HSD17B3 - hydroxysteroid 17-beta dehydrogenase 3 Gene

Also Known as EDH17B3; SDR12C2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3293

About HSD17B3

Cytogenetic location: 9q22.32 Genomic coordinates (GRCh38): 9:96,235,306-96,311,062 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues, 25 paralogues and is associated with 2 phenotypes. Biased expression in testis (RPKM 7.7), small intestine (RPKM 0.7) and 4 other tissues.

Summary

This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]

HSD17B3 Products (1)

mRNA	Protein	Name
NM_000197.2	NP_000188.1	17-beta-hydroxysteroid dehydrogenase type 3

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables testosterone 17-beta-dehydrogenase (NADP+) activity	IDA IDA: Inferred from direct assay	26545797	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	26545797	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

HSD17B3 Protein Structure

adh_short

0
100
200
310 a.a.

Protein Preferred Names	Protein Names
17-beta-hydroxysteroid dehydrogenase type 3	17-beta-HSD 3

HSD17B3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HSD17B3	P37058	NCS1	Homo sapiens	P62166	Anti Tag CoIP	28514442
Intra	HSD17B3	P37058	NCS1	Homo sapiens	P62166	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	17-Ksr Deficiency Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency Pseudohermaphroditism, Male, With Gynecomastia 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency Testosterone 17-Beta-Dehydrogenase Deficiency 17-Ketosteroid Reductase Deficiency Of Testis 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Ketoreductase Deficiency 17-Ketosteroidreductase Deficiency 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency Male Pseudohermaphroditism With Gynecomastia 17 Alpha Ksr Deficiency 17 Alpha Ketosteroid Reductase Deficiency Of Testis 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency Male Pseudoherma-Phroditism With Gynecomastia Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency Male Pseudohermaphrodism With Gynecomastia MPH 17-Hydroxysteroid Dehydrogenase Deficiency
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
Gynecomastia
Hypospadias	Hypospadias Familial Familial Hypospadias
Leydig Cell Hypoplasia	46,Xy Disorder Of Sex Development Due To Lh Resistance Or Lhb Deficiency 46,Xy Disorder Of Sex Development Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Dsd Due To Lh Resistance Or Lhb Deficiency 46,Xy Dsd Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency 46,Xy Disorder Of Sex Development Due To Lh Defects Lh Resistance Due To Lh Receptor Deactivation Leydig Cell Agenesis Male Hypergonadotropic Hypogonadism Due To Lhcgr Defect Male Pseudohermaphroditism Due To Lh Resistance Or Lhb Deficiency Male Pseudohermaphroditism Due To Luteinizing Hormone Resistance Or Luteinizing Hormone Beta Subunit Deficiency Lch Hypoplasia, Leydig Cell
Androgen Insensitivity, Partial	Partial Androgen Insensitivity Syndrome Reifenstein Syndrome PAIS Androgen Insensitivity, Partial, With Or Without Breast Cancer Familial Incomplete Male Pseudohermaphroditism, Type 1 Androgen Insensitivity Syndrome, Partial Androgen Resistance Syndrome, Partial Reifenstein Syndrome, Partial Partial Androgen Resistance Syndrome Androgen Insensitivity Partial With Or Without Breast Cancer Androgen Insensitivity Syndrome Partial Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome
Adrenal Rest Tumor	Adrenal Rest Neoplasm
Persistent Mullerian Duct Syndrome	Persistent Müllerian Duct Syndrome Pmds Persistent Oviduct Syndrome Persistent Muellerian Duct Syndrome Female Genital Ducts In Otherwise Normal Male Hernia Uteri Inguinale Persistent Mullerian Duct Syndrome, Types 1 And 2 Persistent Mullerian Derivatives
Complete Androgen Insensitivity Syndrome	Cais Complete Androgen Resistance Syndrome Androgen Insensitivity Syndrome Complete Androgen Insensitivity, Complete Androgen-Insensitivity Syndrome Testicular Feminization
Alzheimer Disease 12	Ad12 Alzheimer'S Disease 12 Alzheimer Disease, Familial, 12 Alzheimer Disease Familial 12
Mixed Gonadal Dysgenesis	Gonadal Dysgenesis Mixed Gonadal Dysgenesis, Mixed
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
Freemartinism
Steroid Inherited Metabolic Disorder	Steroid Metabolism, Inborn Errors
Androgen Insensitivity Syndrome	Androgen Resistance Syndrome AIS Testicular Feminization Syndrome Androgen Receptor Deficiency Dhtr Deficiency Dihydrotestosterone Receptor Deficiency Ar Deficiency Testicular Feminization Tfm Androgen Insensitivity Androgen-Insensitivity Syndrome Goldberg-Maxwell Syndrome Complete Androgen Insensitivity Syndrome Cais Feminisation - Testicular Goldberg - Maxwell Syndrome Androgen Insensitivity Syndrome, Complete Morris Syndrome Ary AR Insensitivity Syndrome, Androgen Androgen Insensitivity Nos
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
46,Xx Sex Reversal	46,Xx Testicular Disorder Of Sex Development 46,Xx Testicular Dsd De La Chapelle Syndrome Srxx Xx, Male Syndrome 46, Xx Testicular Disorders Of Sex Development
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
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
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
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
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

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-RS06396	HSD17B3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HSD17B3	RGD	RGD:621805
Macaca mulatta	HSD17B3	VGNC	VGNC:73529
Canis familiaris	HSD17B3	VGNC	VGNC:41806
Felis catus	HSD17B3	VGNC	VGNC:67658
Mus musculus	HSD17B3	MGD	MGI:107177
Bos taurus	HSD17B3	VGNC	VGNC:29974
Others	HSD17B3	NCBI