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Gene id

3284

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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-beta,

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 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. [provided by RefSeq, Oct 2009]

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

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

Sequence

MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDV
SVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTW
PTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYV
GNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ

Structural information

Interpro:	IPR002225 IPR016040
Pfam:	PF01073
STRING:	ENSP00000358424;

Other Databases

GeneCards: HSD3B2; Malacards: HSD3B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	IDA	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	TAS	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	IDA	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0005743	mitochondrial inner membr ane	ISS	cellular_component
GO:0005758	mitochondrial intermembra ne space	ISS	cellular_component
GO:0005783	endoplasmic reticulum	NAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006694	steroid biosynthetic proc ess	IDA	biological_process
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006704	glucocorticoid biosynthet ic process	TAS	biological_process
GO:0006705	mineralocorticoid biosynt hetic process	TAS	biological_process
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0030868	smooth endoplasmic reticu lum membrane	ISS	cellular_component
GO:0031966	mitochondrial membrane	NAS	cellular_component
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0003824	catalytic activity	IEA	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	IEA	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	IEA	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	IDA	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	TAS	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	IEA	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	IDA	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0005739	mitochondrion	IEA	cellular_component
GO:0005743	mitochondrial inner membr ane	ISS	cellular_component
GO:0005758	mitochondrial intermembra ne space	ISS	cellular_component
GO:0005783	endoplasmic reticulum	IEA	cellular_component
GO:0005783	endoplasmic reticulum	NAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IDA	biological_process
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006704	glucocorticoid biosynthet ic process	TAS	biological_process
GO:0006705	mineralocorticoid biosynt hetic process	TAS	biological_process
GO:0008152	metabolic process	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	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 a s acceptor	IEA	molecular_function
GO:0016853	isomerase activity	IEA	molecular_function
GO:0030868	smooth endoplasmic reticu lum membrane	ISS	cellular_component
GO:0031966	mitochondrial membrane	IEA	cellular_component
GO:0031966	mitochondrial membrane	NAS	cellular_component
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	IDA	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	TAS	molecular_function
GO:0003854	3-beta-hydroxy-delta5-ste roid dehydrogenase activi ty	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	IDA	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0004769	steroid delta-isomerase a ctivity	TAS	molecular_function
GO:0005743	mitochondrial inner membr ane	ISS	cellular_component
GO:0005758	mitochondrial intermembra ne space	ISS	cellular_component
GO:0005783	endoplasmic reticulum	NAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006694	steroid biosynthetic proc ess	IDA	biological_process
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006704	glucocorticoid biosynthet ic process	TAS	biological_process
GO:0006705	mineralocorticoid biosynt hetic process	TAS	biological_process
GO:0016021	integral component of mem brane	NAS	cellular_component
GO:0030868	smooth endoplasmic reticu lum membrane	ISS	cellular_component
GO:0031966	mitochondrial membrane	NAS	cellular_component

KEGG pathways

hsa01100  Metabolic pathways
hsa00140  Steroid hormone biosynthesis
hsa04913  Ovarian steroidogenesis
hsa04925  Aldosterone synthesis and secretion

Diseases

Associated diseases	References
Adrenal hyperplasia	OMIM: 613890
Cancer	PMID: 19574343
Chronic obstructive pulmonary disease (COPD)	PMID: 19625176
Congenital adrenal hyperplasia	KEGG: H00216
Endometrial cancer	PMID: 19022561
Endometriosis	PMID: 19001523
Hirsutism	PMID: 15585552
Hyperandrogenism	PMID: 11287026
Hyperandrogenism	PMID: 25256274
Hypospadias	PMID: 14764821
Male pseudohermaphroditism (MPH)	PMID: 8185809
Polycystic ovary syndrome (PCOS)	PMID: 14764797
Endometriosis	INFBASE19001523
Primary ciliary dyskinesia	KEGG: H00564
Sertoli cell-only syndrome (SCOS)	PMID: 18082732

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19001523	Endometrio sis					StAR side chain cleavage P450 3beta-hydroxysteroid-dehydrogenase-2 17-hydroxylase/17-20-lyase aromatase SF1 COUP-TFII WT1	Show abstract