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    HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [ Homo sapiens (human) ]

    Gene ID: 3293, updated on 2-Nov-2024

    Summary

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    Official Symbol
    HSD17B3provided by HGNC
    Official Full Name
    hydroxysteroid 17-beta dehydrogenase 3provided by HGNC
    Primary source
    HGNC:HGNC:5212
    See related
    Ensembl:ENSG00000130948 MIM:605573; AllianceGenome:HGNC:5212
    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
    EDH17B3; SDR12C2
    Summary
    This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 7.7), small intestine (RPKM 0.7) and 4 other tissues See more
    Orthologs
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    Genomic context

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    See HSD17B3 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (96235306..96302176, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (108406656..108473885, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98997588..99064458, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr9:98922000-98922212 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110786 Neighboring gene uncharacterized LOC107987033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98949371-98950169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20076 Neighboring gene SLC35D2-HSD17B3 readthrough Neighboring gene HSD17B3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28651 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:99051559-99052109 Neighboring gene solute carrier family 35 member D2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99104760-99105284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99105285-99105808 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20078 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110866 Neighboring gene Sharpr-MPRA regulatory region 10311 Neighboring gene zinc finger protein 367 Neighboring gene NSA2 pseudogene 7

    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. Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men. Margiotti K, et al. Prostate, 2002 Sep 15. PMID 12210481
    2. A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty. Tuhan HU, et al. Clin Chim Acta, 2015 Jan 1. PMID 25064799
    3. Relationship between testosterone level and early repolarization on 12-lead electrocardiograms in men. Junttila MJ, et al. J Am Coll Cardiol, 2013 Oct 22. PMID 23916922
    4. Novel mutation among two sisters with 17β hydroxysteroid dehydrogenase type 3 deficiency. Massanyi EZ, et al. Urology, 2013 May. PMID 23375913
    5. A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity. Ben Rhouma B, et al. J Sex Med, 2013 Oct. PMID 22594312

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
      Title: Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
    2. Lessons from 17beta-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.
      Title: Lessons from 17β-HSD3 deficiency: Clinical spectrum and complex molecular basis in Chinese patients.
    3. Substituted Aryl Benzylamines as Potent and Selective Inhibitors of 17beta-Hydroxysteroid Dehydrogenase Type 3.
      Title: Substituted Aryl Benzylamines as Potent and Selective Inhibitors of 17β-Hydroxysteroid Dehydrogenase Type 3.
    4. The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
      Title: The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
    5. Establishment of HEK293 cells expressing various missense mutations in the HSD17B3 gene associated with 46,XY DSD revealed that this system is effective to evaluate the enzymatic activities of mutant proteins.
      Title: Evaluation of 17β-hydroxysteroid dehydrogenase activity using androgen receptor-mediated transactivation.
    6. mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development
      Title: Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.
    7. The 17beta-HSD3 G289S substitution, previously reported in other patients with 46,XY disorders of sex development, is a polymorphism that does not cause the disorder.
      Title: Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian Patients.
    8. The study shows that 17-beta-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects.
      Title: Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.
    9. analysis of Tunisian patients with mutations in the gene encoding 17beta-hydroxysteroid dehydrogenase type 3 and a founder effect
      Title: Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect.
    10. Mutation G133R in HSD17B3 results in almost complete loss of enzyme activity since it interferes with binding of cofactor NADPH.
      Title: Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    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
    Testosterone 17-beta-dehydrogenase deficiency
    MedGen: C0268296 OMIM: 264300 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours among Bangladeshi adults.
    EBI GWAS Catalog

    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

    Readthrough SLC35D2-HSD17B3

    Readthrough gene: SLC35D2-HSD17B3, Included gene: SLC35D2

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 17-beta-hydroxysteroid dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables estradiol 17-beta-dehydrogenase [NAD(P)+] activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables testosterone 17-beta-dehydrogenase (NADP+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables testosterone 17-beta-dehydrogenase (NADP+) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables testosterone dehydrogenase [NAD(P)+] activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in androgen biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in male genitalia development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in steroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in testosterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    17-beta-hydroxysteroid dehydrogenase type 3
    Names
    17-beta-HSD 3
    17-beta-HSD3
    estradiol 17-beta-dehydrogenase 2
    hydroxysteroid dehydrogenase 3
    short chain dehydrogenase/reductase family 12C member 2
    testicular 17-beta-hydroxysteroid dehydrogenase
    testosterone 17-beta-dehydrogenase 3
    NP_000188.1

    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_008157.1 RefSeqGene

      Range
      4977..71847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1296

    mRNA and Protein(s)

    1. NM_000197.2 → NP_000188.1  17-beta-hydroxysteroid dehydrogenase type 3

      See identical proteins and their annotated locations for NP_000188.1

      Status: REVIEWED

      Source sequence(s)
      BC034281, HY027495
      Consensus CDS
      CCDS6716.1
      UniProtKB/Swiss-Prot
      P37058, Q5U0Q6
      UniProtKB/TrEMBL
      A0A0S2Z3U6, Q6FH62
      Related
      ENSP00000364412.3, ENST00000375263.8
      Conserved Domains (1) summary
      cd05356
      Location:48 → 284
      17beta-HSD1_like_SDR_c; 17-beta-hydroxysteroid dehydrogenases (17beta-HSDs) types -1, -3, and -12, -like, classical (c) 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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      96235306..96302176 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      108406656..108473885 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P37058.2 GenPept UniProtKB/Swiss-Prot:P37058

    Gene LinkOut

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

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