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

SRD5A2 Gene

protein-coding   GIFtS: 64
GCID: GC02M031661

steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5...

 Explore 42 diseases affiliated with
SRD5A2 via our new
 Human Malady Compendium 
Biological research products
for SRD5A2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31213

  • SRD5A2 Protein expression data from MOPED and PaxDb: --
    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 InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SRD5A2 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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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
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    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


    1 GenomeRNAi human phenotype for SRD5A2:
     Decreased Wnt reporter activit 

    Animal Models:
         Mouse knock-out Srd5a2tm1Mahe for SRD5A2
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Srd5a2):
     endocrine/exocrine gland  reproductive system 

    SRD5A2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Translation_Non-genomic (rapid) action of Androgen Receptor
    Translation_Non-genomic (rapid) action of Androgen Receptor1.00
    Translation Non-genomic (rapid) action of Androgen Receptor0.99
    2Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    3Androgen biosynthesis
    Androgen biosynthesis1.00
    androgen biosynthesis0.75
    4Transcription_Androgen Receptor nuclear signaling
    Transcription_Androgen Receptor nuclear signaling1.00
    Transcription Androgen Receptor nuclear signaling0.99
    5Vitamin D (calciferol) metabolism
    Metabolism of steroid hormones and vitamin D0.27
    Steroid hormones0.27

    Pathway sources
    See GeneCards unified pathways
    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, 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
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SRD5A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    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 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 235 Homo sapiens; Mar 10 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,
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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(lincRNA)(uc002rnw.1) ENST00000233139(lincRNA)

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    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):

    NM_000348 BG287020 AA588861 BF726287 BX104882 BE646207 AI791965 AL043257 
    BM681045 BM693728 CB163994 BM727083 AL565638 BM699748 BM670868 AA688297 
    AI620211 BU737568 AI732668 CB144745 M74047 BU736986 AA992031 BU689755 

    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
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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: 
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    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)
    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/1040 NCBI SNPs in SRD5A2 are shown (see all 1040    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs92828581,2
    C,F,non-pathogenic31541786(-) TGCCAG/ACCCRC 2 /T /A mis1 ese313Minor allele frequency- A:0.02MN NS NA EU 911
    rs1214342511,2
    Cpathogenic31490382(-) TCACCA/GCCATA 2 H R mis10--------
    rs93329641,2
    C,F,pathogenic31490394(-) GCTGCG/AAGCTT 2 /Q /R mis1 ese37Minor allele frequency- A:0.01EA MN NA 408
    rs1214342501,2
    Cpathogenic31490488(-) TCCTCG/AGTGAG 2 /S /G mis11Minor allele frequency- A:0.00EU 593
    rs1048936671,2
    Cpathogenic31541853(-) TTGTAC/GGTCGC 2 Y * stg10--------
    rs283830871,2
    C,F,H,untested31485891(-) CTCTAA/CGGAAG 1 -- ut31 ese3 trp313Minor allele frequency- C:0.01NS NA WA 1098
    rs93329751,2
    C,F,H,untested31486398(-) AAACTA/GGTGGC 1 -- ut31 ese337Minor allele frequency- G:0.13NA NS EA CSA WA 3522
    rs617504001,2
    C,untested31486988(-) GCTATC/TGCTCT 1 -- ut310--------
    rs93329661,2
    C,untested31487328(-) AGGTTG/CTACCT 2 /F /L mis11Minor allele frequency- C:0.50EA 2
    rs93329651,2
    C,F,untested31490378(-) CACCAT/CAGGTA 2 /H syn16Minor allele frequency- C:0.01EA NS 190

    HapMap Linkage Disequilibrium report for SRD5A2 (31747550 - 31806136 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SRD5A2
         1 CNV: 78483
         2 Indels: 89552 89553
    Human Gene Mutation Database (HGMD): SRD5A2

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    (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.)
    About This Section

    SRD5A2 for disorders           About GeneDecksing

    OMIM gene information: 607306   
    OMIM disorders: 264600  
    UniProtKB/Swiss-Prot: S5A2_HUMAN, P31213
  • Defects in SRD5A2 are the cause of 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

    20/42 diseases for SRD5A2 (see all 42):    About MalaCards
    pseudovaginal perineoscrotal hypospadias    steroid 5-alpha-reductase deficiency    5-alpha reductase deficiency    pseudohermaphroditism
    hypospadias    46, xy disorders of sex development    androgen insensitivity syndrome    prostatitis
    disorders of sex development    perineal hypospadias    androgenetic alopecia    micropenis
    gynecomastia    virilization    polycystic ovary syndrome    alopecia
    oligospermia    transsexualism    breast-ovarian cancer    ovarian cancer

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

    10/19 Novoseek 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 261):
    (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. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. (PubMed id 16818707)1, 7, 9 Xu Y....Isaacs J.T. (2006)
    7. 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)
    8. A common polymorphism within the steroid 5-alpha-reductase type 2 gene and timing of menopause in Caucasian women. (PubMed id 16325991)1, 4, 9 Huber A....Hefler L.A. (2006)
    9. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. (PubMed id 15201804)1, 4, 9 Ishii T....Ogata T. (2004)
    10. Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4. (PubMed id 12446983)1, 4, 9 Zeigler-Johnson C.M....Rebbeck T.R. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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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

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    About This Section
    Patent Information for SRD5A2 gene:
    Search GeneIP for patents involving SRD5A2

    GeneCards and IP:
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