SRD5A2 - steroid 5 alpha-reductase 2 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6716

About SRD5A2

Cytogenetic location: 2p23.1 Genomic coordinates (GRCh38): 2:31,522,480-31,663,009 (from NCBI)

This gene has 1 transcript (splice variant), 265 orthologues, 3 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 13.3), prostate (RPKM 8.5) and 2 other tissues.

Summary

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

SRD5A2 Products (1)

mRNA	Protein	Name
NM_000348.4	NP_000339.2	3-oxo-5-alpha-steroid 4-dehydrogenase 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity	IDA IDA: Inferred from direct assay	1944596	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables testosterone dehydrogenase [NAD(P)+] activity	IDA IDA: Inferred from direct assay	10898110	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in androgen metabolic process	IDA IDA: Inferred from direct assay	1944596	GOA
involved in male gonad development	IMP IMP: Inferred from mutant phenotype	1944596	GOA
involved in testosterone biosynthetic process	IDA IDA: Inferred from direct assay	10898110	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

Protein Preferred Names	Protein Names
3-oxo-5-alpha-steroid 4-dehydrogenase 2	5 alpha-SR2

SRD5A2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SRD5A2	P31213	CLPTM1	Homo sapiens	O96005	Anti Tag CoIP	33961781
Intra	SRD5A2	P31213	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	SRD5A2	P31213	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	SRD5A2	P31213	GNMT	Homo sapiens	Q14749	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

SRD5A2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81206	SRD5A2 Antibody (YA3540)	WB, IP	Human, Rat

Related Diseases

Diseases	Alias
Pseudovaginal Perineoscrotal Hypospadias	PPSH Male Pseudohermaphroditism Due To 5-Alpha-Reductase Deficiency Familial Incomplete Male Pseudohermaphroditism, Type 2 5-Alpha Reductase Deficiency Microphallus Steroid 5-Alpha-Reductase Deficiency 46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency 46,Xy Dsd Due To 5-Alpha-Reductase 2 Deficiency Steroid 5-Alpha-Reductase 2 Deficiency Micropenis MCRPENS 5-Ard Deficiency Familial Incomplete Male Pseudohermaphroditism Type 2 Hypospadias, Perineoscrotal, Pseudovaginal
Penis Agenesis	Micropenis Agenesis Of The Penis Penis Agenesia
Hypospadias	Hypospadias Familial Familial Hypospadias
Pseudohermaphroditism	Indeterminate Sex And Pseudohermaphroditism
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
Phimosis	Tight Foreskin Tight Frenulum Congenital Phimosis
Androgenic Alopecia	Androgenetic Alopecia Alopecia Androgenetica, Male Pattern Baldness
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
Telogen Effluvium
Gender Incongruence	Gender Dysphoria Transsexualism Gender Identify Disorder
Prostatic Hyperplasia, Benign	Benign Prostatic Hyperplasia BPH Prostatic Hyperplasia
Oligospermia
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
Alopecia
Microphthalmia, Syndromic 6	MCOPS6 Microphthalmia And Pituitary Anomalies Microphthalmia With Brain And Digit Anomalies Microphthalmia With Brain And Digit Developmental Anomalies Syndromic Microphthalmia Type 6 Syndromic Microphthalmia 6 Anophthalmia Clinical With Micrognathia Malformed Ears Digital Anomalies And Abnormal External Genitalia Bakrania-Ragge Syndrome Orofacial Cleft 11 Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia Microphthalmia Syndromic 6 Microphthalmia, Syndromic, 6 Clinical Anophthalmia With Micrognathia, Malformed Ears, Digital Anomalies And Abnormal External Genitalia Microphthalmia Syndromic, Type 6
Prostatic Hypertrophy	Benign Prostatic Hypertrophy Prostatic Hyperplasia
Gynecomastia
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
Cloacal Exstrophy	Oeis Complex Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex Cloacal Exstrophy Sequence Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Omphalocele Exstrophy Imperforate Anus
Alopecia, Androgenetic, 1	Androgenetic Alopecia Androgenic Alopecia AGA1 Aga Female Pattern Baldness Male Pattern Alopecia Male Pattern Baldness Pattern Baldness Alopecia, Androgenetic Alopecia Androgenetic Female Pattern Alopecia
Complete Androgen Insensitivity Syndrome	Cais Complete Androgen Resistance Syndrome Androgen Insensitivity Syndrome Complete Androgen Insensitivity, Complete Androgen-Insensitivity Syndrome Testicular Feminization
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
Sexual Health Disorder	Sexual Health
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
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
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
Disorder Of Sexual Development	Disorder Of Sex Development Disorders Of Sex Development Sex Development Disorder Sex Differentiation Disease Dsd Sex Differentiation Disorders
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
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
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
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13755	SRD5A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21944	Srd5a2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28461	Srd5a2 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SRD5A2	VGNC	VGNC:46794
Rattus norvegicus	SRD5A2	RGD	RGD:621480
Bos taurus	SRD5A2	VGNC	VGNC:35272
Mus musculus	SRD5A2	MGD	MGI:2150380
Macaca mulatta	SRD5A2	VGNC	VGNC:106227
Others	SRD5A2	NCBI