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    SRD5A2 steroid 5 alpha-reductase 2 [ Homo sapiens (human) ]

    Gene ID: 6716, updated on 8-Nov-2017
    Official Symbol
    SRD5A2provided by HGNC
    Official Full Name
    steroid 5 alpha-reductase 2provided by HGNC
    Primary source
    HGNC:HGNC:11285
    See related
    Ensembl:ENSG00000277893 MIM:607306; Vega:OTTHUMG00000152057
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    Location:
    2p23.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (31522486..31665651, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31749656..31806040, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene xanthine dehydrogenase Neighboring gene uncharacterized LOC107985862 Neighboring gene uncharacterized LOC107985863 Neighboring gene long intergenic non-protein coding RNA 1946

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
    MedGen: C0268297 OMIM: 264600 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of steroid-5-alpha-reductase, alpha polypeptide 2 (SRD5A2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Androgen biosynthesis, organism-specific biosystem (from REACTOME)
      Androgen biosynthesis, organism-specific biosystemAndrogens are the determining factors for male development and behaviour in vertebrates (Miller 2002).
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of steroid hormones, organism-specific biosystem (from REACTOME)
      Metabolism of steroid hormones, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
    • Prostate cancer, organism-specific biosystem (from KEGG)
      Prostate cancer, organism-specific biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Prostate cancer, conserved biosystem (from KEGG)
      Prostate cancer, conserved biosystemProstate cancer constitutes a major health problem in Western countries. It is the most frequently diagnosed cancer among men and the second leading cause of male cancer deaths. The identification of...
    • Steroid hormone biosynthesis, organism-specific biosystem (from KEGG)
      Steroid hormone biosynthesis, organism-specific biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
    • Steroid hormone biosynthesis, conserved biosystem (from KEGG)
      Steroid hormone biosynthesis, conserved biosystemSteroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 co...
    • allopregnanolone biosynthesis, organism-specific biosystem (from BIOCYC)
      allopregnanolone biosynthesis, organism-specific biosystemGeneral Background : 3-BETA-HYDROXY-5-ALPHA-PREGNANE-20-ONE is a neuroactive steroid which is a steroid that is able to regulate neural functions. It is derived from : PROGESTERONE and is synthesiz...
    • allopregnanolone biosynthesis, conserved biosystem (from BIOCYC)
      allopregnanolone biosynthesis, conserved biosystemGeneral Background |FRAME: 3-BETA-HYDROXY-5-ALPHA-PREGNANE-20-ONE Allopregnanolone| is a neuroactive steroid which is a steroid that is able to regulate neural functions. It is derived from |FRAME:...
    • androgen biosynthesis, organism-specific biosystem (from BIOCYC)
      androgen biosynthesis, organism-specific biosystemThis pathway describes the conversion of the inactive C21 steroid hormone precursor pregnenolone to the androgens: androstenedione, testosterone and 17beta-hydroxy-5alpha-androstan-3-one. Androstened...
    • androgen biosynthesis, conserved biosystem (from BIOCYC)
      androgen biosynthesis, conserved biosystemThis pathway describes the conversion of the inactive C21 steroid hormone precursor |FRAME: PREGNENOLONE| to the androgens: |FRAME: ANDROST4ENE androstenedione|, |FRAME: TESTOSTERONE| and |FRAME: 17-...
    • superpathway of steroid hormone biosynthesis, organism-specific biosystem (from BIOCYC)
      superpathway of steroid hormone biosynthesis, organism-specific biosystemAs their name implies, : Steroid-Hormones "steroid hormones" are steroids that act as hormones. Steroid hormones are divided into five groups based on the receptors to which they bind: : Glucocortico...
    • superpathway of steroid hormone biosynthesis, conserved biosystem (from BIOCYC)
      superpathway of steroid hormone biosynthesis, conserved biosystemAs their name implies, |FRAME: Steroid-Hormones "steroid hormones"| are steroids that act as hormones. Steroid hormones are divided into five groups based on the receptors to which they bind: |FRAME:...

    Markers

    Homology

    Clone Names

    • MGC138457

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    3-oxo-5-alpha-steroid 4-dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    amide binding IEA
    Inferred from Electronic Annotation
    more info
     
    cholestenone 5-alpha-reductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    sterol 5-alpha reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    testosterone dehydrogenase [NAD(P)] activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    androgen biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    androgen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    androgen metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    biphenyl metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    bone development IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    dibenzo-p-dioxin metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    female genitalia development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    hypothalamus development IEA
    Inferred from Electronic Annotation
    more info
     
    male genitalia development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    phthalate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    progesterone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to follicle-stimulating hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient levels IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to steroid hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    steroid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    testosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cell body fiber IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    3-oxo-5-alpha-steroid 4-dehydrogenase 2
    Names
    5 alpha-SR2
    S5AR 2
    SR type 2
    steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
    type II 5-alpha reductase
    NP_000339.2
    XP_011531371.1
    XP_011531374.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008365.1 RefSeqGene

      Range
      5001..61386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000348.3NP_000339.2  3-oxo-5-alpha-steroid 4-dehydrogenase 2

      See identical proteins and their annotated locations for NP_000339.2

      Status: REVIEWED

      Source sequence(s)
      AL133247, BC112252
      Consensus CDS
      CCDS74503.1
      UniProtKB/Swiss-Prot
      P31213
      Related
      ENSP00000477587.1, OTTHUMP00000275904, ENST00000622030.1, OTTHUMT00000325124
      Conserved Domains (1) summary
      pfam02544
      Location:105254
      Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      31522486..31665651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533072.2XP_011531374.1  3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X2

      See identical proteins and their annotated locations for XP_011531374.1

      Conserved Domains (1) summary
      pfam02544
      Location:20169
      Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
    2. XM_011533069.2XP_011531371.1  3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X1

      Conserved Domains (1) summary
      pfam02544
      Location:31180
      Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      31678089..31734473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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