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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SRD5A2 Gene

protein-coding   GIFtS: 63
GCID: GC02M031661

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

  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 5-alpha reductase deficiency, and hypospadias, and among its related super-pathways are androgen biosynthesis and Steroid hormones. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SRD5A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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: B2RE87 Q2M1R4 Q9BYE6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P31213

  • SRD5A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_000339.2  Reactome Protein details: P31213
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    SRD5A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    SRD5A2 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    SRD5A2 for ontologies           About GeneDecksing


    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 

    SRD5A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Srd5a2tm1Mahe for SRD5A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SRD5A2 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SRD5A2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Androgen biosynthesis
    androgen biosynthesis0.62
    Androgen biosynthesis0.62
    2Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    3Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor0.49
    Transcription Androgen Receptor nuclear signaling0.49
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Glioma
    Prostate cancer0.39

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for SRD5A2
        Transcription Androgen Receptor nuclear signaling
    Translation Non-genomic (rapid) action of Androgen Receptor


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

    1 BioSystems Pathway for SRD5A2
        androgen biosynthesis

    5        Reactome Pathways for SRD5A2
        Metabolism of steroid hormones and vitamin D
    Metabolism
    Steroid hormones
    Androgen biosynthesis
    Metabolism of lipids and lipoproteins


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


    SRD5A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SRD5A2

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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

    SRD5A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SRD5A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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

    10/24 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)

    Search CenterWatch for drugs/clinical trials and news about SRD5A2 / S5A2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    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(uc002rnw.1) ENST00000233139
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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 

    24/43 AceView cDNA sequences (see all 43):

    NM_000348 BM670868 BM693728 CB163994 BE646207 BX104882 BM727083 AL565638 
    BG287020 AA688297 BM699748 BF726287 BM681045 AA588861 AI791965 AL043257 
    BU737568 AI620211 BU689755 AA992031 CB144745 M74047 BU736986 BU740923 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    Genevestigator expression for SRD5A2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including SRD5A2: 
              Drug Metabolism in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRD5A2

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for SRD5A2 gene from 3/9 species (see all 9)    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 68.78(n)
    65.87(a)
      772291  XM_001235446.1  XP_001235447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk70d022 Transcribed sequence with weak similarity to protein more 69.36(n)    BI876786.1 


    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)
    About This Section
    Paralogs for SRD5A2 gene
    1 SIMAP similar gene for SRD5A2 using alignment to 1 protein entry:     S5A2_HUMAN:
    SRD5A1

    SRD5A2 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
    Polymorphism: 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


    10/1282 SNPs in SRD5A2 are shown (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
    ----------
    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--------
    VAR_0131334
    Pseudovaginal perineoscrotal hypospadias (PPSH)4--see VAR_0131332 S Y 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
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SRD5A2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/32 diseases for SRD5A2 (see all 32):    About MalaCards
    5-alpha reductase deficiency    hypospadias    steroid 5-alpha-reductase deficiency    pseudohermaphroditism
    prostate cancer    androgenetic alopecia    transsexualism    disorders of sex development
    46, xy disorders of sex development    hermaphroditism    hair loss    gynecomastia
    oligospermia    alopecia    androgen insensitivity syndrome    familial prostate cancer
    prostate disease    prostate cancer, progression of    cryptorchidism    adrenoleukodystrophy

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

    SRD5A2 for disorders           About GeneDecksing

    10/19 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)
    About This Section

    PubMed articles for SRD5A2 gene, integrated from 9 sources (see all 269):
    (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. (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. (1999)
    3. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. (PubMed id 1522235)1, 2, 3, 9 Thigpen A.E....Russell D.W. (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. (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. (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. (2007)
    7. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PubMed id 16818707)1, 7, 9 Xu Y....Isaacs J.T. (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 Lindstrom S....Gronberg H. (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. (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. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6716 HGNC: 11285 AceView: SRD5A2 Ensembl:ENSG00000049319 euGenes: HUgn6716
    ECgene: SRD5A2 Kegg: 6716 H-InvDB: SRD5A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/SRD5A2
    NIEHS-SNPshttp://egp.gs.washington.edu/data/srd5a2/
    Wikipedia http://en.wikipedia.org/wiki/5_alpha_reductase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SRD5A2 gene:
    Search GeneIP for patents involving SRD5A2

    GeneCards and IP:
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