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HSD17B6 hydroxysteroid 17-beta dehydrogenase 6 [ Homo sapiens (human) ]

Gene ID: 8630, updated on 11-Apr-2024

Summary

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Official Symbol
HSD17B6provided by HGNC
Official Full Name
hydroxysteroid 17-beta dehydrogenase 6provided by HGNC
Primary source
HGNC:HGNC:23316
See related
Ensembl:ENSG00000025423 MIM:606623; AllianceGenome:HGNC:23316
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
HSE; RODH; SDR9C6
Summary
The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]
Expression
Biased expression in liver (RPKM 415.0), lung (RPKM 33.0) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (56763324..56787790)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (56720359..56755674)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (57157108..57181574)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6519 Neighboring gene nascent polypeptide associated complex subunit alpha Neighboring gene DNA primase subunit 1 Neighboring gene Sharpr-MPRA regulatory region 96 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:57198454-57199103 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene YWHAQ pseudogene 3

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. Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias. Mares L, et al. J Pediatr Urol, 2020 Oct. PMID 32732174
  2. Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population. Ju R, et al. Eur J Endocrinol, 2015 Mar. PMID 25422294
  3. Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene. Jones MR, et al. J Clin Endocrinol Metab, 2009 Dec. PMID 19837928, Free PMC Article
  4. Role of microsomal retinol/sterol dehydrogenase-like short-chain dehydrogenases/reductases in the oxidation and epimerization of 3alpha-hydroxysteroids in human tissues. Belyaeva OV, et al. Endocrinology, 2007 May. PMID 17289849, Free PMC Article
  5. Gene structure, chromosomal localization and analysis of 3-ketosteroid reductase activity of the human 3(alpha-->beta)-hydroxysteroid epimerase. Huang XF, et al. Biochim Biophys Acta, 2001 Aug 30. PMID 11513953

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HSD17B6 delays type 2 diabetes development via inhibiting SREBP activation.
    Title: HSD17B6 delays type 2 diabetes development via inhibiting SREBP activation.
  2. Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias.
    Title: Molecular genetic analysis of AKR1C2-4 and HSD17B6 genes in subjects 46,XY with hypospadias.
  3. No significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls.
    Title: Association analysis between the polymorphisms of HSD17B5 and HSD17B6 and risk of polycystic ovary syndrome in Chinese population.
  4. the CYP11A1, CYP17A1, HSD3B2, SRD5A2, and HSD17B6 mRNA levels in metastases were significantly lower.
    Title: Characterization of prostate cancer bone metastases according to expression levels of steroidogenic enzymes and androgen receptor splice variants.
  5. data suggest that there is no association of HSD17B6 and HSD17B5 variants with the occurrence of polycystic ovary syndrome in the Chinese population
    Title: Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome.
  6. 17beta-hydroxysteroid dehydrogenase type 6 (17betaHSD6) converts the androgen DHT to the estrogen 3beta-Adiol, and this leads to activation of the ERbeta reporter.
    Title: Estrogen receptor β and 17β-hydroxysteroid dehydrogenase type 6, a growth regulatory pathway that is lost in prostate cancer.
  7. These replication data suggest a role for HSD17B6 in polycystic ovary syndrome
    Title: Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms of the HSD17B6 and HSD17B5 genes in Chinese women with polycystic ovary syndrome.
  9. RoDH enzymes are expressed in tissues that have microsomal 3alpha-hydroxysteroid dehydrogenase/epimerase activities
    Title: Role of microsomal retinol/sterol dehydrogenase-like short-chain dehydrogenases/reductases in the oxidation and epimerization of 3alpha-hydroxysteroids in human tissues.
  10. These data suggest that polymorphisms in the HSD17B6 gene are associated with PCOS and key clinical phenotypes of the disorder.
    Title: Polymorphism in HSD17B6 is associated with key features of polycystic ovary syndrome.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
EBI GWAS Catalog
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
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)

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 5alpha-androstane-3beta,17beta-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables all-trans-retinol dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables androsterone dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables catalytic activity TAS
Traceable Author Statement
more info
 PubMed 
enables electron transfer activity TAS
Traceable Author Statement
more info
 PubMed 
enables estradiol 17-beta-dehydrogenase [NAD(P)] activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables testosterone 17-beta-dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
  
enables testosterone dehydrogenase (NAD+) activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in androgen biosynthetic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in androgen catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in brexanolone catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
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 6
Names
17-beta-HSD 6
3(alpha->beta)-hydroxysteroid epimerase
3(alpha->beta)-hydroxysteroid epimerasel
3-alpha->beta-HSE
3-hydroxysteroid epimerase
NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase 3-hydroxysteroid epimerase
hydroxysteroid (17-beta) dehydrogenase 6 homolog
oxidative 3-alpha-hydroxysteroid-dehydrogenase
oxidoreductase
retinol dehydrogenase
short chain dehydrogenase/reductase family 9C member 6
NP_003716.2
XP_005269265.1
XP_006719735.1
XP_011537229.1
XP_024305019.1
XP_047285758.1
XP_054229669.1
XP_054229670.1
XP_054229671.1
XP_054229672.1
XP_054229673.1
XP_054229674.1
XP_054229675.1
XP_054229676.1

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_003725.4 → NP_003716.2  17-beta-hydroxysteroid dehydrogenase type 6 precursor

    See identical proteins and their annotated locations for NP_003716.2

    Status: REVIEWED

    Source sequence(s)
    AA934892, BC020710
    Consensus CDS
    CCDS8925.1
    UniProtKB/Swiss-Prot
    O14756, O43275
    UniProtKB/TrEMBL
    B2R8L8
    Related
    ENSP00000318631.1, ENST00000322165.1
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    56763324..56787790
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449251.2 → XP_024305019.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

    UniProtKB/TrEMBL
    A0A219K5H4
    Conserved Domains (1) summary
    cl25409
    Location:30 → 250
    SDR; Short-chain dehydrogenases/reductases (SDR)

  2. XM_005269208.2 → XP_005269265.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_005269265.1

    UniProtKB/Swiss-Prot
    O14756, O43275
    UniProtKB/TrEMBL
    B2R8L8
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  3. XM_006719672.2 → XP_006719735.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_006719735.1

    UniProtKB/Swiss-Prot
    O14756, O43275
    UniProtKB/TrEMBL
    B2R8L8
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  4. XM_011538927.2 → XP_011537229.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    See identical proteins and their annotated locations for XP_011537229.1

    UniProtKB/Swiss-Prot
    O14756, O43275
    UniProtKB/TrEMBL
    B2R8L8
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  5. XM_047429802.1 → XP_047285758.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X3

    UniProtKB/TrEMBL
    A0A219K684

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    56720359..56755674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373695.1 → XP_054229670.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275

  2. XM_054373694.1 → XP_054229669.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275

  3. XM_054373699.1 → XP_054229674.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275

  4. XM_054373696.1 → XP_054229671.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275

  5. XM_054373698.1 → XP_054229673.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275

  6. XM_054373701.1 → XP_054229676.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X2

    UniProtKB/TrEMBL
    A0A219K5H4

  7. XM_054373697.1 → XP_054229672.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275

  8. XM_054373700.1 → XP_054229675.1  17-beta-hydroxysteroid dehydrogenase type 6 isoform X1

    UniProtKB/Swiss-Prot
    O14756, O43275
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14756.1 GenPept UniProtKB/Swiss-Prot:O14756

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