Endometriosis Knowledgebase

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Gene id

6716

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

OMIM

607306

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

Tissue specificity: Expressed in high levels in the prostate and many other androgen-sensitive tissues.

Sequence

MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQPLSL
FGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGV
FLFILGMGINIHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLG
LRAFHHHRFYLKMFEDYPKSRKALIPFIF

Structural information

Interpro:	IPR016636 IPR001104
Prosite:	PS50244
Pfam:	PF02544

Other Databases

GeneCards: SRD5A2; Malacards: SRD5A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	TAS	molecular_function
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0006706	steroid catabolic process	IEA	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008209	androgen metabolic proces s	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 mem brane	IEA	cellular_component
GO:0018879	biphenyl metabolic proces s	IEA	biological_process
GO:0018894	dibenzo-p-dioxin metaboli c process	IEA	biological_process
GO:0018963	phthalate metabolic proce ss	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 developmen t	IEA	biological_process
GO:0030540	female genitalia developm ent	IEA	biological_process
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032354	response to follicle-stim ulating 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 hormo ne	IEA	biological_process
GO:0047751	cholestenone 5-alpha-redu ctase activity	IEA	molecular_function
GO:0055114	oxidation-reduction proce ss	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-d ehydrogenase activity	IEA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase activity	IEA	molecular_function
GO:0003865	3-oxo-5-alpha-steroid 4-d ehydrogenase 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 mem brane	IEA	cellular_component
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006629	lipid metabolic process	IEA	biological_process
GO:0006694	steroid biosynthetic proc ess	IEA	biological_process
GO:0006702	androgen biosynthetic pro cess	IEA	biological_process
GO:0006702	androgen biosynthetic pro cess	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 proces s	IEA	biological_process
GO:0008209	androgen metabolic proces s	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 subst ance	IEA	biological_process
GO:0014070	response to organic cycli c compound	IEA	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016021	integral component of mem brane	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 proces s	IEA	biological_process
GO:0018894	dibenzo-p-dioxin metaboli c process	IEA	biological_process
GO:0018963	phthalate metabolic proce ss	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 developmen t	IEA	biological_process
GO:0030540	female genitalia developm ent	IEA	biological_process
GO:0031090	organelle membrane	IEA	cellular_component
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032354	response to follicle-stim ulating 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-bo unded organelle	IEA	cellular_component
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0047751	cholestenone 5-alpha-redu ctase activity	IEA	molecular_function
GO:0048545	response to steroid hormo ne	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	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-d ehydrogenase activity	TAS	molecular_function
GO:0005789	endoplasmic reticulum mem brane	TAS	cellular_component
GO:0006702	androgen biosynthetic pro cess	TAS	biological_process
GO:0007267	cell-cell signaling	TAS	biological_process
GO:0008209	androgen metabolic proces s	IDA	biological_process
GO:0008584	male gonad development	IMP	biological_process
GO:0009917	sterol 5-alpha reductase activity	IDA	molecular_function

KEGG pathways

hsa05215 Prostate cancer
hsa00140 Steroid hormone biosynthesis

Diseases

Associated diseases	References
5alpha-reductase deficiency	PMID: 16500352
Endometriosis (ovarian)	PMID: 21232532
Ambiguous genitalia	PMID: 9745434
Androgenetic alopecia	PMID: 12670724
Azoospermia	PMID: 19926884
Bilateral cryptorchidism	PMID: f
Cancer	PMID: 18306354
Cryptorchidism	PMID: 12137870
Diabetes	PMID: 16155734
Hyperandrogenism	PMID: 23633205
Hypospadias	PMID: 9745434, OMIM: 607306
Idiopathic azoospermia	PMID: 12009375
Male pseudohermaphroditism (MPH)	PMID: 15528927
Micropenis	PMID: 15201804
Ovarian endometriosis	INFBASE21232532
Oligozoospermia	PMID: 10368476
Ovarian endometriosis	PMID: 21232532
Ovarian endometriosis	PMID: 21232532
Polycystic ovary syndrome (PCOS)	PMID: 16849416
Spermatogenetic defects	PMID: 16487406

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21232532	Endometrio sis (ovari an)					PR-AB HSD17B2 SRD5A2 AKR1C1 AKR1C2 AKR1C3 AKR1D1	Show abstract