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SRD5A2 Gene

protein-coding   GIFtS: 61
GCID: GC02M031661

Steroid-5-Alpha-Reductase, Alpha Polypeptide 2 (3-Oxo-5...

  See SRD5A2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Steroid-5-Alpha-Reductase, Alpha Polypeptide 2 (3-Oxo-5 Alpha-Steroid
Delta 4-Dehydrogenase Alpha 2)1 2
     S5AR 22 3
Steroid 5-Alpha-Reductase 22 3     SR Type 22 3
Type II 5-Alpha Reductase2 3     3-Oxo-5-Alpha-Steroid 4-Dehydrogenase 22
5 Alpha-SR22 3     EC 1.3.1.223

External Ids:    HGNC: 112851   Entrez Gene: 67162   Ensembl: ENSG000000493197   OMIM: 6073065   UniProtKB: P312133   

Export aliases for SRD5A2 gene to outside databases

Previous GC identifers: GC02M031693 GC02M031876 GC02M031724 GC02M031485


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SRD5A2 Gene:
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)

GeneCards Summary for SRD5A2 Gene:
SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)) is a protein-coding gene. Diseases associated with SRD5A2 include hypospadias, and 5-alpha reductase deficiency. GO annotations related to this gene include sterol 5-alpha reductase activity and 3-oxo-5-alpha-steroid 4-dehydrogenase activity.

UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
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

Gene Wiki entry for SRD5A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the SRD5A2 gene promoter:
         SRF   Pax-5   Pax-6   SRF (504 AA)   CUTL1   STAT5A   YY1   FOXO1a   ARP-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRD5A2 promoter sequence
   Search Chromatin IP Primers for SRD5A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SRD5A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23   Ensembl cytogenetic band:  2p23.1   HGNC cytogenetic band: 2p23.1

SRD5A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRD5A2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M031661:  view genomic region     (about GC identifiers)

Start:
31,747,550 bp from pter      End:
31,806,136 bp from pter
Size:
58,587 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: B2RE87 Q2M1R4 Q9BYE6

Explore the universe of human proteins at neXtProt for SRD5A2: NX_P31213

Explore proteomics data for SRD5A2 at MOPED


See SRD5A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000339.2  Reactome Protein details: P31213

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR001104 3-oxo-5_a-steroid_4-DH_C
 IPR016636 3-oxo-5-alpha-steroid_4-DH

Graphical View of Domain Structure for InterPro Entry P31213

ProtoNet protein and cluster: P31213

2 Blocks protein domains:
IPB001104 3-oxo-5-alpha-steroid 4-dehydrogenase
IPB001497 Methylated-DNA-[protein]-cysteine S-methyltransferase


UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
Similarity: Belongs to the steroid 5-alpha reductase family


Find genes that share domains with SRD5A2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: S5A2_HUMAN, P31213
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
Catalytic activity: A 3-oxo-5-alpha-steroid + NADP(+) = a 3-oxo-Delta(4)-steroid + NADPH
Biophysicochemical properties: pH dependence: Optimally active at acidic pHs;

     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 progression

     Enzyme Number (IUBMB): EC 1.3.1.221

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:00038653-oxo-5-alpha-steroid 4-dehydrogenase activity IEA--
GO:0009917sterol 5-alpha reductase activity IDA1944596
GO:0047751cholestenone 5-alpha-reductase activity IEA--
     
Find genes that share ontologies with SRD5A2           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for SRD5A2:
 Decreased Wnt reporter activit 

     2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Srd5a2):
 endocrine/exocrine gland  reproductive system 

Find genes that share phenotypes with SRD5A2           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Srd5a2tm1Mahe for SRD5A2

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SRD5A2
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hsa-miR-203 hsa-miR-4291 hsa-miR-875-3p hsa-miR-922 hsa-miR-548aa hsa-miR-3667-3p hsa-miR-646 hsa-miR-214
SwitchGear 3'UTR luciferase reporter plasmidSRD5A2 3' UTR sequence
Inhib. RNA
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
S5A2_HUMAN, P31213: Microsome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3
nucleus1

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane TAS--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with SRD5A2           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for SRD5A2 About   (see all 7)  
See pathways by source

SuperPathContained pathways About
1Transcription Androgen Receptor nuclear signaling
Transcription Androgen Receptor nuclear signaling0.49
Translation Non genomic rapid action of Androgen Receptor0.49
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
3superpathway of steroid hormone biosynthesis
superpathway of steroid hormone biosynthesis
androgen biosynthesis0.00
4Metabolism of steroid hormones and vitamin D
Metabolism of steroid hormones and vitamin D
Androgen biosynthesis0.00
5Glioma
Prostate cancer0.39


Find genes that share SuperPaths with SRD5A2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


2 GeneGo (Thomson Reuters) Pathways for SRD5A2
    Transcription Androgen Receptor nuclear signaling
Translation Non-genomic (rapid) action of Androgen Receptor

3 BioSystems Pathways for SRD5A2
    cardenolide biosynthesis
superpathway of steroid hormone biosynthesis
androgen biosynthesis

1 Reactome Pathway for SRD5A2
    Androgen biosynthesis


2 Kegg Pathways  (Kegg details for SRD5A2):
    Steroid hormone biosynthesis
Prostate cancer

    Pathway & Disease-focused RT2 Profiler PCR Array including SRD5A2: 
          Drug Metabolism in human mouse rat

Interactions:

    GeneGlobe Interaction Network for SRD5A2

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006702androgen biosynthetic process TAS--
GO:0007267cell-cell signaling TAS1944596
GO:0008202steroid metabolic process TAS--
GO:0008209androgen metabolic process IDA1944596
GO:0008584male gonad development IMP1944596

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for SRD5A2 available from Tocris Bioscience    About this table
CompoundAction CAS #
AuranofinThioredoxin reductase inhibitor; induces MPT[34031-32-8]
ES 936Mechanism-based inhibitor of NAD(P)H:quinone oxidoreductase (NQO1)[192820-78-3]
FinasterideType II 5alpha-reductase inhibitor[98319-26-7]

7 HMDB Compounds for SRD5A2    About this table
CompoundSynonyms CAS #PubMed Ids
7a,12a-Dihydroxy-5a-cholestan-3-one7a,12a-Dihydroxy-5a-cholestan-3-one ----
7a,12a-Dihydroxy-cholestene-3-one7-alpha,12-alpha-dihydroxy-4-cholesten-3-one (see all 7)----
Androstanedione5a-Androsta-3,17-dione (see all 11)846-46-8--
Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-8--
Dihydrotestosterone17-Hydroxy-androstan-3-one (see all 31)521-18-6--
Testosterone(+)-testosterone (see all 86)58-22-0--
Testosterone sulfate17-O-Sulfotestosterone (see all 10)651-45-6--

3 DrugBank Compounds for SRD5A2    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Dutasteride-- 164656-23-9targetinhibitor19879888 20426708 16818707 19707263 18318566 11752352 19091347 19200641 19543428
FinasterideFinasterida [INN-Spanish] (see all 2)98319-26-7targetinhibitor20460827 12773767 16818707 19707263 12670724 16019620 19543428
Azelaic AcidAnchoic acid (see all 7)123-99-9targetinhibitor17139284 17016423 3207614

Selected Novoseek inferred chemical compound relationships for SRD5A2 gene (see all 24)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
dihydrotestosterone 88.6 49 10417059 (2), 14739525 (2), 8723114 (2), 17283174 (1) (see all 34)
testosterone 81.5 93 15201804 (3), 16039774 (2), 14739525 (2), 10905384 (2) (see all 64)
steroid 66.8 45 10469617 (2), 10718838 (2), 15477877 (2), 11340572 (2) (see all 31)
finasteride 63.5 9 12949937 (2), 16818707 (2), 15326487 (1)
valine 59.7 15 11164181 (2), 11259089 (1), 17823934 (1), 11698569 (1) (see all 9)
5alpha-dihydroprogesterone 56.6 1 7593415 (1)
17beta-hydroxysteroid 56.3 4 11534997 (1), 16174723 (1), 18410552 (1)
leucine 54.1 17 11164181 (2), 11259089 (1), 17823934 (1), 16018939 (1) (see all 11)
3beta-hydroxysteroid 52.6 5 17823934 (1), 8737913 (1), 10688862 (1), 10905384 (1) (see all 5)
dutasteride 52.6 6 16818707 (2)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for SRD5A2 gene: 
NM_000348.3  

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
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000405650(processed_transcript) ENST00000233139(processed_transcript)
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Additional mRNA sequence: 

AK307235.1 AK316597.1 BC112252.1 BC113641.1 EF560740.1 M74047.1 

3 DOTS entries:

DT.306183  DT.120992969  DT.120992970 

Selected AceView cDNA sequences (see all 43):

NM_000348 BM699748 AL565638 AI791965 BX104882 BF726287 AL043257 BM727083 
CB163994 AA688297 BE646207 BM693728 BM681045 AA588861 BG287020 BM670868 
AI924631 CB144745 BX411244 AI684088 BF437415 AI732668 BU737568 M74047 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for SRD5A2    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1:        -                                 
SP2:                    -     -               


ECgene alternative splicing isoforms for SRD5A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SRD5A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
SRD5A2 Expression
About this image

SRD5A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SRD5A2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.458345

UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
Tissue specificity: Expressed in high levels in the prostate and many other androgen-sensitive tissues

    Pathway & Disease-focused RT2 Profiler PCR Array including SRD5A2: 
          Drug Metabolism in human mouse rat

Primer
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QuantiFast Probe-based Assays in human, mouse, rat SRD5A2
In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for SRD5A2 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Srd5a21 , 5 steroid 5 alpha-reductase 21, 5 81.1(n)1
75.2(a)1
  17 (45.39 cM)5
942241  NM_053188.21  NP_444418.11 
 740177065 
chicken
(Gallus gallus)
Aves SRD5A21 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 more 68.25(n)
65.87(a)
  772291  XM_001235446.2  XP_001235447.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia srd5a21 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 more 58.91(n)
55.81(a)
  549867  NM_001017113.2  NP_001017113.1 
zebrafish
(Danio rerio)
Actinopterygii wufk70d022 Transcribed sequence with weak similarity to protein more 69.36(n)    BI876786.1 
worm
(Caenorhabditis elegans)
Secernentea F19H6.41 , 3 3-oxo-5-alpha-steroid 4-dehydrogenase3
F19H6.41
41(a)
(best of 3)3
51.28(n)1
43.44(a)1
  X(12400751-12402355)3
1846991  NM_077676.11  NP_510077.11 


ENSEMBL Gene Tree for SRD5A2 (if available)
TreeFam Gene Tree for SRD5A2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SRD5A2 gene
1 SIMAP similar gene for SRD5A2 using alignment to 1 protein entry:     S5A2_HUMAN:
SRD5A1

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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
S5A2_HUMAN, P31213: 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


Selected SNPs for SRD5A2 (see all 1282)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs93329671,2,,4
C,FPseudovaginal perineoscrotal hypospadias (PPSH)4 --31671387(-) ATCTCG/AGAAAG 2 /Q /R mis13Minor allele frequency- A:0.00EA NA EU 591
VAR_0258554
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0258552 Q R mis40--------
VAR_0131134
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131132 H R mis40--------
VAR_0131064
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131062 G D mis40--------
VAR_0258564
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0258562 G R mis40--------
VAR_0131304
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131302 G D mis40--------
VAR_0131094
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131092 G S mis40--------
VAR_0131104
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131102 E D mis40--------
VAR_0131124
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131122 A T mis40--------
VAR_0056094
Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0056092 R W mis40--------

HapMap Linkage Disequilibrium report for SRD5A2 (31747550 - 31806136 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for SRD5A2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv2665CNV Insertion18451855
nsv456030CNV Gain19166990

Human Gene Mutation Database (HGMD): SRD5A2
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing SRD5A2
DNA2.0 Custom Variant and Variant Library Synthesis for SRD5A2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607306   
OMIM disorders: 264600  
UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
  • Pseudovaginal perineoscrotal hypospadias (PPSH) [MIM:264600]: A form of male pseudohermaphroditism in
    which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch,
    and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending
    perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for SRD5A2:    
    About MalaCards
    hypospadias    5-alpha reductase deficiency    pseudohermaphroditism    steroid 5-alpha-reductase deficiency
    prostate cancer, progression and metastasis of    partial androgen insensitivity syndrome    androgen insensitivity syndrome    transsexualism
    hermaphroditism    oligospermia    prostate cancer    familial prostate cancer

    4 diseases from the University of Copenhagen DISEASES database for SRD5A2:
    Pseudohermaphroditism     Hypospadias     Prostate cancer     Androgen insensitivity syndrome

    Find genes that share disorders with SRD5A2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SRD5A2 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudohermaphroditism male 90.7 15 16098368 (2), 17551467 (2), 1944596 (1), 8751382 (1) (see all 10)
    prostate cancer 76.8 105 11588134 (5), 12949937 (5), 12746845 (5), 16018939 (4) (see all 56)
    micropenis 75.1 11 15201804 (4), 12843198 (4), 15266301 (1)
    virilization 74.1 7 8723114 (2), 14739525 (1), 15813602 (1), 16181229 (1) (see all 6)
    pseudohermaphroditism 72.9 2 18097518 (1), 8723114 (1)
    hypospadias 67.3 15 10514539 (3), 20215396 (2), 15266301 (2), 16736621 (2) (see all 6)
    benign prostatic hyperplasia 64.3 10 16018939 (2), 16039774 (1), 16029630 (1), 18495332 (1) (see all 9)
    androgen insensitivity syndrome 57.1 1 10905384 (1)
    somatic mutations 40.8 2 10081907 (2)
    alopecia androgenetic 39.1 1 12670724 (1)

    Genatlas disease: SRD5A2
    hypospadias,pseudovaginal,perineoscrotal;male pseudohermaphroditism

    Genetic Association Database (GAD): SRD5A2
    Human Genome Epidemiology (HuGE) Navigator: SRD5A2 (110 documents)

    Export disorders for SRD5A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SRD5A2 gene, integrated from 10 sources (see all 274):
    (articles sorted by number of sources associating them with SRD5A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients. (PubMed id 12843198)1, 2, 4, 9 Sasaki G.... Matsuo N. (J. Clin. Endocrinol. Metab. 2003)
    2. 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, 2, 4, 9 Makridakis N.M.... Reichardt J.K.V. (Lancet 1999)
    3. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PubMed id 1522235)1, 2, 3, 9 Thigpen A.E....Russell D.W. (J. Clin. Invest. 1992)
    4. Analysis of genetic polymorphisms of steroid 5alpha-reductase type 1 and 2 genes in Korean men with androgenetic alopecia. (PubMed id 12670724)1, 4, 7, 9 Ha S.J....Kim J.W. (J. Dermatol. Sci. 2003)
    5. Evaluation of SRD5A2 sequence variants in susceptibility to hereditary and sporadic prostate cancer. (PubMed id 12746845)1, 4, 9 Chang B.L....Xu J. (Prostate 2003)
    6. The association of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) gene polymorphisms with prostate cancer patients in the Turkish population. (PubMed id 17328668)1, 4, 9 Onen I.H....Biri H. (DNA Cell Biol. 2007)
    7. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PubMed id 16818707)1, 7, 9 Xu Y....Isaacs J.T. (Clin. Cancer Res. 2006)
    8. Germ-line genetic variation in the key androgen-regulating genes androgen receptor, cytochrome P450, and steroid-5-alpha-reductase type 2 is important for prostate cancer development. (PubMed id 17108148)1, 4, 9 LindstrAPm S....GrAPnberg H. (Cancer Res. 2006)
    9. 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, 2, 9 Fernandez-Cancio M.... Audi L. (Horm. Res. 2004)
    10. The SRD5A2 V89L polymorphism is associated with severity of disease in men with early onset prostate cancer. (PubMed id 18780294)1, 4, 9 Scariano J.K....Smith A.Y. (Prostate 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6716 HGNC: 11285 AceView: SRD5A2 Ensembl:ENSG00000049319 euGenes: HUgn6716
    ECgene: SRD5A2 Kegg: 6716 H-InvDB: SRD5A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SRD5A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SRD5A2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SRD5A2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/srd5a2/
    Wikipedia http://en.wikipedia.org/wiki/5_alpha_reductase

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    Patent Information for SRD5A2 gene:
    Search GeneIP for patents involving SRD5A2

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