DMRT3

Summary

DMRT3 (doublesex and mab-3 related transcription factor 3, HGNC:13909) is a protein-coding gene on chromosome 9p24.3, encoding Doublesex- and mab-3-related transcription factor 3 (Q9NQL9). Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates.

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in male sex differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including adult walking behavior; regulation of odontogenesis of dentin-containing tooth; and ventral spinal cord interneuron specification. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 58524 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 133 total — 2 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_021240

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13909
Approved symbol	DMRT3
Name	doublesex and mab-3 related transcription factor 3
Location	9p24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000064218
Ensembl biotype	protein_coding
OMIM	614754
Entrez	58524

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000190165, ENST00000417254, ENST00000905222

RefSeq mRNA: 1 — MANE Select: NM_021240 NM_021240

CCDS: CCDS6443

Canonical transcript exons

ENST00000190165 — 2 exons

Exon	Start	End
ENSE00000681863	990041	991732
ENSE00001121341	976655	977455

Expression profiles

Bgee: expression breadth ubiquitous, 103 present calls, max score 86.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7132 / max 130.5502, expressed in 121 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95815	0.3479	79
95816	0.2982	82
95817	0.0670	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.40	gold quality
mucosa of paranasal sinus	UBERON:0005030	83.39	gold quality
bronchial epithelial cell	CL:0002328	78.73	gold quality
bronchus	UBERON:0002185	77.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	76.90	gold quality
right testis	UBERON:0004534	76.62	gold quality
left testis	UBERON:0004533	74.74	gold quality
ventricular zone	UBERON:0003053	74.19	gold quality
testis	UBERON:0000473	73.13	gold quality
right lobe of thyroid gland	UBERON:0001119	71.75	gold quality
left lobe of thyroid gland	UBERON:0001120	70.06	gold quality
thyroid gland	UBERON:0002046	69.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.50	gold quality
subcutaneous adipose tissue	UBERON:0002190	67.35	gold quality
nasal cavity mucosa	UBERON:0001826	66.43	gold quality
nasal cavity epithelium	UBERON:0005384	62.60	gold quality
lymph node	UBERON:0000029	62.00	gold quality
parietal pleura	UBERON:0002400	59.32	silver quality
cerebellar vermis	UBERON:0004720	58.46	gold quality
hindlimb stylopod muscle	UBERON:0004252	58.19	gold quality
adipose tissue	UBERON:0001013	58.18	gold quality
ganglionic eminence	UBERON:0004023	58.02	gold quality
gastrocnemius	UBERON:0001388	57.36	gold quality
muscle of leg	UBERON:0001383	57.06	gold quality
palpebral conjunctiva	UBERON:0001812	56.98	silver quality
tibia	UBERON:0000979	55.94	silver quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.33

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

Target	Regulation
PRM2
WNT8B

JASPAR motifs

Motif	Name	Family
MA0610.1	DMRT3	DMRT factors
MA0610.2	DMRT3	DMRT factors

JASPAR matrix evidence (PMIDs): PMID:17605809

miRNA regulators (miRDB)

92 targeting DMRT3, 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-6873-3P	100.00	71.42	2626
HSA-MIR-513A-5P	100.00	69.77	2465
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-7110-3P	100.00	73.18	2486
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-12133	99.92	71.82	2006

Literature-anchored findings (GeneRIF, showing 4)

• Chromosome 9p loss is the hallmark of squamous cell carcinoma, and DMRT1, DMRT3 and DOCK8 genes at 9p24.3 might be of interest for the study of the pathophysiology of SCC as potential targets for therapeutic measures. (PMID:20596660)
• Thus, the deletion of the cis-regulatory element for DMRT3 in humans may cause impaired development of the forebrain and gait abnormalities, resulting in spastic CP. In conclusion, this study provides new mechanistic insights into the genetic basis of CP. (PMID:29305858)
• Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression. (PMID:32553473)
• Transcriptome Analysis Identifies Doublesex and Mab-3 Related Transcription Factor (DMRT3) in Nasal Polyp Epithelial Cells of Patients Suffering from Non-Steroidal Anti-Inflammatory Drug-Exacerbated Respiratory Disease (AERD). (PMID:34439758)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dmrt3a	ENSDARG00000035290
mus_musculus	Dmrt3	ENSMUSG00000042372
rattus_norvegicus	Dmrt3	ENSRNOG00000016284
caenorhabditis_elegans		WBGENE00019521
caenorhabditis_elegans		WBGENE00022060

Paralogs (8): DMRT1 (ENSG00000137090), DMRTC2 (ENSG00000142025), DMRTA2 (ENSG00000142700), DMRTB1 (ENSG00000143006), DMRT2 (ENSG00000173253), DMRTA1 (ENSG00000176399), DMRTC1B (ENSG00000184911), DMRTC1 (ENSG00000269502)

Protein

Protein identifiers

Doublesex- and mab-3-related transcription factor 3 — Q9NQL9 (reviewed: Q9NQL9)

All UniProt accessions (2): Q9NQL9, Q5W0Z5

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development.

Subunit / interactions. May homodimerize.

Subcellular location. Nucleus.

Tissue specificity. Expressed in testis.

Domain organisation. DMA domain interacts with ubiquitin.

Miscellaneous. DMRT3 is a marker for a subset of spinal cord neurons (dI6).

Similarity. Belongs to the DMRT family.

RefSeq proteins (1): NP_067063* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001275	DM_DNA-bd	Domain
IPR005173	DMA	Domain
IPR009060	UBA-like_sf	Homologous_superfamily
IPR026607	DMRT	Family
IPR036407	DM_DNA-bd_sf	Homologous_superfamily

Pfam: PF00751, PF03474

UniProt features (11 total): sequence variant 3, region of interest 3, compositionally biased region 2, chain 1, domain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQL9-F1	57.72	0.17

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 113 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_BEHAVIOR, GOBP_ADULT_BEHAVIOR, GOBP_NEUROGENESIS, TAKADA_GASTRIC_CANCER_COPY_NUMBER_DN, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, CTCTAGA_MIR526C_MIR518F_MIR526A, GOBP_VENTRAL_SPINAL_CORD_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_NEURON_FATE_SPECIFICATION, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_SPINAL_CORD_PATTERNING

GO Biological Process (10): regulation of transcription by RNA polymerase II (GO:0006357), sex differentiation (GO:0007548), adult walking behavior (GO:0007628), adult locomotory behavior (GO:0008344), transmission of nerve impulse (GO:0019226), ventral spinal cord interneuron specification (GO:0021521), regulation of odontogenesis of dentin-containing tooth (GO:0042487), male sex differentiation (GO:0046661), regulation of DNA-templated transcription (GO:0006355), cell differentiation (GO:0030154)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
developmental process involved in reproduction	1
adult locomotory behavior	1
walking behavior	1
locomotory behavior	1
adult behavior	1
action potential	1
cell communication	1
chemical synaptic transmission	1
nervous system process	1
neuron fate specification	1
cell fate specification involved in pattern specification	1
ventral spinal cord interneuron fate commitment	1
odontogenesis of dentin-containing tooth	1
regulation of odontogenesis	1
multicellular organism development	1
sex differentiation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cellular developmental process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
cation binding	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
nucleic acid binding	1
binding	1
DNA binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1060 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMRT3	DMRT2	Q9Y5R5	534
DMRT3	FOXD4	Q12950	527
DMRT3	KANK1	Q14678	513
DMRT3	HLTF	Q14527	480
DMRT3	TEX53	A0A1B0GU33	478
DMRT3	AKR1E2	Q96JD6	478
DMRT3	EMX2	Q04743	472
DMRT3	FOXL2	P58012	458
DMRT3	AMZ1	Q400G9	457
DMRT3	NKAIN4	Q8IVV8	456
DMRT3	DOCK8	Q8NF50	448
DMRT3	CCDC57	Q2TAC2	438
DMRT3	STK31	Q9BXU1	438
DMRT3	FASTKD3	Q14CZ7	437
DMRT3	MEGF11	A6BM72	427
DMRT3	LMX1B	O60663	427

IntAct

286 interactions, top by confidence:

A	B	Type	Score
TRIM27	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-9	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
INCA1	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
KRT31	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	KRT40	psi-mi:“MI:0915”(physical association)	0.720
SAT1	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	MDFI	psi-mi:“MI:0915”(physical association)	0.720
MID2	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	TRIM27	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	INCA1	psi-mi:“MI:0915”(physical association)	0.720
KRT40	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	SAT1	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	MID2	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	KRTAP10-9	psi-mi:“MI:0915”(physical association)	0.720
DMRT3	KRT31	psi-mi:“MI:0915”(physical association)	0.720
MDFI	DMRT3	psi-mi:“MI:0915”(physical association)	0.720
UBASH3B	DMRT3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (102): DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid), DMRT3 (Two-hybrid)

ESM2 similar proteins: A2A9I7, A7X8C7, A7X8C9, A7XW16, C7EMF5, F6W2R2, O15054, O43151, O43474, O55087, O62651, O94993, P08151, P0DPQ3, P10284, P17483, P31259, P31276, P47806, P52947, P86478, P86479, P86480, P86481, P86496, Q00175, Q08DG5, Q0P670, Q1KKY2, Q5NCY0, Q5ND04, Q5SSZ7, Q60793, Q63449, Q6NZN1, Q6XP49, Q801F8, Q80WT2, Q8BG36, Q8BG87

Diamond homologs: A2A9A2, A2A9I7, A4QNP7, A6QQ94, A8TSS9, B0I1G7, B7ZS42, C0LZJ1, D4A218, F6W2R2, G5EEJ1, J7FCF0, O18214, P23023, P57690, P83758, P85119, Q18248, Q19291, Q2I327, Q2MJB4, Q32LE6, Q3LH63, Q4AE28, Q5UU75, Q5VZB9, Q6YHU8, Q71MM5, Q76L87, Q801F8, Q80WT2, Q8BG36, Q8CFG4, Q8CGW9, Q8IXT2, Q8JIR6, Q90WM5, Q96MA1, Q96SC8, Q9DFI0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 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
Keratinization	22	25.0×	7e-24
Formation of the cornified envelope	6	10.8×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	6	34.4×	6e-06
intermediate filament organization	6	24.1×	3e-05
epithelial cell differentiation	6	17.6×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	104
Likely benign	12
Benign	7

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
59837	GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3	Pathogenic
815205	GRCh37/hg19 9p24.3(chr9:894913-1138636)x1	Pathogenic
929761	NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser)	Likely pathogenic

SpliceAI

377 predictions. Top by Δscore:

Variant	Effect	Δscore
9:977451:GCCAG:G	donor_gain	1.0000
9:977454:AGGTA:A	donor_loss	1.0000
9:977455:GGTA:G	donor_loss	1.0000
9:977456:GTAAG:G	donor_loss	1.0000
9:990037:CCA:C	acceptor_loss	1.0000
9:990039:A:AG	acceptor_gain	1.0000
9:990039:AGAT:A	acceptor_loss	1.0000
9:990040:G:GT	acceptor_gain	1.0000
9:990040:GA:G	acceptor_gain	1.0000
9:990040:GAT:G	acceptor_gain	1.0000
9:990040:GATT:G	acceptor_gain	1.0000
9:990040:GATTT:G	acceptor_gain	1.0000
9:977456:G:GG	donor_gain	0.9900
9:990037:CCAGA:C	acceptor_gain	0.9900
9:990036:TCCAG:T	acceptor_gain	0.9800
9:990038:CAGA:C	acceptor_gain	0.9800
9:990039:AGA:A	acceptor_gain	0.9700
9:980241:GTTTT:G	donor_gain	0.9600
9:980512:C:G	donor_gain	0.9600
9:980214:G:GT	donor_gain	0.9400
9:990040:G:T	acceptor_gain	0.9300
9:977730:TTG:T	donor_gain	0.9200
9:977705:C:A	donor_gain	0.9100
9:990031:T:TA	acceptor_gain	0.8900
9:978555:AGAC:A	acceptor_gain	0.8700
9:978556:GACG:G	acceptor_gain	0.8700
9:980242:T:G	donor_gain	0.8400
9:977454:AG:A	donor_gain	0.8300
9:977455:GG:G	donor_gain	0.8300
9:990032:GTTTT:G	acceptor_gain	0.8200

AlphaMissense

3042 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:977074:C:A	R25S	1.000
9:977074:C:T	R25C	1.000
9:977080:C:T	P27S	1.000
9:977081:C:A	P27H	1.000
9:977081:C:T	P27L	1.000
9:977083:A:G	K28E	1.000
9:977085:G:C	K28N	1.000
9:977085:G:T	K28N	1.000
9:977086:T:A	C29S	1.000
9:977086:T:C	C29R	1.000
9:977087:G:A	C29Y	1.000
9:977087:G:C	C29S	1.000
9:977087:G:T	C29F	1.000
9:977088:C:G	C29W	1.000
9:977092:C:A	R31S	1.000
9:977092:C:G	R31G	1.000
9:977092:C:T	R31C	1.000
9:977093:G:A	R31H	1.000
9:977095:T:A	C32S	1.000
9:977095:T:C	C32R	1.000
9:977096:G:A	C32Y	1.000
9:977096:G:C	C32S	1.000
9:977096:G:T	C32F	1.000
9:977097:C:G	C32W	1.000
9:977098:C:A	R33S	1.000
9:977098:C:G	R33G	1.000
9:977098:C:T	R33C	1.000
9:977099:G:A	R33H	1.000
9:977099:G:C	R33P	1.000
9:977099:G:T	R33L	1.000

dbSNP variants (sampled 300 via entrez): RS1000030827 (9:985106 T>A), RS1000032325 (9:991151 C>T), RS1000180887 (9:989506 C>T), RS1000232200 (9:979988 G>A), RS1000237282 (9:976763 A>C), RS1000576992 (9:986431 C>A,G), RS1000675449 (9:976922 C>G), RS1000700040 (9:989235 G>A), RS1000833710 (9:975519 T>G), RS1001053977 (9:975702 T>C), RS1001301562 (9:984291 A>T), RS1001348600 (9:981011 G>A), RS1001403935 (9:979410 T>A,C), RS1001464207 (9:977401 C>T), RS1001585706 (9:984468 T>A,C)

Disease associations

OMIM: gene MIM:614754 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): primary ovarian failure (MONDO:0005387)

Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001850_29	Major depressive disorder	4.000000e-06
GCST002749_3	Response to Homoharringtonine (cytotoxicity)	7.000000e-07
GCST003542_195	Night sleep phenotypes	4.000000e-06
GCST003542_8	Night sleep phenotypes	3.000000e-08
GCST004858_13	Dupuytren’s disease	4.000000e-26
GCST009391_219	Metabolite levels	9.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006952	cytotoxicity measurement
EFO:0004229	Dupuytren Contracture

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
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

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, increases methylation	6
trichostatin A	affects cotreatment, decreases expression	3
entinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
arsenite	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	decreases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Tobacco Smoke Pollution	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