HSD3B2

Summary

HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2, HGNC:5218) is a protein-coding gene on chromosome 1p12, encoding 3 beta-hydroxysteroid dehydrogenase/Delta 5–>4-isomerase type 2 (P26439). 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids.

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 3284 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (Strong, GenCC)
• Clinical variants (ClinVar): 436 total — 35 pathogenic, 35 likely-pathogenic
• Phenotypes (HPO): 51
• Druggable target: yes
• MANE Select transcript: NM_000198

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5218
Approved symbol	HSD3B2
Name	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Location	1p12
Locus type	gene with protein product
Status	Approved
Aliases	SDR11E2
Ensembl gene	ENSG00000203859
Ensembl biotype	protein_coding
OMIM	613890
Entrez	3284

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000369416, ENST00000433745, ENST00000443865, ENST00000448448, ENST00000471656, ENST00000543831, ENST00000902254, ENST00000948746, ENST00000948747, ENST00000948748, ENST00000948749

RefSeq mRNA: 2 — MANE Select: NM_000198 NM_000198, NM_001166120

CCDS: CCDS902

Canonical transcript exons

ENST00000369416 — 4 exons

Exon	Start	End
ENSE00001449988	119415150	119415202
ENSE00001897109	119421809	119423034
ENSE00003588695	119415331	119415561
ENSE00003615231	119419418	119419582

Expression profiles

Bgee: expression breadth ubiquitous, 157 present calls, max score 99.86.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.7517 / max 2877.3958, expressed in 17 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4920	1.7517	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland	UBERON:0001233	99.86	gold quality
right adrenal gland cortex	UBERON:0035827	99.86	gold quality
adrenal cortex	UBERON:0001235	99.77	gold quality
left adrenal gland	UBERON:0001234	99.75	gold quality
left adrenal gland cortex	UBERON:0035825	99.73	gold quality
adrenal gland	UBERON:0002369	96.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.69	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.64	gold quality
adrenal tissue	UBERON:0018303	75.50	gold quality
oocyte	CL:0000023	73.03	gold quality
mucosa of transverse colon	UBERON:0004991	72.44	gold quality
small intestine	UBERON:0002108	71.44	gold quality
transverse colon	UBERON:0001157	69.77	gold quality
placenta	UBERON:0001987	68.70	gold quality
ileal mucosa	UBERON:0000331	68.61	silver quality
secondary oocyte	CL:0000655	68.38	gold quality
right coronary artery	UBERON:0001625	68.22	gold quality
vermiform appendix	UBERON:0001154	67.59	gold quality
right uterine tube	UBERON:0001302	64.61	gold quality
metanephros cortex	UBERON:0010533	64.20	gold quality
endothelial cell	CL:0000115	63.06	gold quality
caecum	UBERON:0001153	63.05	gold quality
islet of Langerhans	UBERON:0000006	63.00	gold quality
right lobe of liver	UBERON:0001114	62.56	gold quality
intestine	UBERON:0000160	62.06	gold quality
rectum	UBERON:0001052	61.20	gold quality
pancreas	UBERON:0001264	60.06	gold quality
ectocervix	UBERON:0012249	59.80	gold quality
body of pancreas	UBERON:0001150	59.71	gold quality
large intestine	UBERON:0000059	59.25	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CEBPB, DGKQ, DMRT1, ENO1, FOS, GATA4, GATA6, HIF1A, JUN, NCOA1, NR1H4, NR2F2, NR3C1, NR4A1, NR5A1, NR5A2, SF1, STAT5A, STAT6, TCF3, TFAP2C, YY1

miRNA regulators (miRDB)

27 targeting HSD3B2, 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-1252-5P	100.00	69.80	2774
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-7978	99.86	66.90	856
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3160-5P	99.28	69.07	1938
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-4691-3P	98.11	66.83	1204
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-203B-3P	97.82	66.27	979
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-6888-5P	95.89	63.78	831
HSA-MIR-1256	95.44	66.33	784
HSA-MIR-4423-5P	95.24	64.42	454

Literature-anchored findings (GeneRIF, showing 40)

• Structure/function relationships responsible for the kinetic differences between isoforms (PMID:12205101)
• Substantially higher affinity of 3beta-HSD1 activity for substrate and inhibitor steroids relative to the 3beta-HSD2 enzyme. (PMID:12530651)
• LRH-1 is highly expressed in corpus luteum, and it plays an essential role in the regulation of HSD3B2. (PMID:14671206)
• Subtle molecular abnormalities in HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias. This finding is uncommon. (PMID:14764821)
• Transcription enhancer factor-5 and the GATA-like protein act in a coordinate manner to determine the placental-specific expression of the human 3betaHSD I enzyme (PMID:15131259)
• regulation of transcription by NGFIB (PMID:15208301)
• Nur77 is an important regulator of HSD3B2 promoter activity (PMID:15498889)
• HSD3B2 is upregulated by the nerve growth factor-induced clone B family of transcription factors. (PMID:15615861)
• HSD3B2 promoter (hHSD3B2), which contains four consensus GATA elements, constitutes an important target for GATA factors. (PMID:15928316)
• Differences in fibroblast-derived glucocorticoid production (via the enzyme 11beta-HSD1) between cells from distinct anatomical locations may play a key role in the predeliction of certain tissues to develop persistent inflammation. (PMID:16846535)
• There is a possible role in human disease of common genetic variation in HSD3B1 and HSD3B2. (PMID:17689071)
• HSD3B2 (TG)n,(TA)n,(CA)n intron 3 length polymorphism is associated with both prostate cancer risk and aggressiveness. (PMID:17823934)
• Lower 3beta-hydroxysteroid dehydrogenase type 2 but higher 17,20-lyase activity in NCI-H295R cells explaining the ‘androgenic’ steroid profile for these cells and resembling the zona reticularis of the human adrenal cortex. (PMID:18000308)
• characterization of 3 novel homozygous mutations in HSD3B2 gene in patients with classic salt-losing 3beta-HSD deficiency; study concludes the C-terminal part of type II 3beta-HSD protein is essential for correct functioning & processing of the molecule (PMID:18252794)
• In cortices attached to adrenocortical adenomas, HSD3B2 mRNA was expressed in zona glomerulosa and zona fasciculata, but only sporadically in zona reticularis. (PMID:18505908)
• Structure/function of the inhibition of HSD3B2 by trilostane is reported. (PMID:18524572)
• Anti-inflammatory effects of IL-1alpha and IL-4 on 3beta-HSD2 mRNA involve a p38 MAPK signalling pathway, whereas pro-inflammatory response of IL-1alpha to 3beta-HSD1 mRNA involves a NF-kappaB inflammatory pathway. (PMID:18778748)
• 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)
• In human adrenal cells, FXR increases transcription and expression of HSD3B2. (PMID:19059462)
• NGFI-B family members induced promoter activity of 3-beta-hydroxysteroid-dehydrogenase type 2 (HSD3B2), 21-hydroxylase (CYP21A2), and aldosterone synthase (CYP11B2). (PMID:19158234)
• 3beta-HSD protein was immunodetectable in primary ascites of women who were diagnosed with epithelial ovarian cancer but mRNA transcripts of both 3beta-hydroxysteroid dehydrogenase type 1 and type 2 were diminished relative to normal cells. (PMID:19414525)
• SNPs located within the HSD3B2 gene were not associated with essential hypertension. (PMID:20660004)
• Human adrenal cells that express both 3beta-hydroxysteroid dehydrogenase type 2 (HSD3B2) and cytochrome b5 (CYB5A) contribute to adrenal androstenedione production (PMID:21185375)
• 3beta-hydroxysteroid dehydrogenase type 2 (PMID:21930695)
• Data suggest that HSD3B2 interacts/unfolds in presence of specific liposomes (unilamellar liposomes of DPPG/DPPC). This lipid-mediated unfolding completely supports model in which cavity forms between alpha-helix and beta-sheet to activate enzyme. (PMID:22106846)
• Mitochondrial HSD3B2 activity requires reversible pH-dependent conformational change at the intermembrane space. (PMID:22262841)
• snps in HSD3B2 was in men associated with a lower risk of paranoid ideation. (PMID:22356824)
• The aim of this haplotype-based case-control study was to estimate whether polymorphisms of the maternal estrogen synthesis genes (CYP19A1, HSD3B1 and HSD3B2) are associated with preeclampsia and gestational hypertension (PMID:22638611)
• The cause of adrenocortical insufficiency in the studied family appears to be two novel homozygous mutations in the 3beta-HSD gene. (PMID:23026940)
• low ratio of cytochrome P450 family 17/3 beta-hydroxysteroid dehydrogenase type II with high expression of steroid 11-beta-monooxygenase seems to explain steroidogenic characteristics of aldosterone-producing adenomas (PMID:23257735)
• HSD3B SNP and gene-gene interactions in genetic susceptibility to bladder cancer (PMID:23284679)
• Interleukin-4 and prostaglandin E2 synergistically up-regulate 3beta-hydroxysteroid dehydrogenase type 2 in endometrioma stromal cells. (PMID:23450050)
• Risk-conferring genetic variations in the HSD3beta gene influenced susceptibility of primary aldosteronism. Concomitant presence of rs6203 CC and rs12410453 GA genotypes synergistically increased aldosterone-to-renin ratio (PMID:24006038)
• the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower. (PMID:24244276)
• both area and ratio of 3betaHSD and CYB5A double positive cells, which could represent the hybrid cells of zona fasciculate and zona reticularis, are correlated with adrenal development and could influence age-related serum androstenedione levels. (PMID:24832628)
• Results indicate that orexin-A significantly enhanced the expression of 3beta-hydroxysteroid dehydrogenase (3beta-HSD) and the production of cortisol, and increased the phosphorylation of AKT protein in the NCI-H295R adrenocortical cells. (PMID:25319929)
• HSD3B1 is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 mutation in aldosterone-producing adenoma. (PMID:25458695)
• Patients with HSD3B2 deficiency and 21-hydroxylase deficiency suffer similar morbid complications from under- and overtreatment, but HSD3B2 deficiency is associated with a distinctive pattern of sex steroid dysmetabolism. (PMID:26079780)
• The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), cytochrome P450 17 alpha-hydroxylase (P450c17) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases. (PMID:27060902)
• the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3beta-HSD2 structure and function. (PMID:27082427)

Cross-species orthologs

17 orthologs

Organism	Symbol	Gene ID
danio_rerio	tdh2	ENSDARG00000001463
danio_rerio	hsd3b2	ENSDARG00000019747
danio_rerio	hsd3b1	ENSDARG00000069926
mus_musculus	Hsd3b6	ENSMUSG00000027869
mus_musculus	Hsd3b1	ENSMUSG00000027871
mus_musculus	Hsd3b5	ENSMUSG00000038092
mus_musculus	Hsd3b3	ENSMUSG00000062410
mus_musculus	Hsd3b2	ENSMUSG00000063730
mus_musculus	Hsd3b9	ENSMUSG00000090817
mus_musculus	Hsd3b4	ENSMUSG00000095143
mus_musculus	Hsd3b8	ENSMUSG00000095388
rattus_norvegicus	Hsd3b5	ENSRNOG00000019417
rattus_norvegicus	Hsd3b2	ENSRNOG00000019441
rattus_norvegicus	Hsd3b5-ps1	ENSRNOG00000070670
rattus_norvegicus	Hsd3b1	ENSRNOG00000080702
caenorhabditis_elegans		WBGENE00022498
caenorhabditis_elegans		WBGENE00022616

Paralogs (10): TGDS (ENSG00000088451), HSD3B7 (ENSG00000099377), GFUS (ENSG00000104522), GMDS (ENSG00000112699), UXS1 (ENSG00000115652), GALE (ENSG00000117308), NSDHL (ENSG00000147383), SDR42E2 (ENSG00000183921), SDR42E1 (ENSG00000184860), HSD3B1 (ENSG00000203857)

Protein

Protein identifiers

3 beta-hydroxysteroid dehydrogenase/Delta 5–>4-isomerase type 2 — P26439 (reviewed: P26439)

Alternative names: 3 beta-hydroxysteroid dehydrogenase/Delta 5–>4-isomerase type II, 3-beta-HSD adrenal and gonadal type

All UniProt accessions (2): P26439, Q5QP01

UniProt curated annotations — full annotation on UniProt →

Function. 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.

Subcellular location. Endoplasmic reticulum membrane. Mitochondrion membrane.

Tissue specificity. Expressed in adrenal gland, testis and ovary.

Disease relevance. Adrenal hyperplasia 2 (AH2) [MIM:201810] A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: ‘salt wasting’ (SW, the most severe type), ‘simple virilizing’ (SV, less severely affected patients), with normal aldosterone biosynthesis, ’non-classic form’ or late-onset (NC or LOAH) and ‘cryptic’ (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. The disease is caused by variants affecting the gene represented in this entry. Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.

Pathway. Lipid metabolism; steroid biosynthesis.

Similarity. Belongs to the 3-beta-HSD family.

Isoforms (2)

UniProt ID	Names	Canonical?
P26439-1	1	yes
P26439-2	2

RefSeq proteins (2): NP_000189, NP_001159592 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002225	3Beta_OHSteriod_DH/Estase	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily
IPR050177	Lipid_A_modif_metabolic_enz	Family

Pfam: PF01073

Enzyme classification (BRENDA):

• EC 1.1.1.145 — 3beta-hydroxy-DELTA5-steroid dehydrogenase (BRENDA: 24 organisms, 157 substrates, 162 inhibitors, 249 Km, 139 kcat entries)
• EC 5.3.3.1 — steroid DELTA-isomerase (BRENDA: 15 organisms, 48 substrates, 67 inhibitors, 98 Km, 86 kcat entries)

Substrate kinetics (BRENDA)

96 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
DEHYDROEPIANDROSTERONE	0.0001–0.2419	66
5-ANDROSTENE-3,17-DIONE	0.0001–0.548	65
NAD+	—	43
PREGNENOLONE	—	21
NADH	0.0025–0.106	8
ANDROSTENE-3,17-DIONE	0.023–0.0735	6
DEHYDROEPIANDROSTERONE	0.0175–0.0884	6
5(10)-ESTRENE-3,17-DIONE	0.0328–0.256	5
5-PREGNENE-3,20-DIONE	0.0093–0.068	5
16ALPHA-HYDROXY-DEHYDROEPIANDROSTERONE	0.004–0.0196	4
16BETA-HYDROXY-DEHYDROEPIANDROSTERONE	0.0014–0.0184	4
5BETA-PREGNANE-3,20-DIONE	0.0029–1.725	3
NADP+	0.0003–13	3
17ALPHA-HYDROXYPREGNENOLONE	0.0035–0.018	2
4-NITROBENZALDEHYDE	1.966–13	2

Catalyzed reactions (Rhea), 6 shown:

• a 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)-steroid (RHEA:14709)
• a 3beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH + H(+) (RHEA:24076)
• pregnenolone + NAD(+) = pregn-5-ene-3,20-dione + NADH + H(+) (RHEA:43924)
• pregn-5-ene-3,20-dione = progesterone (RHEA:43928)
• 3beta-hydroxyandrost-5-en-17-one + NAD(+) = androst-5-ene-3,17-dione + NADH + H(+) (RHEA:43932)
• androst-5-ene-3,17-dione = androst-4-ene-3,17-dione (RHEA:43936)

UniProt features (40 total): sequence variant 31, sequence conflict 3, splice variant 2, chain 1, transmembrane region 1, active site 1, binding site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P26439-F1	94.30	0.85

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 (1): 154 (proton acceptor)

Ligand- & substrate-binding residues (1): 158

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-193048	Androgen biosynthesis
R-HSA-193993	Mineralocorticoid biosynthesis
R-HSA-194002	Glucocorticoid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-196071	Metabolism of steroid hormones
R-HSA-556833	Metabolism of lipids
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 256 (showing top): GOBP_C21_STEROID_HORMONE_METABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, CAGGTCC_MIR492, LEE_LIVER_CANCER_CIPROFIBRATE_DN, MORF_RAD51L3, GOMF_STEROID_DEHYDROGENASE_ACTIVITY_ACTING_ON_THE_CH_OH_GROUP_OF_DONORS_NAD_OR_NADP_AS_ACCEPTOR, GOBP_ANDROGEN_BIOSYNTHETIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, MORF_CTSB, GOBP_HORMONE_BIOSYNTHETIC_PROCESS, MORF_PRKCA, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_DN, GOBP_STEROID_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ANDROGEN_METABOLIC_PROCESS

GO Biological Process (4): steroid biosynthetic process (GO:0006694), androgen biosynthetic process (GO:0006702), C21-steroid hormone metabolic process (GO:0008207), lipid metabolic process (GO:0006629)

GO Molecular Function (7): 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity (GO:0003854), steroid Delta-isomerase activity (GO:0004769), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), isomerase activity (GO:0016853)

GO Cellular Component (14): nucleolus (GO:0005730), cytoplasm (GO:0005737), mitochondrial inner membrane (GO:0005743), mitochondrial intermembrane space (GO:0005758), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), membrane (GO:0016020), smooth endoplasmic reticulum membrane (GO:0030868), mitochondrial membrane (GO:0031966), ciliary transition zone (GO:0035869), intercellular bridge (GO:0045171), mitochondrion (GO:0005739)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Metabolism of steroid hormones	3
Metabolism of steroids	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
steroid metabolic process	2
catalytic activity	2
mitochondrial envelope	2
cytoplasm	2
intracellular membrane-bounded organelle	2
organelle membrane	2
lipid biosynthetic process	1
androgen metabolic process	1
hormone biosynthetic process	1
steroid hormone biosynthetic process	1
hormone metabolic process	1
primary metabolic process	1
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
intramolecular oxidoreductase activity, transposing C=C bonds	1
oxidoreductase activity, acting on CH-OH group of donors	1
molecular_function	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
organelle inner membrane	1
mitochondrial membrane	1
organelle envelope lumen	1
endomembrane system	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
endoplasmic reticulum membrane	1
smooth endoplasmic reticulum	1
bounding membrane of organelle	1
mitochondrion	1
cilium	1

Protein interactions and networks

STRING

2927 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSD3B2	CYP17A1	P05093	929
HSD3B2	CYP11A1	P05108	925
HSD3B2	CYP11B1	P15538	895
HSD3B2	HSD17B3	P37058	875
HSD3B2	CYP21A2	P04033	824
HSD3B2	SRD5A1	P18405	816
HSD3B2	AKR1C3	P42330	815
HSD3B2	STAR	P49675	808
HSD3B2	DHRS11	Q6UWP2	808
HSD3B2	CYP11B2	P19099	794
HSD3B2	SULT2A1	Q06520	736
HSD3B2	CYP19A1	P11511	736
HSD3B2	SRD5A2	P31213	723
HSD3B2	NR4A1	P22736	713
HSD3B2	HSD17B2	P37059	701

IntAct

9 interactions, top by confidence:

A	B	Type	Score
HSD3B2	GLE1	psi-mi:“MI:0915”(physical association)	0.560
HSD3B2	SPRED1	psi-mi:“MI:0915”(physical association)	0.560
HSD3B2	NARS1	psi-mi:“MI:0914”(association)	0.530

BioGRID (32): HSD3B2 (Synthetic Lethality), HSD3B1 (Affinity Capture-MS), TMEM38A (Affinity Capture-MS), MTHFR (Affinity Capture-MS), TOP2B (Affinity Capture-MS), HIST2H3PS2 (Affinity Capture-MS), TOP2A (Affinity Capture-MS), CTSF (Affinity Capture-MS), WBP11 (Affinity Capture-MS), PC (Affinity Capture-MS), H2AFY (Affinity Capture-MS), LETM1 (Affinity Capture-MS), NARS (Affinity Capture-MS), HIST1H2AG (Affinity Capture-MS), DDX46 (Affinity Capture-MS)

ESM2 similar proteins: A0PJE2, A5PJM4, A7YVH9, B4F6I3, B5FXE5, D3ZDM7, D4A2H2, O15269, O35296, O35469, O35704, O54695, O64489, O88736, P09367, P11172, P13439, P20132, P24815, P26439, P31228, P31754, P56937, Q2KIJ5, Q3TMV7, Q3TY86, Q5R514, Q5R9T5, Q5REJ2, Q60555, Q60HD1, Q62904, Q64421, Q68FS6, Q6GLW8, Q6IQS6, Q6PBT5, Q80SY6, Q8BUE4, Q8CCT7

Diamond homologs: A0A7H0DNE2, A4TSC8, A6NKP2, A7FCU3, A9R683, B1JQW4, B2FI29, B2JYP2, C0Q1V2, C0QZ84, C4K8I6, O35048, O35296, O35469, O46516, O57245, P14060, P14893, P21097, P22071, P22072, P24815, P26149, P26150, P26439, P26670, P27364, P27365, P33794, P9WQP6, P9WQP7, Q1C276, Q1CD11, Q31FG4, Q57IC3, Q5IFP1, Q60555, Q61694, Q61767, Q62878

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
NR4A1	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
NR5A1	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
NR5A2	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
JUN	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
FOS	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
STAT6	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	HSD3B2	“transcriptional regulation”
HSD3B2	“up-regulates quantity”	progesterone	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	35
Likely pathogenic	35
Uncertain significance	109
Likely benign	209
Benign	9

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1076576	NM_000198.4(HSD3B2):c.707del (p.Ala235_Leu236insTer)	Pathogenic
12184	NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	Pathogenic
12185	NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)	Pathogenic
12191	NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	Pathogenic
12193	NM_000198.4(HSD3B2):c.867del (p.Met290fs)	Pathogenic
12194	NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)	Pathogenic
1389517	NM_000198.4(HSD3B2):c.892del (p.Glu298fs)	Pathogenic
1445872	NM_000198.4(HSD3B2):c.216C>A (p.Cys72Ter)	Pathogenic
1456481	NM_000198.4(HSD3B2):c.690G>A (p.Trp230Ter)	Pathogenic
1457738	NM_000198.4(HSD3B2):c.299A>G (p.Asn100Ser)	Pathogenic
1459401	NC_000001.10:g.(?119964988)(119988456_?)del	Pathogenic
1513071	NM_000198.4(HSD3B2):c.35G>A (p.Gly12Glu)	Pathogenic
1722337	NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)	Pathogenic
1913134	NM_000198.4(HSD3B2):c.742_746delinsAACT (p.Val248fs)	Pathogenic
1964067	NM_000198.4(HSD3B2):c.307+1G>A	Pathogenic
2086405	NM_000198.4(HSD3B2):c.154_162delinsTCCTGTT (p.Arg52fs)	Pathogenic
2100356	NM_000198.4(HSD3B2):c.620del (p.Asn207fs)	Pathogenic
2128395	NM_000198.4(HSD3B2):c.343_749del (p.Val116fs)	Pathogenic
2425620	NC_000001.10:g.(?119466351)(120286570_?)del	Pathogenic
2577239	NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)	Pathogenic
2674668	NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)	Pathogenic
2697329	NM_000198.4(HSD3B2):c.133G>T (p.Glu45Ter)	Pathogenic
2731762	NM_000198.4(HSD3B2):c.180del (p.Asp61fs)	Pathogenic
2733970	NM_000198.4(HSD3B2):c.503del (p.Ala168fs)	Pathogenic
2733971	NM_000198.4(HSD3B2):c.652T>C (p.Ser218Pro)	Pathogenic
2737086	NM_000198.4(HSD3B2):c.546T>A (p.Cys182Ter)	Pathogenic
2748075	NM_000198.4(HSD3B2):c.1A>T (p.Met1Leu)	Pathogenic
2836644	NM_000198.4(HSD3B2):c.574dup (p.Glu192fs)	Pathogenic
2865706	NM_000198.4(HSD3B2):c.76A>T (p.Lys26Ter)	Pathogenic
3707034	NM_000198.4(HSD3B2):c.447dup (p.Trp150fs)	Pathogenic

SpliceAI

631 predictions. Top by Δscore:

Variant	Effect	Δscore
1:119415557:TTCTA:T	donor_gain	1.0000
1:119415558:TCTA:T	donor_gain	1.0000
1:119415559:CTA:C	donor_gain	1.0000
1:119415559:CTAG:C	donor_loss	1.0000
1:119415560:TA:T	donor_gain	1.0000
1:119415561:AG:A	donor_loss	1.0000
1:119415562:G:GG	donor_gain	1.0000
1:119415562:G:T	donor_loss	1.0000
1:119415563:T:A	donor_loss	1.0000
1:119419579:AAAG:A	donor_gain	1.0000
1:119415552:G:GT	donor_gain	0.9900
1:119415565:A:AG	donor_gain	0.9900
1:119415566:G:GG	donor_gain	0.9900
1:119417487:G:GT	donor_gain	0.9900
1:119419413:CACAG:C	acceptor_gain	0.9900
1:119419414:ACAGA:A	acceptor_gain	0.9900
1:119419416:A:AG	acceptor_gain	0.9900
1:119419417:G:GG	acceptor_gain	0.9900
1:119419417:GA:G	acceptor_gain	0.9900
1:119419580:AAG:A	donor_loss	0.9900
1:119419581:AG:A	donor_loss	0.9900
1:119419582:GG:G	donor_loss	0.9900
1:119419583:GTA:G	donor_loss	0.9900
1:119419584:T:G	donor_loss	0.9900
1:119421802:T:TA	acceptor_gain	0.9900
1:119421803:G:A	acceptor_gain	0.9900
1:119421807:AGGTA:A	acceptor_loss	0.9900
1:119421808:G:GA	acceptor_loss	0.9900
1:119415564:AAG:A	donor_loss	0.9800
1:119419415:CAGAG:C	acceptor_gain	0.9800

AlphaMissense

2423 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:119421868:A:C	S123R	0.990
1:119421870:T:A	S123R	0.990
1:119421870:T:G	S123R	0.990
1:119421975:A:C	K158N	0.989
1:119421975:A:T	K158N	0.989
1:119421970:A:C	S157R	0.985
1:119421972:C:A	S157R	0.985
1:119421972:C:G	S157R	0.985
1:119422182:C:A	N227K	0.983
1:119422182:C:G	N227K	0.983
1:119419575:T:A	N100K	0.981
1:119419575:T:G	N100K	0.981
1:119421834:T:G	C111W	0.981
1:119421974:A:T	K158I	0.981
1:119422055:G:C	R185T	0.981
1:119421869:G:T	S123I	0.980
1:119422056:A:C	R185S	0.980
1:119422056:A:T	R185S	0.980
1:119421871:A:C	S124R	0.978
1:119421873:C:A	S124R	0.978
1:119421873:C:G	S124R	0.978
1:119422270:G:C	D257H	0.975
1:119421872:G:T	S124I	0.970
1:119422543:G:C	A348P	0.970
1:119419508:T:A	V78D	0.968
1:119419582:G:C	G103R	0.967
1:119422457:T:A	V319D	0.967
1:119422052:T:C	L184S	0.966
1:119422181:A:T	N227I	0.966
1:119422271:A:T	D257V	0.965

dbSNP variants (sampled 300 via entrez): RS1000529839 (1:119417967 G>A,C), RS1000542650 (1:119422863 C>G), RS1001190934 (1:119417606 G>A), RS1001223504 (1:119417246 C>A,T), RS1002486537 (1:119418802 C>A), RS1002763129 (1:119420199 C>T), RS1002900390 (1:119415763 C>A), RS1003203191 (1:119414489 T>A), RS1003226615 (1:119419979 C>A), RS1003433319 (1:119420957 T>G), RS1003878635 (1:119420534 A>T), RS1004004075 (1:119421505 A>G,T), RS1004114999 (1:119415022 G>A,T), RS1004569740 (1:119414741 T>C,G), RS1004711071 (1:119418195 T>C)

Disease associations

OMIM: gene MIM:613890 | disease phenotypes: MIM:201810, MIM:102500, MIM:300633, MIM:601815

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	Strong	Autosomal recessive

Mondo (6): congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (MONDO:0008727), congenital adrenal hyperplasia (MONDO:0018479), acroosteolysis dominant type (MONDO:0007057), hypospadias 1, X-linked (MONDO:0010384), PHGDH deficiency (MONDO:0011152), ependymoma (MONDO:0016698)

Orphanet (6): Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency (Orphanet:90791), Congenital adrenal hyperplasia (Orphanet:418), Hajdu-Cheney syndrome (Orphanet:955), OBSOLETE: Familial hypospadias (Orphanet:440), 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form (Orphanet:79351), Ependymoma (Orphanet:251636)

HPO phenotypes

51 total (30 of 51 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000033	Ambiguous genitalia, male
HP:0000037	Male pseudohermaphroditism
HP:0000047	Hypospadias
HP:0000048	Bifid scrotum
HP:0000051	Perineal hypospadias
HP:0000054	Micropenis
HP:0000061	Ambiguous genitalia, female
HP:0000062	Ambiguous genitalia
HP:0000127	Renal salt wasting
HP:0000771	Gynecomastia
HP:0000808	Penoscrotal hypospadias
HP:0000846	Adrenal insufficiency
HP:0000848	Increased circulating renin concentration
HP:0000953	Hyperpigmentation of the skin
HP:0001007	Hirsutism
HP:0001263	Global developmental delay
HP:0001508	Failure to thrive
HP:0001944	Dehydration
HP:0001998	Neonatal hypoglycemia
HP:0002013	Vomiting
HP:0002153	Hyperkalemia
HP:0002615	Hypotension
HP:0002902	Hyponatremia
HP:0003577	Congenital onset
HP:0004319	Decreased circulating aldosterone concentration
HP:0008163	Decreased circulating cortisol level
HP:0008221	Adrenal hyperplasia

GWAS associations

0 associations (top):

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D000312	Adrenal Hyperplasia, Congenital	C12.050.351.875.253.090.500; C12.200.706.316.090.500; C12.800.316.090.500; C16.131.939.316.129.500; C16.320.033; C16.320.565.925.249; C18.452.648.925.249; C19.053.440; C19.391.119.090.500
D004806	Ependymoma	C04.557.465.625.600.380.290; C04.557.470.670.380.290; C04.557.580.625.600.380.290
C535663	Acroosteolysis dominant type (supp.)
C538236	Adrenal hyperplasia 2 (supp.)
C567482	Hypospadias 1, X-Linked (supp.)
C566618	Phosphoglycerate Dehydrogenase Deficiency (supp.)
C537586	Serpentine fibula polycystic kidney syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3670 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: enzyme — 1.-.-.- Oxidoreductases

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
trilostane	Inhibition	8.4	pIC50

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
5.33	IC50	4700	nM	CHEMBL1829763

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 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
(6S)-3-[(1S)-1-[4-(2,4-difluorophenyl)phenyl]ethyl]-6-(4-fluorophenyl)-6-(2-hydroxyethyl)-1,3-oxazinan-2-one	618810: Inhibition of 3 beta-HSD2	ic50	4.7000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Colforsin	decreases reaction, increases expression, affects cotreatment, decreases expression	11
8-Bromo Cyclic Adenosine Monophosphate	increases expression, decreases reaction, affects cotreatment, decreases expression	4
Flame Retardants	decreases expression, increases expression	3
Mitotane	decreases reaction, increases expression, decreases expression	3
Valproic Acid	decreases activity, decreases expression, decreases reaction, increases expression	3
bisphenol A	decreases expression	2
tributyltin	increases expression, decreases expression	2
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	2
perfluorooctane sulfonic acid	decreases expression, increases expression	2
bifenthrin	decreases reaction, increases expression, decreases expression	2
Pioglitazone	decreases activity, decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Diethylhexyl Phthalate	affects cotreatment, affects reaction, increases expression, decreases expression	2
Water Pollutants, Chemical	increases expression	2
Halogenated Diphenyl Ethers	increases expression	2
fluorene-9-bisphenol	increases expression, decreases expression, decreases reaction	1
triptolide	affects cotreatment, decreases expression	1
perflubron	increases expression	1
2,4,6-tribromophenol	increases expression	1
daidzein	decreases reaction, increases expression	1
alternariol	increases expression	1
deoxynivalenol	increases expression	1
diethyl phthalate	affects reaction, increases expression, affects cotreatment	1
4-nitro-3-cresol	affects cotreatment, decreases expression	1
4,4’-bisphenol F	decreases expression	1
2,4,5,2’,5’-pentachlorobiphenyl	increases expression	1
diisononyl phthalate	affects cotreatment, affects reaction, increases expression	1
2,4-dibromophenol	increases expression	1
2-acetyltributylcitrate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1273475	Binding	Inhibition of 3betaHSD2	Discovery and optimization of adamantyl carbamate inhibitors of 11β-HSD1. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03760835	PHASE4	RECRUITING	Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment
NCT04536662	PHASE4	UNKNOWN	Comparisons of Different Forms of Glucocorticoid on the Recovery of Reproductive Function in Patients With 21α-hydroxylase Deficiency
NCT00001521	PHASE3	COMPLETED	Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia
NCT02716818	PHASE3	COMPLETED	Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia
NCT03062280	PHASE3	COMPLETED	A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH
NCT03532022	PHASE3	WITHDRAWN	Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy
NCT04490915	PHASE3	ACTIVE_NOT_RECRUITING	Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia
NCT04806451	PHASE3	ACTIVE_NOT_RECRUITING	Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)
NCT05063994	PHASE3	COMPLETED	Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia
NCT05299554	PHASE3	COMPLETED	Long-term Safety Study of Chronocort in the Treatment of Participants With Congenital Adrenal Hyperplasia
NCT07144163	PHASE3	RECRUITING	A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
NCT00517959	PHASE3	UNKNOWN	SCRT Versus Conventional RT in Children and Young Adults With Low Grade and Benign Brain Tumors
NCT01096368	PHASE3	COMPLETED	Maintenance Chemotherapy or Observation Following Induction Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Ependymoma
NCT00621985	PHASE2	COMPLETED	Dexamethasone Treatment of Congenital Adrenal Hyperplasia
NCT01735617	PHASE2	COMPLETED	Pilot Study to Characterize and Examine the Pharmacokinetics and Efficacy of Chronocort® in Adults With CAH
NCT01771328	PHASE2	UNKNOWN	Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia
NCT01859312	PHASE2	COMPLETED	Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia
NCT02804178	PHASE2	COMPLETED	A Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia
NCT03257462	PHASE2	COMPLETED	Study of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia
NCT03548246	PHASE2	WITHDRAWN	Androgen Reduction in Congenital Adrenal Hyperplasia
NCT03669549	PHASE2	TERMINATED	Nevanimibe HCl for the Treatment of Classic CAH
NCT03687242	PHASE2	COMPLETED	Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia
NCT04457336	PHASE2	TERMINATED	A Ph2b to Evaluate Clinical Efficacy and Safety of Tildacerfont in Adult CAH
NCT04544410	PHASE2	TERMINATED	A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH
NCT05128942	PHASE2	TERMINATED	A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children Aged 2-17 Years With CAH
NCT05907291	PHASE2	COMPLETED	Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
NCT06712823	PHASE2	RECRUITING	An Extension Study to Evaluate Safety and Efficacy in Participants Treated With CRN04894
NCT07187375	PHASE2	RECRUITING	Pharmacokinetics, Safety and Tolerability of Crinecerfont in Participants With Congenital Adrenal Hyperplasia Who Are Less Than 2 Years Old
NCT07536269	PHASE2	NOT_YET_RECRUITING	Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old
NCT00003479	PHASE2	TERMINATED	Antineoplaston Therapy in Treating Patients With Ependymoma
NCT00520936	PHASE2	COMPLETED	A Study of Pemetrexed in Children With Recurrent Cancer
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01088035	PHASE2	TERMINATED	Carboplatin as a Radiosensitizer in Treating Childhood Ependymoma
NCT01247922	PHASE2	TERMINATED	Single-agent Erlotinib in Patients Previously Treated With Oral Etoposide in Protocol OSI-774-205
NCT01288235	PHASE2	COMPLETED	Proton Radiotherapy for Pediatric Brain Tumors Requiring Partial Brain Irradiation
NCT01295944	PHASE2	COMPLETED	Carboplatin and Bevacizumab for Recurrent Ependymoma
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT01836549	PHASE2	TERMINATED	Imetelstat Sodium in Treating Younger Patients With Recurrent or Refractory Brain Tumors
NCT02125786	PHASE2	ACTIVE_NOT_RECRUITING	A Trial of Surgery and Fractionated Re-Irradiation for Recurrent Ependymoma
NCT02689336	PHASE2	WITHDRAWN	Erlotinib in Combination With Temozolomide in Treating Relapsed/Recurrent/Refractory Pediatric Solid Tumors