBOX	Q9HB31	352
BNC1	NLRP5	P59047	350
BNC1	TBX18	O95935	323
BNC1	ALDH1A2	O94788	316
BNC1	PADI6	Q6TGC4	316
BNC1	OOEP	A6NGQ2	305
BNC1	ZAR1	Q86SH2	300

IntAct

9 interactions, top by confidence:

A	B	Type	Score
NCL	BNC1	psi-mi:“MI:0915”(physical association)	0.400
IL17A	BNC1	psi-mi:“MI:0915”(physical association)	0.370
TNFSF4	BNC1	psi-mi:“MI:0915”(physical association)	0.370
XCL1	BNC1	psi-mi:“MI:0915”(physical association)	0.370
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
BNC1	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): BNC1 (Proximity Label-MS), BNC1 (Two-hybrid), BNC1 (Affinity Capture-Western), TRIM14 (Affinity Capture-MS), HBB (Affinity Capture-MS), POTEF (Affinity Capture-MS), NCL (Cross-Linking-MS (XL-MS)), BNC1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0A6YY25, A0A5K7RLP0, A6NMK8, A8MVX0, B2RQL2, B2RXH4, C9JSJ3, D2J0Y4, O54824, P97303, Q01954, Q05AH6, Q0VET5, Q14005, Q1W617, Q2YDE2, Q3MHT3, Q3U0P1, Q3ULM6, Q3UXL4, Q4R7L6, Q5RC05, Q5T0L3, Q68CR7, Q6GQV1, Q6NS69, Q6NZK5, Q6P1D7, Q6PG16, Q6ZVT6, Q7Z4V0, Q80W88, Q80XI1, Q811R2, Q86T90, Q86YN6, Q8BHP2, Q8BLK9, Q8BP99, Q8BW86

Diamond homologs: O35914, P23792, Q01954, Q1ZXU0, Q6ZN30, Q8BMQ3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PICK1	“up-regulates activity”	BNC1	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	125
Likely benign	8
Benign	3

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
800707	NM_001717.4(BNC1):c.1065_1069del (p.Arg356fs)	Pathogenic
2690982	NM_001717.4(BNC1):c.621_637del (p.Phe207fs)	Likely pathogenic
2690983	NM_001717.4(BNC1):c.1874_1875del (p.Pro625fs)	Likely pathogenic
929778	NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)	Likely pathogenic

SpliceAI

740 predictions. Top by Δscore:

Variant	Effect	Δscore
15:83266829:A:AC	donor_gain	1.0000
15:83266830:C:CC	donor_gain	1.0000
15:83266831:TGTA:T	donor_loss	1.0000
15:83266832:GTAC:G	donor_loss	1.0000
15:83266833:TACC:T	donor_loss	1.0000
15:83266834:A:AC	donor_gain	1.0000
15:83266834:ACCT:A	donor_loss	1.0000
15:83266835:C:CC	donor_gain	1.0000
15:83266835:C:G	donor_loss	1.0000
15:83266835:CCTG:C	donor_gain	1.0000
15:83266861:T:TA	donor_gain	1.0000
15:83267067:TAGAG:T	acceptor_gain	1.0000
15:83267069:GAG:G	acceptor_gain	1.0000
15:83267070:AGCT:A	acceptor_loss	1.0000
15:83267071:GCTG:G	acceptor_loss	1.0000
15:83267072:C:CC	acceptor_gain	1.0000
15:83267072:CTGA:C	acceptor_loss	1.0000
15:83267073:T:C	acceptor_loss	1.0000
15:83284525:CTTA:C	donor_loss	1.0000
15:83284526:TTACC:T	donor_loss	1.0000
15:83284527:TA:T	donor_loss	1.0000
15:83284528:A:T	donor_loss	1.0000
15:83284529:CCT:C	donor_gain	1.0000
15:83258127:C:CC	acceptor_gain	0.9900
15:83264814:TC:T	acceptor_gain	0.9900
15:83264815:CC:C	acceptor_gain	0.9900
15:83264815:CCTA:C	acceptor_loss	0.9900
15:83264816:C:G	acceptor_loss	0.9900
15:83264817:T:C	acceptor_loss	0.9900
15:83266830:CTGTA:C	donor_gain	0.9900

AlphaMissense

6672 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:83257555:A:G	C958R	1.000
15:83264036:A:C	H405Q	1.000
15:83264036:A:T	H405Q	1.000
15:83264038:G:C	H405D	1.000
15:83264040:C:G	R404P	1.000
15:83264041:G:C	R404G	1.000
15:83264041:G:T	R404S	1.000
15:83264042:A:C	N403K	1.000
15:83264042:A:T	N403K	1.000
15:83264046:C:G	R402P	1.000
15:83264048:G:C	S401R	1.000
15:83264048:G:T	S401R	1.000
15:83264050:T:G	S401R	1.000
15:83264051:C:A	R400S	1.000
15:83264051:C:G	R400S	1.000
15:83264052:C:A	R400M	1.000
15:83264052:C:G	R400T	1.000
15:83264058:G:A	S398F	1.000
15:83264060:G:C	S397R	1.000
15:83264060:G:T	S397R	1.000
15:83264062:T:G	S397R	1.000
15:83264063:G:C	F396L	1.000
15:83264063:G:T	F396L	1.000
15:83264064:A:C	F396C	1.000
15:83264064:A:G	F396S	1.000
15:83264065:A:C	F396V	1.000
15:83264065:A:G	F396L	1.000
15:83264065:A:T	F396I	1.000
15:83264075:A:C	C392W	1.000
15:83264076:C:A	C392F	1.000

dbSNP variants (sampled 300 via entrez): RS1000042757 (15:83279553 A>G), RS1000105403 (15:83284521 C>A,G), RS1000142976 (15:83284700 A>C,G,T), RS1000183539 (15:83285566 C>G), RS1000235871 (15:83285711 G>A), RS1000286304 (15:83261728 G>T), RS1000505234 (15:83274879 G>C), RS1000657902 (15:83281345 TAAAG>T), RS1000702847 (15:83275152 AC>A), RS1000729546 (15:83268897 A>G), RS1000745176 (15:83279098 T>C), RS1000980807 (15:83283877 G>A,C), RS1001112408 (15:83285479 C>G), RS1001192796 (15:83277348 C>G,T), RS1001392435 (15:83260184 A>G)

Disease associations

OMIM: gene MIM:601930 | disease phenotypes: MIM:618723, MIM:233300

GenCC curated gene-disease

Disease	Classification	Inheritance
premature ovarian failure 16	Strong	Autosomal dominant
46 XX gonadal dysgenesis	Supportive	Autosomal dominant

Mondo (3): premature ovarian failure 16 (MONDO:0032881), 46 XX gonadal dysgenesis (MONDO:0009299), primary ovarian failure (MONDO:0005387)

Orphanet (3): Male infertility with azoospermia or oligozoospermia due to single gene mutation (Orphanet:399805), 46,XX gonadal dysgenesis (Orphanet:243), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

28 total (28 of 28 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000062	Ambiguous genitalia
HP:0000133	Gonadal dysgenesis
HP:0000144	Decreased fertility
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000786	Primary amenorrhea
HP:0000823	Delayed puberty
HP:0000837	Increased circulating gonadotropin level
HP:0000869	Secondary amenorrhea
HP:0000938	Osteopenia
HP:0001166	Arachnodactyly
HP:0001251	Ataxia
HP:0001939	Abnormality of metabolism/homeostasis
HP:0002206	Pulmonary fibrosis
HP:0002225	Sparse pubic hair
HP:0002750	Delayed skeletal maturation
HP:0004322	Short stature
HP:0004349	Reduced bone mineral density
HP:0005625	Osteoporosis of vertebrae
HP:0008209	Premature ovarian insufficiency
HP:0008214	Decreased serum estradiol
HP:0008232	Elevated circulating follicle stimulating hormone level
HP:0008684	Aplasia/hypoplasia of the uterus
HP:0009888	Abnormality of secondary sexual hair
HP:0010311	Aplasia/Hypoplasia of the breasts
HP:0010464	Streak ovary
HP:0033085	Reduced antral follicle count

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D023961	Gonadal Dysgenesis, 46,XX	C12.050.351.875.253.064.249; C12.050.351.875.253.309.193; C12.200.706.316.064.249; C12.200.706.316.309.193; C12.800.316.064.249; C12.800.316.309.193; C16.131.939.316.064.249; C16.131.939.316.309.193; C19.391.119.064.249; C19.391.119.309.193
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750

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, increases expression, affects expression	7
bisphenol F	affects cotreatment, decreases methylation, increases expression	2
methylmercuric chloride	decreases expression, increases expression	2
arsenite	decreases reaction, decreases methylation, affects binding	2
sodium arsenite	increases abundance, increases expression, decreases expression, affects cotreatment	2
mercuric bromide	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
trichostatin A	increases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression, increases reaction	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	affects expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Ethanol	affects cotreatment, increases abundance, increases expression	1
Amphotericin B	increases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Cisplatin	decreases expression, increases reaction	1
Cytarabine	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Doxorubicin	affects response to substance	1
Formaldehyde	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists