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

Homo sapiens

Also known as HSDB; HSD3B; SDR11E2

Gene ID: 3284 | Gene type: protein coding

About HSD3B2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,414,931-119,423,034 (from NCBI)

This gene has 6 transcripts (splice variants), 370 orthologues, 10 paralogues and is associated with 2 phenotypes. Restricted expression toward adrenal (RPKM 1042.2).

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 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]

HSD3B2 Products(2)

mRNA	Protein	Name
NM_000198.4	NP_000189.1	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
NM_001166120.2	NP_001159592.1	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity	IDA IDA: Inferred from direct assay	1944309	GOA
enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity	IMP IMP: Inferred from mutant phenotype	25322271	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA
enables steroid delta-isomerase activity	IDA IDA: Inferred from direct assay	1944309	GOA
enables steroid delta-isomerase activity	IMP IMP: Inferred from mutant phenotype	25322271	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in androgen biosynthetic process	IMP IMP: Inferred from mutant phenotype	25322271	GOA
involved in steroid biosynthetic process	IDA IDA: Inferred from direct assay	1944309	GOA
involved in steroid biosynthetic process	IMP IMP: Inferred from mutant phenotype	25322271	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	25322271	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HSD3B2 Protein Structure

3Beta_HSD

0
100
200
300
372 a.a.

Protein Preferred Names

Protein Names

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

3 beta-HSD type II

Related Diseases

Diseases

Alias

Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency

3 Beta-Hydroxysteroid Dehydrogenase Deficiency	3-Beta-Hsd Deficiency
Adrenal Hyperplasia 2	Adrenal Hyperplasia Ii
3-Beta-Hydroxysteroid Dehydrogenase Deficiency	3b-Hydroxysteroid Dehydrogenase Deficiency
Cah Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hsdb	Hsd3b Deficiency
Type Ii 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	3 Beta-Hsd Deficiency
3 Beta-Ol Dehydrogenase Deficiency	3β-Hsd Deficiency
3β-Hsd Deficiency Congenital Adrenal Hyperplasia	3β-Hydroxysteroid Dehydrogenase Deficiency
Type Ii 3β-Hydroxysteroid Dehydrogenase Deficiency	3 Beta Hydroxysteroid Dehydrogenase Deficiency
Congenital Adrenal Hyperplasia Due To 3 Beta-Hydroxysteroid Dehydrogenase Deficiency	AH2
3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency	Adrenal Hyperplasia Type Ii
Ah-Ii	Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Type Ii Deficiency

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia	Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Congenital Lipoid Adrenal Hyperplasia	Lipoid Cah
Lipoid Adrenal Hyperplasia	Adrenal Hyperplasia 1
Cah	Clah
LCAH	Adrenal Hyperplasia I
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism	Congenital Adrenal Hyperplasia Lipoid
Adrenal Hyperplasia, Congenital	Congenital Adrenal Hyperplasia, Lipoid
AH1	Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
Adrenal Hyperplasia Congenital	Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency	Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Gland Hyperplasia	Congenital Adrenogenital Syndrome
Congenital Hyperadrenocorticism	Congenital Adrenogenitalism
Congenital Female Adrenal Pseudohermaphroditism

Pseudohermaphroditism

Indeterminate Sex And Pseudohermaphroditism

Adrenal Rest Tumor

Adrenal Rest Neoplasm

Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome	Pcos
Polycystic Ovarian Disease	Polycystic Ovaries
Stein-Leventhal Syndrome	Multicystic Ovaries
Polycystic Ovary	Sclerocystic Ovaries
Sclerocystic Ovary Syndrome	Stein-Leventhal Synd.
Cystic Disease Of Ovaries	Cystic Disease Of Ovary
Pco	Pcod
Sclerocystic Ovarian Degeneration	Polycystic Ovary Syndrome, Susceptibility To
Pcos - [Polycystic Ovary Syndrome]	Polycystic Ovary Nos
Pco - [Polycystic Ovary]

Hyperandrogenism

Hyperandrogenization Syndrome

Hypospadias

Hypospadias Familial

Familial Hypospadias

Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete

P450scc Deficiency	Congenital Adrenal Insufficiency
Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete	46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency
Xy Sex Reversal-Adrenal Failure	Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
AICSR	Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete
Adrenal Insufficiency, Congenital	Congenital Adrenal Hyperplasia
Adrenogenital Syndrome

Steroid Inherited Metabolic Disorder

Steroid Metabolism, Inborn Errors

Cytochrome P450 Oxidoreductase Deficiency

Por Deficiency	Pord
Antley-Bixler Syndrome With Disordered Steroidogenesis	Antley-Bixler Syndrome
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis	Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase
Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency	Antley-Bixler Syndrome, Autosomal Dominant

Adrenal Carcinoma

Adrenal Cancer	Adrenal Gland Cancer
Malignant Neoplasm Of Adrenal Gland	Adrenal Gland Neoplasms
Carcinoma Of The Adrenal Gland	Adrenal Neoplasm
Malignant Adrenal Tumor	Neoplasm Of Adrenal Gland
Tumor Of The Adrenal Gland	Adrenal Gland Neoplasm
Adrenocortical Carcinoma	Adrenal Gland Malignancy
Suprarenal Cancer	Malignant Neoplasm Of Suprarenal Gland
Malignant Neoplasm Of Adrenal Gland, Unspecified	Malignant Tumour Of Adrenal Gland
Suprarenal Gland Cancer	Primary Malignant Neoplasm Of Adrenal Gland

Hypoadrenocorticism, Familial

Addison Disease	Primary Adrenocortical Insufficiency
Addison'S Disease	Adrenal Gland Hypofunction
Adrenal Hypoplasia	Adrenal Aplasia
Addison Disease, Chronic Adrenal Insufficiency	Primary Hypoadrenalism
Hypoadrenocorticism Familial	Autoimmune Addison Disease
Autoimmune Adrenalitis	Classic Addison Disease
Primary Addison Disease	Addisons Disease
Addison Disease, Susceptibility To	Autoimmune Primary Adrenal Insufficiency
Addison'S Disease Due To Autoimmunity

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

46,Xy Sex Reversal 2

Dosage-Sensitive Sex Reversal	Dss
SRXY2	46,Xy Sex Reversal, Dax1-Related
46xy Sex Reversal 2, Dosage-Sensitive	46,Xy Sex Reversal Dax1-Related

Adrenal Hypoplasia, Congenital

X-Linked Adrenal Hypoplasia Congenita	Congenital Adrenal Hypoplasia
AHC	Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism
Adrenal Hypoplasia Congenita	X-Linked Ahc
Ahch	Ahx
Ahc With Hhg	Cytomegalic Adrenocortical Hypoplasia
Ahc With Isolated Gonadotropin Deficiency	X-Linked Congenital Adrenal Hypoplasia
Congenital Adrenal Hypoplasia, X-Linked	Addison Disease, X-Linked
Primary Adrenal Hypoplasia	Adrenal Hypoplasia Congenital, X-Linked
X-Linked Addison Disease	X-Linked Adrenal Hypoplasia Congenital
Congenital Hypoplasia Of Adrenal Gland	Congenital Adrenal Gland Hypoplasia
Congenital Small Adrenal Gland	Adrenal Hypoplasia
Cah - [Congenital Adrenal Hypoplasia]

Corticosterone Methyloxidase Type I Deficiency

Cmo I Deficiency	Aldosterone Deficiency I
Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase	18-Hydroxylase Deficiency
Hypoaldosteronism, Congenital, Due To Cmo I Deficiency	Corticosterone Methyloxidase Deficiency 1
Corticosterone Methyloxidase Type 1 Deficiency	Hyperreninemic Hypoaldosteronism, Familial, 1
Fhha1a	Steroid 18-Hydroxylase Deficiency
Aldosterone Synthase Deficiency	18 Hydroxylase Deficiency
18 Alpha Hydroxylase Deficiency	Aldosterone Deficiency 1
Aldosterone Deficiency Due To Defect In 18 Hydroxylase	Cmo 1 Deficiency
Corticosterone Methyloxidase 1 Deficiency	CMO-1 DEFICIENCY
Aldosterone Deficiency Due To Defect In 18-Hydroxylase	Corticosterone Methyl Oxidase Type I Deficiency
Corticosterone Methyl Oxidase Type Ii Deficiency

Familial Glucocorticoid Deficiency

Glucocorticoid Deficiency	Acth Resistance
Adrenal Unresponsiveness To Acth	Hereditary Unresponsiveness To Adrenocorticotropic Hormone
Isolated Glucocorticoid Deficiency	Glucocorticoid Deficiency, Familial
Glucocorticoid Deficiency 1

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Adrenal Cortex Disease

Adrenal Cortex Diseases

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma	Adrenal Cortex Carcinoma
Carcinoma Of The Adrenal Cortex	Acc
Adrenocortical Cancer	Carcinoma Adrenocortical

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06402	HSD3B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HSD3B2	RGD	RGD:67377
Macaca mulatta	HSD3B2	VGNC	VGNC:99971

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