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    Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [ Mus musculus (house mouse) ]

    Gene ID: 15493, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Hsd3b2provided by MGI
    Official Full Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2provided by MGI
    Primary source
    MGI:MGI:96234
    See related
    Ensembl:ENSMUSG00000063730 AllianceGenome:MGI:96234
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    3-beta-HSD II
    Summary
    Predicted to enable 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity and steroid delta-isomerase activity. Predicted to be involved in C21-steroid hormone biosynthetic process; androgen biosynthetic process; and negative regulation of iron ion transport. Predicted to be located in several cellular components, including intercellular bridge; mitochondrial envelope; and nucleolus. Predicted to be active in cytoplasm and intracellular membrane-bounded organelle. Is expressed in liver. Human ortholog(s) of this gene implicated in hypertension and hypospadias. Orthologous to human HSD3B1 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1) and HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in kidney adult (RPKM 19.0), liver adult (RPKM 15.5) and 3 other tissues See more
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    Genomic context

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    See Hsd3b2 in Genome Data Viewer
    Location:
    3 F2.2; 3 42.85 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (98618423..98631859, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (98711107..98724543, complement)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 pseudogene Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 5 pseudogene Neighboring gene STARR-seq mESC enhancer starr_08481 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3 Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Chaperones rejuvenate folding and activity of 3-β hydroxysteroid dehydrogenase 2. Rajapaksha M, et al. ACS Chem Biol, 2013 May 17. PMID 23485106
    2. The murine 3 beta-hydroxysteroid dehydrogenase multigene family: structure, function and tissue-specific expression. Payne AH, et al. J Steroid Biochem Mol Biol, 1995 Jun. PMID 7626443
    3. The multiple murine 3 beta-hydroxysteroid dehydrogenase isoforms: structure, function, and tissue- and developmentally specific expression. Payne AH, et al. Steroids, 1997 Jan. PMID 9029733
    4. The mouse 3 beta-hydroxysteroid dehydrogenase multigene family includes two functionally distinct groups of proteins. Abbaszade IG, et al. Mol Endocrinol, 1995 Sep. PMID 7491113
    5. Multiple forms of mouse 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase and differential expression in gonads, adrenal glands, liver, and kidneys of both sexes. Bain PA, et al. Proc Natl Acad Sci U S A, 1991 Oct 15. PMID 1924345, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. molecular chaperone-assisted folding of 3-beta hydroxysteroid dehydrogenase-2 is a physiological requirement
      Title: Chaperones rejuvenate folding and activity of 3-β hydroxysteroid dehydrogenase 2.
    Submit: New GeneRIF Correction

    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 MGI

    Function Evidence Code Pubs
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 3-beta-hydroxy-delta5-steroid dehydrogenase (NAD+) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 steroid delta-isomerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables steroid delta-isomerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in C21-steroid hormone biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in C21-steroid hormone metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in androgen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in androgen biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of iron ion transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intercellular bridge ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial intermembrane space ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
    Names
    3 beta-hydroxysteroid dehydrogenase 2
    3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II
    hydroxysteroid dehydrogenase-2, delta<5>-3-beta
    NP_001346670.1
    NP_694873.2
    XP_011238327.1

    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.

    mRNA and Protein(s)

    1. NM_001359741.1 → NP_001346670.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

      Status: VALIDATED

      Source sequence(s)
      AL606755, BX639392
      Consensus CDS
      CCDS17667.1
      UniProtKB/Swiss-Prot
      B1ARN7, P26149, Q8R0J6
      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Related
      ENSMUSP00000102636.2, ENSMUST00000107022.8
      Conserved Domains (1) summary
      cl25409
      Location:5 → 357
      SDR; Short-chain dehydrogenases/reductases (SDR)

    2. NM_153193.3 → NP_694873.2  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

      See identical proteins and their annotated locations for NP_694873.2

      Status: VALIDATED

      Source sequence(s)
      AL606755, BX639392
      Consensus CDS
      CCDS17667.1
      UniProtKB/Swiss-Prot
      B1ARN7, P26149, Q8R0J6
      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Related
      ENSMUSP00000102635.2, ENSMUST00000107021.8
      Conserved Domains (1) summary
      cl25409
      Location:5 → 357
      SDR; Short-chain dehydrogenases/reductases (SDR)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      98618423..98631859 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240025.3 → XP_011238327.1  3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 isoform X1

      UniProtKB/TrEMBL
      Q76CU3, Q7TPU0
      Conserved Domains (1) summary
      cl21454
      Location:14 → 316
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P26149.4 GenPept UniProtKB/Swiss-Prot:P26149

    Gene LinkOut

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

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