Gene Gene information from NCBI Gene database.
Entrez ID 3284
Gene name Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Gene symbol HSD3B2
Synonyms (NCBI Gene)
HSD3BHSDBSDR11E2
Chromosome 1
Chromosome location 1p12
Summary 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
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs28934880 C>A,T Pathogenic Coding sequence variant, missense variant
rs80358216 G>A Pathogenic Coding sequence variant, stop gained
rs80358218 A>C,G Pathogenic Terminator codon variant, stop lost
rs80358219 G>A,T Pathogenic Missense variant, coding sequence variant, stop gained
rs80358220 C>A,G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT018040 hsa-miR-335-5p Microarray 18185580
MIRT1055497 hsa-miR-1197 CLIP-seq
MIRT1055498 hsa-miR-3117-3p CLIP-seq
MIRT2245066 hsa-miR-1286 CLIP-seq
MIRT2245067 hsa-miR-1827 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
ENO1 Unknown 15642786
NR1H4 Unknown 19059462
NR4A1 Activation 15666793
NR4A1 Unknown 15208301;20083153;23874725
NR5A1 Activation 19022561
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0003854 Function 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity IDA 1944309
GO:0003854 Function 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity IEA
GO:0003854 Function 3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity IMP 25322271
GO:0004769 Function Steroid Delta-isomerase activity IDA 1944309
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613890 5218 ENSG00000203859
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26439
Protein name 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II) (3-beta-HSD II) (3-beta-HSD adrenal and gonadal type) [Includes: 3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC 1.1.1.1
Protein 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 cl
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01073 3Beta_HSD 6 287 3-beta hydroxysteroid dehydrogenase/isomerase family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adrenal gland, testis and ovary.
Sequence
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome
  Androgen biosynthesis
Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
3 beta-Hydroxysteroid dehydrogenase deficiency Pathogenic; Likely pathogenic rs766474996, rs757033996, rs756663759, rs756607591, rs2101350289, rs1266831898, rs1651905495, rs80358216, rs770815049, rs80358217, rs28934880, rs80358218, rs80358219, rs80358220, rs80358221
View all (15 more)
RCV001831404
RCV001836390
RCV001782270
RCV005008420
RCV005006306
View all (26 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia Pathogenic; Likely pathogenic rs756607591, rs1388517943, rs2526391378, rs765547422, rs2526393548, rs80358217, rs80358220, rs80358221, rs1248094870, rs767128094, rs754609778, rs762479018, rs781213951 RCV005406272
RCV005432872
RCV002281875
RCV002302451
RCV002302452
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HSD3B2-related disorder Likely pathogenic; Pathogenic rs2526391147, rs762479018, rs781213951 RCV003410454
RCV004754704
RCV003405390
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypospadias 1, X-linked Likely pathogenic rs2101349426 RCV003110130
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE DEFICIENCY GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRYPTORCHIDISM CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ependymoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency UNIPROT_DG 10599696, 10651755, 10843183, 12050213, 18252794, 22579964, 7608265, 7633426, 7633460, 7833923, 7893703, 7962268, 8060486, 8126127, 8185809
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency BEFREE 10651755, 10843183, 12428206, 15585552, 18252794, 22343390, 25211449, 26079780
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency CLINVAR_DG 18252794
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency CTD_human_DG 25526675
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency ORPHANET_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
3 beta-Hydroxysteroid dehydrogenase deficiency 3 beta-hydroxysteroid dehydrogenase deficiency GENOMICS_ENGLAND_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abdominal Cryptorchidism Cryptorchidism CTD_human_DG 26050606
★☆☆☆☆
Found in Text Mining only
Acne Acne HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenal Cortical Adenoma Adrenocortical adenoma LHGDN 18505908
★☆☆☆☆
Found in Text Mining only
Adrenal hyperplasia Adrenal hyperplasia HPO_DG
★☆☆☆☆
Found in Text Mining only