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

    Gene ID: 3293, updated on 10-Dec-2024

    Summary

    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

    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

    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?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1251 screens)

    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

    Pathways from PubChem

    Interactions

    General gene information

    Readthrough SLC35D2-HSD17B3

    Readthrough gene: SLC35D2-HSD17B3, Included gene: SLC35D2

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane  
    located_in intracellular membrane-bounded organelle PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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)
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