FAM120B

gene
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Also known as PGCC1CCPGSAN1

Summary

FAM120B (family with sequence similarity 120 member B, HGNC:21109) is a protein-coding gene on chromosome 6q27, encoding Constitutive coactivator of peroxisome proliferator-activated receptor gamma (Q96EK7). Functions as a transactivator of PPARG and ESR1.

Predicted to be involved in fat cell differentiation and peroxisome proliferator activated receptor signaling pathway. Predicted to be active in nucleus.

Source: NCBI Gene 84498 — RefSeq curated summary.

At a glance

  • GWAS associations: 6
  • Clinical variants (ClinVar): 135 total
  • MANE Select transcript: NM_032448

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21109
Approved symbolFAM120B
Namefamily with sequence similarity 120 member B
Location6q27
Locus typegene with protein product
StatusApproved
AliasesPGCC1, CCPG, SAN1
Ensembl geneENSG00000112584
Ensembl biotypeprotein_coding
OMIM612266
Entrez84498

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 25 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000476287, ENST00000496635, ENST00000537664, ENST00000625626, ENST00000630384, ENST00000901517, ENST00000901518, ENST00000901519, ENST00000901520, ENST00000901521, ENST00000901522, ENST00000915624, ENST00000915625, ENST00000915626, ENST00000915627, ENST00000915628, ENST00000966364, ENST00000966365, ENST00000966366, ENST00000966367, ENST00000966368, ENST00000966369, ENST00000966370, ENST00000966371, ENST00000966372, ENST00000966373

RefSeq mRNA: 4 — MANE Select: NM_032448 NM_001286379, NM_001286380, NM_001286381, NM_032448

CCDS: CCDS5314, CCDS69243, CCDS75555, CCDS78200

Canonical transcript exons

ENST00000476287 — 11 exons

ExonStartEnd
ENSE00001149875170391013170391121
ENSE00001282246170395487170395579
ENSE00001900474170404763170407067
ENSE00002146799170323079170323259
ENSE00002178626170358226170358318
ENSE00002180535170388287170388493
ENSE00002184114170348151170348323
ENSE00003468202170317370170319124
ENSE00003474409170404550170404601
ENSE00003579893170330449170330550
ENSE00003774628170306758170306842

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 90.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 31.7616 / max 258.3651, expressed in 1814 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
7129430.41651813
712951.3451778

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
right uterine tubeUBERON:000130290.40gold quality
right testisUBERON:000453489.33gold quality
left testisUBERON:000453389.18gold quality
prostate glandUBERON:000236788.78gold quality
testisUBERON:000047388.54gold quality
primary visual cortexUBERON:000243688.36gold quality
tibial nerveUBERON:000132388.22gold quality
endocervixUBERON:000045888.08gold quality
right hemisphere of cerebellumUBERON:001489088.03gold quality
hypothalamusUBERON:000189887.97gold quality
fallopian tubeUBERON:000388987.97gold quality
pituitary glandUBERON:000000787.95gold quality
lower esophagus mucosaUBERON:003583487.94gold quality
minor salivary glandUBERON:000183087.91gold quality
adenohypophysisUBERON:000219687.88gold quality
saliva-secreting glandUBERON:000104487.87gold quality
islet of LangerhansUBERON:000000687.81gold quality
endometriumUBERON:000129587.78gold quality
cerebellar hemisphereUBERON:000224587.74gold quality
cerebellumUBERON:000203787.72gold quality
cerebellar cortexUBERON:000212987.72gold quality
corpus callosumUBERON:000233687.69gold quality
Brodmann (1909) area 9UBERON:001354087.63gold quality
stromal cell of endometriumCL:000225587.56gold quality
uterine cervixUBERON:000000287.56gold quality
C1 segment of cervical spinal cordUBERON:000646987.54gold quality
myometriumUBERON:000129687.50gold quality
nucleus accumbensUBERON:000188287.49gold quality
mucosa of transverse colonUBERON:000499187.47gold quality
left ovaryUBERON:000211987.45gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes5.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting FAM120B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3646100.0073.565283
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-366299.9973.825684
HSA-MIR-607799.9968.042299
HSA-MIR-60799.9773.625593
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-570-3P99.9672.414910
HSA-MIR-651-3P99.9473.485177
HSA-MIR-552-5P99.9368.561583
HSA-MIR-205-3P99.9269.923165
HSA-MIR-454-3P99.9174.011925
HSA-MIR-366699.9073.241833
HSA-MIR-130A-3P99.9073.311861
HSA-MIR-130B-3P99.9073.271850
HSA-MIR-301A-3P99.9073.151839
HSA-MIR-301B-3P99.9073.191836
HSA-MIR-429599.9073.111838
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-684499.8270.692423
HSA-MIR-4694-3P99.7969.532640
HSA-MIR-807699.7868.521170
HSA-MIR-548AG99.7769.251492
HSA-MIR-7856-5P99.7569.992901
HSA-MIR-6885-3P99.7570.363187
HSA-MIR-442899.7366.411733
HSA-MIR-471999.7372.103329
HSA-MIR-149-3P99.7268.223963
HSA-MIR-4677-5P99.7070.091940
HSA-MIR-120899.7068.281533

Literature-anchored findings (GeneRIF, showing 2)

  • Study report a previously uncharacterized protein, SAN1, the Fam120b gene product, as a 5’ exonuclease that acts independently of the Fanconi anemia pathway in response to inter-strand DNA cross-links (ICLs). Deletion of SAN1 in HeLa cells and mouse embryonic fibroblasts causes sensitivity to ICLs. SAN1 binds to senataxin (SETX). SAN1-SETX binding is increased by ICLs and is required to prevent cross-link sensitivity. (PMID:29968717)
  • San1 deficiency leads to cardiomyopathy due to excessive R-loop-associated DNA damage and cardiomyocyte hypoplasia. (PMID:34339838)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriofam120bENSDARG00000030804
mus_musculusFam120bENSMUSG00000014763
rattus_norvegicusFam120bENSRNOG00000058790

Paralogs (2): FAM120A (ENSG00000048828), FAM120C (ENSG00000184083)

Protein

Protein identifiers

Constitutive coactivator of peroxisome proliferator-activated receptor gammaQ96EK7 (reviewed: Q96EK7)

Alternative names: PPARG constitutive coactivator 1, Protein FAM120B

All UniProt accessions (3): A0A0D9SEJ5, Q96EK7, F5GY05

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation.

Subunit / interactions. Interacts with ESR1 and RXRA. Interacts with PPARG; in a ligand-independent manner.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed.

Similarity. Belongs to the constitutive coactivator of PPAR-gamma family.

Isoforms (3)

UniProt IDNamesCanonical?
Q96EK7-11yes
Q96EK7-22
Q96EK7-33

RefSeq proteins (4): NP_001273308, NP_001273309, NP_001273310, NP_115824* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR026784Coact_PPARgFamily
IPR029060PIN-like_dom_sfHomologous_superfamily

UniProt features (21 total): sequence variant 8, compositionally biased region 5, region of interest 3, splice variant 3, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96EK7-F171.920.54

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 (1): 885

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-1989781PPARA activates gene expression
R-HSA-381340Transcriptional regulation of white adipocyte differentiation

MSigDB gene sets: 109 (showing top): REACTOME_TRANSCRIPTIONAL_REGULATION_OF_WHITE_ADIPOCYTE_DIFFERENTIATION, CAGCTG_AP4_Q5, GOBP_FAT_CELL_DIFFERENTIATION, GOBP_INTRACELLULAR_RECEPTOR_SIGNALING_PATHWAY, chr6q27, PID_RXR_VDR_PATHWAY, KOYAMA_SEMA3B_TARGETS_DN, GOBP_PEROXISOME_PROLIFERATOR_ACTIVATED_RECEPTOR_SIGNALING_PATHWAY, REACTOME_REGULATION_OF_LIPID_METABOLISM_BY_PPARALPHA, REACTOME_METABOLISM_OF_LIPIDS, GSE14415_ACT_VS_CTRL_NATURAL_TREG_DN, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_UP, GSE14415_INDUCED_VS_NATURAL_TREG_UP, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_DN, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_2H_DN

GO Biological Process (3): peroxisome proliferator activated receptor signaling pathway (GO:0035357), fat cell differentiation (GO:0045444), cell differentiation (GO:0030154)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Regulation of lipid metabolism by PPARalpha1
Adipogenesis1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
nuclear receptor-mediated signaling pathway1
cell differentiation1
cellular developmental process1
binding1
intracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1232 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FAM120BUBR1Q8IWV7720
FAM120BA0A090J7P6A0A090J7P6719
FAM120BERCC5P28715673
FAM120BMARCHF6O60337642
FAM120BPPARGP37231639
FAM120BPSMB1P20618606
FAM120BPDCD2Q16342594
FAM120BESR1P03372582
FAM120BLTN1O94822575
FAM120BXPR1Q9UBH6562
FAM120BTHRBP10828502
FAM120BCDC34P49427488
FAM120BERMARDQ5T6L9479
FAM120BWDR27A2RRH5477
FAM120BRPL11P25121436

IntAct

38 interactions, top by confidence:

ABTypeScore
WDR20USP12psi-mi:“MI:0914”(association)0.800
TRAF2FAM120Bpsi-mi:“MI:0915”(physical association)0.670
FLCNZNF609psi-mi:“MI:0914”(association)0.530
IMPDH1BCAT2psi-mi:“MI:0914”(association)0.530
DOK2NCK2psi-mi:“MI:0914”(association)0.530
GSTM3ECT2Lpsi-mi:“MI:0914”(association)0.530
LSP1FAM120Bpsi-mi:“MI:0915”(physical association)0.400
RPL30FAM120Bpsi-mi:“MI:0915”(physical association)0.370
FAM120Bpsi-mi:“MI:0915”(physical association)0.370
EGLN3FAM168Bpsi-mi:“MI:0914”(association)0.350
HIF1ANARID1Apsi-mi:“MI:0914”(association)0.350
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
ITM2BILVBLpsi-mi:“MI:0914”(association)0.350
SPANXN4UBA6psi-mi:“MI:0914”(association)0.350
NXF2BMEIOCpsi-mi:“MI:0914”(association)0.350
DNAJA2DENND11psi-mi:“MI:0914”(association)0.350
FEM1ARNF113Apsi-mi:“MI:0914”(association)0.350
COP1SPOPpsi-mi:“MI:0914”(association)0.350
MTPNPLCG1psi-mi:“MI:0914”(association)0.350
DONSONHSP90AA5Ppsi-mi:“MI:0914”(association)0.350
PXDNTRAF7psi-mi:“MI:0914”(association)0.350
SURF6GTPBP10psi-mi:“MI:0914”(association)0.350
FAM133ADNM1Lpsi-mi:“MI:0914”(association)0.350
FEM1ALAD1psi-mi:“MI:0914”(association)0.350
EPB41L5LIN7Apsi-mi:“MI:0914”(association)0.350
ING2TNRC18psi-mi:“MI:0914”(association)0.350
TNFAIP6ITIH2psi-mi:“MI:0914”(association)0.350
TROAPHARS2psi-mi:“MI:0914”(association)0.350
STN1MTMR3psi-mi:“MI:0914”(association)0.350

BioGRID (54): FAM120B (Two-hybrid), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), SETX (Affinity Capture-Western), TRAF2 (Two-hybrid), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS), FAM120B (Affinity Capture-MS)

ESM2 similar proteins: A0A087WUL8, A0A0J9YX57, A0A1B0GV03, A2A6M5, A2A9R3, A5A3E0, A6NEF3, A6NI86, A8MZA4, B4DH59, B5DUH6, D3ZVV1, E9Q0N2, H0YKK7, H0YM25, O04492, O18737, P0C6Y7, P0CG38, P0CG39, P0DPF3, P0DX00, P0DX01, P0DX02, Q3BBV2, Q4R914, Q5TAG4, Q5TI25, Q5W0A0, Q6P3W6, Q6RI63, Q6S8J3, Q86T75, Q86X53, Q8HXZ7, Q8HXZ8, Q8HY00, Q8HY01, Q8HY03, Q8HY11

Diamond homologs: A6H7H1, Q5T035, Q6A0A9, Q6DEZ2, Q8C3F2, Q96EK7, Q9NX05, Q9NZB2, A6QNT4, Q6RI63

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance96
Likely benign14
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2667 predictions. Top by Δscore:

VariantEffectΔscore
6:170323077:A:AGacceptor_gain1.0000
6:170323078:G:GGacceptor_gain1.0000
6:170323078:GGTT:Gacceptor_gain1.0000
6:170323255:TCAAG:Tdonor_loss1.0000
6:170323258:AGGTG:Adonor_loss1.0000
6:170323259:GGTGA:Gdonor_loss1.0000
6:170323260:GTG:Gdonor_loss1.0000
6:170323261:T:Gdonor_loss1.0000
6:170330444:TTCA:Tacceptor_loss1.0000
6:170330446:CA:Cacceptor_loss1.0000
6:170330447:A:AGacceptor_gain1.0000
6:170330447:AG:Aacceptor_loss1.0000
6:170330448:G:GGacceptor_gain1.0000
6:170330448:GAT:Gacceptor_gain1.0000
6:170323077:AG:Aacceptor_gain0.9900
6:170323077:AGGTT:Aacceptor_gain0.9900
6:170323078:GG:Gacceptor_gain0.9900
6:170323078:GGTTG:Gacceptor_gain0.9900
6:170330446:CAGA:Cacceptor_gain0.9900
6:170348147:CTA:Cacceptor_loss0.9900
6:170348148:TA:Tacceptor_loss0.9900
6:170348149:A:ACacceptor_loss0.9900
6:170348150:G:GTacceptor_loss0.9900
6:170358220:TTTCA:Tacceptor_loss0.9900
6:170358221:TTCA:Tacceptor_loss0.9900
6:170358222:TCAG:Tacceptor_loss0.9900
6:170358223:CAGG:Cacceptor_loss0.9900
6:170358224:A:ACacceptor_loss0.9900
6:170358303:GCTT:Gdonor_gain0.9900
6:170358334:G:GGdonor_gain0.9900

AlphaMissense

5985 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:170317562:T:AW58R0.998
6:170317562:T:CW58R0.998
6:170317580:T:AW64R0.998
6:170317580:T:CW64R0.998
6:170317518:T:AV43D0.997
6:170317691:T:AW101R0.997
6:170317691:T:CW101R0.997
6:170317701:G:CR104P0.997
6:170317521:A:TD44V0.995
6:170318073:T:CL228P0.995
6:170330481:T:AW650R0.995
6:170330481:T:CW650R0.995
6:170317394:G:CG2R0.994
6:170317415:T:CF9L0.994
6:170317417:T:AF9L0.994
6:170317417:T:GF9L0.994
6:170317564:G:CW58C0.994
6:170317564:G:TW58C0.994
6:170317781:T:CF131L0.994
6:170317783:C:AF131L0.994
6:170317783:C:GF131L0.994
6:170318067:C:AA226D0.994
6:170317407:T:CL6S0.993
6:170317416:T:CF9S0.993
6:170317520:G:CD44H0.993
6:170317544:T:AW52R0.993
6:170317544:T:CW52R0.993
6:170317693:G:CW101C0.993
6:170317693:G:TW101C0.993
6:170317824:T:CL145P0.993

dbSNP variants (sampled 300 via entrez): RS1000009209 (6:170346646 C>G), RS1000039432 (6:170306914 C>T), RS1000045266 (6:170346348 T>A,C), RS1000053028 (6:170296202 G>A), RS1000080221 (6:170296463 G>A), RS1000123893 (6:170321914 CTT>C), RS1000125569 (6:170362425 A>AAG), RS1000143042 (6:170376556 T>A), RS1000171458 (6:170397445 C>T), RS1000240374 (6:170340653 G>A,C), RS1000250855 (6:170400629 A>C,G), RS1000263426 (6:170331019 A>G), RS1000271439 (6:170382809 A>G), RS1000297169 (6:170362247 C>T), RS1000320982 (6:170319348 G>A,T)

Disease associations

OMIM: gene MIM:612266 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): primary ovarian failure (MONDO:0005387), primary amenorrhea (MONDO:1060208)

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):

StudyTraitp-value
GCST001255_3Type 1 diabetes8.000000e-09
GCST005588_31Idiopathic dilated cardiomyopathy7.000000e-06
GCST006065_19Glaucoma (primary open-angle)9.000000e-09
GCST007325_94General risk tolerance (MTAG)1.000000e-10
GCST009191_3Paracentral lobule volume6.000000e-06
GCST011494_36Daytime nap9.000000e-12

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0009094idiopathic dilated cardiomyopathy
EFO:0008579risk-taking behaviour
EFO:0007828daytime rest measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D016649Primary Ovarian InsufficiencyC12.050.351.500.056.630.750; 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

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression, decreases methylation3
sodium arsenitedecreases expression, increases expression2
Benzo(a)pyreneaffects methylation, increases expression, increases methylation2
bisphenol Faffects cotreatment, decreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
trichostatin Aincreases expression1
beta-methylcholineaffects expression1
ICG 001increases expression1
bisphenol Saffects cotreatment, decreases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Decitabineaffects expression1
Acetaminophenincreases expression1
Cisplatinaffects expression1
Curcumindecreases expression1
Dexamethasoneaffects cotreatment, decreases expression1
Enzyme Inhibitorsdecreases activity, increases O-linked glycosylation1
Indomethacinaffects cotreatment, decreases expression1
Ribonucleotidesaffects binding1
Smokedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
1-Methyl-3-isobutylxanthinedecreases expression, affects cotreatment1
Aflatoxin B1decreases methylation1
Lactic Aciddecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00417066PHASE4COMPLETEDFlexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693PHASE4COMPLETEDEvaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616PHASE4COMPLETEDEstrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501PHASE4UNKNOWNEffects of ADSC Therapy in Women With POF
NCT02783937PHASE4COMPLETEDFilgrastim for Premature Ovarian Insufficiency
NCT03535480PHASE4UNKNOWNAutologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998PHASE3COMPLETEDEstrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951PHASE2COMPLETEDHormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019PHASE2WITHDRAWNEffects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494PHASE2COMPLETEDGnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852PHASE2SUSPENDEDThe Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467PHASE2UNKNOWNPrevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982PHASE2COMPLETEDThe Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104PHASE1COMPLETEDA Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695PHASE1COMPLETEDInovium Ovarian Rejuvenation Trials
NCT04815213PHASE1ACTIVE_NOT_RECRUITINGThe Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367PHASE1COMPLETEDEffects of UCA-PSCs in Women With POF
NCT06132542PHASE1UNKNOWNAutologous ADMSC Transplantation in Patients With POI
NCT00948857PHASE2/PHASE3TERMINATEDDehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456PHASE2/PHASE3RECRUITINGAutologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743PHASE1/PHASE2UNKNOWNAutologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931PHASE1/PHASE2UNKNOWNAutologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890PHASE1/PHASE2COMPLETEDPregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474PHASE1/PHASE2COMPLETEDIt is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744PHASE1/PHASE2UNKNOWNAutologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447PHASE1/PHASE2COMPLETEDTransplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209PHASE1/PHASE2UNKNOWNAutologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462PHASE1/PHASE2WITHDRAWNVery Small Embryonic-like Stem Cells for Ovary
NCT04009473PHASE1/PHASE2UNKNOWNStem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574PHASE1/PHASE2COMPLETEDComparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398PHASE1/PHASE2UNKNOWNOvarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379PHASE1/PHASE2ACTIVE_NOT_RECRUITINGAutologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547PHASE1/PHASE2UNKNOWNIntra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947EARLY_PHASE1WITHDRAWNThe Use of DHEA in Women With Premature Ovarian Failure
NCT05522634EARLY_PHASE1UNKNOWNA Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327EARLY_PHASE1ACTIVE_NOT_RECRUITINGThe Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275Not specifiedCOMPLETEDOvarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306Not specifiedCOMPLETEDSteroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156Not specifiedCOMPLETEDFeasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925Not specifiedUNKNOWN‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): open-angle glaucoma, primary amenorrhea