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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-Nov-2024

    Summary

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    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
    all
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    Genomic context

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    See HSD3B2 in Genome Data Viewer
    Location:
    1p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119414931..119423034)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119428182..119436213)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females. Mendonça BB, et al. J Mol Endocrinol, 1994 Feb. PMID 8185809
    2. Mitochondrial 3β-hydroxysteroid dehydrogenase enzyme activity requires reversible pH-dependent conformational change at the intermembrane space. Prasad M, et al. J Biol Chem, 2012 Mar 16. PMID 22262841, Free PMC Article
    3. Lipid-mediated unfolding of 3β-hydroxysteroid dehydrogenase 2 is essential for steroidogenic activity. Rajapaksha M, et al. Biochemistry, 2011 Dec 27. PMID 22106846, Free PMC Article
    4. Differential expression, function and response to inflammatory stimuli of 11beta-hydroxysteroid dehydrogenase type 1 in human fibroblasts: a mechanism for tissue-specific regulation of inflammation. Hardy RS, et al. Arthritis Res Ther, 2006. PMID 16846535, Free PMC Article
    5. Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. Mermejo LM, et al. J Clin Endocrinol Metab, 2005 Mar. PMID 15585552

    See all (105) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
      Title: High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
    2. Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
      Title: Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
    3. Independent silencing of CRY1 and CRY2 genes in HAC15 cells resulted in a mild upregulation of HSD3B2 without affecting HSD3B1 expression. In conclusion, our results support the hypothesis that CRY1 and CRY2, being AngII-regulated genes, and showing a differential expression in APAs when compared with the adjacent adrenal cortex, might be involved in adrenal cell function, and in the regulation of aldosterone production
      Title: Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing Adenomas and Adrenocortical Cells.
    4. Observed significant increase in HSD3B2 and ESR1 transcripts in follicular eutropic endometrium from infertile women with endometriosis may be related to abnormal biological effect of E2 in endometrium, further affecting the development of human embryos.
      Title: HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile women with endometriosis.
    5. mRNAs expression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT) and in pediatric virilizing adrenocortical tumors (VAT) were analyzed.
      Title: DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex.
    6. Sequencing analyses indicate homozygous p.W355R mutation at exon 4 of the 3 beta-hydroxysteroid dehydrogenase type II (HSD3beta2) gene in both siblings.
      Title: Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene.
    7. the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3beta-HSD2 structure and function.
      Title: A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
    8. The steroidogenic enzymes cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), cytochrome P450 17 alpha-hydroxylase (P450c17) and 3beta-hydroxysteroid dehydrogenase (3beta-HSD) showed immunoreactivity in 9/20 (45.0 %), 15/20 (75.0 %) and 13/20 (65.0 %), respectively, of ovarian-type stroma from pancreatic mucinous cystic neoplasm cases.
      Title: Immunohistochemical analysis of steroidogenic enzymes in ovarian-type stroma of pancreatic mucinous cystic neoplasms: Comparative study of subepithelial stromal cells in intraductal papillary mucinous neoplasms of the pancreas.
    9. HSD3B1 is involved in aldosterone production, despite its lower levels of expression compared with HSD3B2, and also possibly associated with KCNJ5 mutation in aldosterone-producing adenoma.
      Title: 3β-Hydroxysteroid dehydrogenase isoforms in human aldosterone-producing adenoma.
    10. Patients with HSD3B2 deficiency and 21-hydroxylase deficiency suffer similar morbid complications from under- and overtreatment, but HSD3B2 deficiency is associated with a distinctive pattern of sex steroid dysmetabolism.
      Title: Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.
    Submit: New GeneRIF Correction See all GeneRIFs (51)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    3 beta-Hydroxysteroid dehydrogenase deficiency
    MedGen: C0342471 OMIM: 201810 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables steroid delta-isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables steroid delta-isomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 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

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    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)

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    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_000198.4 → NP_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:4 → 356
      3b-HSD_HSDB1_like_SDR_e; human 3beta-HSD (hydroxysteroid dehydrogenase) and HSD3B1(delta 5-delta 4-isomerase)-like, extended (e) SDRs

    2. NM_001166120.2 → NP_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:4 → 356
      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_2024_08

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26439.2 GenPept UniProtKB/Swiss-Prot:P26439

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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