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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6716
Gene name	Steroid 5 alpha-reductase 2
Gene symbol	SRD5A2
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2p23.1
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

Show/Hide all (42)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9332960	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs9332961	C>T	Pathogenic	Coding sequence variant, missense variant
rs9332964	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs9332966	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs9332967	C>T	Pathogenic	Coding sequence variant, missense variant
rs61748127	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750397	T>G	Not-provided, likely-pathogenic	Splice acceptor variant
rs104893667	G>A,C	Pathogenic	Intron variant, synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant
rs121434244	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434245	A>T	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434246	C>T	Pathogenic	Coding sequence variant, missense variant
rs121434247	C>T	Pathogenic	Coding sequence variant, missense variant
rs121434248	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434249	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121434250	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs121434251	T>C	Pathogenic	Coding sequence variant, missense variant
rs121434252	G>C	Pathogenic	Coding sequence variant, missense variant
rs121434253	C>A	Pathogenic	Coding sequence variant, missense variant
rs201175894	A>C,G	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant
rs267599353	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs368386747	T>C	Pathogenic	Coding sequence variant, missense variant
rs587776566	ATT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587776567	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs750444774	C>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs756853742	C>T	Pathogenic	Missense variant, coding sequence variant
rs761824859	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs763296857	T>C	Pathogenic	Coding sequence variant, missense variant
rs767564684	G>T	Pathogenic	Coding sequence variant, missense variant
rs772283403	T>A	Pathogenic	Coding sequence variant, missense variant
rs782032018	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant
rs886039748	A>G	Pathogenic	Intron variant, missense variant, genic upstream transcript variant, initiator codon variant
rs1057517829	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519061	A>C,G	Uncertain-significance, pathogenic	Intron variant
rs1057519091	G>C	Pathogenic	Missense variant, coding sequence variant
rs1060499834	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant
rs1200261940	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1340425455	T>A,C	Pathogenic	Splice acceptor variant
rs1553323033	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553323036	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553323488	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553329427	A>-	Pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553329443	C>A	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant

Show/Hide all (29)

miRTarBase ID	miRNA	Experiments
MIRT1387894	hsa-miR-2355-3p	CLIP-seq
MIRT1387895	hsa-miR-33a	CLIP-seq
MIRT1387896	hsa-miR-33b	CLIP-seq
MIRT1387897	hsa-miR-4797-5p	CLIP-seq
MIRT1387898	hsa-miR-676	CLIP-seq
MIRT2116200	hsa-miR-145	CLIP-seq
MIRT2116201	hsa-miR-3190	CLIP-seq
MIRT2116202	hsa-miR-337-3p	CLIP-seq
MIRT1387895	hsa-miR-33a	CLIP-seq
MIRT1387896	hsa-miR-33b	CLIP-seq
MIRT2116203	hsa-miR-3650	CLIP-seq
MIRT2116204	hsa-miR-3685	CLIP-seq
MIRT2116205	hsa-miR-384	CLIP-seq
MIRT2116206	hsa-miR-3911	CLIP-seq
MIRT2116207	hsa-miR-4277	CLIP-seq
MIRT2116208	hsa-miR-4299	CLIP-seq
MIRT2116209	hsa-miR-4456	CLIP-seq
MIRT2116210	hsa-miR-548q	CLIP-seq
MIRT2338728	hsa-miR-1299	CLIP-seq
MIRT2338729	hsa-miR-3064-3p	CLIP-seq
MIRT2338730	hsa-miR-3148	CLIP-seq
MIRT2338731	hsa-miR-3182	CLIP-seq
MIRT2338732	hsa-miR-4252	CLIP-seq
MIRT2338733	hsa-miR-4528	CLIP-seq
MIRT2338734	hsa-miR-4715-3p	CLIP-seq
MIRT2338735	hsa-miR-4782-5p	CLIP-seq
MIRT2338736	hsa-miR-516b	CLIP-seq
MIRT2338737	hsa-miR-570	CLIP-seq
MIRT2338738	hsa-miR-875-3p	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	IBA
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0006706	Process	Steroid catabolic process	IEA
GO:0007267	Process	Cell-cell signaling	TAS	1944596
GO:0007548	Process	Sex differentiation	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	IDA	1944596
GO:0008209	Process	Androgen metabolic process	IEA
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IMP	1944596
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0018879	Process	Biphenyl metabolic process	IEA
GO:0018894	Process	Dibenzo-p-dioxin metabolic process	IEA
GO:0018963	Process	Phthalate metabolic process	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0030540	Process	Female genitalia development	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032354	Process	Response to follicle-stimulating hormone	IEA
GO:0033218	Function	Amide binding	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0047751	Function	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity	IDA	1944596
GO:0047751	Function	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0060348	Process	Bone development	IEA
GO:0061370	Process	Testosterone biosynthetic process	IDA	10898110
GO:0070852	Component	Cell body fiber	IEA
GO:1904614	Process	Response to biphenyl	IEA

MIM	HGNC	e!Ensembl
607306	11285	ENSG00000277893

P31213

Protein name

3-oxo-5-alpha-steroid 4-dehydrogenase 2 (EC 1.3.1.22) (5 alpha-SR2) (SR type 2) (Steroid 5-alpha-reductase 2) (S5AR 2) (Type II 5-alpha reductase)

Protein function

Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. {ECO:0000269|PubMed:10

PDB

7BW1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02544	Steroid_dh	105 → 254	3-oxo-5-alpha-steroid 4-dehydrogenase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in high levels in the prostate and many other androgen-sensitive tissues.

Sequence

MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPS
FAVPAGILARQPLSLFGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGTAFCT
GNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRI
PQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFE
DYPKSRKALIPFIF

Sequence length

254

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Prostate cancer		Androgen biosynthesis

314

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs61748127, rs61750397, rs750444774, rs534671822, rs2148066893, rs121434244, rs587776566, rs121434245, rs121434246, rs121434247, rs121434248, rs587776567, rs121434249, rs121434250, rs121434251 View all (60 more)	RCV003500502 RCV000686310 RCV001726693 RCV001726695 RCV001940208 RCV000003501 RCV000003502 RCV000003503 RCV000003504 RCV000003505 RCV000003506 RCV000003507 RCV000003508 RCV000003509 RCV000003510 RCV000003513 RCV000288398 RCV002465022 RCV003152662 RCV003317733 RCV003445401 RCV003459917 RCV003459918 RCV003459919 RCV003459920 RCV003459921 RCV003459922 RCV003459924 RCV003459925 RCV003501403 RCV003501684 RCV003501685 RCV003501687 RCV003501702 RCV003500145 RCV003500265 RCV003500323 RCV003607695 RCV003607838 RCV003607921 RCV003608399 RCV003608358 RCV003608409 RCV003608508 RCV003608554 RCV003608522 RCV003607036 RCV002523914 RCV003500527 RCV000545602 RCV000469192 RCV000500379 RCV000508957 RCV000529458 RCV000553178 RCV000548299 RCV000535535 RCV000546486 RCV000540681 RCV000534325 RCV000581936 RCV000583485 RCV000582682 RCV000583779 RCV000582093 RCV000583658 RCV000634581 RCV000660881 RCV000660891 RCV000664298 RCV000706218 RCV001030762 RCV000634579 RCV001175241 RCV001249472 RCV001249654 RCV001268947 RCV003500674 RCV002272440 RCV001726476
Abnormality of the genitourinary system	Likely pathogenic; Pathogenic	rs121434245	RCV001813943
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs9332964	RCV003313913
Differences in sex development	Likely pathogenic; Pathogenic	rs121434249, rs764433016	RCV005865155 RCV005865384
Micropenis	Pathogenic; Likely pathogenic	rs104893667, rs9332964	RCV000003514 RCV000003515
See cases	Pathogenic	rs772283403	RCV004584395
SRD5A2-related disorder	Likely pathogenic; Pathogenic	rs121434247, rs121434250, rs9332964, rs9332960, rs9332967	RCV004755704 RCV004755705 RCV003944795 RCV003403177 RCV004755953

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1241588085, rs1057519091	-
Familial cancer of breast	Likely benign	rs267599353	RCV005931332
Ovarian serous cystadenocarcinoma	Likely benign	rs191186592	RCV005913840
SRD5A2 POLYMORPHISM	Benign	rs9282858	RCV000003511

Show/Hide Text Mining Associations (53)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XY female	Associate	20850730
Abortion Spontaneous	Associate	28410957
Adenocarcinoma	Associate	29949537
Adenomatous Polyposis Coli	Associate	7521342
Amenorrhea	Associate	20850730, 22001134, 36617173
Androgen Insensitivity Syndrome	Associate	24737579, 27849622, 31178538, 33602557
Anemia Hemolytic	Associate	30942098
Anorchia	Associate	35700942
Autism Spectrum Disorder	Associate	38287090
Autistic Disorder	Associate	38287090
Breast Neoplasms	Associate	11259089, 12100746, 15212687, 15241822, 21761341, 24365257
Calcinosis Cutis	Inhibit	22971343
Carcinoma Hepatocellular	Associate	35196258, 35236335
Cortisone reductase deficiency	Associate	18314109, 19342739, 20493473, 22453073, 23112260, 26453174, 29643321, 31031332, 31178538, 32713132, 35700942, 36834714
Cryptorchidism	Associate	35700942
Disorder of Sex Development 46 XY	Associate	15064320, 1522235, 16500352, 18097518, 18314109, 22272144, 24737579, 26492835, 27849622, 32985417, 35331321, 36617173, 36631813, 37147882, 39285472, 40043094, 9208814 View all (2 more)
Disorders of Sex Development	Associate	18097518, 19342739, 22272144, 26980296, 27086719, 29022558, 29176693, 35135181, 35331321, 40043094
Endometrial Neoplasms	Associate	29182028, 39205690
Fibroadenoma	Associate	15241822
Fibrosis	Associate	37784175
Gender Dysphoria	Associate	26453174
Genetic Diseases Inborn	Associate	20019388
Gynecomastia	Associate	20305676
Hepatitis B Chronic	Associate	37784175
Hirsutism	Associate	21676395
Hyperandrogenism	Associate	26848581
Hypospadias	Associate	20059664, 20850730, 23088992, 24281767, 31031332, 31219235, 32713132, 39249922
Inflammation	Associate	37784175
Klinefelter Syndrome	Associate	29022558
Lissencephaly X Linked 2	Associate	29643321
Liver Cirrhosis	Associate	37784175
Metabolic Syndrome	Associate	29084161, 29523664
Metabolism Inborn Errors	Associate	36357675
Neoplasm Metastasis	Inhibit	18519708, 24244276
Neoplasm Metastasis	Associate	26195723
Neoplasms	Associate	11259089, 21761341, 29949537, 30942098
Neoplasms	Stimulate	29182028
Oligospermia	Associate	20493473
Ovarian Neoplasms	Associate	18086758, 32590918
Penis agenesis	Associate	20305676, 31178538, 31219235
Personality Disorders	Associate	17823934
Pre Eclampsia	Associate	23088992
Primary hyperoxaluria type 2	Associate	12110100, 16500352, 20850730, 22001134, 27849622, 32596280, 35135181
Primary hyperoxaluria type 2	Stimulate	27849622
Prostatic Hyperplasia	Associate	21627373, 24606449, 25735326, 25916673, 29084161, 35821619, 36344974, 39492303
Prostatic Neoplasms	Associate	11381197, 11847524, 17823934, 18163429, 19443907, 23258647, 25598933, 25735326, 27164191, 29580149, 35293897
Prostatic Neoplasms Castration Resistant	Inhibit	18519708
Prostatic Neoplasms Castration Resistant	Associate	32134978
Prostatitis	Associate	29580149, 33243958
Pseudovaginal Perineoscrotal Hypospadias	Associate	1522235, 20019388, 20493473, 22001134, 22272144, 22453073, 23112260, 26761946, 29643321, 32713132, 37986304, 40043094, 40447697, 9208814
Pseudovaginal Perineoscrotal Hypospadias	Inhibit	27086719
Puberty Precocious	Associate	20019388
Virilism	Associate	32590918

SRD5A2 (steroid 5 alpha-reductase 2)