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Aliases for HSD17B6 Gene

Aliases for HSD17B6 Gene

  • Hydroxysteroid (17-Beta) Dehydrogenase 6 2 3
  • Short Chain Dehydrogenase/Reductase Family 9C Member 6 3 4
  • Oxidative 3-Alpha-Hydroxysteroid-Dehydrogenase 2 3
  • Oxidative 3-Alpha Hydroxysteroid Dehydrogenase 3 4
  • 3(Alpha->Beta)-Hydroxysteroid Epimerasel 2 3
  • 3-Alpha->Beta-Hydroxysteroid Epimerase 3 4
  • 3-Hydroxysteroid Epimerase 2 3
  • Retinol Dehydrogenase 2 3
  • 3-Alpha->Beta-HSE 3 4
  • Oxidoreductase 2 3
  • 17-Beta-HSD 6 3 4
  • EC 1.1.1.105 4 63
  • SDR9C6 3 4
  • RODH 3 4
  • HSE 3 6
  • NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 3-Hydroxysteroid Epimerase 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog (Mouse) 2
  • Short Chain Dehydrogenase/Reductase Family 9C, Member 6 3
  • NAD+ -Dependent 3 Alpha-Hydroxysteroid Dehydrogenase 2
  • Hydroxysteroid (17-Beta) Dehydrogenase 6 Homolog 3
  • Short Chain Dehydrogenase/Reductase Family 9C 2
  • 17-Beta-Hydroxysteroid Dehydrogenase Type 6 3
  • 3(Alpha->Beta)-Hydroxysteroid Epimerase 3
  • 17-Beta-HSD6 4
  • EC 1.1.1.239 4
  • EC 1.1.1.62 4
  • Member 6 2
  • EC 1.1.1 63

External Ids for HSD17B6 Gene

Previous GeneCards Identifiers for HSD17B6 Gene

  • GC12P055444
  • GC12P057157
  • GC12P054196

Summaries for HSD17B6 Gene

Entrez Gene Summary for HSD17B6 Gene

  • 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]

GeneCards Summary for HSD17B6 Gene

HSD17B6 (Hydroxysteroid (17-Beta) Dehydrogenase 6) is a Protein Coding gene. Diseases associated with HSD17B6 include apparent mineralocorticoid excess. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include electron carrier activity and retinol dehydrogenase activity. An important paralog of this gene is HSD11B2.

UniProtKB/Swiss-Prot for HSD17B6 Gene

  • NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.

Gene Wiki entry for HSD17B6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HSD17B6 Gene

Genomics for HSD17B6 Gene

Regulatory Elements for HSD17B6 Gene

Genomic Location for HSD17B6 Gene

Start:
56,752,161 bp from pter
End:
56,787,790 bp from pter
Size:
35,630 bases
Orientation:
Plus strand

Genomic View for HSD17B6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HSD17B6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B6 Gene

Proteins for HSD17B6 Gene

  • Protein details for HSD17B6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14756-H17B6_HUMAN
    Recommended name:
    17-beta-hydroxysteroid dehydrogenase type 6
    Protein Accession:
    O14756
    Secondary Accessions:
    • O43275

    Protein attributes for HSD17B6 Gene

    Size:
    317 amino acids
    Molecular mass:
    35966 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB88252.1; Type=Frameshift; Positions=158, 174; Evidence={ECO:0000305};

neXtProt entry for HSD17B6 Gene

Proteomics data for HSD17B6 Gene at MOPED

Selected DME Specific Peptides for HSD17B6 Gene

Post-translational modifications for HSD17B6 Gene

  • Ubiquitination at Lys64
  • Glycosylation at Asn161, Asn215, and Asn256
  • Modification sites at PhosphoSitePlus

Other Protein References for HSD17B6 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HSD17B6 (Hsd17b6)

Domains for HSD17B6 Gene

Gene Families for HSD17B6 Gene

HGNC:
  • SDRC2 :Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

Suggested Antigen Peptide Sequences for HSD17B6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14756

UniProtKB/Swiss-Prot:

H17B6_HUMAN :
  • O14756
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B6: view

Function for HSD17B6 Gene

Molecular function for HSD17B6 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=0.19 uM for NAD {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.18 uM for NADH {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=54 uM for NADPH {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=940 uM for NADP {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=3.2 uM for all-trans-retinol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.24 uM for allopregnanolone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.13 uM for 3-alpha-androstanediol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.23 uM for androsterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; KM=0.13 uM for dehydroepiandrosterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=1.2 nmol/min/mg enzyme with all-trans-retinol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=14.7 nmol/min/mg enzyme with allopregnanolone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=16.5 nmol/min/mg enzyme with 3-alpha-androstanediol {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=35 nmol/min/mg enzyme with androsterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Vmax=0.90 nmol/min/mg enzyme with dehydroepiandrosterone {ECO:0000269 PubMed:10896656, ECO:0000269 PubMed:11360992}; Note=The kinetic parameters were determined using microsomes from transfected cells.;
UniProtKB/Swiss-Prot CatalyticActivity: 17-beta-estradiol + NAD(P)(+) = estrone + NAD(P)H
UniProtKB/Swiss-Prot CatalyticActivity: Testosterone + NAD(+) = androstenedione + NADH
UniProtKB/Swiss-Prot CatalyticActivity: All-trans-retinol-[cellular-retinol-binding-protein] + NAD(+) = all-trans-retinal-[cellular-retinol-binding-protein] + NADH
UniProtKB/Swiss-Prot Function: NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3-alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is first oxidized to 5-alpha-androstane-3,17-dione and then reduced to epi-andosterone. Can act on both C-19 and C-21 3-alpha-hydroxysteroids.

Enzyme Numbers (IUBMB) for HSD17B6 Gene

Gene Ontology (GO) - Molecular Function for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity TAS 9188497
GO:0004303 estradiol 17-beta-dehydrogenase activity IEA --
GO:0004745 retinol dehydrogenase activity IEA --
GO:0009055 electron carrier activity TAS 9188497
GO:0016491 oxidoreductase activity NAS 9188497
genes like me logo Genes that share ontologies with HSD17B6: view

Animal Model Products

CRISPR Products

miRNA for HSD17B6 Gene

miRTarBase miRNAs that target HSD17B6

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for HSD17B6 Gene

Localization for HSD17B6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B6 Gene

Microsome membrane; Peripheral membrane protein; Lumenal side. Early endosome membrane; Peripheral membrane protein; Lumenal side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HSD17B6 Gene COMPARTMENTS Subcellular localization image for HSD17B6 gene
Compartment Confidence
endosome 5
cytosol 3
endoplasmic reticulum 3
mitochondrion 2
nucleus 2
extracellular 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 11513953
GO:0005768 endosome --
GO:0005783 endoplasmic reticulum IEA --
GO:0016020 membrane --
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with HSD17B6: view

Pathways for HSD17B6 Gene

genes like me logo Genes that share pathways with HSD17B6: view

Interacting Proteins for HSD17B6 Gene

Gene Ontology (GO) - Biological Process for HSD17B6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006702 androgen biosynthetic process NAS 9188497
GO:0006710 androgen catabolic process TAS 9188497
GO:0008152 metabolic process --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HSD17B6: view

Compounds for HSD17B6 Gene

(6) HMDB Compounds for HSD17B6 Gene

Compound Synonyms Cas Number PubMed IDs
Estradiol
  • (+)-3,17b-Estradiol
50-28-2
Estrone
  • (+)-Estrone
53-16-7
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
Succinic acid
  • 1,2-Ethanedicarboxylate
110-15-6

(1) Drugbank Compounds for HSD17B6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target

(3) Novoseek inferred chemical compound relationships for HSD17B6 Gene

Compound -log(P) Hits PubMed IDs
5alpha-androstane-3alpha,17beta-diol 81.8 1
dihydrotestosterone 64.7 2
vitamin a 52.7 1
genes like me logo Genes that share compounds with HSD17B6: view

Transcripts for HSD17B6 Gene

mRNA/cDNA for HSD17B6 Gene

Unigene Clusters for HSD17B6 Gene

Hydroxysteroid (17-beta) dehydrogenase 6:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HSD17B6

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for HSD17B6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B6 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: - - - -
SP2:
SP3: - - -
SP4: - - -
SP5: - -
SP6: - - - - - - - - -
SP7: - -
SP8: -

Relevant External Links for HSD17B6 Gene

GeneLoc Exon Structure for
HSD17B6
ECgene alternative splicing isoforms for
HSD17B6

Expression for HSD17B6 Gene

mRNA expression in normal human tissues for HSD17B6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B6 Gene

This gene is overexpressed in Liver (30.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HSD17B6 Gene

SOURCE GeneReport for Unigene cluster for HSD17B6 Gene Hs.524513

mRNA Expression by UniProt/SwissProt for HSD17B6 Gene

O14756-H17B6_HUMAN
Tissue specificity: Detected in liver and prostate (at protein level). Detected in adult liver, lung, brain, placenta, prostate, adrenal gland, testis, mammary gland, spleen, spinal cord and uterus. Detected in caudate nucleus, and at lower levels in amygdala, corpus callosum, hippocampus, substantia nigra and thalamus. Detected in fetal lung, liver and brain.
genes like me logo Genes that share expressions with HSD17B6: view

In Situ Assay Products

Orthologs for HSD17B6 Gene

This gene was present in the common ancestor of animals.

Orthologs for HSD17B6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HSD17B6 35
  • 85.38 (n)
  • 79.5 (a)
HSD17B6 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B6 35
  • 85.38 (n)
  • 80.44 (a)
HSD17B6 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hsd17b6 35
  • 77.95 (n)
  • 73.42 (a)
Hsd17b6 16
Hsd17b6 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 56 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
ManyToMany
-- 36
  • 61 (a)
ManyToMany
-- 36
  • 60 (a)
ManyToMany
-- 36
  • 60 (a)
ManyToMany
-- 36
  • 61 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
-- 36
  • 60 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii -- 35
dhrs9 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dhs-20 35
  • 50 (n)
  • 43.17 (a)
Species with no ortholog for HSD17B6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HSD17B6 Gene

ENSEMBL:
Gene Tree for HSD17B6 (if available)
TreeFam:
Gene Tree for HSD17B6 (if available)

Paralogs for HSD17B6 Gene

Selected SIMAP similar genes for HSD17B6 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for HSD17B6 Gene

genes like me logo Genes that share paralogs with HSD17B6: view

Variants for HSD17B6 Gene

Sequence variations from dbSNP and Humsavar for HSD17B6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs898611 -- 56,769,532(+) AGGCT(C/T)GACCT intron-variant
rs2371628 -- 56,784,545(+) GGTGG(C/T)GCATG intron-variant
rs2958137 -- 56,757,545(-) ctccc(C/T)ggttc intron-variant
rs2958138 -- 56,756,322(-) TAGGC(A/G)TGGTG intron-variant
rs3816616 -- 56,782,305(+) TTTCG(C/G)CTATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HSD17B6 Gene

Variant ID Type Subtype PubMed ID
nsv826382 CNV Gain 20364138
esv2667772 CNV Deletion 23128226

Relevant External Links for HSD17B6 Gene

HapMap Linkage Disequilibrium report
HSD17B6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B6 Gene

Disorders for HSD17B6 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for HSD17B6 Gene including...

Search for HSD17B6 Gene in MalaCards »

(1) University of Copenhagen DISEASES for HSD17B6 Gene

Relevant External Links for HSD17B6

Genetic Association Database (GAD)
HSD17B6
Human Genome Epidemiology (HuGE) Navigator
HSD17B6
genes like me logo Genes that share disorders with HSD17B6: view

No data available for UniProtKB/Swiss-Prot for HSD17B6 Gene

Publications for HSD17B6 Gene

  1. Expression cloning and characterization of oxidative 17beta- and 3alpha-hydroxysteroid dehydrogenases from rat and human prostate. (PMID: 9188497) Biswas M.G. … Russell D.W. (J. Biol. Chem. 1997) 3 4 23
  2. Further characterization of human microsomal 3alpha-hydroxysteroid dehydrogenase. (PMID: 11360992) Chetyrkin S.V. … Kedishvili N.Y. (Arch. Biochem. Biophys. 2001) 3 4
  3. Gene structure, chromosomal localization and analysis of 3- ketosteroid reductase activity of the human 3(alpha-->beta)- hydroxysteroid epimerase. (PMID: 11513953) Huang X.-F. … Luu-The V. (Biochim. Biophys. Acta 2001) 3 4
  4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PMID: 19027726) Persson B. … Oppermann U. (Chem. Biol. Interact. 2009) 2 3
  5. Independent confirmation of association between metabolic phenotypes of polycystic ovary syndrome and variation in the type 6 17beta-hydroxysteroid dehydrogenase gene. (PMID: 19837928) Jones M.R. … Goodarzi M.O. (J. Clin. Endocrinol. Metab. 2009) 3 48

Products for HSD17B6 Gene

  • antibodies-online proteins for HSD17B6
  • antibodies-online antibodies for HSD17B6
  • antibodies-online kits for HSD17B6

Sources for HSD17B6 Gene

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