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

Also Known as HSDB; HSD3B; SDR11E2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3284

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	References	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	References	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	References	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

HSD3B2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HSD3B2	P26439	GLE1	Homo sapiens	Q53GS7	Validated Y2H	32814053
Intra	HSD3B2	P26439	GLE1	Homo sapiens	Q53GS7	Y2H Array	32814053
Intra	HSD3B2	P26439	GLE1	Homo sapiens	Q53GS7	Y2H Pooling	32814053
Intra	HSD3B2	P26439	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	HSD3B2	P26439	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	HSD3B2	P26439	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	Unkown

Orthologs Information

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