NR5A2

Summary

NR5A2 (nuclear receptor subfamily 5 group A member 2, HGNC:7984) is a protein-coding gene on chromosome 1q32.1, encoding Nuclear receptor subfamily 5 group A member 2 (O00482). Orphan nuclear receptor that binds DNA as a monomer to the 5’-TCAAGGCCA-3’ sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, as well as liver and pancreas morph….

The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development.

Source: NCBI Gene 2494 — RefSeq curated summary.

At a glance

• GWAS associations: 36
• Clinical variants (ClinVar): 72 total
• Druggable target: yes
• Transcription factor: yes — 70 downstream targets (CollecTRI)
• MANE Select transcript: NM_205860

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7984
Approved symbol	NR5A2
Name	nuclear receptor subfamily 5 group A member 2
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2, LRH1
Ensembl gene	ENSG00000116833
Ensembl biotype	protein_coding
OMIM	604453
Entrez	2494

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 nonsense_mediated_decay

ENST00000236914, ENST00000367357, ENST00000367362, ENST00000447034, ENST00000474307, ENST00000544748, ENST00000892174, ENST00000892175, ENST00000892176

RefSeq mRNA: 3 — MANE Select: NM_205860 NM_001276464, NM_003822, NM_205860

CCDS: CCDS1400, CCDS1401, CCDS60383

Canonical transcript exons

ENST00000367362 — 8 exons

Exon	Start	End
ENSE00001420464	200173963	200177415
ENSE00001869866	200027710	200027911
ENSE00002365321	200111202	200111321
ENSE00002375808	200048172	200048818
ENSE00002391372	200120808	200120955
ENSE00002429517	200045443	200045584
ENSE00002730534	200039658	200039795
ENSE00003566802	200043774	200043892

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 95.28.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2389 / max 219.1689, expressed in 251 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7636	0.3555	45
7643	0.3300	171
7644	0.2383	77
7635	0.1266	29
7638	0.1249	24
7637	0.0321	17
7639	0.0315	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	95.28	gold quality
pancreas	UBERON:0001264	92.88	gold quality
islet of Langerhans	UBERON:0000006	89.26	gold quality
jejunal mucosa	UBERON:0000399	87.96	gold quality
liver	UBERON:0002107	87.40	gold quality
right lobe of liver	UBERON:0001114	87.23	gold quality
duodenum	UBERON:0002114	86.17	gold quality
rectum	UBERON:0001052	85.65	gold quality
pancreatic ductal cell	CL:0002079	85.35	gold quality
colonic mucosa	UBERON:0000317	84.40	gold quality
mucosa of sigmoid colon	UBERON:0004993	83.29	gold quality
mucosa of transverse colon	UBERON:0004991	81.92	gold quality
colonic epithelium	UBERON:0000397	80.91	gold quality
epithelial cell of pancreas	CL:0000083	80.70	gold quality
gall bladder	UBERON:0002110	80.42	gold quality
small intestine	UBERON:0002108	79.37	gold quality
small intestine Peyer’s patch	UBERON:0003454	79.13	gold quality
ileal mucosa	UBERON:0000331	78.38	gold quality
transverse colon	UBERON:0001157	77.29	gold quality
visceral pleura	UBERON:0002401	75.17	gold quality
intestine	UBERON:0000160	74.99	gold quality
omental fat pad	UBERON:0010414	74.06	gold quality
peritoneum	UBERON:0002358	74.01	gold quality
pleura	UBERON:0000977	73.82	gold quality
parietal pleura	UBERON:0002400	73.38	gold quality
large intestine	UBERON:0000059	73.24	gold quality
adipose tissue of abdominal region	UBERON:0007808	73.22	gold quality
subcutaneous adipose tissue	UBERON:0002190	72.96	gold quality
colon	UBERON:0001155	72.80	gold quality
smooth muscle tissue	UBERON:0001135	70.93	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.44
E-MTAB-5061	yes	18.20
E-ENAD-27	yes	6.49
E-GEOD-124858	no	6.76

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

70 targets.

Target	Regulation
ABCB11	Unknown
ABCC3
ABCG5	Activation
ABCG8	Activation
ADAM2
ADIPOQ	Unknown
AFP
AKR1A1
ALAS1
APOM
AQP1
ARG1
CCND1	Activation
CCNE1	Unknown
CD74
CDKN2A
CEL	Unknown
CETP	Activation
CR1
CYP11A1	Unknown
CYP11B1	Activation
CYP17A1	Activation
CYP19A1	Unknown
CYP7A1	Unknown
CYP8B1
DDC	Unknown
DIAPH2	Activation
ESR1
FASN	Unknown
FGB	Repression

Upstream regulators (CollecTRI, top): AHR, AR, CEBPG, CREB1, ESR1, ESR2, FOXA2, FOXL2, HNF1A, NCOA1, NR0B1, NR0B2, NR1H3, NR1H4, NR5A1, NR5A2, PDX1, PRDM1, PROX1, SOX2, TCF7L1, ZNF461

miRNA regulators (miRDB)

166 targeting NR5A2, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
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-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
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-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-4725-3P	99.96	69.53	2520

Literature-anchored findings (GeneRIF, showing 40)

• role in regulating aromatase expression in preadipocytes (liver receptor homologue-1) (PMID:11927588)
• Ligands are dispensabe for LRH-1 activation. (PMID:12820970)
• LRH-1 is a nuclear receptor which can assume an active conformation in the absence of a ligand agonist. (PMID:12852843)
• Liver receptor homolog 1 controls the expression of carboxyl ester lipase in pancreas (PMID:12853459)
• PDX-1 regulates expression of LRH-1 during pancreas development. (PMID:12972592)
• LRH-1 is highly expressed in corpus luteum, and it plays an essential role in the regulation of HSD3B2. (PMID:14671206)
• hBIF and HNF1 are involved together in the viral gene expression regulation of the Hepatitis B virus. (PMID:14728801)
• role for LRH-1 in the induction of the progesterone but not the estrogen biosynthetic pathway during granulosa cell differentiation. (PMID:15117876)
• LRH-1 is a positive transcription factor for ABCG5 and ABCG8 and, in conjunction with studies on LRH-1 activation of other promoters, identify LRH-1 as a “master regulator” for genes involved in sterol and bile acid secretion from liver and intestine (PMID:15121760)
• important functional role of helix 1 in cofactor recruitment and a novel molecular mechanism of transcriptional regulation and cofactor recruitment mediated by hLRH-1 (PMID:15143151)
• LRH-1 could be the major transcription factor responsible for the rapid and significant increase in ovarian StAR gene expression after ovulation. (PMID:15181096)
• The liver receptor homolog-1 has emerged as an essential regulator for the expression of cyp7a1 gene. (PMID:15205472)
• LHR-1 regulgates apolipoprotein A-1 transscription, and affects cholesterol homeostasis. (PMID:15218078)
• CYP11A1 expression in human granulosa cells is regulated by LRH-1. (PMID:15613430)
• Human LRH-1 receptor binds phosphatidyl inositol second messengers;ligand binding is required for maximal activity. (PMID:15707893)
• hLRH-1’s control of gene expression is mediated by phospholipid binding (PMID:15723037)
• Data show that sumoylated LRH-1 is exclusively localized in promyelocytic leukemia protein nuclear bodies, and that this association is a dynamic process regulated in part by SUMO-1. (PMID:15923626)
• suppression of hLRH-1 resulted in cell cycle arrest mediated by the down-regulation of cyclin E1 (PMID:15963945)
• LRH-1 is transcriptionally regulated by the estrogen receptor alpha reinforcing the hypothesis that LRH-1 could exert potential oncogenic effects in breast cancer formation. (PMID:16091743)
• LRH-1 and SHP1 regulate 3-hydroxy-3-methylglutaryl coenzyme A reductase promoter and have a role in regulation of cholesterol synthesis and uptake (PMID:16282330)
• phosphorylation of the hinge domain of the nuclear hormone receptor LRH-1 stimulates transactivation (PMID:16439367)
• siRNA interference studies suggested that nuclear receptor subfamily 5, group A, member 2 (hLRH-1) acts as a negative regulator in farnesyl pyrophosphate synthetase expression. (PMID:16450584)
• FTF and LRH-1 are two related but different transcription factors in human Caco-2 cells, suggesting that they may be homologues and not orthologues. (PMID:16469397)
• LRH-1 and SF-1 have qualitatively similar actions on FSH-stimulated estrogen and progesterone production. These factors may have overlapping actions in regulation of steroidogenesis that accompanies granulosa cell differentiation. (PMID:17095585)
• LRH-1 stimulation of the FAS LXR response is blocked by the addition of small heterodimer partner (SHP) and that FAS mRNA (PMID:17522048)
• LRH-1/phospholipid and LRH-1/SHP (fragments) interactions are analyzed by counting atomic contact number, identifying hydrogen bonds, and estimating binding free energies (PMID:17910058)
• The present study demonstrated for the first time the increased expression of hLRH-1v1 and hLRH-1 in human gastric cancer, an alteration which may implicate in tumorigenesis. (PMID:17952562)
• LRH-1 is a novel regulator of APOM transcription and further extend the role of this orphan nuclear receptor in lipoprotein metabolism and cholesterol homeostasis (PMID:17977826)
• Sphingosine-1-phosphate induces LRH-1 mRNA expression in MCF-7 cells in a prostaglandin E2 (PGE2)-dependent manner. (PMID:18191017)
• Liver receptor homolog 1 (LRH-1) is a key transcriptional factor required for the hepatic expression of CYP7A1. (PMID:18270374)
• PGC-1alpha is an important co-activator for LRH-1 and that SHP targets the interaction between LRH-1 and PGC-1alpha to inhibit CYP7A1 expression. (PMID:18385139)
• a study, by molecular dynamics (MD) simulations, the impact of the ligand on the receptor and the interaction with different cofactor peptides (PMID:18410128)
• Possible unexpected new class of nuclear receptor signaling molecules, but broader functional roles of LRH-1 and these new ligands remain to be established.[REVIEW] (PMID:18508634)
• Differential expression of steroidogenic factors 1 and 2, cytochrome p450scc, and steroidogenic acute regulatory protein in the pancreas. (PMID:18665078)
• structure of the Dax-1:LRH-1 complex provides the molecular mechanism for the function of Dax-1 as a potent transcriptional repressor (PMID:19015525)
• both SF1 and LRH1 can transcriptionally cooperate with the AP-1 family members c-JUN and c-FOS, known to be associated with enhanced proliferation of endometrial carcinoma cells, to further enhance activation of the STAR, HSD3B2, and CYP19A1 PII promoters (PMID:19022561)
• The results indicate that LRH-1 could represent another key regulator of the steroidogenic lineage in MSCs and play a vital role in steroid hormone production in human Leydig cells. (PMID:19359379)
• results indicate that PGC-1alpha is involved in progesterone production in ovarian granulosa cells by potentiating transcriptional activities of LRH1 proteins. (PMID:20133449)
• selective synthetic agonists induce SUMOylation-dependent recruitment of either LRH-1 or LXR to hepatic APR promoters and prevent the clearance of the N-CoR corepressor complex upon cytokine stimulation (PMID:20159957)
• Our findings extend this by highlighting LRH-1 as a key regulator of the estrogen response in breast cancer cells through the regulation of ER expression. (PMID:20607599)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
danio_rerio	nr5a2	ENSDARG00000100940
mus_musculus	Nr5a2	ENSMUSG00000026398
rattus_norvegicus	Nr5a2	ENSRNOG00000000653
drosophila_melanogaster	ftz-f1	FBGN0001078
drosophila_melanogaster	Hr39	FBGN0261239
caenorhabditis_elegans		WBGENE00003604
caenorhabditis_elegans		WBGENE00003607
caenorhabditis_elegans		WBGENE00003623
caenorhabditis_elegans		WBGENE00003625
caenorhabditis_elegans	nhr-74	WBGENE00003664
caenorhabditis_elegans	nhr-89	WBGENE00003679
caenorhabditis_elegans		WBGENE00003687
caenorhabditis_elegans	nhr-113	WBGENE00003703
caenorhabditis_elegans		WBGENE00003709
caenorhabditis_elegans	nhr-259	WBGENE00007770
caenorhabditis_elegans	nhr-244	WBGENE00014186
caenorhabditis_elegans		WBGENE00015869
caenorhabditis_elegans		WBGENE00016777
caenorhabditis_elegans		WBGENE00022062
caenorhabditis_elegans		WBGENE00022374

Paralogs (1): NR5A1 (ENSG00000136931)

Protein

Protein identifiers

Nuclear receptor subfamily 5 group A member 2 — O00482 (reviewed: O00482)

Alternative names: Alpha-1-fetoprotein transcription factor, B1-binding factor, CYP7A promoter-binding factor, Hepatocytic transcription factor, Liver receptor homolog 1

All UniProt accessions (5): O00482, E9PQH2, F1D8R9, H0Y328, H0Y7S7

UniProt curated annotations — full annotation on UniProt →

Function. Orphan nuclear receptor that binds DNA as a monomer to the 5’-TCAAGGCCA-3’ sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, as well as liver and pancreas morphogenesis. Ligand-binding causes conformational change which causes recruitment of coactivators, promoting target gene activation. The specific ligand is unknown, but specific phospholipids, such as phosphatidylethanolamine, phosphatidylserine, dilauroyl phosphatidylcholine and diundecanoyl phosphatidylcholine can act as ligand in vitro. Acts as a pioneer transcription factor, which unwraps target DNA from histones and elicits local opening of closed chromatin. Plays a central role during preimplantation stages of embryonic development. Plays a minor role in zygotic genome activation (ZGA) by regulating a small set of two-cell stage genes. Plays a major role in morula development (2-16 cells embryos) by acting as a master regulator at the 8-cell stage, controlling expression of lineage-specifying transcription factors and genes involved in mitosis, telomere maintenance and DNA repair. Zygotic NR5A2 binds to both closed and open chromatin with other transcription factors, often at SINE B1/Alu repeats DNA elements, promoting chromatin accessibility at nearby regulatory regions. Also involved in the epiblast stage of development and embryonic stem cell pluripotency, by promoting expression of POU5F1/OCT4. Regulates other processes later in development, such as formation of connective tissue in lower jaw and middle ear, neural stem cell differentiation, ovarian follicle development and Sertoli cell differentiation. Involved in exocrine pancreas development and acinar cell differentiation. Acts as an essential transcriptional regulator of lipid metabolism. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. Also acts as a negative regulator of inflammation in different organs, such as, liver and pancreas. Protects against intestinal inflammation via its ability to regulate glucocorticoid production. Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex. Acts as a regulator of immunity by promoting lymphocyte T-cell development, proliferation and effector functions. Also involved in resolution of endoplasmic reticulum stress in the liver. In constrast to isoform 1 and isoform 2, does not induce cholesterol 7-alpha-hydroxylase gene (CYP7A) promoter activity. (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with HNF1A to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII).

Subunit / interactions. Monomer; Binds DNA as a monomer. Interacts with nuclear receptor corepressors NR0B1 and NR0B2; repressing NR5A2 nuclear receptor activity. Interacts with nuclear receptor coactivators CTNNB1, PPARGC1A and NCOA2; interaction takes place following ligand-binding and promotes target gene activation. Interacts (when sumoylated) with GPS2; interaction with GPS2 onto hepatic acute phase protein promoters prevents N-Cor corepressor complex dissociation. Interacts with HNF1A. Interacts with GRIP1.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells.

Post-translational modifications. Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation.

Activity regulation. Activated by synthetic agonists RR-RJW100, SR-RJW100, endo sulfamide compound 6N and GSK8470.

Domain organisation. The C-terminal extension (CTE) loop competes with a DNA minor groove anchor of the nucleosome and releases entry-exit site DNA, thereby promoting opening of closed chromatin.

Similarity. Belongs to the nuclear hormone receptor family. NR5 subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
O00482-1	2, B1F2	yes
O00482-2	1
O00482-3	3
O00482-4	4

RefSeq proteins (3): NP_001263393, NP_003813, NP_995582* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000536	Nucl_hrmn_rcpt_lig-bd	Domain
IPR001628	Znf_hrmn_rcpt	Domain
IPR001723	Nuclear_hrmn_rcpt	Family
IPR013088	Znf_NHR/GATA	Homologous_superfamily
IPR016355	NR5-like	Family
IPR035500	NHR-like_dom_sf	Homologous_superfamily

Pfam: PF00104, PF00105

UniProt features (70 total): mutagenesis site 19, helix 15, binding site 11, strand 6, splice variant 3, turn 3, region of interest 3, zinc finger region 2, sequence conflict 2, chain 1, domain 1, DNA-binding region 1, cross-link 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

28 structures.

PDB	Method	Resolution (Å)
6VC2	X-RAY DIFFRACTION	1.7
3PLZ	X-RAY DIFFRACTION	1.75
4PLD	X-RAY DIFFRACTION	1.75
4PLE	X-RAY DIFFRACTION	1.75
4ONI	X-RAY DIFFRACTION	1.8
5L11	X-RAY DIFFRACTION	1.85
4RWV	X-RAY DIFFRACTION	1.86
1YUC	X-RAY DIFFRACTION	1.9
4DOR	X-RAY DIFFRACTION	1.9
5SYZ	X-RAY DIFFRACTION	1.93
5UNJ	X-RAY DIFFRACTION	1.96
4DOS	X-RAY DIFFRACTION	2
6OQX	X-RAY DIFFRACTION	2
6OR1	X-RAY DIFFRACTION	2.17
5L0M	X-RAY DIFFRACTION	2.2
2A66	X-RAY DIFFRACTION	2.2
9SMQ	X-RAY DIFFRACTION	2.2
6OQY	X-RAY DIFFRACTION	2.23
6VIF	X-RAY DIFFRACTION	2.26
7JYD	X-RAY DIFFRACTION	2.3
1YOK	X-RAY DIFFRACTION	2.5
1ZDU	X-RAY DIFFRACTION	2.5
7JYE	X-RAY DIFFRACTION	2.55
8PKI	ELECTRON MICROSCOPY	2.58
8F8M	X-RAY DIFFRACTION	2.6
3TX7	X-RAY DIFFRACTION	2.76
4IS8	X-RAY DIFFRACTION	2.78
7TT8	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00482-F1	73.05	0.48

Functional residue map

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

Ligand- & substrate-binding residues (11): 86; 89; 103; 106; 122; 128; 138; 141; 421–424; 516; 520

Post-translational modifications (1): 270

Mutagenesis-validated functional residues (19):

Position	Phenotype
96	slightly reduced dna binding. strongly reduced transactivation; when associated with a-168 and a-172.
148	increased ability to activate transcription of target genes.
159	strongly reduced nucleosome-binding. slightly reduced dna-binding.
160–162	decreased dna-binding to target genes.
162	slightly reduced dna- and nucleosome-binding.
168	slightly reduced dna binding. strongly reduced transactivation; when associated with a-96 and a-172.
169–170	reduced dna binding. loss of transactivation.
172	slightly reduced dna binding. strongly reduced transactivation; when associated with a-96 and a-168.
174	increased ability to activate transcription of target genes.
179–183	increased ability to activate transcription of target genes.
270	impaired ability to act as an anti-inflammatory role during the hepatic acute phase response.
314	decreased interaction with ppargc1a; decreased ability to increase transcription of target genes.
324	does not affect interaction with ppargc1a; does not affect ability to increase transcription of target genes.
342	reduced phospholipid binding. strongly reduced transactivation; when associated with w-416.
352	reduced activation by the synthetic agonists rr-rjw100 and gsk8470.
390	reduced activation by the synthetic agonist gsk8470 without affecting activation by the synthetic agonist rr-rjw100.
398	decreased ability to activate transcription.
416	reduced phospholipid binding. strongly reduced transactivation; when associated with w-342.
421	decreased ability to activate transcription.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9018519	Estrogen-dependent gene expression
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
R-HSA-210747	Regulation of gene expression in early pancreatic precursor cells
R-HSA-383280	Nuclear Receptor transcription pathway
R-HSA-4090294	SUMOylation of intracellular receptors

MSigDB gene sets: 363 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SOMATIC_STEM_CELL_POPULATION_MAINTENANCE, TAATAAT_MIR126, GRUETZMANN_PANCREATIC_CANCER_DN, GOBP_TOLERANCE_INDUCTION, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, GOBP_RESPONSE_TO_PEPTIDE, GOBP_STEROL_HOMEOSTASIS

GO Biological Process (37): primary ovarian follicle growth (GO:0001545), inner cell mass cell differentiation (GO:0001826), positive regulation of T cell anergy (GO:0002669), chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), spermatogenesis (GO:0007283), bile acid metabolic process (GO:0008206), hormone-mediated signaling pathway (GO:0009755), embryo development ending in birth or egg hatching (GO:0009792), tissue development (GO:0009888), neurogenesis (GO:0022008), exocrine pancreas development (GO:0031017), positive regulation of glucocorticoid biosynthetic process (GO:0031948), negative regulation of chondrocyte differentiation (GO:0032331), somatic stem cell population maintenance (GO:0035019), embryonic cleavage (GO:0040016), positive regulation of T cell proliferation (GO:0042102), homeostatic process (GO:0042592), cholesterol homeostasis (GO:0042632), positive regulation of viral genome replication (GO:0045070), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of inflammatory response (GO:0050728), positive regulation of T cell activation (GO:0050870), cartilage development (GO:0051216), Sertoli cell development (GO:0060009), pancreas morphogenesis (GO:0061113), acinar cell differentiation (GO:0090425), calcineurin-mediated signaling (GO:0097720), morula formation (GO:0140001), zygotic genome activation (GO:0141064), cellular response to leukemia inhibitory factor (GO:1990830), positive regulation of stem cell differentiation (GO:2000738), positive regulation of tendon cell differentiation (GO:2001051), intracellular receptor signaling pathway (GO:0030522), regulation of cell population proliferation (GO:0042127)

GO Molecular Function (17): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), transcription coregulator binding (GO:0001221), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), chromatin binding (GO:0003682), DNA-binding transcription factor activity (GO:0003700), nuclear receptor activity (GO:0004879), phospholipid binding (GO:0005543), zinc ion binding (GO:0008270), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), double-stranded DNA binding (GO:0003690), protein binding (GO:0005515), lipid binding (GO:0008289), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), RNA polymerase II transcription regulator complex (GO:0090575), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
ESR-mediated signaling	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1
Regulation of beta-cell development	1
Generic Transcription Pathway	1
SUMO E3 ligases SUMOylate target proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
binding	3
cellular anatomical structure	3
cell differentiation	2
regulation of DNA-templated transcription	2
embryo development	2
DNA-binding transcription factor activity, RNA polymerase II-specific	2
DNA binding	2
ovarian follicle development	1
ovulation cycle process	1
developmental growth	1
blastocyst formation	1
positive regulation of T cell tolerance induction	1
regulation of T cell anergy	1
T cell anergy	1
positive regulation of lymphocyte anergy	1
chromatin organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
developmental process involved in reproduction	1
male gamete generation	1
steroid metabolic process	1
monocarboxylic acid metabolic process	1
signal transduction	1
cellular response to hormone stimulus	1
anatomical structure development	1
nervous system development	1
pancreas development	1
exocrine system development	1
gland development	1
digestive system development	1
glucocorticoid biosynthetic process	1
regulation of glucocorticoid biosynthetic process	1
positive regulation of steroid hormone biosynthetic process	1
chondrocyte differentiation	1
regulation of chondrocyte differentiation	1
negative regulation of cell differentiation	1
negative regulation of cartilage development	1

Protein interactions and networks

STRING

1751 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NR5A2	NR0B2	Q15466	983
NR5A2	CYP7A1	P22680	902
NR5A2	CYP8B1	Q9UNU6	881
NR5A2	CTNNB1	P35222	853
NR5A2	ZNF653	Q96CK0	761
NR5A2	CYP27A1	Q02318	739
NR5A2	FABP6	P51161	733
NR5A2	EDF1	O60869	731
NR5A2	PTF1A	Q7RTS3	728
NR5A2	NANOG	Q9H9S0	723
NR5A2	CLPTM1L	Q96KA5	723
NR5A2	RAD54L2	Q9Y4B4	716
NR5A2	SOX2	P48431	697
NR5A2	KLF4	P78338	695
NR5A2	HSD3B2	P26439	689

IntAct

15 interactions, top by confidence:

A	B	Type	Score
NR5A2		psi-mi:“MI:0915”(physical association)	0.550
UBE2I	NR5A2	psi-mi:“MI:0566”(sumoylation reaction)	0.440
EDF1	NR5A2	psi-mi:“MI:0915”(physical association)	0.400
NR5A2	EDF1	psi-mi:“MI:0915”(physical association)	0.400
PROX1	NR5A2	psi-mi:“MI:0915”(physical association)	0.400
CCL22	NR5A2	psi-mi:“MI:0915”(physical association)	0.370
	NR5A2	psi-mi:“MI:0915”(physical association)	0.370
IFNA16	NR5A2	psi-mi:“MI:0915”(physical association)	0.370
IL12B	NR5A2	psi-mi:“MI:0915”(physical association)	0.370
IL31	NR5A2	psi-mi:“MI:0915”(physical association)	0.370
TNFSF10	NR5A2	psi-mi:“MI:0915”(physical association)	0.370
	DENND11	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): NR5A2 (Biochemical Activity), NCOA1 (Two-hybrid), NR5A2 (Two-hybrid), NR5A2 (Affinity Capture-Western), NR5A2 (Reconstituted Complex), GTF2H2C (Two-hybrid), SREBF2 (Reconstituted Complex), SREBF1 (Reconstituted Complex), NR5A2 (Reconstituted Complex), NR5A2 (Affinity Capture-Western), NR5A2 (Affinity Capture-Western), NR5A2 (Affinity Capture-MS), NR5A2 (Affinity Capture-MS), NR5A2 (Affinity Capture-MS), NR5A2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNE3, A0P8Z4, O00482, O42101, P06211, P06212, P13056, P19785, P28701, P28705, P35398, P37238, P45448, P48443, P49116, P49117, P49867, P51128, P51129, P51448, P55094, P57783, P70033, P79926, P81559, Q04913, Q0GFF6, Q0VC20, Q15406, Q26622, Q28CK1, Q505F1, Q5BJR8, Q5RCZ5, Q5REL6, Q64249, Q66J63, Q66JK1, Q6GN21, Q8VIJ4

Diamond homologs: A2T7D9, A2T928, A3RGC1, G5EFF5, O00482, O13124, O18531, O35627, O42101, O42295, O42392, O42450, O54915, O57606, O75469, O97716, P03373, P04625, P10276, P10827, P10828, P11416, P11473, P13053, P13631, P15204, P18113, P18115, P18117, P18119, P18514, P18911, P22448, P33242, P33244, P37242, P41235, P48281, P49700, P49701

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
NR0B2	down-regulates	NR5A2	binding
NR5A2	“up-regulates quantity by expression”	STAR	“transcriptional regulation”
NR5A2	“up-regulates quantity by expression”	CYP19A1	“transcriptional regulation”
NR5A2	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
NR5A2	“up-regulates quantity by expression”	CYP11B1	“transcriptional regulation”
PKA	“up-regulates activity”	NR5A2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

2263 predictions. Top by Δscore:

Variant	Effect	Δscore
1:200043772:A:AG	acceptor_gain	1.0000
1:200043773:G:GA	acceptor_gain	1.0000
1:200043773:GT:G	acceptor_gain	1.0000
1:200043967:C:G	donor_gain	1.0000
1:200044620:A:G	acceptor_gain	1.0000
1:200111197:TGCA:T	acceptor_loss	1.0000
1:200111198:GCA:G	acceptor_loss	1.0000
1:200111199:CA:C	acceptor_loss	1.0000
1:200111200:A:AC	acceptor_loss	1.0000
1:200111200:A:AG	acceptor_gain	1.0000
1:200111200:AG:A	acceptor_gain	1.0000
1:200111200:AGGTT:A	acceptor_gain	1.0000
1:200111201:G:GA	acceptor_gain	1.0000
1:200111201:GG:G	acceptor_gain	1.0000
1:200111201:GGT:G	acceptor_gain	1.0000
1:200111201:GGTT:G	acceptor_gain	1.0000
1:200111201:GGTTG:G	acceptor_gain	1.0000
1:200111289:G:GT	donor_gain	1.0000
1:200111290:A:T	donor_gain	1.0000
1:200111322:G:GG	donor_gain	1.0000
1:200120802:TTGCA:T	acceptor_loss	1.0000
1:200120803:TGCAG:T	acceptor_loss	1.0000
1:200120804:GCAGG:G	acceptor_loss	1.0000
1:200120805:CA:C	acceptor_loss	1.0000
1:200120806:A:AC	acceptor_loss	1.0000
1:200120806:A:AG	acceptor_gain	1.0000
1:200120806:AGGT:A	acceptor_gain	1.0000
1:200120807:G:GA	acceptor_loss	1.0000
1:200120807:G:GG	acceptor_gain	1.0000
1:200120807:GGTG:G	acceptor_gain	1.0000

AlphaMissense

3578 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:200043827:T:A	C86S	1.000
1:200043827:T:C	C86R	1.000
1:200043827:T:G	C86G	1.000
1:200043828:G:A	C86Y	1.000
1:200043828:G:C	C86S	1.000
1:200043828:G:T	C86F	1.000
1:200043829:T:G	C86W	1.000
1:200043834:T:A	V88E	1.000
1:200043836:T:A	C89S	1.000
1:200043836:T:C	C89R	1.000
1:200043836:T:G	C89G	1.000
1:200043837:G:A	C89Y	1.000
1:200043837:G:C	C89S	1.000
1:200043837:G:T	C89F	1.000
1:200043838:T:G	C89W	1.000
1:200043842:G:C	D91H	1.000
1:200043842:G:T	D91Y	1.000
1:200043843:A:C	D91A	1.000
1:200043843:A:G	D91G	1.000
1:200043843:A:T	D91V	1.000
1:200043849:T:A	V93E	1.000
1:200043851:T:C	S94P	1.000
1:200043852:C:A	S94Y	1.000
1:200043852:C:T	S94F	1.000
1:200043854:G:A	G95R	1.000
1:200043854:G:C	G95R	1.000
1:200043854:G:T	G95W	1.000
1:200043855:G:A	G95E	1.000
1:200043855:G:C	G95A	1.000
1:200043855:G:T	G95V	1.000

dbSNP variants (sampled 300 via entrez): RS1000006451 (1:200082291 A>C), RS1000009310 (1:200129200 T>C), RS1000040639 (1:200088666 C>T), RS1000052193 (1:200117555 T>A,C), RS1000067047 (1:200102418 C>T), RS1000086009 (1:200140594 A>G), RS1000118987 (1:200174537 T>C), RS1000122449 (1:200130959 A>G), RS1000130979 (1:200143108 G>T), RS1000137403 (1:200093142 G>A), RS1000144941 (1:200051281 G>A), RS1000162177 (1:200177281 C>G), RS1000162927 (1:200127212 C>A,T), RS1000213172 (1:200134174 G>T), RS1000215239 (1:200098264 C>T)

Disease associations

OMIM: gene MIM:604453 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): long QT syndrome (MONDO:0002442), primary ovarian failure (MONDO:0005387)

Orphanet (2): Microphthalmia-anophthalmia-coloboma (Orphanet:98555), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

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

GWAS associations

36 associations (top):

Study	Trait	p-value
GCST000574_2	Pancreatic cancer	2.000000e-10
GCST000963_2	Uric acid levels	7.000000e-06
GCST002541_34	Menarche (age at onset)	5.000000e-08
GCST002553_6	Pancreatic cancer	1.000000e-11
GCST002991_9	Pancreatic cancer	3.000000e-06
GCST003758_1	Pancreatic cancer	5.000000e-15
GCST003945_2	Hepcidin/transferrin saturation ratio	9.000000e-07
GCST003994_6	Age at voice drop	6.000000e-07
GCST003997_37	Myopia	3.000000e-17
GCST004071_1	Cerebrospinal T-tau levels	5.000000e-06
GCST004131_71	Inflammatory bowel disease	9.000000e-08
GCST004133_24	Ulcerative colitis	2.000000e-13
GCST004294_2	Nicotine dependence	4.000000e-06
GCST004744_70	Lung adenocarcinoma	4.000000e-06
GCST005434_11	Pancreatic cancer	3.000000e-15
GCST005434_17	Pancreatic cancer	8.000000e-16
GCST005537_121	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	4.000000e-15
GCST005562_1	Rheumatoid arthritis	2.000000e-06
GCST006019_22	Gamma glutamyl transferase levels	2.000000e-10
GCST006483_33	Lung function (FVC)	8.000000e-09
GCST006483_34	Lung function (FVC)	8.000000e-08
GCST006586_1	Urinary albumin excretion	2.000000e-08
GCST006958_2	Length of menstrual cycle	7.000000e-13
GCST007429_97	Lung function (FVC)	7.000000e-12
GCST007432_106	FEV1	3.000000e-08
GCST007762_1	Hyperinsulinemia x BMI interaction	1.000000e-08
GCST007768_1	Hyperinsulinemia in obesity	3.000000e-08
GCST008471_1	Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease	2.000000e-06
GCST009366_12	LDL cholesterol levels x long total sleep time interaction (2df test)	6.000000e-06
GCST009366_9	LDL cholesterol levels x long total sleep time interaction (2df test)	6.000000e-09

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0004761	uric acid measurement
EFO:0004703	age at menarche
EFO:0007902	hepcidin:transferrin saturation ratio
EFO:0007888	age at voice drop
EFO:0004760	t-tau measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004312	vital capacity
EFO:0004285	albuminuria
EFO:0004314	forced expiratory volume
EFO:0004340	body mass index
EFO:0008421	non-alcoholic fatty liver disease severity measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
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: yes

ChEMBL targets (1): CHEMBL3544 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: nhr — 5A. Fushi tarazu F1-like receptors

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
compound 6N [PMID: 31419141]	Agonist	7.82	pEC50
RJW100	Agonist	5.82	pEC50

Binding affinities (BindingDB)

18 measured of 23 human assays (23 total across all organisms); most potent 18 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
(3aS,6aR)-4-cyclohexyl-5-[(4E)-oct-4-en-4-yl]-N-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	12 nM
(3aS,6aR)-4-butyl-5-[(4E)-oct-4-en-4-yl]-N-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	22 nM
(3aS,6aR)-N-(2,3-dimethylphenyl)-5-hexyl-4-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	30 nM
(3aS,6aR)-5-hexyl-N,4-diphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	34 nM
(3aS,6aR)-4-(naphthalen-2-yl)-5-[(4E)-oct-4-en-4-yl]-N-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	60 nM
(3aS,6aR)-5-(hexan-2-yl)-N,4-diphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	70 nM
(3aS,6aR)-4-methyl-5-[(4E)-oct-4-en-4-yl]-N-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	90 nM
(3aS,6aR)-4-(3-methoxyphenyl)-5-[(4E)-oct-4-en-4-yl]-N-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	100 nM
(3aS,6aR)-N,4,5-triphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	150 nM
(3aS,6aR)-4-(4-bromophenyl)-5-[(4E)-oct-4-en-4-yl]-N-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	160 nM
(3aS,6aR)-5-cyclohexyl-N,4-diphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	230 nM
(3aS,6aR)-5-(decan-2-yl)-N,4-diphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	320 nM
(3aS,6aR)-N-(3-fluorophenyl)-5-hexyl-4-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	330 nM
bicyclo[3.3.0]-oct-2-ene, 5a	EC50	430 nM
(3aS,6aR)-N-(4-chlorophenyl)-5-hexyl-4-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	1000 nM
N-[(3aS,6aR)-5-hexyl-4-phenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-yl]naphthalen-1-amine	EC50	1200 nM
(3aS,6aR)-5-[(3E)-hex-3-en-3-yl]-N,4-diphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	1400 nM
(3aS,6aR)-5-methyl-N,4-diphenyl-1,2,3,3a,6,6a-hexahydropentalen-3a-amine	EC50	2100 nM

ChEMBL bioactivities

111 potent at pChembl≥5 of 115 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
9.82	Ki	0.15	nM	CHEMBL5177743
9.00	Kd	1	nM	CHEMBL4515639
8.89	Ki	1.3	nM	CHEMBL4551205
8.68	Ki	2.1	nM	CHEMBL4551205
8.57	Ki	2.7	nM	CHEMBL4551205
8.32	Kd	4.8	nM	CHEMBL4515639
8.28	Ki	5.3	nM	CHEMBL5198453
7.92	EC50	12	nM	CHEMBL384424
7.82	EC50	15	nM	CHEMBL4440757
7.75	Ki	18	nM	CHEMBL4644327
7.66	EC50	22	nM	CHEMBL425623
7.52	EC50	30	nM	CHEMBL216179
7.50	EC50	31.62	nM	CHEMBL384153
7.47	EC50	34	nM	CHEMBL384153
7.42	Ki	38	nM	CHEMBL4637563
7.40	EC50	40	nM	CHEMBL4447391
7.37	EC50	43	nM	CHEMBL5177743
7.25	Ki	56	nM	CHEMBL4645796
7.22	EC50	60	nM	CHEMBL216778
7.19	Ki	64.3	nM	CHEMBL4467442
7.16	EC50	70	nM	CHEMBL213816
7.09	Ki	81.4	nM	CHEMBL4288877
7.05	EC50	90	nM	CHEMBL214772
7.00	EC50	100	nM	CHEMBL410341
7.00	EC50	100	nM	CHEMBL4565513
7.00	EC50	100	nM	CHEMBL4551205
7.00	EC50	100	nM	CHEMBL1765932
6.92	Kd	120	nM	CHEMBL5177743
6.82	EC50	150	nM	CHEMBL409954
6.80	EC50	160	nM	CHEMBL384937
6.80	EC50	158.5	nM	CHEMBL1765955
6.70	EC50	199.5	nM	CHEMBL1765953
6.64	EC50	230	nM	CHEMBL217106
6.60	EC50	251.2	nM	CHEMBL1765962
6.60	EC50	251.2	nM	CHEMBL1765959
6.60	EC50	251.2	nM	CHEMBL1765945
6.60	EC50	251.2	nM	CHEMBL1765933
6.60	EC50	251.2	nM	CHEMBL1765956
6.55	Ki	280	nM	CHEMBL4638625
6.50	EC50	320	nM	CHEMBL214076
6.50	Kd	320	nM	CHEMBL4551205
6.50	IC50	320	nM	CHEMBL4303467
6.50	EC50	316.2	nM	CHEMBL1765958
6.50	EC50	316.2	nM	CHEMBL1765934
6.48	EC50	330	nM	CHEMBL217156
6.47	Kd	340	nM	CHEMBL5198453
6.47	Kd	340	nM	CHEMBL5177743
6.43	Ki	374	nM	CHEMBL1765959
6.40	EC50	400	nM	CHEMBL4288251
6.40	EC50	400	nM	CHEMBL4637563

PubChem BioAssay actives

128 with measured affinity, of 524 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
10-[(3aR,6S)-3-phenyl-3a-(1-phenylethenyl)-6-(sulfamoylamino)-4,5,6,6a-tetrahydro-1H-pentalen-2-yl]decanoic acid	1910026: Binding affinity to N-terminal 6-His tagged human LRH-1 LBD (299 to 541 residues) expressed in Escherichia coli BL21-(DE3) assessed as inhibition constant using 6N-FAM as substrate by fluorescence polarization competition assay	ki	0.0001	uM
10-[(3aR,6S,6aR)-3-phenyl-3a-(1-phenylethenyl)-6-(sulfamoylamino)-4,5,6,6a-tetrahydro-1H-pentalen-2-yl]-N-(3’,6’-dihydroxy-3-oxospiro[2-benzofuran-1,9’-xanthene]-5-yl)decanamide	1547895: Binding affinity to human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS measured after overnight incubation by fluorescence polarization assay	kd	0.0010	uM
(3S,6aR)-5-hexyl-6-phenyl-6a-(1-phenylethenyl)-3-(sulfamoylamino)-2,3,3a,4-tetrahydro-1H-pentalene	1910026: Binding affinity to N-terminal 6-His tagged human LRH-1 LBD (299 to 541 residues) expressed in Escherichia coli BL21-(DE3) assessed as inhibition constant using 6N-FAM as substrate by fluorescence polarization competition assay	ki	0.0013	uM
10-[(3aR,6R)-6-hydroxy-3-phenyl-3a-(1-phenylethenyl)-4,5,6,6a-tetrahydro-1H-pentalen-2-yl]decanoic acid	1910026: Binding affinity to N-terminal 6-His tagged human LRH-1 LBD (299 to 541 residues) expressed in Escherichia coli BL21-(DE3) assessed as inhibition constant using 6N-FAM as substrate by fluorescence polarization competition assay	ki	0.0053	uM
(3aS,6aR)-4-cyclohexyl-5-[(E)-oct-4-en-4-yl]-N-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.0120	uM
(3S,3aR,6aR)-5-hexyl-6-phenyl-6a-(1-phenylethenyl)-3-(sulfamoylamino)-2,3,3a,4-tetrahydro-1H-pentalene	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.0150	uM
10-[(3aS,6R,6aR)-6-hydroxy-3a-[(N-methylanilino)methyl]-3-phenyl-4,5,6,6a-tetrahydro-1H-pentalen-2-yl]decanoic acid	1664303: Displacement of 6N-FAM from human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS by competitive binding based fluorescence polarization assay	ki	0.0180	uM
(3aS,6aR)-4-butyl-5-[(E)-oct-4-en-4-yl]-N-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.0220	uM
(3aS,6aR)-N-(2,3-dimethylphenyl)-5-hexyl-4-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.0300	uM
(3aS,6aR)-5-hexyl-N,4-diphenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.0316	uM
(3S,3aR,6aS)-5-hexyl-6a-[(N-methylanilino)methyl]-6-phenyl-3-(sulfamoylamino)-2,3,3a,4-tetrahydro-1H-pentalene	1664303: Displacement of 6N-FAM from human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS by competitive binding based fluorescence polarization assay	ki	0.0380	uM
(3R,3aR,6aR)-5-hexyl-6-phenyl-6a-(1-phenylethenyl)-3-(sulfamoylamino)-2,3,3a,4-tetrahydro-1H-pentalene	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.0400	uM
(3S,3aR,6aR)-5-hexyl-6-phenyl-3-(sulfamoylamino)-1,2,3,3a,4,6a-hexahydropentalene	1664303: Displacement of 6N-FAM from human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS by competitive binding based fluorescence polarization assay	ki	0.0560	uM
(3aS,6aR)-4-naphthalen-2-yl-5-[(E)-oct-4-en-4-yl]-N-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.0600	uM
[1-[hydroxy-[(1R,2R,3S,4R,5R,6S)-2,3,6-trihydroxy-4,5-diphosphonooxycyclohexyl]oxyphosphoryl]oxy-3-octadecanoyloxypropan-2-yl] (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate	1547897: Displacement of 6N-FAM from human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS by competitive binding based fluorescence polarization assay	ki	0.0643	uM
(3aS,6aR)-5-hexan-2-yl-N,4-diphenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.0700	uM
[(2R)-2,3-di(dodecanoyloxy)propyl] 2-(trimethylazaniumyl)ethyl phosphate	1547897: Displacement of 6N-FAM from human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS by competitive binding based fluorescence polarization assay	ki	0.0814	uM
(3aS,6aR)-4-methyl-5-[(E)-oct-4-en-4-yl]-N-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.0900	uM
[(1S,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl] N-carbamoylsulfamate	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.1000	uM
(3aS,6aR)-4-(3-methoxyphenyl)-5-[(E)-oct-4-en-4-yl]-N-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.1000	uM
(3aR,6aS)-5-hexyl-6-phenyl-6a-phenylmethoxy-2,3,3a,4-tetrahydro-1H-pentalene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.1000	uM
(3aS,6aR)-N,4,5-triphenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.1500	uM
[(3aR,6aR)-3-phenyl-3a-(1-phenylethenyl)-4,5,6,6a-tetrahydro-1H-pentalen-2-yl]-dimethyl-phenylsilane	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.1585	uM
(3aS,6aR)-4-(4-bromophenyl)-5-[(E)-oct-4-en-4-yl]-N-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.1600	uM
(3aR,6aR)-5-butyl-6-phenyl-6a-(1-phenylethenyl)-2,3,3a,4-tetrahydro-1H-pentalene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.1995	uM
(3aS,6aR)-5-cyclohexyl-N,4-diphenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.2300	uM
(1R,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-ol	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.2512	uM
(3aR,6aR)-5-hexyl-6-phenyl-6a-(1-phenylethenyl)-2,3,3a,4-tetrahydro-1H-pentalene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.2512	uM
(3aR,6aR)-5-hexyl-6-(3-methoxyphenyl)-6a-(1-phenylethenyl)-2,3,3a,4-tetrahydro-1H-pentalene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.2512	uM
[(1S,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl] acetate	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.2512	uM
(3aR,7aR)-2-hexyl-3-phenyl-3a-(1-phenylethenyl)-1,4,5,6,7,7a-hexahydroindene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.2512	uM
10-[(3aR,6R,6aR)-6-hydroxy-3-phenyl-1,3a,4,5,6,6a-hexahydropentalen-2-yl]decanoic acid	1664303: Displacement of 6N-FAM from human LRH1 LBD (299 to 541 residues) expressed in Escherichia coli BL21 pLysS by competitive binding based fluorescence polarization assay	ki	0.2800	uM
(3aR,6aR)-5-hexyl-6a-[1-(3-methoxyphenyl)ethenyl]-6-phenyl-2,3,3a,4-tetrahydro-1H-pentalene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.3162	uM
(3aS,6aR)-2-benzyl-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-1,3,6,6a-tetrahydrocyclopenta[c]pyrrole	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.3162	uM
(3aS,6aR)-5-decan-2-yl-N,4-diphenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.3200	uM
3-cyclohexyl-6-[4-[3-(trifluoromethyl)phenyl]piperazin-1-yl]-1H-pyrimidine-2,4-dione	1926141: Inhibition of full length LRH1 transfected in HEK293T cells incubated for 20 hrs by luciferase reporter assay	ic50	0.3200	uM
(3aS,6aR)-N-(3-fluorophenyl)-5-hexyl-4-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.3300	uM
[(1R,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl] acetate	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.3981	uM
(1S,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-ol	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.3981	uM
10-[(3aR,6R,6aR)-6-hydroxy-3-phenyl-3a-(1-phenylethenyl)-4,5,6,6a-tetrahydro-1H-pentalen-2-yl]decanoic acid	1423039: Agonist activity at recombinant full length human LRH1 expressed in HeLa cells after 24 hrs by dual-glo luciferase reporter gene assay	ec50	0.4000	uM
(3aS,6aR)-5-[(E)-oct-4-en-4-yl]-N,4-diphenyl-2,3,6,6a-tetrahydro-1H-pentalen-3a-amine	1798186: FRET Assay for LRH-1 from Article 10.1021/jm060990k: “Identification of small molecule agonists of the orphan nuclear receptors liver receptor homolog-1 and steroidogenic factor-1.”	ec50	0.4300	uM
[(1S,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl]urea	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.5000	uM
[(2R,3aS,6aR)-5-hexyl-6-phenyl-6a-(1-phenylethenyl)-2,3,3a,4-tetrahydro-1H-pentalen-2-yl] acetate	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.5012	uM
[(1S,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl] sulfamate	1525792: Agonist activity at recombinant human LRH1 ligand binding domain (300 to 537 residues) expressed in Escherichia coli BL21 cells assessed as increase in fluorescein-labeled Tif2 peptide coactivator recruitment by fluorescence polarization assay	ec50	0.6000	uM
(3aR,6aS)-6a-cyclohexyloxy-5-hexyl-6-phenyl-2,3,3a,4-tetrahydro-1H-pentalene	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.7943	uM
3-[(3aR,6aS)-2-hexyl-6a-(1-phenylethenyl)-3a,4,5,6-tetrahydro-3H-pentalen-1-yl]propan-1-ol	593528: Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay relative to control	ec50	0.7943	uM
[(1R,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl] sulfamate	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.8000	uM
(1R,3aR,6aR)-5-hexyl-4-phenyl-3a-(3-phenylprop-1-en-2-yl)-2,3,6,6a-tetrahydro-1H-pentalen-1-ol	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.8000	uM
(1R,3aR,6aR)-5-hexyl-3a-[1-(2-methylphenyl)ethenyl]-4-phenyl-2,3,6,6a-tetrahydro-1H-pentalen-1-ol	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	0.9000	uM
1-[(1S,3aR,6aR)-5-hexyl-4-phenyl-3a-(1-phenylethenyl)-2,3,6,6a-tetrahydro-1H-pentalen-1-yl]triazole	1525783: Agonist activity at human full length LRH1 transfected in human HeLa cells incubated for 24 hrs by renilla luciferase reporter gene assay	ec50	1.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression, increases expression	5
Aflatoxin B1	decreases methylation, increases methylation, affects expression, decreases expression	4
bisphenol A	decreases methylation, decreases expression, increases expression, affects cotreatment	3
Tetrachlorodibenzodioxin	affects reaction, increases expression, decreases expression	3
arsenite	decreases expression, increases methylation	2
sodium arsenite	decreases expression	2
bisphenol S	affects cotreatment, decreases methylation, decreases expression	2
Fulvestrant	increases expression, affects cotreatment, decreases methylation	2
Acetaminophen	decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Cyclosporine	decreases expression	2
methylmercuric chloride	increases expression	1
lasiocarpine	decreases expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
LG 100268	decreases expression	1
obeticholic acid	decreases expression	1
7-(2-(2,2-difluoroethoxy)-3,5-di-tert-butylbenzene)-3-methylocta-2,4,6-trienoic acid	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects reaction, increases expression	1
GSK 8470	affects binding, increases activity, increases expression, increases reaction	1
jinfukang	decreases expression	1
MK-8776	decreases expression	1
Alitretinoin	affects cotreatment, decreases reaction, increases expression, increases reaction, decreases expression	1
Air Pollutants	decreases expression	1
Arsenic	affects methylation	1
Atrazine	increases activity	1
Blood Glucose	decreases abundance, decreases response to substance	1
Cadmium	increases expression	1

ChEMBL screening assays

254 unique, capped per target: 243 binding, 11 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1767446	Functional	Agonist activity at human LRH-1 receptor assessed as TIF2 737-757 peptide recruitment by TR-FRET assay	Small molecule agonists of the orphan nuclear receptors steroidogenic factor-1 (SF-1, NR5A1) and liver receptor homologue-1 (LRH-1, NR5A2). — J Med Chem
CHEMBL1767453	Binding	Agonist activity at human LRH-1 ligand binding domain with Coomassie blue staining by PAGE method	Small molecule agonists of the orphan nuclear receptors steroidogenic factor-1 (SF-1, NR5A1) and liver receptor homologue-1 (LRH-1, NR5A2). — J Med Chem

Cellosaurus cell lines

5 cell lines: 4 cancer cell line, 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4X7	SEES3-1V human NR5A2, clone1	Embryonic stem cell	Male
CVCL_B5KJ	HAP1 NR5A2 (-) 2	Cancer cell line	Male
CVCL_D1XV	Abcam A-549 NR5A2 KO	Cancer cell line	Male
CVCL_D2C4	Abcam HCT 116 NR5A2 KO	Cancer cell line	Male
CVCL_XR10	HAP1 NR5A2 (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
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
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT 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
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
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
NCT05906732	PHASE1/PHASE2	TERMINATED	Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176	Not specified	COMPLETED	Long QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250	Not specified	COMPLETED	Linkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367	Not specified	COMPLETED	Epidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832	Not specified	UNKNOWN	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032	Not specified	COMPLETED	Registry of Unexplained Cardiac Arrest
NCT00335036	Not specified	TERMINATED	Pediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412	Not specified	COMPLETED	ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254	Not specified	COMPLETED	The Long QT Syndrome in Pregnancy