Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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
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

Show/Hide all (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
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

Show/Hide all (10)

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

Show/Hide all (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
GO:0004769	Function	Steroid Delta-isomerase activity	IEA
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
GO:0005739	Component	Mitochondrion	IEA
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	IEA
GO:0005783	Component	Endoplasmic reticulum	IMP	25322271
GO:0005783	Component	Endoplasmic reticulum	NAS	1944309
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005929	Component	Cilium	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IBA
GO:0006694	Process	Steroid biosynthetic process	IDA	1944309
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IMP	25322271
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	IMP	25322271
GO:0008207	Process	C21-steroid hormone metabolic process	IBA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	1944309
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030868	Component	Smooth endoplasmic reticulum membrane	ISS
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031966	Component	Mitochondrial membrane	NAS	1944309
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA

MIM	HGNC	e!Ensembl
613890	5218	ENSG00000203859

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

MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
DRHKETLKSKTQ

Sequence length

372

Interactions

View interactions

	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

151

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 RCV003464287 RCV003237406 RCV000012967 RCV000012968 RCV001275503 RCV000012971 RCV000012972 RCV000012973 RCV000012974 RCV000012975 RCV000012976 RCV000012977 RCV005012933 RCV003459900 RCV003459912 RCV003459923 RCV005013027 RCV005013056 RCV005003726 RCV000603955 RCV003460995 RCV001830636 RCV001580573 RCV001536075 RCV001833816 RCV001833981
Congenital adrenal hyperplasia	Pathogenic; Likely pathogenic	rs756607591, rs1388517943, rs2526391378, rs765547422, rs2526393548, rs80358217, rs80358220, rs80358221, rs1248094870, rs767128094, rs754609778, rs762479018, rs781213951	RCV005406272 RCV005432872 RCV002281875 RCV002302451 RCV002302452 RCV004767003 RCV002271368 RCV002222349 RCV003324316 RCV002298708 RCV002469276 RCV001806054 RCV003486965
HSD3B2-related disorder	Likely pathogenic; Pathogenic	rs2526391147, rs762479018, rs781213951	RCV003410454 RCV004754704 RCV003405390
Hypospadias 1, X-linked	Likely pathogenic	rs2101349426	RCV003110130

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs121964896	-
Ependymoma	Uncertain significance	rs985808078	RCV000577852

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	25120827
Adrenal Gland Neoplasms	Associate	35757411
Adrenal hyperplasia 2	Associate	27796263, 33757164, 35757411
Adrenal hyperplasia 2	Inhibit	27796263
Adrenal Hyperplasia Congenital	Associate	27626911, 27796263, 32072793, 33757164, 36553457, 37274334
Adrenal Insufficiency	Associate	33757164
Adrenal Rest Tumor	Associate	27476613, 35757411
Adrenocortical Adenoma	Associate	25120827
Autism Spectrum Disorder	Inhibit	33024080
Carcinogenesis	Associate	23284679
Colitis Ulcerative	Associate	38001042
COVID 19	Associate	37246981
Crohn Disease	Associate	38001042
Endometriosis	Associate	29664547
Hyperaldosteronism	Associate	23257735, 24423300, 25458695, 30580688
Hyperandrogenism	Associate	11287026
Hypospadias	Associate	33757164
Hypothyroidism Congenital Nongoitrous 2	Associate	25120827
Learning Disabilities	Associate	35757411
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa	Stimulate	18082732
MASS syndrome	Associate	35757411
Neoplasm Metastasis	Inhibit	24244276
Ovarian Neoplasms	Associate	28391539, 32590918
Personality Disorders	Associate	17823934
Polycystic Ovary Syndrome	Associate	23874725, 29206944, 35757411
Polycystic Ovary Syndrome	Inhibit	38069013
Prostatic Neoplasms	Associate	17823934, 23258647, 33509203
Sertoli Cell Only Syndrome	Stimulate	18082732
Sexual Dysfunction Physiological	Associate	33757164
Spondylodysplasia And Premature Pubarche	Associate	11287026, 35757411
Taste Disorders	Associate	32072793
Urinary Bladder Neoplasms	Associate	23284679
Virilism	Associate	10973654

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