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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 2-May-2024

    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; AllianceGenome:HGNC:5218
    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
    NEW
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    Genomic context

    Location:
    1p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119414931..119423034)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119428182..119436213)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119957554..119965657)

    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 NANOG-H3K27ac hESC enhancer GRCh37_chr1:119883491-119884293 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:119884294-119885095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1593 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:119900810-119902009 Neighboring gene HAO2 intronic transcript 1 Neighboring gene hydroxyacid oxidase 2 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in C21-steroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in androgen biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hippocampus development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to corticosterone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in steroid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial intermembrane space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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
      5220..13104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000198.4NP_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
      A2RRA5, P26439, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08
      UniProtKB/TrEMBL
      B2R8L0
      Related
      ENSP00000358424.3, ENST00000369416.4
      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_001166120.2NP_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
      A2RRA5, P26439, Q16010, Q53GD4, Q6AI10, Q6LDB9, Q99890, Q9UD08
      UniProtKB/TrEMBL
      B2R8L0
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      119414931..119423034
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      119428182..119436213
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)