PNPLA7

Summary

PNPLA7 (patatin like domain 7, lysophospholipase, HGNC:24768) is a protein-coding gene on chromosome 9q34.3, encoding Patatin-like phospholipase domain-containing protein 7 (Q6ZV29). Lysophospholipase which preferentially deacylates unsaturated lysophosphatidylcholine (C18:1), generating glycerophosphocholine.

Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).

Source: NCBI Gene 375775 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 305 total — 1 pathogenic
• MANE Select transcript: NM_001098537

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24768
Approved symbol	PNPLA7
Name	patatin like domain 7, lysophospholipase
Location	9q34.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1
Ensembl gene	ENSG00000130653
Ensembl biotype	protein_coding
OMIM	612122
Entrez	375775

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000277531, ENST00000406427, ENST00000434090, ENST00000469998, ENST00000487228, ENST00000491019, ENST00000492278, ENST00000882823, ENST00000882824, ENST00000946237, ENST00000946238, ENST00000946239

RefSeq mRNA: 2 — MANE Select: NM_001098537 NM_001098537, NM_152286

CCDS: CCDS48070, CCDS7045

Canonical transcript exons

ENST00000406427 — 35 exons

Exon	Start	End
ENSE00001632700	137547585	137547659
ENSE00001702376	137515379	137515519
ENSE00002243053	137550168	137550402
ENSE00003552023	137467317	137467473
ENSE00003562030	137462685	137462833
ENSE00003625081	137462179	137462331
ENSE00003632418	137461931	137462041
ENSE00003641880	137463415	137463531
ENSE00003712640	137519917	137520043
ENSE00003712792	137542642	137542801
ENSE00003714463	137540642	137540722
ENSE00003716436	137521636	137521716
ENSE00003722033	137522729	137522857
ENSE00003734544	137543432	137543572
ENSE00003743310	137543724	137543815
ENSE00003746608	137546830	137546909
ENSE00003751818	137547309	137547396
ENSE00003847419	137459952	137460476
ENSE00003888834	137464340	137464456
ENSE00003889317	137479056	137479238
ENSE00003889903	137480312	137480480
ENSE00003890621	137464126	137464195
ENSE00003891286	137497187	137497310
ENSE00003891737	137478034	137478152
ENSE00003891835	137505983	137506083
ENSE00003892761	137498114	137498245
ENSE00003893027	137500691	137500896
ENSE00003893138	137495033	137495146
ENSE00003893193	137460634	137460737
ENSE00003893725	137493013	137493082
ENSE00003894029	137484587	137484736
ENSE00003894224	137505614	137505760
ENSE00003894584	137480960	137481023
ENSE00003895616	137501650	137501727
ENSE00003896148	137461536	137461620

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 89.31.

FANTOM5 (CAGE): breadth broad, TPM avg 1.4875 / max 54.2742, expressed in 464 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103380	1.0065	385
103381	0.4810	249

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	89.31	gold quality
body of pancreas	UBERON:0001150	88.77	gold quality
apex of heart	UBERON:0002098	88.64	gold quality
body of stomach	UBERON:0001161	88.39	gold quality
right uterine tube	UBERON:0001302	88.22	gold quality
skin of abdomen	UBERON:0001416	87.87	gold quality
right ovary	UBERON:0002118	87.75	gold quality
skin of leg	UBERON:0001511	87.60	gold quality
left lobe of thyroid gland	UBERON:0001120	87.43	gold quality
mucosa of stomach	UBERON:0001199	87.35	gold quality
right lobe of thyroid gland	UBERON:0001119	87.17	gold quality
gastrocnemius	UBERON:0001388	86.85	gold quality
right lobe of liver	UBERON:0001114	86.64	gold quality
muscle of leg	UBERON:0001383	86.18	gold quality
endocervix	UBERON:0000458	85.97	gold quality
thyroid gland	UBERON:0002046	85.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.68	gold quality
right frontal lobe	UBERON:0002810	85.58	gold quality
minor salivary gland	UBERON:0001830	85.44	gold quality
zone of skin	UBERON:0000014	84.68	gold quality
body of uterus	UBERON:0009853	84.66	gold quality
fundus of stomach	UBERON:0001160	84.57	gold quality
right coronary artery	UBERON:0001625	84.51	gold quality
prostate gland	UBERON:0002367	84.24	gold quality
stomach	UBERON:0000945	84.01	gold quality
sural nerve	UBERON:0015488	83.89	gold quality
transverse colon	UBERON:0001157	83.81	gold quality
adenohypophysis	UBERON:0002196	83.67	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.45	gold quality
nucleus accumbens	UBERON:0001882	83.15	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting PNPLA7, 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-513A-5P	100.00	69.77	2465
HSA-MIR-6798-5P	100.00	65.77	699
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-4690-5P	99.65	66.24	813
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-328-5P	99.08	64.65	1000
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-6885-5P	98.71	64.33	902
HSA-MIR-3158-3P	98.45	64.25	560
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-3127-5P	97.52	65.24	786
HSA-MIR-3918	96.13	64.65	1300

Literature-anchored findings (GeneRIF, showing 6)

• We explored Single Nucleotide Polymorphism in the PNPLA7 gene on chromosome 9 and investigated their correlation with the susceptibility to menstrual disorder. (PMID:25867316)
• PNPLA7 acts as an endoplasmic reticulum -anchored lysophosphatidylcholine hydrolase that is composed of specific functional domains mediating catalytic activity, subcellular positioning, and interactions with cellular organelles. (PMID:28887301)
• The Patatin-Like Phospholipase Domain Containing Protein 7 Facilitates VLDL Secretion by Modulating ApoE Stability. (PMID:32103509)
• The Patatin-Like Phospholipase Domain Containing Protein 7 Regulates Macrophage Classical Activation through SIRT1/NF-kappaB and p38 MAPK Pathways. (PMID:36499308)
• The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism. (PMID:36979406)
• The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers. (PMID:37861523)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pnpla7b	ENSDARG00000040002
danio_rerio	pnpla7a	ENSDARG00000062986
mus_musculus	Pnpla7	ENSMUSG00000036833
rattus_norvegicus	Pnpla7	ENSRNOG00000008190
drosophila_melanogaster	sws	FBGN0003656
caenorhabditis_elegans		WBGENE00022718

Paralogs (1): PNPLA6 (ENSG00000032444)

Protein

Protein identifiers

Patatin-like phospholipase domain-containing protein 7 — Q6ZV29 (reviewed: Q6ZV29)

All UniProt accessions (2): Q6ZV29, F2Z2D4

UniProt curated annotations — full annotation on UniProt →

Function. Lysophospholipase which preferentially deacylates unsaturated lysophosphatidylcholine (C18:1), generating glycerophosphocholine. Also can deacylate, to a lesser extent, lysophosphatidylethanolamine (C18:1), lysophosphatidyl-L-serine (C18:1) and lysophosphatidic acid (C16:0).

Subcellular location. Endoplasmic reticulum membrane. Lipid droplet.

Domain organisation. The 3 cNMP binding domains are required for localization to the endoplasmic reticulum. The cNMP binding domain 3 is involved in the binding to lipid droplets.

Similarity. Belongs to the NTE family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q6ZV29-1	1	yes
Q6ZV29-2	2
Q6ZV29-3	3
Q6ZV29-4	4
Q6ZV29-5	5

RefSeq proteins (2): NP_001092007, NP_689499 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000595	cNMP-bd_dom	Domain
IPR002641	PNPLA_dom	Domain
IPR014710	RmlC-like_jellyroll	Homologous_superfamily
IPR016035	Acyl_Trfase/lysoPLipase	Homologous_superfamily
IPR018490	cNMP-bd_dom_sf	Homologous_superfamily
IPR050301	NTE	Family
IPR056556	NTE1_P-loop_dom	Domain

Pfam: PF00027, PF01734, PF24179

Catalyzed reactions (Rhea), 6 shown:

• a 1-acyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + a fatty acid + H(+) (RHEA:15177)
• 1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + hexadecanoate + H(+) (RHEA:40435)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = sn-glycero-3-phospho-L-serine + (9Z)-octadecenoate + H(+) (RHEA:40499)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = sn-glycerol 3-phosphocholine + (9Z)-octadecenoate + H(+) (RHEA:40807)
• 1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = sn-glycero-3-phosphoethanolamine + (9Z)-octadecenoate + H(+) (RHEA:40895)
• 1-hexadecanoyl-sn-glycero-3-phosphate + H2O = sn-glycerol 3-phosphate + hexadecanoate + H(+) (RHEA:49092)

UniProt features (49 total): sequence variant 11, sequence conflict 11, splice variant 6, region of interest 4, short sequence motif 3, binding site 3, modified residue 3, topological domain 2, active site 2, chain 1, compositionally biased region 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZV29-F1	71.39	0.21

Functional residue map

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

Catalytic / active sites (2): 961 (nucleophile); 1081 (proton acceptor)

Ligand- & substrate-binding residues (3): 145–272; 458–563; 591–696

Post-translational modifications (3): 355, 1258, 1262

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6814848	Glycerophospholipid catabolism

MSigDB gene sets: 154 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP, ROZANOV_MMP14_TARGETS_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_ORGANOPHOSPHATE_CATABOLIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_GLYCEROPHOSPHOLIPID_CATABOLIC_PROCESS, GOBP_GLYCEROLIPID_CATABOLIC_PROCESS, GOBP_LIPID_CATABOLIC_PROCESS, GOBP_PHOSPHOLIPID_CATABOLIC_PROCESS, MILI_PSEUDOPODIA_CHEMOTAXIS_DN

GO Biological Process (3): phosphatidylcholine catabolic process (GO:0034638), lipid metabolic process (GO:0006629), lipid catabolic process (GO:0016042)

GO Molecular Function (2): phosphatidylcholine lysophospholipase A1 activity (GO:0004622), hydrolase activity (GO:0016787)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), lipid droplet (GO:0005811), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
PI Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phosphatidylcholine metabolic process	1
glycerophospholipid catabolic process	1
primary metabolic process	1
lipid metabolic process	1
catabolic process	1
lysophospholipase A1 activity	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular membraneless organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1536 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PNPLA7	CALM1	P02593	575
PNPLA7	PNPLA8	Q9NP80	547
PNPLA7	PNPLA1	Q8N8W4	531
PNPLA7	PNPLA2	Q96AD5	418
PNPLA7	CHPT1	Q8WUD6	395
PNPLA7	PNPLA5	Q7Z6Z6	383
PNPLA7	PLA2G12B	Q9BX93	376
PNPLA7	DRAP1	Q14919	375
PNPLA7	PLA2G4F	Q68DD2	370
PNPLA7	PLA2G4E	Q3MJ16	366
PNPLA7	CYP4F22	Q6NT55	362
PNPLA7	PLA2G4C	Q9UP65	348
PNPLA7	ABHD6	Q9BV23	341
PNPLA7	ABHD12	Q8N2K0	341
PNPLA7	ABHD5	Q8WTS1	336

IntAct

3 interactions, top by confidence:

A	B	Type	Score
PNPLA7	CENPB	psi-mi:“MI:0914”(association)	0.350
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): RNF14 (Affinity Capture-Western), PNPLA7 (Affinity Capture-Western), PNPLA7 (Affinity Capture-RNA), HSPA8 (Affinity Capture-MS), SUN2 (Affinity Capture-MS), CENPB (Affinity Capture-MS), PNPLA6 (Affinity Capture-MS), PNPLA7 (Affinity Capture-MS), PNPLA7 (Cross-Linking-MS (XL-MS)), PNPLA7 (Affinity Capture-MS), PNPLA7 (Affinity Capture-RNA)

ESM2 similar proteins: A0A0D4BSN8, A0A1C5G2V9, A0A4R2TZQ0, A0A4V2JTK3, A2AJ88, A2WYE9, B3NY03, B4IL64, B4L535, B4M709, B4Q0P3, D2NS11, O04932, O22060, O52703, P0AE12, P0AE13, P0DV40, P31927, P31928, P48340, P49031, P54139, P55382, P65010, P69185, P69186, P84740, P84741, P84742, P84743, P9WL94, P9WL95, P9WL98, P9WL99, Q02331, Q0JGK4, Q43845, Q43876, Q5BK26

Diamond homologs: A1C9L6, A1D9Y2, A2AJ88, A2R350, A3LYZ4, A4QVZ8, A5DHA3, A5E708, B3MRI9, B3NY03, B4H3U8, B4IL64, B4JLX2, B4L535, B4M709, B4N1W9, B4Q0P3, B5DKS8, P0AFR0, P0AFR1, P0CP36, P0CP37, Q02331, Q04958, Q0CNC7, Q0UJ42, Q1DLC7, Q21534, Q2H0D3, Q2UDH2, Q3TRM4, Q4PF83, Q4WA15, Q5A368, Q5BAE9, Q5BK26, Q5RDS0, Q6BQK9, Q6CF18, Q6CWC2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	247
Likely benign	25
Benign	3

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
563648	GRCh37/hg19 9q34.3(chr9:140366594-141020389)x1	Pathogenic

SpliceAI

8198 predictions. Top by Δscore:

Variant	Effect	Δscore
9:137460733:TTCGT:T	acceptor_gain	1.0000
9:137460735:CGT:C	acceptor_gain	1.0000
9:137460738:C:CC	acceptor_gain	1.0000
9:137460745:C:CT	acceptor_gain	1.0000
9:137460745:C:T	acceptor_gain	1.0000
9:137460746:G:T	acceptor_gain	1.0000
9:137461616:AGGAC:A	acceptor_gain	1.0000
9:137461620:CCTA:C	acceptor_loss	1.0000
9:137461621:C:CC	acceptor_gain	1.0000
9:137461627:G:C	acceptor_gain	1.0000
9:137461927:TCA:T	donor_loss	1.0000
9:137461928:CA:C	donor_loss	1.0000
9:137461929:A:AC	donor_gain	1.0000
9:137461930:C:CC	donor_gain	1.0000
9:137461930:CCGCA:C	donor_gain	1.0000
9:137462038:CTTC:C	acceptor_gain	1.0000
9:137462177:A:AC	donor_gain	1.0000
9:137462178:C:CC	donor_gain	1.0000
9:137462178:CG:C	donor_gain	1.0000
9:137462283:C:CT	acceptor_gain	1.0000
9:137462832:CG:C	acceptor_gain	1.0000
9:137462834:C:CC	acceptor_gain	1.0000
9:137484581:GCTTA:G	donor_loss	1.0000
9:137484582:CTTA:C	donor_loss	1.0000
9:137484583:TTA:T	donor_loss	1.0000
9:137484584:TAC:T	donor_loss	1.0000
9:137484585:A:AC	donor_gain	1.0000
9:137484585:ACC:A	donor_loss	1.0000
9:137484586:C:CC	donor_gain	1.0000
9:137484586:C:CT	donor_loss	1.0000

AlphaMissense

8713 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:137480389:A:G	W810R	0.998
9:137480389:A:T	W810R	0.998
9:137495103:G:T	A661D	0.998
9:137505636:A:G	L459P	0.997
9:137479192:A:G	L851P	0.996
9:137484610:A:G	L750P	0.996
9:137497263:A:G	L621P	0.996
9:137497269:C:A	G619V	0.996
9:137497269:C:T	G619D	0.996
9:137500799:C:A	G525V	0.996
9:137505648:G:T	A455D	0.996
9:137479124:A:G	W874R	0.995
9:137479124:A:T	W874R	0.995
9:137495097:C:G	R663P	0.995
9:137497260:C:G	R622P	0.995
9:137521700:A:G	L273P	0.995
9:137480365:C:G	A818P	0.994
9:137480370:C:G	R816P	0.994
9:137480387:C:A	W810C	0.994
9:137480387:C:G	W810C	0.994
9:137495092:A:G	S665P	0.994
9:137497266:C:G	R620P	0.994
9:137500718:A:G	L552P	0.994
9:137500726:G:C	C549W	0.994
9:137500869:C:A	G502W	0.994
9:137521658:A:G	L287P	0.994
9:137461583:G:T	A1240D	0.993
9:137478061:G:T	A927D	0.993
9:137480416:A:C	Y801D	0.993
9:137493069:A:G	L689P	0.993

dbSNP variants (sampled 300 via entrez): RS1000029510 (9:137502917 T>C), RS1000029641 (9:137493528 A>G), RS1000080034 (9:137472205 C>G), RS1000097915 (9:137504330 G>A,C), RS1000100004 (9:137471702 C>T), RS1000195380 (9:137545128 A>C,G), RS1000203833 (9:137486508 G>A), RS1000208874 (9:137509597 C>G,T), RS1000224306 (9:137480195 G>C), RS1000229680 (9:137491326 G>GA), RS1000267872 (9:137544903 C>T), RS1000267921 (9:137528701 C>A,G), RS1000293826 (9:137524091 C>A,T), RS1000300180 (9:137549045 G>A,C), RS1000303156 (9:137468920 C>A,T)

Disease associations

OMIM: gene MIM:612122 | disease phenotypes: MIM:618124, MIM:253250

GenCC curated gene-disease

Mondo (3): primary ovarian failure (MONDO:0005387), peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MONDO:0029131), mulibrey nanism (MONDO:0009664)

Orphanet (2): Mulibrey nanism (Orphanet:2576), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008156_127	Hip circumference adjusted for BMI	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D050336	Mulibrey Nanism	C05.116.099.343.796; C16.320.240.875
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

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Nickel	decreases expression	2
Aflatoxin B1	affects methylation, decreases expression	2
aristolochic acid I	increases expression	1
afuresertib	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	affects methylation	1
di-n-butylphosphoric acid	affects expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Copper	decreases expression, affects cotreatment	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Diazinon	increases methylation	1
Estradiol	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases 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