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    HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [ Homo sapiens (human) ]

    Gene ID: 3284, updated on 21-Oct-2018

    Summary

    Official Symbol
    HSD3B2provided by HGNC
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2provided by HGNC
    Primary source
    HGNC:HGNC:5218
    See related
    Ensembl:ENSG00000203859 MIM:613890; Vega:OTTHUMG00000012526
    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
    Also known as
    HSDB; HSD3B; SDR11E2
    Summary
    The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
    Expression
    Restricted expression toward adrenal (RPKM 1042.2) See more
    Orthologs

    Genomic context

    See HSD3B2 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (119414931..119423039)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119957554..119965662)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1780 Neighboring gene RNA, U1 small nuclear 75, pseudogene Neighboring gene hydroxyacid oxidase 2 Neighboring gene HAO2 intronic transcript 1 Neighboring gene HSD3B2 5' regulatory region Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 74 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3-beta-hydroxy-delta5-steroid dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    3-beta-hydroxy-delta5-steroid dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS
    Traceable Author Statement
    more info
     
    cholesterol dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid delta-isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    steroid delta-isomerase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    C21-steroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    androgen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    glucocorticoid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    hippocampus development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mineralocorticoid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    response to corticosterone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    smooth endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
    Names
    3 beta-HSD type II
    3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
    3-beta-HSD II
    3-beta-HSD adrenal and gonadal type
    3-beta-hydroxy-5-ene steroid dehydrogenase
    3-beta-hydroxy-Delta(5)-steroid dehydrogenase
    delta 5-delta 4-isomerase type II
    progesterone reductase
    short chain dehydrogenase/reductase family 11E, member 2
    NP_000189.1
    NP_001159592.1

    NCBI Reference Sequences (RefSeq)

    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_013349.1 RefSeqGene

      Range
      5001..13109
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000198.3NP_000189.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

      See identical proteins and their annotated locations for NP_000189.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK222997, AV705363, BC038419
      Consensus CDS
      CCDS902.1
      UniProtKB/Swiss-Prot
      P26439
      UniProtKB/TrEMBL
      A0A024R0F9
      Related
      ENSP00000358424.3, OTTHUMP00000014489, ENST00000369416.3, OTTHUMT00000034994
      Conserved Domains (1) summary
      cd09811
      Location:4356
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs
    2. NM_001166120.1NP_001159592.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

      See identical proteins and their annotated locations for NP_001159592.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' non-coding exon, hence differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK222997, BC038419, BP197992
      Consensus CDS
      CCDS902.1
      UniProtKB/Swiss-Prot
      P26439
      UniProtKB/TrEMBL
      A0A024R0F9
      Related
      ENSP00000445122.1, ENST00000543831.5
      Conserved Domains (1) summary
      cd09811
      Location:4356
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      119414931..119423039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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