• Gene id: 3284

Gene Summary

• Gene Symbol: HSD3B2   Gene   UCSC   Ensembl
• Aliases: HSD3B, HSDB, SDR11E2
• Gene name: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
• Alternate names: 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2, 3 beta-HSD type II, 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II, 3-,
• Gene location: 1p12 (119414930: 119423038)     Exons: 5     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 613890

Protein Summary

• Protein general information: P26439  
  • 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
  • Length: 372  
  • Mass: 42,052
• Sequence:

  MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDV
  SVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTW
  PTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYV
  GNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
  SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ

• Structural information:
  • Interpro: IPR002225  IPR036291  
  • STRING: ENSP00000358424
• Other Databases: GeneCards:  HSD3B2  Malacards:  HSD3B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	IDA	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005758	mitochondrial intermembrane space	ISS	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0030868	smooth endoplasmic reticulum membrane	ISS	cellular component
GO:0031966	mitochondrial membrane	NAS	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	IEA	molecular function
GO:0004769	steroid delta-isomerase activity	IDA	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005758	mitochondrial intermembrane space	ISS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0030868	smooth endoplasmic reticulum membrane	ISS	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0031966	mitochondrial membrane	NAS	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IDA	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	IDA	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0004769	steroid delta-isomerase activity	TAS	molecular function
GO:0005743	mitochondrial inner membrane	ISS	cellular component
GO:0005758	mitochondrial intermembrane space	ISS	cellular component
GO:0005783	endoplasmic reticulum	NAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:0030868	smooth endoplasmic reticulum membrane	ISS	cellular component
GO:0031966	mitochondrial membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03022	Basal transcription factors
hsa03015	mRNA surveillance pathway
hsa03015	mRNA surveillance pathway
hsa04012	ErbB signaling pathway
hsa04913	Ovarian steroidogenesis
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cancer	GAD: 19574343
Cancer (bladder)	GAD: 19692168
Cancer (esophageal)	GAD: 20453000
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 18636124
Cancer (prostate)	GAD: 11912155
Cancer (breast)	GAD: 20634197
Cancer (thyroid)	GAD: 15767343
Hypertension	GAD: 20660004
Primary ciliary dyskinesia	KEGG: H00564
Hyperandrogenism	GAD: 11287026
Obesity	GAD: 20734064
Bone diseases	GAD: 19453261
Precocious puberty	GAD: 16648810
Hypospadias	GAD: 14764821
Polycystic ovary syndrome (PCOS)	INFBASE: 14764797
Precocious puberty	INFBASE: 8185809
Congenital adrenal hyperplasia	KEGG: H00216
Sertoli cell only syndrome (SCOS)	MIK: 18082732
Male factor infertility	MIK: 18082732
Male pseudohermaphroditism	MIK: 8185809
Spermatogenesis defects	MIK: 18082732
Hirsutism	GAD: 15585552
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Male infertility	MIK: 18082732
Spermatogenic failure	MIK: 18082732
Sertoli- cell only syndrome	MIK: 18082732
Male pseudohermaphroditism	MIK: 8185809
Premature pubarche	MIK: 8185809
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
18082732	Male infertility, Spermatogenic failure, Sertoli- cell only syndrome			34 azoospermic men	Male infertility	GnRH-I GnRH-II GnRH-R CYP11A1 HSD3B2
8185809	Male pseudohermaphroditism, premature pubarche	A82T			Male infertility, Female infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)