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HSD17B2 hydroxysteroid 17-beta dehydrogenase 2 [ Homo sapiens (human) ]

Gene ID: 3294, updated on 5-Mar-2024

Summary

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Official Symbol
HSD17B2provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 2provided by HGNC
Primary source
HGNC:HGNC:5211
See related
Ensembl:ENSG00000086696 MIM:109685; AllianceGenome:HGNC:5211
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HSD17; SDR9C2; EDH17B2
Summary
Enables estradiol 17-beta-dehydrogenase activity and testosterone dehydrogenase (NAD+) activity. Involved in response to retinoic acid. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in duodenum (RPKM 177.2), placenta (RPKM 169.8) and 6 other tissues See more
Orthologs
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Genomic context

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See HSD17B2 in Genome Data Viewer
Location:
16q23.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (82035253..82098534)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (88098974..88162234)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (82068858..82132139)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene phospholipase C gamma 2 Neighboring gene NANOG hESC enhancer GRCh37_chr16:82009174-82009740 Neighboring gene RN7SK pseudogene 176 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:82011207-82011762 Neighboring gene uncharacterized LOC112268169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11226 Neighboring gene short chain dehydrogenase/reductase family 42E, member 1 Neighboring gene HSD17B2 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:82103975-82105174 Neighboring gene MT-CYB pseudogene 28 Neighboring gene MT-ND6 pseudogene 28

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. Single-cell RNA sequencing reveals that HSD17B2 in cancer-associated fibroblasts promotes the development and progression of castration-resistant prostate cancer. Zhang Y, et al. Cancer Lett, 2023 Jul 10. PMID 37244445
  2. Homology modeling meets site-directed mutagenesis: An ideal combination to elucidate the topology of 17β-HSD2. Sager CP, et al. J Steroid Biochem Mol Biol, 2021 Feb. PMID 33246154
  3. Functional Silencing of HSD17B2 in Prostate Cancer Promotes Disease Progression. Gao X, et al. Clin Cancer Res, 2019 Feb 15. PMID 30228209, Free PMC Article
  4. Retinoic acid has the potential to suppress endometriosis development. Yamagata Y, et al. J Ovarian Res, 2015 Jul 31. PMID 26228249, Free PMC Article
  5. Oxidative activity of 17β-hydroxysteroid dehydrogenase on testosterone in male abdominal adipose tissues and cellular localization of 17β-HSD type 2. Fouad Mansour M, et al. Mol Cell Endocrinol, 2015 Oct 15. PMID 26123590

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Single-cell RNA sequencing reveals that HSD17B2 in cancer-associated fibroblasts promotes the development and progression of castration-resistant prostate cancer.
    Title: Single-cell RNA sequencing reveals that HSD17B2 in cancer-associated fibroblasts promotes the development and progression of castration-resistant prostate cancer.
  2. A long non-coding RNA as a direct vitamin D target transcribed from the antisense strand of the human HSD17B2 locus.
    Title: A long non-coding RNA as a direct vitamin D target transcribed from the antisense strand of the human HSD17B2 locus.
  3. Homology modeling meets site-directed mutagenesis: An ideal combination to elucidate the topology of 17beta-HSD2.
    Title: Homology modeling meets site-directed mutagenesis: An ideal combination to elucidate the topology of 17β-HSD2.
  4. Our findings provide evidence of the clinical relevance, significance, and regulation of HSD17B2 in prostate cancer progression, which might provide new strategies for clinical management by targeting the functional silencing mechanisms of HSD17B2.
    Title: Functional Silencing of HSD17B2 in Prostate Cancer Promotes Disease Progression.
  5. ATRA treatment decreased the mRNA expression of 17-beta-dehydrogenase 2 (HSD17B2) which converts estradiol into estrone in a dose-dependent manner
    Title: Retinoic acid has the potential to suppress endometriosis development.
  6. Our findings suggested that CYP19A1 and HSD17B2 polymorphisms might be associated with circulating sex hormone levels in Japanese postmenopausal women, independent of current BMI.
    Title: Polymorphisms in CYP19A1, HSD17B1 and HSD17B2 genes and serum sex hormone level among postmenopausal Japanese women.
  7. Data indicate that conversion of testosterone to 4-dione detected in abdominal adipose tissue is caused by 17b-HSD type 2 which is localized in the vasculature of the adipose compartment.
    Title: Oxidative activity of 17β-hydroxysteroid dehydrogenase on testosterone in male abdominal adipose tissues and cellular localization of 17β-HSD type 2.
  8. This study demonstrated that HSD17B2 transcript and protein levels are linked to some clinicopathological features in gastric cancer.
    Title: Expression of 17β-hydroxysteroid dehydrogenase type 2 is associated with some clinicopathological features in gastric cancer.
  9. High expression of either HSD17B2 or HMGCS2 predicted poor susceptibility of rectal cancer to preoperative chemoradiotherapy.
    Title: The prognostic impact of lipid biosynthesis-associated markers, HSD17B2 and HMGCS2, in rectal cancer treated with neoadjuvant concurrent chemoradiotherapy.
  10. In both arm and subumbilical skin biopsy of patients with idiopathic hirsutism, there was an up-regulation of HSD17B2 mRNA expression.
    Title: Is idiopathic hirsutism (IH) really idiopathic? mRNA expressions of skin steroidogenic enzymes in women with IH.
Submit: New GeneRIF Correction See all GeneRIFs (45)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity TAS
Traceable Author Statement
more info
 PubMed 
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity TAS
Traceable Author Statement
more info
  
enables testosterone dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables testosterone dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in androgen metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in estrogen biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in estrogen biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in placenta development IEA
Inferred from Electronic Annotation
more info
  
involved_in response to retinoic acid IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
17-beta-hydroxysteroid dehydrogenase type 2
Names
17-beta-HSD 2
20 alpha-hydroxysteroid dehydrogenase
20-alpha-HSD
E2DH
estradiol 17-beta-dehydrogenase 2
microsomal 17-beta-hydroxysteroid dehydrogenase
short chain dehydrogenase/reductase family 9C member 2
testosterone 17-beta-dehydrogenase
NP_002144.1
XP_047290005.1
XP_054236184.1

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_002153.3 → NP_002144.1  17-beta-hydroxysteroid dehydrogenase type 2

    See identical proteins and their annotated locations for NP_002144.1

    Status: VALIDATED

    Source sequence(s)
    AU139034, BC059170, BM670647, BP270993
    Consensus CDS
    CCDS10936.1
    UniProtKB/Swiss-Prot
    B2R7T4, P37059
    UniProtKB/TrEMBL
    Q53GD0
    Related
    ENSP00000199936.4, ENST00000199936.9
    Conserved Domains (1) summary
    cd09805
    Location:83 → 362
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    82035253..82098534
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434049.1 → XP_047290005.1  17-beta-hydroxysteroid dehydrogenase type 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    88098974..88162234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380209.1 → XP_054236184.1  17-beta-hydroxysteroid dehydrogenase type 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P37059.1 GenPept UniProtKB/Swiss-Prot:P37059

Gene LinkOut

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

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