• Gene id: 6716

Gene Summary

• Gene Symbol: SRD5A2   Gene   UCSC   Ensembl
• Gene name: steroid 5 alpha-reductase 2
• Alternate names: 3-oxo-5-alpha-steroid 4-dehydrogenase 2, 5 alpha-SR2, S5AR 2, SR type 2, steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), type II 5-alpha reductase,
• Gene location: 2p23.1 (31665650: 31522485)     Exons: 10     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 607306

SNPs

rs7562326

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31573695T>A
NC_000002.12   g.31573695T>C
NC_000002.11   g.31798765T>A
NC_000002.11   g.31798765T>C
NG_008365.1   g.12277A>T
NG_008365.1   g.12277A>G|SEQ=[T/A/C]|GENE=SRD5A2

rs523349

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580636G>A
NC_000002.12   g.31580636G>C
NC_000002.12   g.31580636G>T
NC_000002.11   g.31805706G>A
NC_000002.11   g.31805706G>C
NC_000002.11   g.31805706G>T
NG_008365.1   g.5336C>T
NG_008365.1   g.5336C>G
NG_008365.1   g.5336C>A
NM_000348.4   c.265C>T
N  

rs632148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580962C>G
NC_000002.11   g.31806031C>G
NG_008365.1   g.5010G>C
NM_000348.3   c.-62G>C|SEQ=[C/G]|GENE=SRD5A2

rs2300701

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31561938A>G
NC_000002.11   g.31787008A>G
NG_008365.1   g.24034T>C|SEQ=[A/G]|GENE=SRD5A2

rs2268797

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31558682C>T
NC_000002.11   g.31783752C>T
NG_008365.1   g.27290G>A
XM_011533069.2   c.-171G>A|SEQ=[C/T]|GENE=SRD5A2

rs12470143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31538488C>T
NC_000002.11   g.31763558C>T
NG_008365.1   g.47484G>A|SEQ=[C/T]|GENE=SRD5A2

Protein Summary

• Protein general information: P31213  
  • 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)
  • Length: 254  
  • Mass: 28,393
• Sequence:

  MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQPLSL
  FGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGV
  FLFILGMGINIHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLG
  LRAFHHHRFYLKMFEDYPKSRKALIPFIF

• Structural information:
  • Interpro: IPR016636  IPR001104  
  • Prosite: PS50244
• Other Databases: GeneCards:  SRD5A2  Malacards:  SRD5A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006706	steroid catabolic process	IEA	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0009917	sterol 5-alpha reductase activity	IDA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0018879	biphenyl metabolic process	IEA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0018963	phthalate metabolic process	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0030540	female genitalia development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032354	response to follicle-stimulating hormone	IEA	biological process
GO:0033218	amide binding	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0047751	cholestenone 5-alpha-reductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0070852	cell body fiber	IEA	cellular component
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA	molecular function
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006702	androgen biosynthetic process	IEA	biological process
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0006706	steroid catabolic process	IEA	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0007548	sex differentiation	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008209	androgen metabolic process	IEA	biological process
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0009917	sterol 5-alpha reductase activity	IDA	molecular function
GO:0010033	response to organic substance	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IEA	molecular function
GO:0018879	biphenyl metabolic process	IEA	biological process
GO:0018894	dibenzo-p-dioxin metabolic process	IEA	biological process
GO:0018963	phthalate metabolic process	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0021854	hypothalamus development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030539	male genitalia development	IEA	biological process
GO:0030540	female genitalia development	IEA	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032354	response to follicle-stimulating hormone	IEA	biological process
GO:0033218	amide binding	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0047751	cholestenone 5-alpha-reductase activity	IEA	molecular function
GO:0048545	response to steroid hormone	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0070852	cell body fiber	IEA	cellular component
GO:0003865	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006702	androgen biosynthetic process	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0008209	androgen metabolic process	IDA	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0009917	sterol 5-alpha reductase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05215	Prostate cancer

Diseases

Associated diseases	References
Cancer	GAD: 18306354
Cancer (breast)	GAD: 15241822
Cancer (endometrial)	GAD: 20381444
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (ovarian)	GAD: 18086758
Cancer (prostate)	GAD: 14693733
Peripheral vascular disease	GAD: 19246976
Androgenetic alopecia	GAD: 12670724
Diabetes	GAD: 16155734
Obesity	GAD: 20734064
Autism	GAD: 19598235
Chronic renal failure	GAD: 21085059
Sperm concentration	GAD: 16487406
Sperm motility	GAD: 16487406
Micropenis	GAD: 15201804
5alpha-reductase deficiency	INFBASE: 16500352
Polycystic ovary syndrome (PCOS)	INFBASE: 21530059
Ovarian endometriosis	INFBASE: 21232532
46,XY disorders of sex development	MIK: 26492835
Ambiguous genitalia	MIK: 9745434
Hypospadias	MIK: 9745434
Male factor infertility	MIK: 20215396
Male pseudohermaphroditism	MIK: 9208814
Oligozoospermia	MIK: 10368476
Pseudovaginal perineoscrotal hypospadias	OMIM: 607306
Azoospermia	MIK: 19926884
Bilateral cryptorchidism	MIK: f
Cryptorchidism	GAD: 12137870
Hirsutism	INFBASE: 16849416
46,XY Disorders of Sex Development	MIK: 20583543
5alpha reductase 2 deficiency	MIK: 24012728
Ambiguous external genitalia	MIK: 9745434
Azoospermia	MIK: 19926884
Oligozoospermia	MIK: 19926884
Bilateral cryptorchidism	MIK: 19926884
Hypospadias	MIK: 20215396
Male pseudohermaphroditism	MIK: 10564874
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20215396	Hypospadias	SRD5A2 (rs523349), ESR1 (rs6932902), ESR2 (rs2987983), ATF3 (rs11119982)	Caucasi an	1216 (620 Caucasian hypospadias cases and 596 controls)	Male infertility	SRD5A2  ESR1 ESR2 ATF3
9208814	Male pseudohermaphroditism	GAA to AAA, at codon 200		1 Male with confirmed biochemical 5 alpha-reductase deficiency	Male infertility
23729601	Hypospadias		Chinese	52 boys with hypospadias	Male infertility	SRD5A2 SF-1 AR
15528927	Male pseudohermaphrodite	G115D/R246W		1 pseudohermaphroditism	Male infertiltiy
18097518	Male pseudohermaphroditism	R246Q	Indian	2 Indian families with male pseudohermaphroditism	Male infertility
19926884	Azoospermia, Oligozoospermia	SRD5A2 (rs632148, rs523349, rs2300701, rs2268797, and rs12470143)	Estonia n	343 (132 azoospermic or oligozoospermic, 211 normozoospermic men)	Male infertility	SRD5A2
12009375	Idiopathic azoospermia		Japanes e		Male infertility	5alpha-reductase type 2
10368476	Oligozoospermia, azoopsermia			18 (12 subjects with oligospermia, 6 subjects with azoospermia)	Male infertility	SRD5A2
9745434	Hypospadias, ambiguous external genitalia		Swedish	3 siblings born with ambiguous external genitalia	Male infertility	5 alpha-reductase type 2
	Bilateral cryptorchidism				Male infertility	5alpha-reductase 2
31219235	Hypospadias	c.G680A(p.R227Q), c.C16T(p.Q6X), c.G680A(p.R227Q), c.C16T(p.Q6X), c.G607A(p.G203S), c.C16T(p.Q6X), c.G680A(p.R227Q), c.T59C(p.L20P), c.G680A(p.R227Q),c.G607A(p.G203S),c.G680A(p.R227Q), c.G607A(p.G203S), c.G281T(p.R94M), c.G196A(p.G66R), c.C268T(p.H90Y),c.	Chinese	130 cases	Male infertility	NGS
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
27848231	Hypospadias	substitution of the nucleotide T > A in the codon 73 [c.219T > A (p.Leu73_Ser74insHisPro)] and an insertion of an extra A nucleotide in the codon 77 [c.229insA* (p.Gly77*)]	Iranian	109 hypospadias patients	Male infertility
10564874	Male pseudohermaphroditism	A-->G mutation within exon 2,changing codon 126 from Glu to Arg; single base deletion (418delT) causing a frameshift mutation at codon 140 in the same exon		1 male pseudohermaphroditism	Male infertility
20583543	46,XY DSD	g.80_87delT CGCGAAG (p.A27fsX132) and p.R246Q, p.R246Q	India	29 cases	Male infertility
24012728	5? reductase 2 deficiency	insertion of nucleotides TA in exon 1 (c.188_189)			Male infertility