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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3284
Gene name Gene Name - the full gene name approved by the HGNC.	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HSD3B2
Synonyms (NCBI Gene) Gene synonyms aliases	HSD3B, HSDB, SDR11E2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p12
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

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

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

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
3 beta-hydroxysteroid dehydrogenase deficiency	3 beta-hydroxysteroid dehydrogenase deficiency	rs80358221, rs80358216, rs767167623, rs770815049, rs121964897, rs80358217, rs767128094, rs28934880, rs80358218, rs754609778, rs80358219, rs148200568, rs80358220	N/A
Congenital adrenal hyperplasia	congenital adrenal hyperplasia	rs80358220, rs80358221, rs80358217, rs767128094, rs754609778	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Ependymoma	ependymoma	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)