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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 27-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
  • 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)

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

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