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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 23-Nov-2021

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
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
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Genomic context

See HSD3B2 in Genome Data Viewer
Location:
1p12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119414931..119423034)
105.20201022 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 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 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

Homology

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
PubMed 
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
PubMed 
involved_in response to corticosterone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
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
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)

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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
    5001..13109
    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
    P26439
    UniProtKB/TrEMBL
    A0A024R0F9
    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
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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