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Aliases & Descriptions for SRD5A2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 1.3.99.5 3 | | MGC138457 2 |
| | | Descriptions |
|---|
| 3-oxo-5 alpha-steroid 4-dehydrogenase 2 2 | | 5 alpha-SR2 3 | | SR type 2 3 | | Steroid 5-alpha-reductase 2 2, 3 | | Type II 5-alpha reductase 3 | steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) 2 |
|
| | Search outside databases for aliases for SRD5A2 genePrevious GC identifers: GC02M031693 GC02M031876 GC02M031724 |
Summaries for SRD5A2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SRD5A2: 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] UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213Function: 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 physiologyGene Wiki entry for SRD5A2 |
Genomic Location for SRD5A2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SRD5A2 gene 
Entrez Gene cytogenetic band: 2p23 Ensembl cytogenetic band: 2p23.1 HGNC cytogenetic band: 2p23.1SRD5A2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M031661:
(about GC identifiers)
Start:
|
31,601,054 bp from pter |
End:
|
31,659,640 bp from pter |
Size:
|
58,587 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000002.10 NT_022184.14
| Proteins for SRD5A2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213 (See
protein sequence)Recommended Name: 3-oxo-5-alpha-steroid 4-dehydrogenase 2 Size: 254 amino acids; 28393 Da
Subcellular location: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q2M1R4 Q9BYE6REFSEQ proteins: NP_000339.2
ENSEMBL proteins: ENSP00000233139 ENSP00000384846
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
): About this table
Antibodies for SRD5A2: Assays for SRD5A2: | Protein
Domains/ Families for SRD5A2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P31213
ProtoNet protein and cluster: P31213 2 Blocks protein families: IPB001104 3-oxo-5-alpha-steroid 4-dehydrogenase IPB001497 Methylated-DNA-[protein]-cysteine S-methyltransferase
UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213Similarity: Belongs to the steroid 5-alpha reductase family | Gene Function for SRD5A2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000348
Applied Biosystems Silencer® siRNAs for SRD5A2
Sigma-Aldrich siRNA and siRNA Panels for SRD5A2  Sigma-Aldrich shRNA for SRD5A2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000348                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000348                                  untagged cDNA clone in CMV expression vector: NM_000348 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000348
UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213Function: 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 physiologyCatalytic activity: A 3-oxo-5-alpha-steroid + acceptor = a 3-oxo-Delta(4)-steroid + reduced acceptorBiophysicochemical properties: pH dependence: Optimally active at acidic pHs;Enzyme Number (IUBMB): EC 1.3.99.5 Genatlas biochemistry entry for SRD5A2:steroid 5 alpha-reductase (3-oxo-5 alpha-steroid delta 4-dehydrogenase) alpha polypeptide 2,genital tissue,mutated in the prostate cancer in progression2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Srd5a2):
2 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003865 | 3-oxo-5-alpha-steroid 4-dehydrogenase activity |
IEA | -- | | GO:0009917 | sterol 5-alpha reductase activity |
IDA | 1944596 | About this table | Pathways & Interactions for SRD5A2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
2 Sigma-Aldrich "Your Favorite Gene" Pathways for SRD5A2 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for SRD5A2 
5/29 Interacting proteins for SRD5A2 (ENSP000002331393) via UniProtKB, MINT, and/or STRING (see all 29
)About this table
5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
): About this table
|
Drugs & Compounds for SRD5A2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  | Sigma-Aldrich Small Molecules for SRD5A2: Inhibitor |
Compounds for SRD5A2 available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Finasteride | Type II 5alpha-reductase inhibitor | [98319-26-7] | About this table
10/13 Novoseek chemical compound relationships for SRD5A2 gene (see all 13
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| steroid |
65.65 |
38 |
10469617 (2), 10718838 (2), 15477877 (2), 11340572 (2) (see all 27) |
| 5alpha-dihydroprogesterone |
57.96 |
1 |
7593415 (1) |
| 17beta-hydroxysteroid |
57.63 |
4 |
11534997 (1), 16174723 (1), 18410552 (1) |
| leucine |
54.18 |
16 |
11164181 (2), 11259089 (1), 10469617 (1), 10606227 (1) (see all 10) |
| 3beta-hydroxysteroid |
53.93 |
5 |
17823934 (1), 8737913 (1), 10688862 (1), 10905384 (1) (see all 5) |
| rsai |
42.05 |
1 |
8751382 (1) |
| threonine |
34.38 |
5 |
12815006 (1), 16018939 (1), 11588134 (1), 12712437 (1) (see all 5) |
| deoxyribonucleic acid |
29.21 |
2 |
16500352 (1), 10368476 (1) |
| nadph |
25.73 |
1 |
10898110 (1) |
| p005 |
15.96 |
1 |
16039774 (1) |
About this table
|
Transcripts for SRD5A2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000348
Sigma-Aldrich siRNA and siRNA Panels for SRD5A2  Sigma-Aldrich shRNA for SRD5A2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000348 REFSEQ mRNAs for SRD5A2 gene: NM_000348.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000348               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000348                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000348                                  untagged cDNA clone in CMV expression vector: NM_000348  Additional cDNA sequence: AK307235.1 AK316597.1 BC112252.1 BC113641.1 EF560740.1 M74047.1 3 DOTS entries: DT.306183 DT.120992969 DT.120992970 24/43 AceView cDNA sequences (see all 43
):BM699748 AL043257 BM681045 AL565638 BF726287 BM727083 AI791965 BM670868 AA688297 CB163994 BG287020 BE646207 NM_000348 BM693728 BX104882 AA588861 BF437415 AI684088 BX411244 AI924631 BM727607 BU689755 BU736986 M74047
highest scoring ESTs for SRD5A2:M74047 AA905010 AA912115 AI420552 AI432604 AI476589 AI620211 AI924631 AI969930 AL534740 Unigene Cluster for SRD5A2: Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) Hs.458345 [show with all ESTs]Unigene Representative Sequence: NM_000348
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A2
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | |
| SP1: | |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | - |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for SRD5A2
2 Ensembl transcripts including schematic representations: ENST00000233139
ENST00000405650
|
Expression for SRD5A2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SRD5A2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SRD5A2
1 / 2 / 3 6 probe-sets matching SRD5A2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.458345
Expression variation in blood from EXPOLDB for SRD5A2 UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213Tissue specificity: Expressed in high levels in the prostate and many other androgen-sensitive tissues |
Orthologs for SRD5A2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SRD5A2 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for SRD5A2
ENSEMBL Gene Tree for SRD5A2 | Paralogs for SRD5A2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SRD5A2 gene
- SRD5A12
|
SNPs/Variants for SRD5A2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213Polymorphism: Individuals with Thr-49 have an increased risk of prostate cancer. The enzyme with Thr-49 has a higher in vitro V(max) than the Ala-49 enzyme
HapMap Linkage Disequilibrium images for SRD5A2 (up to first 250kb)
|
Disorders & Mutations for SRD5A2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 607306 disorders: 264600 UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
Defects in SRD5A2 are the cause of pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]; also known as male pseudohermaphroditism due to 5-alpha-reductase deficiency or 5-ARD deficiency. PPSH is a rare form of male pseudohermaphroditism in which affected males develop normal internal urogenital tracts but fail to develop external male structures. Individuals with PPSH have testicles and tend to have a vagina and labia, but with a small penis capable of ejaculation instead of a clitoris (this penis, however, appears to be a clitoris at birth). These individuals are normally raised as girls. However at puberty their testes will descend, their voice will deepen and they often will develop a male sexual identity. They develop only limited facial hair and will not experience male-pattern baldness. Jeffrey Eugenides won a Pulitzer prize for his 2003 novel 'Middlesex' which describes the life an individual with such a deficiency10/19 Novoseek disease relationships for SRD5A2 gene (see all 19
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pseudohermaphroditism male |
91.22 |
15 |
16098368 (2), 17551467 (2), 1944596 (1), 8751382 (1) (see all 10) |
| prostate cancer |
77.55 |
98 |
11588134 (5), 12949937 (5), 12746845 (5), 16018939 (4) (see all 53) |
| pseudohermaphroditism |
73.88 |
2 |
18097518 (1), 8723114 (1) |
| virilization |
73.82 |
7 |
8723114 (2), 14739525 (1), 15813602 (1), 16181229 (1) (see all 6) |
| micropenis |
73.16 |
11 |
15201804 (4), 12843198 (4), 15266301 (1) |
| benign prostatic hyperplasia |
64.74 |
9 |
16018939 (2), 16039774 (1), 16029630 (1), 15136785 (1) (see all 8) |
| hypospadias |
62.76 |
12 |
10514539 (3), 15266301 (2), 16736621 (2), 16174723 (1) (see all 5) |
| androgen insensitivity syndrome |
58.70 |
1 |
10905384 (1) |
| somatic mutations |
42.84 |
2 |
10081907 (2) |
| aggressiveness |
41.34 |
3 |
14991867 (2), 17823934 (1) |
About this table
Genatlas disease: SRD5A2 hypospadias,pseudovaginal,perineoscrotal;male pseudohermaphroditism Human Gene Mutation Database: SRD5A2 Genetic Association Database: SRD5A2 Human Genome Epidemiology Navigator: SRD5A2 (83 documents)
|
Medical News for SRD5A2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SRD5A2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/191 PubMed articles for SRD5A2 gene (see all 191
):- Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. (PubMed id 12843198)1, 3, 4, 6 Sasaki G.... Matsuo N. (2003)
- Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. (PubMed id 10501358)1, 3, 4, 6 Makridakis N.M.... Reichardt J.K.V. (1999)
- Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PubMed id 1522235)1, 2, 3, 4 Thigpen A.E....Russell D.W. (1992)
- Evaluation of SRD5A2 sequence variants in susceptibility to hereditary and sporadic prostate cancer. (PubMed id 12746845)1, 3, 6 Chang B.L....Xu J. (2003)
- Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. (PubMed id 15528927)1, 3, 4 Fernandez-Cancio M.... Audi L. (2004)
- A common polymorphism within the steroid 5-alpha-reductase type 2 gene and timing of menopause in Caucasian women. (PubMed id 16325991)1, 3, 6 Huber A....Hefler L.A. (2006)
- Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. (PubMed id 15201804)1, 3, 6 Ishii T....Ogata T. (2004)
- Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4. (PubMed id 12446983)1, 3, 6 Zeigler-Johnson C.M....Rebbeck T.R. (2002)
- Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study. (PubMed id 11588134)1, 3, 6 Hsing A.W....Reichardt J.K. (2001)
- Associations between polymorphisms in the steroid 5-alpha reductase type II (SRD5A2) gene and benign prostatic hyperplasia and prostate cancer. (PubMed id 16018939)1, 3, 6 Salam M.T....Reichardt J.K. (2005)
|
Search for SRD5A2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SRD5A2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SRD5A2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SRD5A2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for SRD5A2 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.genetests.org/query?gene=SRD5A2 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/srd5a2/ | | Wikipedia | http://en.wikipedia.org/wiki/5_alpha_reductase |
|
| | | About This Section
| --
| Services for SRD5A2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SRD5A2:

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Incremental update: 13 Oct 2009
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