HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2)

Gene

• Entrez ID: 3284
• Gene name: Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
• Gene symbol: HSD3B2
• Synonyms: HSD3B, HSDB, SDR11E2
• 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 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
rs80358221	C>T	Pathogenic	Missense variant, coding sequence variant
rs121964896	GT>AA	Pathogenic	Missense variant, coding sequence variant
rs121964897	C>T	Pathogenic	Missense variant, coding sequence variant
rs148200568	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs754609778	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs767128094	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs767167623	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs770815049	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1570822744	T>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1570823863	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

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
MIRT2245068	hsa-miR-214	CLIP-seq
MIRT2245069	hsa-miR-3619-5p	CLIP-seq
MIRT2245070	hsa-miR-3661	CLIP-seq
MIRT2245071	hsa-miR-4311	CLIP-seq
MIRT2245072	hsa-miR-492	CLIP-seq
MIRT2245073	hsa-miR-631	CLIP-seq
MIRT2245074	hsa-miR-761	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ENO1	Unknown	15642786
NR1H4	Unknown	19059462
NR4A1	Activation	15666793
NR4A1	Unknown	15208301;20083153;23874725
NR5A1	Activation	19022561
NR5A2	Activation	19022561
NR5A2	Unknown	23874725
SF1	Unknown	23874725
STAT6	Activation	15632317
YY1	Activation	15291746

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003854	Function	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA	1944309
GO:0003854	Function	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IMP	25322271
GO:0004769	Function	Steroid delta-isomerase activity	IDA	1944309
GO:0004769	Function	Steroid delta-isomerase activity	IMP	25322271
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005758	Component	Mitochondrial intermembrane space	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IMP	25322271
GO:0005783	Component	Endoplasmic reticulum	NAS	1944309
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006694	Process	Steroid biosynthetic process	IBA	21873635
GO:0006694	Process	Steroid biosynthetic process	IDA	1944309
GO:0006694	Process	Steroid biosynthetic process	IMP	25322271
GO:0006702	Process	Androgen biosynthetic process	IMP	25322271
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008207	Process	C21-steroid hormone metabolic process	IBA	21873635
GO:0016021	Component	Integral component of membrane	NAS	1944309
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	21873635
GO:0021766	Process	Hippocampus development	IBA	21873635
GO:0030868	Component	Smooth endoplasmic reticulum membrane	ISS
GO:0031966	Component	Mitochondrial membrane	NAS	1944309
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045171	Component	Intercellular bridge	IDA
GO:0051412	Process	Response to corticosterone	IBA	21873635
GO:0102294	Function	Cholesterol dehydrogenase activity	IEA

Other IDs

• MIM: 613890
• HGNC: 5218
• e!Ensembl: ENSG00000203859

Protein

• UniProt ID: 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

• Sequence:

  MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
  DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
  YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
  TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
  DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
  SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
  DRHKETLKSKTQ

• Sequence length: 372

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome

Reactome:

Androgen biosynthesis
Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
3 beta-hydroxysteroid dehydrogenase deficiency	3 beta-Hydroxysteroid dehydrogenase deficiency	rs80358216, rs770815049, rs80358217, rs28934880, rs80358218, rs80358219, rs80358220, rs80358221, rs767167623, rs121964897, rs767128094, rs754609778, rs148200568	10599696, 25526675, 7633460, 22579964, 7608265, 8126127, 10651755, 8316254, 7962268, 7633426, 10843183, 7833923, 8060486, 8185809, 7893703, 9719627, 12050213, 18252794
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098	18252794
Cryptorchidism	Cryptorchidism, Bilateral Cryptorchidism, Unilateral Cryptorchidism, Abdominal Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886	26050606
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17823934

Unknown
Disease name	Disease term	dbSNP ID	References
Acne	Acne
Adrenal hyperplasia	Adrenal hyperplasia, Adrenal hyperplasia 2
Adrenogenital syndrome	Adrenogenital Syndrome
Ambiguous genitalia	Ambiguous Genitalia, Ambiguous genitalia, female	rs782562963
Deficiency of testosterone biosynthesis	Deficiency of testosterone biosynthesis
Ectopic adrenal gland	Ectopic adrenal gland
Enlarged polycystic ovaries	Enlarged polycystic ovaries
Gynecomastia	Gynecomastia
Hypernatriuria	Hypernatriuria
Hypertrophy of clitoris	Hypertrophy of clitoris
Hypospadias	Hypospadias, perineal, Hypospadias		14764821
Liver carcinoma	Liver carcinoma		19363144
Male pseudohermaphroditism	Male Pseudohermaphroditism
Hypoglycemia	Neonatal hypoglycemia
Sclerocystic ovaries	Sclerocystic Ovaries		22381227
Paranoia	Paranoia		22356824
Penis agenesis	Penis agenesis
Polycystic ovary syndrome	Polycystic Ovary Syndrome		22381227
Precocious pubarche	Precocious pubarche
Premature adrenarche	Premature adrenarche
Prostatic neoplasms	Prostatic Neoplasms		17823934